#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
TTLL10	254173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	1117120	1117120	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:1117120G>A	ENST00000379290.1	+	9	928		c.e9-1		TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Splice_Site|TTLL10_ENST00000379288.3_Splice_Site			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGGCTGCAGGCTGGAAAAG	0.682																																					.		.											.	TTLL10-153	0			c.756-1G>A						.						25.0	24.0	25.0					1																	1117120		2189	4289	6478	SO:0001630	splice_region_variant	254173	exon9			GCTGCAGGCTGGA	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.756-1G>A	1.37:g.1117120G>A		298	0		392	94	NM_001130045	0	0	0	0	0	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Splice_Site	SNP	ENST00000379290.1	37	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	G	4.514	0.095359	0.08681	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	.	.	.	2.71	0.674	0.17946	.	.	.	.	.	.	.	.	.	.	.	0.21290	N	0.999732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1436	0.06464	0.1508:0.0:0.5881:0.2611	.	.	.	.	.	-1	.	.	.	+	.	.	TTLL10	1106983	0.010000	0.17322	0.005000	0.12908	0.041000	0.13682	1.261000	0.32980	0.186000	0.20125	0.456000	0.33151	.	.		0.682	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254	Intron
MXRA8	54587	hgsc.bcm.edu	37	1	1290077	1290077	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:1290077C>T	ENST00000309212.6	-	5	964	c.934G>A	c.(934-936)Ggc>Agc	p.G312S	MXRA8_ENST00000477278.2_Missense_Mutation_p.G303S|MXRA8_ENST00000445648.2_Missense_Mutation_p.G312S|MXRA8_ENST00000342753.4_Missense_Mutation_p.G211S	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	312					establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCTGGGGCGCCGCTGTGGCTG	0.761																																					p.G312S		.											.	MXRA8-90	0			c.G934A						.						4.0	7.0	6.0					1																	1290077		1858	3883	5741	SO:0001583	missense	54587	exon5			GGGCGCCGCTGTG	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.934G>A	1.37:g.1290077C>T	ENSP00000307887:p.Gly312Ser	2	0		36	14	NM_032348	0	0	0	0	0	B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	ENST00000309212.6	37	CCDS24.1	.	.	.	.	.	.	.	.	.	.	.	5.751	0.323007	0.10900	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.12361	2.69;2.69;2.69	3.87	-5.74	0.02391	.	2.050580	0.02264	N	0.067808	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.17268	0.012;0.009;0.01;0.021;0.012	B;B;B;B;B	0.10450	0.002;0.001;0.003;0.005;0.002	T	0.33650	-0.9860	10	0.08837	T	0.75	-27.0753	6.5136	0.22236	0.0:0.3522:0.2133:0.4346	.	303;211;290;312;312	B3KTR6;B4DE34;B4E385;Q9BRK3-2;Q9BRK3	.;.;.;.;MXRA8_HUMAN	S	312;303;211;312	ENSP00000307887:G312S;ENSP00000344998:G211S;ENSP00000399229:G312S	ENSP00000307887:G312S	G	-	1	0	MXRA8	1279940	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-0.171000	0.09883	-0.776000	0.04578	0.298000	0.19748	GGC	.		0.761	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348	
CCNL2	81669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	1334033	1334033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:1334033G>A	ENST00000400809.3	-	2	312	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	CCNL2_ENST00000408952.5_5'Flank|CCNL2_ENST00000408918.4_Nonsense_Mutation_p.Q103*|RP4-758J18.2_ENST00000576232.1_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	103	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AACAACACCTGCCCGGTAGCC	0.502																																					p.Q103X		.											.	CCNL2-70	0			c.C307T						.						98.0	107.0	104.0					1																	1334033		2203	4297	6500	SO:0001587	stop_gained	81669	exon2			ACACCTGCCCGGT	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.307C>T	1.37:g.1334033G>A	ENSP00000383611:p.Gln103*	215	0		245	124	NM_030937	0	0	0	0	0	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Nonsense_Mutation	SNP	ENST00000400809.3	37	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	G	37	6.368694	0.97511	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	.	.	.	5.05	4.14	0.48551	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	12.5714	0.56339	0.0809:0.0:0.9191:0.0	.	.	.	.	X	103	.	ENSP00000383611:Q103X	Q	-	1	0	CCNL2	1323896	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	9.433000	0.97501	1.142000	0.42291	-0.140000	0.14226	CAG	.		0.502	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937	
GNB1	2782	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	1747196	1747196	+	Splice_Site	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:1747196T>G	ENST00000378609.4	-	5	533	c.202A>C	c.(202-204)Agg>Cgg	p.R68R		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	68					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CACGCCTACCTGGAGTCTGTG	0.562																																					p.R68R		.											.	GNB1-227	0			c.A202C						.						127.0	93.0	104.0					1																	1747196		2203	4300	6503	SO:0001630	splice_region_variant	2782	exon5			CCTACCTGGAGTC	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.203+1A>C	1.37:g.1747196T>G		115	1		176	88	NM_002074	0	0	0	0	0	B1AJZ7|P04697|P04901|Q1RMY8	Silent	SNP	ENST00000378609.4	37	CCDS34.1																																																																																			.		0.562	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074	Silent
PANK4	55229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	2440355	2440355	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:2440355C>A	ENST00000378466.3	-	19	2265	c.2253G>T	c.(2251-2253)gcG>gcT	p.A751A	PANK4_ENST00000435556.3_Silent_p.A712A	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	751					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGGCCAGCCACGCGTTCTTGA	0.647																																					p.A751A		.											.	PANK4-158	0			c.G2253T						.						28.0	29.0	28.0					1																	2440355		2192	4295	6487	SO:0001819	synonymous_variant	55229	exon19			CAGCCACGCGTTC	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.2253G>T	1.37:g.2440355C>A		77	0		220	104	NM_018216	0	0	0	0	0	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	ENST00000378466.3	37	CCDS42.1																																																																																			.		0.647	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1		
PANK4	55229	broad.mit.edu;bcgsc.ca	37	1	2445885	2445885	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:2445885C>G	ENST00000378466.3	-	11	1407	c.1395G>C	c.(1393-1395)gcG>gcC	p.A465A	PANK4_ENST00000435556.3_Silent_p.A426A	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	465					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGGCTGGCTCGCCACTGCGC	0.627																																					p.A465A		.											.	PANK4-158	0			c.G1395C						.						40.0	41.0	41.0					1																	2445885		2202	4297	6499	SO:0001819	synonymous_variant	55229	exon11			CTGGCTCGCCACT	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1395G>C	1.37:g.2445885C>G		87	2		90	29	NM_018216	0	0	0	0	0	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	ENST00000378466.3	37	CCDS42.1																																																																																			.		0.627	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1		
MMEL1	79258	broad.mit.edu	37	1	2560819	2560821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:2560819_2560821delCAG	ENST00000378412.3	-	2	264_266	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	MMEL1_ENST00000511099.1_5'Flank|MMEL1_ENST00000288709.6_In_Frame_Del_p.L26del|MMEL1_ENST00000502556.1_In_Frame_Del_p.L35del			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	35						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAGCGGTCACcagcagcagcagc	0.739																																					p.35_35del		.											.	MMEL1-90	0			c.103_105del						.			2,190,3148		0,0,2,18,154,1496						-0.2	0.9			12	5,359,6192		1,0,3,61,237,2976	no	codingComplex	MMEL1	NM_033467.3		1,0,5,79,391,4472	A1A1,A1A2,A1R,A2A2,A2R,RR		5.5522,5.7485,5.6184				7,549,9340				SO:0001651	inframe_deletion	79258	exon2			GGTCACCAGCAGC	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.103_105delCTG	1.37:g.2560828_2560830delCAG	ENSP00000367668:p.Leu35del	30	0		225	7	NM_033467	0	0	0	0	0	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	In_Frame_Del	DEL	ENST00000378412.3	37	CCDS30569.2																																																																																			.		0.739	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	
PRDM16	63976	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	3328612	3328612	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:3328612G>C	ENST00000270722.5	+	9	1900	c.1851G>C	c.(1849-1851)acG>acC	p.T617T	PRDM16_ENST00000378398.3_Silent_p.T618T|PRDM16_ENST00000378391.2_Silent_p.T617T|PRDM16_ENST00000442529.2_Silent_p.T617T|PRDM16_ENST00000511072.1_Silent_p.T618T|PRDM16_ENST00000514189.1_Silent_p.T618T|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Silent_p.T617T			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	617					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCTGGACACGACCACGGGGA	0.642			T	EVI1	"""MDS, AML"""																																p.T617T		.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16-660	0			c.G1851C						.						74.0	87.0	83.0					1																	3328612		2183	4262	6445	SO:0001819	synonymous_variant	63976	exon9			GGACACGACCACG	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1851G>C	1.37:g.3328612G>C		174	1		298	62	NM_022114	0	0	0	0	0	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																			.		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
TP73	7161	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	3639930	3639930	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:3639930C>T	ENST00000378295.4	+	6	784	c.629C>T	c.(628-630)cCa>cTa	p.P210L	TP73_ENST00000378290.4_Missense_Mutation_p.P139L|TP73_ENST00000357733.3_Missense_Mutation_p.P210L|TP73_ENST00000603362.1_Missense_Mutation_p.P210L|TP73_ENST00000378285.1_Missense_Mutation_p.P161L|TP73_ENST00000346387.4_Missense_Mutation_p.P210L|TP73_ENST00000354437.4_Missense_Mutation_p.P210L|TP73_ENST00000378288.4_Missense_Mutation_p.P161L|TP73_ENST00000604479.1_Missense_Mutation_p.P210L|TP73_ENST00000604074.1_Missense_Mutation_p.P210L|TP73_ENST00000378280.1_Missense_Mutation_p.P161L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	210	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CAGTCTGCTCCAGCCAGCCAC	0.632																																					p.P210L		.											.	TP73-415	0			c.C629T						.						73.0	56.0	62.0					1																	3639930		2199	4290	6489	SO:0001583	missense	7161	exon6			CTGCTCCAGCCAG	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.629C>T	1.37:g.3639930C>T	ENSP00000367545:p.Pro210Leu	597	2		731	161	NM_005427	0	0	0	0	0	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431202	0.83776	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	3.56	3.56	0.40772	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.109689	0.64402	D	0.000006	D	0.99619	0.9861	M	0.78285	2.405	0.80722	D	1	D;D;D;D;D;D	0.76494	0.993;0.99;0.994;0.999;0.958;0.997	P;P;P;P;P;D	0.62955	0.725;0.796;0.754;0.841;0.744;0.909	D	0.97357	0.9967	10	0.72032	D	0.01	-14.1506	13.4591	0.61217	0.0:1.0:0.0:0.0	.	161;161;161;161;210;210	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	L	210;210;210;210;161;161;161;139	ENSP00000367545:P210L;ENSP00000346423:P210L;ENSP00000350366:P210L;ENSP00000340740:P210L;ENSP00000367537:P161L;ENSP00000367534:P161L;ENSP00000367529:P161L;ENSP00000367539:P139L	ENSP00000340740:P210L	P	+	2	0	TP73	3629790	1.000000	0.71417	0.971000	0.41717	0.770000	0.43624	7.625000	0.83145	1.955000	0.56771	0.486000	0.48141	CCA	.		0.632	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427	
CCDC27	148870	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	3669101	3669101	+	Frame_Shift_Del	DEL	G	G	-	rs535544341		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:3669101delG	ENST00000294600.2	+	1	140	c.56delG	c.(55-57)cggfs	p.R19fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	19										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGAGATCCACGGGAAAAGCCG	0.572																																					p.R19fs		.											.	CCDC27-91	0			c.56delG						.						111.0	101.0	104.0					1																	3669101		2203	4300	6503	SO:0001589	frameshift_variant	148870	exon1			ATCCACGGGAAAA		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.56delG	1.37:g.3669101delG	ENSP00000294600:p.Arg19fs	101	0		176	88	NM_152492	0	0	0	0	0	Q5TBV3|Q96M50	Frame_Shift_Del	DEL	ENST00000294600.2	37	CCDS50.1																																																																																			.		0.572	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
CHD5	26038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	6196856	6196856	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:6196856G>A	ENST00000262450.3	-	16	2605	c.2506C>T	c.(2506-2508)Ctg>Ttg	p.L836L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATGGAGCCCAGGATGGCCTGG	0.582																																					p.L836L		.											.	CHD5-719	0			c.C2506T						.						67.0	67.0	67.0					1																	6196856		2203	4300	6503	SO:0001819	synonymous_variant	26038	exon16			AGCCCAGGATGGC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2506C>T	1.37:g.6196856G>A		104	0		158	37	NM_015557	0	0	0	0	0	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																			.		0.582	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
CAMTA1	23261	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	7723792	7723792	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:7723792G>T	ENST00000303635.7	+	9	1392	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q395H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCTTGTCCCAGAGCGCCACGG	0.642			T	WWTR1	epitheliod hemangioendothelioma																																p.Q395H		.		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	CAMTA1-520	0			c.G1185T						.						94.0	91.0	92.0					1																	7723792		2203	4300	6503	SO:0001583	missense	23261	exon9			GTCCCAGAGCGCC	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1185G>T	1.37:g.7723792G>T	ENSP00000306522:p.Gln395His	170	1		227	118	NM_015215	0	0	0	0	0	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	13.53	2.265481	0.40095	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.51817	0.69;0.69	5.01	0.789	0.18607	.	0.130324	0.53938	D	0.000059	T	0.58366	0.2117	L	0.53249	1.67	0.41410	D	0.987735	D	0.67145	0.996	D	0.75484	0.986	T	0.56245	-0.8011	10	0.72032	D	0.01	-12.8665	9.5563	0.39341	0.3827:0.0:0.6173:0.0	.	395	Q9Y6Y1	CMTA1_HUMAN	H	395	ENSP00000306522:Q395H;ENSP00000402561:Q395H	ENSP00000306522:Q395H	Q	+	3	2	CAMTA1	7646379	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	2.608000	0.46308	-0.122000	0.11766	-0.400000	0.06385	CAG	.		0.642	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
PER3	8863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	7869982	7869982	+	Nonsense_Mutation	SNP	C	C	A	rs140055805	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:7869982C>A	ENST00000361923.2	+	11	1444	c.1269C>A	c.(1267-1269)taC>taA	p.Y423*	PER3_ENST00000377532.3_Nonsense_Mutation_p.Y424*|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	423					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCGGCTACGGGAGCCTGG	0.617																																					p.Y423X		.											.	PER3-93	0			c.C1269A						.						39.0	39.0	39.0					1																	7869982		2202	4300	6502	SO:0001587	stop_gained	8863	exon11			CGGCTACGGGAGC	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1269C>A	1.37:g.7869982C>A	ENSP00000355031:p.Tyr423*	215	1		297	143	NM_016831	0	0	0	0	0	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Nonsense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621633	0.66787	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	.	.	.	4.34	-6.3	0.02007	.	0.068966	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0747	0.53636	0.0:0.4378:0.0:0.5622	.	.	.	.	X	424;423	.	ENSP00000355031:Y423X	Y	+	3	2	PER3	7792569	0.103000	0.21917	0.033000	0.17914	0.107000	0.19398	-0.833000	0.04396	-1.348000	0.02205	-1.193000	0.01689	TAC	C|1.000;T|0.000		0.617	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831	
SRM	6723	hgsc.bcm.edu	37	1	11119899	11119899	+	Silent	SNP	T	T	C	rs7545802		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:11119899T>C	ENST00000376957.2	-	1	182	c.102A>G	c.(100-102)tcA>tcG	p.S34S		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	34	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CCACCTGCAGTGACAGGGCCT	0.761													C|||	5008	1.0	1.0	1.0	5008	,	,		7294	1.0		1.0	False		,,,				2504	1.0				p.S34S		.											.	SRM-90	0			c.A102G						.						8.0	10.0	10.0					1																	11119899		1613	3461	5074	SO:0001819	synonymous_variant	6723	exon1			CTGCAGTGACAGG	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.102A>G	1.37:g.11119899T>C		0	0		7	7	NM_003132	0	0	0	0	0	B1AKP9|Q15511	Silent	SNP	ENST00000376957.2	37	CCDS125.1																																																																																			T|0.001;C|0.999		0.761	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132	
VPS13D	55187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	12339596	12339596	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12339596G>A	ENST00000358136.3	+	20	4621	c.4491G>A	c.(4489-4491)ctG>ctA	p.L1497L	VPS13D_ENST00000356315.4_Silent_p.L1497L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTTTAAACTGGAGAAGATCC	0.368																																					p.L1497L		.											.	VPS13D-95	0			c.G4491A						.						108.0	109.0	109.0					1																	12339596		2203	4300	6503	SO:0001819	synonymous_variant	55187	exon20			TAAACTGGAGAAG	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4491G>A	1.37:g.12339596G>A		156	0		169	49	NM_015378	0	0	0	0	0		Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	9.726	1.161085	0.21538	.	.	ENSG00000048707	ENST00000011700	.	.	.	6.02	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.38	0.38306	0.1273:0.0:0.7543:0.1184	.	.	.	.	X	320	.	.	W	+	2	0	VPS13D	12262183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.526000	0.45607	1.563000	0.49615	0.650000	0.86243	TGG	.		0.368	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
VPS13D	55187	broad.mit.edu	37	1	12476832	12476832	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12476832G>T	ENST00000358136.3	+	65	12415	c.12285G>T	c.(12283-12285)ggG>ggT	p.G4095G	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Silent_p.G93G|VPS13D_ENST00000356315.4_Silent_p.G4070G	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAATGTCGGGGGCCTCATCA	0.428																																					p.G4095G		.											.	VPS13D-95	0			c.G12285T						.						115.0	121.0	119.0					1																	12476832		2203	4300	6503	SO:0001819	synonymous_variant	55187	exon65			TGTCGGGGGCCTC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12285G>T	1.37:g.12476832G>T		46	2		68	17	NM_015378	0	0	0	0	0		Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	9.774	1.173372	0.21704	.	.	ENSG00000048707	ENST00000011700	T	0.51325	0.71	5.69	-0.0545	0.13813	.	0.045722	0.85682	D	0.000000	T	0.47192	0.1432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37361	-0.9709	7	0.56958	D	0.05	.	4.7464	0.13040	0.4378:0.0:0.3436:0.2186	.	.	.	.	V	2917	ENSP00000011700:G2917V	ENSP00000011700:G2917V	G	+	2	0	VPS13D	12399419	0.256000	0.24012	0.993000	0.49108	0.984000	0.73092	-0.401000	0.07232	-0.053000	0.13289	0.655000	0.94253	GGG	.		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
PRAMEF1	65121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	12854331	12854331	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12854331G>C	ENST00000332296.7	+	3	658	c.555G>C	c.(553-555)ctG>ctC	p.L185L	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	185					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGTAAGCTGGTCAATTATC	0.418																																					p.L185L		.											.	PRAMEF1-22	0			c.G555C						.						174.0	187.0	183.0					1																	12854331		2203	4297	6500	SO:0001819	synonymous_variant	65121	exon3			TAAGCTGGTCAAT	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.555G>C	1.37:g.12854331G>C		261	0		289	134	NM_023013	0	0	0	0	0	Q9UQP2	Silent	SNP	ENST00000332296.7	37	CCDS148.1																																																																																			.		0.418	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013	
PRAMEF11	440560	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	12887562	12887562	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12887562G>T	ENST00000535591.1	-	3	490	c.295C>A	c.(295-297)Cca>Aca	p.P99T		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	99					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTCATCCTTGGACAGTCCTGC	0.498																																					p.P99T		.											.	.	0			c.C295A						.																																			SO:0001583	missense	440560	exon3			TCCTTGGACAGTC	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.295C>A	1.37:g.12887562G>T	ENSP00000439551:p.Pro99Thr	43	0		72	21	NM_001146344	0	0	0	0	0		Missense_Mutation	SNP	ENST00000535591.1	37	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.417	0.845526	0.16963	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.20069	2.1;2.1	0.907	-1.81	0.07882	.	2.845270	0.01311	N	0.010601	T	0.44829	0.1312	M	0.85542	2.76	0.09310	N	1	D	0.76494	0.999	D	0.67725	0.953	T	0.34527	-0.9825	10	0.51188	T	0.08	.	2.29	0.04136	0.2861:0.333:0.381:0.0	.	99	O60813	PRA11_HUMAN	T	99;140;99	ENSP00000439551:P99T;ENSP00000391839:P99T	ENSP00000328783:P140T	P	-	1	0	PRAMEF11	12810149	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.080000	0.11339	-0.800000	0.04433	0.400000	0.26472	CCA	.		0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341	
PRAMEF2	65122	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	12918933	12918933	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12918933G>C	ENST00000240189.2	+	2	156	c.69G>C	c.(67-69)ttG>ttC	p.L23F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	23					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGGCCTTGTCCATCTCTG	0.582																																					p.L23F		.											.	PRAMEF2-68	0			c.G69C						.						90.0	100.0	97.0					1																	12918933		2201	4294	6495	SO:0001583	missense	65122	exon2			GGCCTTGTCCATC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.69G>C	1.37:g.12918933G>C	ENSP00000240189:p.Leu23Phe	165	1		152	90	NM_023014	0	0	0	0	0		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	g	10.84	1.464597	0.26335	.	.	ENSG00000120952	ENST00000240189	T	0.10477	2.87	0.842	0.842	0.18927	.	0.943105	0.08778	N	0.895189	T	0.35885	0.0947	M	0.91818	3.245	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.08229	-1.0732	10	0.87932	D	0	.	5.0452	0.14480	0.0:0.0:1.0:0.0	.	23	O60811	PRAM2_HUMAN	F	23	ENSP00000240189:L23F	ENSP00000240189:L23F	L	+	3	2	PRAMEF2	12841520	0.080000	0.21391	0.008000	0.14137	0.002000	0.02628	1.792000	0.38754	0.759000	0.33084	0.194000	0.17425	TTG	.		0.582	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
PRAMEF10	343071	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	12954838	12954838	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:12954838C>A	ENST00000235347.4	-	3	524	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	149					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTATGAACACCTTCAAGGGC	0.542																																					p.V149L		.											.	PRAMEF10-90	0			c.G445T						.						104.0	106.0	105.0					1																	12954838		1970	3969	5939	SO:0001583	missense	343071	exon3			TGAACACCTTCAA	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.445G>T	1.37:g.12954838C>A	ENSP00000235347:p.Val149Leu	146	1		143	69	NM_001039361	0	0	0	0	0	Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	13.29	2.193733	0.38707	.	.	ENSG00000187545	ENST00000235347	T	0.19105	2.17	1.86	1.86	0.25419	.	0.269718	0.28284	N	0.015907	T	0.22704	0.0548	M	0.70275	2.135	0.09310	N	1	P	0.40970	0.734	B	0.41571	0.36	T	0.07520	-1.0768	10	0.41790	T	0.15	.	7.2617	0.26207	0.0:1.0:0.0:0.0	.	149	O60809	PRA10_HUMAN	L	149	ENSP00000235347:V149L	ENSP00000235347:V149L	V	-	1	0	PRAMEF10	12877425	0.001000	0.12720	0.129000	0.21949	0.157000	0.22087	-0.106000	0.10890	1.362000	0.46000	0.194000	0.17425	GTG	.		0.542	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342	
CROCC	9696	hgsc.bcm.edu	37	1	17265519	17265519	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:17265519G>T	ENST00000375541.5	+	12	1559	c.1490G>T	c.(1489-1491)cGg>cTg	p.R497L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCCCCACCGCGGCGCTCCTCG	0.746																																					p.R497L		.											.	CROCC-137	0			c.G1490T						.																																			SO:0001583	missense	9696	exon12			CACCGCGGCGCTC	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1490G>T	1.37:g.17265519G>T	ENSP00000364691:p.Arg497Leu	1	0		20	12	NM_014675	0	0	0	0	0		Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530970	0.64972	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.11712	2.75	5.39	5.39	0.77823	.	.	.	.	.	T	0.29458	0.0734	L	0.53249	1.67	0.43628	D	0.996017	B;D;D	0.89917	0.451;1.0;1.0	B;D;D	0.87578	0.169;0.979;0.998	T	0.00211	-1.1915	9	0.33940	T	0.23	.	18.0808	0.89440	0.0:0.0:1.0:0.0	.	360;360;497	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	L	497;378	ENSP00000364691:R497L	ENSP00000364691:R497L	R	+	2	0	CROCC	17138106	0.767000	0.28508	0.914000	0.36105	0.309000	0.27889	1.312000	0.33574	2.702000	0.92279	0.561000	0.74099	CGG	.		0.746	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675	
ATP13A2	23400	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	17313430	17313430	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:17313430T>C	ENST00000326735.8	-	27	3138	c.3105A>G	c.(3103-3105)acA>acG	p.T1035T	ATP13A2_ENST00000452699.1_Silent_p.T1030T|ATP13A2_ENST00000341676.5_Silent_p.T991T|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	1035					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GTGCGGCCACTGTCCTGTTCA	0.627																																					p.T1035T		.											.	ATP13A2-93	0			c.A3105G						.						87.0	78.0	81.0					1																	17313430		2203	4300	6503	SO:0001819	synonymous_variant	23400	exon27			GGCCACTGTCCTG	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.3105A>G	1.37:g.17313430T>C		72	1		159	75	NM_022089	0	0	0	0	0	O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	CCDS175.1																																																																																			.		0.627	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
PAX7	5081	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	19018406	19018406	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:19018406G>T	ENST00000375375.3	+	5	1343	c.745G>T	c.(745-747)Gag>Tag	p.E249*	PAX7_ENST00000420770.2_Nonsense_Mutation_p.E249*|PAX7_ENST00000400661.3_Nonsense_Mutation_p.E247*	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	249					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CACCCGCGAGGAGCTGGCGCA	0.602			T	FOXO1A	alveolar rhabdomyosarcoma																																p.E249X		.		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	.	PAX7-1630	0			c.G745T						.						42.0	38.0	39.0					1																	19018406		2202	4299	6501	SO:0001587	stop_gained	5081	exon5			CGCGAGGAGCTGG	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.745G>T	1.37:g.19018406G>T	ENSP00000364524:p.Glu249*	169	1		203	46	NM_002584	0	0	0	0	0	E9PFV9|Q0VA99|Q2PJS5	Nonsense_Mutation	SNP	ENST00000375375.3	37	CCDS186.1	.	.	.	.	.	.	.	.	.	.	G	38	7.014034	0.98002	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	.	.	.	4.85	4.85	0.62838	.	0.229716	0.43747	D	0.000533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.519	0.84308	0.0:0.0:1.0:0.0	.	.	.	.	X	249;249;247	.	ENSP00000364524:E249X	E	+	1	0	PAX7	18890993	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.741000	0.98843	2.243000	0.73865	0.561000	0.74099	GAG	.		0.602	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584	
PLA2G5	5322	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	20416346	20416346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:20416346C>T	ENST00000375108.3	+	4	518	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	84					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CATTCGCACACAGTCCTACAA	0.582																																					p.Q84X		.											.	PLA2G5-515	0			c.C250T						.						114.0	93.0	100.0					1																	20416346		2203	4300	6503	SO:0001587	stop_gained	5322	exon4			CGCACACAGTCCT	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.250C>T	1.37:g.20416346C>T	ENSP00000364249:p.Gln84*	148	0		181	48	NM_000929	0	0	0	0	0	Q8N435	Nonsense_Mutation	SNP	ENST00000375108.3	37	CCDS202.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292625	0.59976	.	.	ENSG00000127472	ENST00000375108	.	.	.	5.93	3.95	0.45737	.	0.354031	0.24628	N	0.036902	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-26.5662	12.4303	0.55571	0.0:0.6756:0.3244:0.0	.	.	.	.	X	84	.	ENSP00000364249:Q84X	Q	+	1	0	PLA2G5	20288933	0.042000	0.20092	0.754000	0.31244	0.215000	0.24574	0.729000	0.26028	1.509000	0.48786	-0.176000	0.13171	CAG	.		0.582	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929	
VWA5B1	127731	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	20669628	20669628	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:20669628C>A	ENST00000375079.2	+	16	2564	c.2368C>A	c.(2368-2370)Cca>Aca	p.P790T	VWA5B1_ENST00000525343.1_3'UTR|VWA5B1_ENST00000289815.8_Missense_Mutation_p.P790T|VWA5B1_ENST00000375083.4_Missense_Mutation_p.P790T	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	790						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						CTGGGACCCCCCAGCCGAGTC	0.706																																					p.P790T		.											.	.	0			c.C2368A						.						6.0	10.0	9.0					1																	20669628		681	1559	2240	SO:0001583	missense	127731	exon16			GACCCCCCAGCCG	AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.2368C>A	1.37:g.20669628C>A	ENSP00000364220:p.Pro790Thr	70	0		221	57	NM_001039500	0	0	0	0	0	A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	ENST00000375079.2	37		.	.	.	.	.	.	.	.	.	.	c	1.845	-0.466562	0.04476	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000375079	T;T;T	0.13420	2.59;2.59;2.59	3.37	-0.127	0.13510	.	1.013450	0.07918	N	0.975485	T	0.06690	0.0171	N	0.14661	0.345	0.09310	N	0.999999	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.42799	-0.9430	10	0.21014	T	0.42	.	3.8162	0.08817	0.5312:0.3267:0.0:0.1421	.	790;790;790	Q5TIE3;Q5TIE3-5;Q5TIE3-2	VW5B1_HUMAN;.;.	T	790	ENSP00000289815:P790T;ENSP00000364224:P790T;ENSP00000364220:P790T	ENSP00000289815:P790T	P	+	1	0	VWA5B1	20542215	0.420000	0.25457	0.297000	0.24988	0.131000	0.20780	0.885000	0.28227	0.519000	0.28406	0.165000	0.16767	CCA	.		0.706	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000007945.4	XM_001722222	
VWA5B1	127731	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	20680294	20680294	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:20680294C>A	ENST00000375079.2	+	22	3397	c.3201C>A	c.(3199-3201)gcC>gcA	p.A1067A	VWA5B1_ENST00000525343.1_3'UTR|VWA5B1_ENST00000289815.8_Silent_p.A1036A	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	1067						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						TCAACGAAGCCTTCTGTGAGG	0.607																																					p.A1062A		.											.	.	0			c.C3186A						.						65.0	68.0	67.0					1																	20680294		692	1591	2283	SO:0001819	synonymous_variant	127731	exon22			CGAAGCCTTCTGT	AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.3201C>A	1.37:g.20680294C>A		112	2		139	62	NM_001039500	0	0	0	0	0	A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Silent	SNP	ENST00000375079.2	37																																																																																				.		0.607	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000007945.4	XM_001722222	
HSPG2	3339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	22179236	22179236	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:22179236T>A	ENST00000374695.3	-	52	6760	c.6681A>T	c.(6679-6681)ctA>ctT	p.L2227L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2227	Ig-like C2-type 7.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTGAGGCCTCTAGGGGGCCGG	0.647																																					p.L2227L		.											.	HSPG2-141	0			c.A6681T						.						68.0	75.0	73.0					1																	22179236		2203	4300	6503	SO:0001819	synonymous_variant	3339	exon52			GGCCTCTAGGGGG	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6681A>T	1.37:g.22179236T>A		110	0		171	43	NM_005529	0	0	0	0	0	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1																																																																																			.		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
CNKSR1	10256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	26509747	26509747	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:26509747G>T	ENST00000374253.5	+	7	723	c.684G>T	c.(682-684)caG>caT	p.Q228H	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Splice_Site_p.Q228H	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	228	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACACCCAGGTGAGAGCCC	0.627																																					p.Q228H	NSCLC(180;1396 2109 28270 30756 34275)	.											.	CNKSR1-846	0			c.G684T						.						140.0	150.0	147.0					1																	26509747		2203	4300	6503	SO:0001630	splice_region_variant	10256	exon7			CACCCAGGTGAGA	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.684+1G>T	1.37:g.26509747G>T		277	0		317	80	NM_006314	0	0	0	0	0	B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.938397	0.73557	.	.	ENSG00000142675	ENST00000361530;ENST00000374253	T;T	0.13778	2.56;2.56	5.37	5.37	0.77165	PDZ/DHR/GLGF (1);	0.059185	0.64402	D	0.000004	T	0.25044	0.0608	L	0.43923	1.385	0.80722	D	1	D;D	0.67145	0.991;0.996	P;P	0.57548	0.77;0.823	T	0.00258	-1.1871	10	0.42905	T	0.14	-18.8248	15.8421	0.78857	0.0:0.0:1.0:0.0	.	228;228	Q969H4;Q53GM7	CNKR1_HUMAN;.	H	228	ENSP00000354609:Q228H;ENSP00000363371:Q228H	ENSP00000354609:Q228H	Q	+	3	2	CNKSR1	26382334	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.485000	0.45250	2.505000	0.84491	0.655000	0.94253	CAG	.		0.627	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	Missense_Mutation
RPS6KA1	6195	hgsc.bcm.edu	37	1	26856462	26856462	+	Silent	SNP	T	T	G	rs11800553	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:26856462T>G	ENST00000374168.2	+	1	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	RPS6KA1_ENST00000374162.2_5'Flank|RPS6KA1_ENST00000526792.1_5'Flank|RPS6KA1_ENST00000374166.4_Silent_p.P17P	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	17					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGCTAGTGCCTCTGGACCCGG	0.786													G|||	4691	0.936701	0.9259	0.9179	5008	,	,		6031	0.9583		0.9553	False		,,,				2504	0.9233				p.P17P		.											.	RPS6KA1-510	0			c.T51G						.						2.0	2.0	2.0					1																	26856462		1084	2070	3154	SO:0001819	synonymous_variant	6195	exon1			AGTGCCTCTGGAC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.51T>G	1.37:g.26856462T>G		0	0		8	8	NM_002953	0	0	0	0	0	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	CCDS284.1																																																																																			T|0.065;G|0.935		0.786	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953	
WDTC1	23038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	27627876	27627876	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:27627876G>A	ENST00000319394.3	+	13	1927	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	WDTC1_ENST00000361771.3_Silent_p.P463P	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	464					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGAAATTTCCGGAGCAGGCCC	0.582											OREG0013280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P464P		.											.	WDTC1-91	0			c.G1392A						.						66.0	65.0	65.0					1																	27627876		2203	4300	6503	SO:0001819	synonymous_variant	23038	exon13			ATTTCCGGAGCAG	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1392G>A	1.37:g.27627876G>A		119	0	795	119	24	NM_001276252	0	0	0	0	0	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37																																																																																				.		0.582	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023	
OPRD1	4985	hgsc.bcm.edu	37	1	29189702	29189702	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:29189702C>A	ENST00000234961.2	+	3	1268	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	342					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)	GCCCAGACCCCAGCAGCTTCA	0.711																																					p.P342P		.											.	OPRD1-69	0			c.C1026A						.						8.0	9.0	9.0					1																	29189702		2185	4282	6467	SO:0001819	synonymous_variant	4985	exon3			AGACCCCAGCAGC	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.1026C>A	1.37:g.29189702C>A		3	0		33	10	NM_000911	0	0	0	0	0	B5B0B8	Silent	SNP	ENST00000234961.2	37	CCDS329.1																																																																																			.		0.711	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911	
MECR	51102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	29520573	29520573	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:29520573C>A	ENST00000263702.6	-	10	1108	c.1083G>T	c.(1081-1083)atG>atT	p.M361I	MECR_ENST00000373791.3_Missense_Mutation_p.M285I			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	361					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TGAAGGGCTTCATGGAGGCTT	0.592																																					p.M361I		.											.	MECR-91	0			c.G1083T						.						105.0	109.0	107.0					1																	29520573		2203	4300	6503	SO:0001583	missense	51102	exon10			GGGCTTCATGGAG		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.1083G>T	1.37:g.29520573C>A	ENSP00000263702:p.Met361Ile	76	0		102	29	NM_016011	0	0	0	0	0	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739576	0.49045	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.03468	3.92;4.0	5.61	5.61	0.85477	.	0.383925	0.34156	N	0.004209	T	0.08891	0.0220	M	0.80616	2.505	0.34843	D	0.740837	B	0.12630	0.006	B	0.08055	0.003	T	0.03514	-1.1029	10	0.39692	T	0.17	.	17.1336	0.86733	0.0:1.0:0.0:0.0	.	361	Q9BV79	MECR_HUMAN	I	285;361	ENSP00000362896:M285I;ENSP00000263702:M361I	ENSP00000263702:M361I	M	-	3	0	MECR	29393160	1.000000	0.71417	0.730000	0.30809	0.993000	0.82548	3.051000	0.49885	2.653000	0.90120	0.655000	0.94253	ATG	.		0.592	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011	
PTPRU	10076	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	29644272	29644272	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:29644272G>T	ENST00000345512.3	+	26	3685	c.3556G>T	c.(3556-3558)Gtc>Ttc	p.V1186F	PTPRU_ENST00000356870.3_Missense_Mutation_p.V1182F|PTPRU_ENST00000460170.2_Missense_Mutation_p.V1182F|PTPRU_ENST00000323874.8_Missense_Mutation_p.V1182F|PTPRU_ENST00000373779.3_Missense_Mutation_p.V1176F|PTPRU_ENST00000428026.2_Missense_Mutation_p.V1173F	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1186	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCTGAACTCGGTCACCCCGCC	0.657																																					p.V1186F		.											.	PTPRU-291	0			c.G3556T						.						70.0	57.0	61.0					1																	29644272		2203	4300	6503	SO:0001583	missense	10076	exon26			AACTCGGTCACCC	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3556G>T	1.37:g.29644272G>T	ENSP00000334941:p.Val1186Phe	35	1		108	32	NM_005704	0	0	0	0	0	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055453	0.93793	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51	4.62	4.62	0.57501	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.64402	D	0.000001	T	0.30479	0.0766	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.62365	0.991;0.991;0.991;0.985;0.985	P;P;P;P;P	0.60789	0.879;0.879;0.879;0.759;0.776	T	0.00899	-1.1522	9	.	.	.	.	17.0229	0.86438	0.0:0.0:1.0:0.0	.	1173;1182;1176;1182;1186	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	F	1186;1176;1182;1182;1173;1182	ENSP00000334941:V1186F;ENSP00000362884:V1176F;ENSP00000349333:V1182F;ENSP00000314987:V1182F;ENSP00000392332:V1173F;ENSP00000432906:V1182F	.	V	+	1	0	PTPRU	29516859	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.648000	0.98483	2.546000	0.85860	0.655000	0.94253	GTC	.		0.657	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
PUM1	9698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	31447604	31447604	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:31447604C>A	ENST00000257075.5	-	10	1493	c.1400G>T	c.(1399-1401)gGa>gTa	p.G467V	PUM1_ENST00000373741.4_Missense_Mutation_p.G503V|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000440538.2_Missense_Mutation_p.G468V|PUM1_ENST00000424085.2_Missense_Mutation_p.G225V|PUM1_ENST00000373742.2_Missense_Mutation_p.G408V|PUM1_ENST00000426105.2_Missense_Mutation_p.G467V|PUM1_ENST00000373747.3_Missense_Mutation_p.G468V|PUM1_ENST00000423018.2_Missense_Mutation_p.G371V	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	467	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGGGTAGACTCCCCAGGGAGT	0.512																																					p.G467V		.											.	PUM1-92	0			c.G1400T						.						47.0	47.0	47.0					1																	31447604		2203	4300	6503	SO:0001583	missense	9698	exon10			TAGACTCCCCAGG	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1400G>T	1.37:g.31447604C>A	ENSP00000257075:p.Gly467Val	85	0		116	46	NM_014676	0	0	0	0	0	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301757	0.95601	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T;T	0.29917	1.79;1.55;1.8;1.79;1.6;1.76;1.77;1.59	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.996;1.0;0.998;1.0;1.0;1.0;1.0	T	0.55780	-0.8087	10	0.87932	D	0	-6.9328	20.8598	0.99761	0.0:1.0:0.0:0.0	.	408;371;503;468;467;467;468;467	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.;.	V	225;467;468;205;467;468;503;371;408;467	ENSP00000400141:G225V;ENSP00000257075:G467V;ENSP00000362852:G468V;ENSP00000391723:G467V;ENSP00000401777:G468V;ENSP00000362846:G503V;ENSP00000399440:G371V;ENSP00000362847:G408V	ENSP00000257075:G467V	G	-	2	0	PUM1	31220191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.746000	0.85057	2.937000	0.99478	0.650000	0.86243	GGA	.		0.512	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1		
BAI2	576	bcgsc.ca	37	1	32196920	32196920	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:32196920C>A	ENST00000373658.3	-	29	4202	c.3861G>T	c.(3859-3861)gtG>gtT	p.V1287V	BAI2_ENST00000398547.1_Silent_p.V1220V|BAI2_ENST00000257070.4_Silent_p.V1254V|BAI2_ENST00000398538.1_Silent_p.V1275V|BAI2_ENST00000373655.2_Silent_p.V1287V|BAI2_ENST00000527361.1_Silent_p.V1254V|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.V896V|BAI2_ENST00000398556.3_Silent_p.V1202V|BAI2_ENST00000398542.1_Silent_p.V1187V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1287					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCTCAGGGCCCACGAGGCAGG	0.642																																					p.V1287V		.											.	BAI2-526	0			c.G3861T						.						33.0	27.0	29.0					1																	32196920		2203	4300	6503	SO:0001819	synonymous_variant	576	exon29			AGGGCCCACGAGG	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3861G>T	1.37:g.32196920C>A		309	4		406	210	NM_001703	0	0	0	0	0	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	CCDS346.2																																																																																			.		0.642	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703	
PTP4A2	8073	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	32374453	32374453	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:32374453C>T	ENST00000602725.1	-	5	921	c.504G>A	c.(502-504)taG>taA	p.*168*	PTP4A2_ENST00000470404.1_3'UTR|PTP4A2_ENST00000356536.3_3'UTR|PTP4A2_ENST00000457805.2_Silent_p.*137*|PTP4A2_ENST00000344035.6_Silent_p.*168*|RP11-84A19.4_ENST00000602889.1_lincRNA			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	0					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				ACATTTCCTTCTACTGAACAC	0.428																																					p.X168X		.											.	PTP4A2-650	0			c.G504A						.						167.0	149.0	155.0					1																	32374453		2203	4300	6503	SO:0001819	synonymous_variant	8073	exon6			TTCCTTCTACTGA	L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.504G>A	1.37:g.32374453C>T		91	0		92	41	NM_080391	0	0	0	0	0	A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Silent	SNP	ENST00000602725.1	37	CCDS348.1																																																																																			.		0.428	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1	NM_080391	
LCK	3932	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	32741016	32741016	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:32741016G>T	ENST00000336890.5	+	5	511	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	LCK_ENST00000373564.3_Nonsense_Mutation_p.E183*|LCK_ENST00000333070.4_Nonsense_Mutation_p.E125*	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	125					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	CCTGGAGCCCGAACCGTAAGT	0.647			T	TRB@	T-ALL																																p.E125X		.		Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	.	LCK-1378	0			c.G373T						.						44.0	41.0	42.0					1																	32741016		2203	4300	6503	SO:0001587	stop_gained	3932	exon5			GAGCCCGAACCGT	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.373G>T	1.37:g.32741016G>T	ENSP00000337825:p.Glu125*	292	0		398	198	NM_005356	0	0	0	0	0	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Nonsense_Mutation	SNP	ENST00000336890.5	37	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	32	5.174824	0.94807	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000373562;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.1445	0.89651	0.0:0.0:1.0:0.0	.	.	.	.	X	125;183;125;125;169;125;169;183	.	ENSP00000328213:E125X	E	+	1	0	LCK	32513603	1.000000	0.71417	0.996000	0.52242	0.742000	0.42306	7.992000	0.88273	2.662000	0.90505	0.555000	0.69702	GAA	.		0.647	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356	
CSMD2	114784	ucsc.edu;bcgsc.ca	37	1	34006180	34006180	+	Silent	SNP	C	C	G	rs1532308	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:34006180C>G	ENST00000373381.4	-	60	9752	c.9576G>C	c.(9574-9576)gcG>gcC	p.A3192A		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3168	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGTGAACACCGCGGGCAGGG	0.577																																					p.A3048A		.											.	CSMD2-103	0			c.G9144C						.						109.0	93.0	99.0					1																	34006180		2203	4300	6503	SO:0001819	synonymous_variant	114784	exon59			GAACACCGCGGGC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9576G>C	1.37:g.34006180C>G		280	3		390	201	NM_052896	0	0	0	0	0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37																																																																																				C|0.991;T|0.009		0.577	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
HMGB4	127540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	34329806	34329806	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:34329806T>A	ENST00000522796.1	+	4	1919	c.14T>A	c.(13-15)aTc>aAc	p.I5N	HMGB4_ENST00000425537.1_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.I5N|CSMD2_ENST00000373381.4_Intron			Q8WW32	HMGB4_HUMAN	high mobility group box 4	5						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAAAAGAAATCCAGCTAAAG	0.418																																					p.I5N		.											.	HMGB4-90	0			c.T14A						.						79.0	80.0	79.0					1																	34329806		2203	4300	6503	SO:0001583	missense	127540	exon2			AAGAAATCCAGCT		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.14T>A	1.37:g.34329806T>A	ENSP00000430919:p.Ile5Asn	145	0		163	37	NM_145205	0	0	0	0	0	B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.864278	0.32977	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	D;D	0.90732	-2.72;-2.72	5.41	-10.0	0.00425	.	1.033100	0.07708	N	0.941520	T	0.74733	0.3755	N	0.19112	0.55	0.09310	N	1	B	0.27625	0.183	B	0.19391	0.025	T	0.63422	-0.6641	10	0.66056	D	0.02	.	0.4462	0.00494	0.308:0.2721:0.2106:0.2093	.	5	B2R4X7	.	N	5	ENSP00000429214:I5N;ENSP00000430919:I5N	ENSP00000429214:I5N	I	+	2	0	HMGB4	34102393	0.000000	0.05858	0.000000	0.03702	0.883000	0.51084	-0.506000	0.06359	-2.268000	0.00685	0.533000	0.62120	ATC	.		0.418	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205	
C1orf94	84970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	34662954	34662954	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:34662954C>A	ENST00000488417.1	+	2	569	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	150										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)				CCCGGCAGCTCTCCCGAGGGG	0.587																																					p.S150Y		.											.	C1orf94-90	0			c.C449A						.						34.0	37.0	36.0					1																	34662954		692	1591	2283	SO:0001583	missense	84970	exon2			GCAGCTCTCCCGA	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.449C>A	1.37:g.34662954C>A	ENSP00000435634:p.Ser150Tyr	81	0		100	20	NM_001134734	0	0	0	0	0	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	5.707	0.314918	0.10789	.	.	ENSG00000142698	ENST00000488417	T	0.24538	1.85	5.17	-0.557	0.11800	.	.	.	.	.	T	0.15219	0.0367	N	0.22421	0.69	0.09310	N	1	P	0.35328	0.495	B	0.37304	0.246	T	0.20739	-1.0266	9	0.59425	D	0.04	-24.6253	3.1117	0.06361	0.2862:0.3514:0.2791:0.0834	.	150	Q6P1W5	CA094_HUMAN	Y	150	ENSP00000435634:S150Y	ENSP00000435634:S150Y	S	+	2	0	C1orf94	34435541	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.059000	0.11731	-0.402000	0.07633	0.655000	0.94253	TCT	.		0.587	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884	
C1orf94	84970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	34663403	34663403	+	Missense_Mutation	SNP	C	C	A	rs367889351	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:34663403C>A	ENST00000488417.1	+	2	1018	c.898C>A	c.(898-900)Cgt>Agt	p.R300S	C1orf94_ENST00000373374.3_Missense_Mutation_p.R110S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	300										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)				TCCTCCTGCACGTCCTGACAA	0.607																																					p.R300S		.											.	C1orf94-90	0			c.C898A						.						59.0	53.0	55.0					1																	34663403		2203	4300	6503	SO:0001583	missense	84970	exon2			CCTGCACGTCCTG	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.898C>A	1.37:g.34663403C>A	ENSP00000435634:p.Arg300Ser	101	0		107	53	NM_001134734	0	0	0	0	0	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	0.361	-0.939512	0.02322	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.21543	2.0;2.0	4.46	-2.65	0.06095	.	1.913230	0.02346	N	0.075366	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17077	-1.0381	10	0.32370	T	0.25	-25.7676	3.4467	0.07483	0.2715:0.2414:0.3995:0.0875	.	300	Q6P1W5	CA094_HUMAN	S	110;300	ENSP00000362472:R110S;ENSP00000435634:R300S	ENSP00000362472:R110S	R	+	1	0	C1orf94	34435990	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.455000	0.06762	-0.791000	0.04486	-0.310000	0.09108	CGT	.		0.607	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884	
RSPO1	284654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	38078537	38078537	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:38078537C>T	ENST00000401069.1	-	7	1394	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	RSPO1_ENST00000401070.1_Missense_Mutation_p.A165T|RSPO1_ENST00000401071.2_Missense_Mutation_p.A165T|RSPO1_ENST00000356545.2_Missense_Mutation_p.A228T|RSPO1_ENST00000373059.1_Missense_Mutation_p.A201T|RSPO1_ENST00000401068.1_Missense_Mutation_p.A228T	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	228					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTTCCTGGCCAGGTTCCTG	0.602																																					p.A228T	GBM(122;680 2230 27822 42821)	.											.	RSPO1-22	0			c.G682A						.						65.0	72.0	69.0					1																	38078537		2098	4229	6327	SO:0001583	missense	284654	exon7			TCCTGGCCAGGTT	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.682G>A	1.37:g.38078537C>T	ENSP00000383847:p.Ala228Thr	94	0		95	27	NM_001242908	0	0	0	0	0	A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695775	0.30052	.	.	ENSG00000169218	ENST00000373059;ENST00000401070;ENST00000356545;ENST00000401071;ENST00000401069;ENST00000401068	T;D;T;D;T;T	0.86432	-0.96;-2.12;-0.96;-2.12;-0.96;-0.96	5.94	1.31	0.21738	.	1.064940	0.07055	N	0.832669	T	0.74612	0.3739	N	0.14661	0.345	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	0.56153	-0.8026	10	0.15952	T	0.53	-2.3768	7.5121	0.27579	0.0:0.4695:0.0:0.5305	.	165;201;228	Q0H8S6;Q2MKA7-2;Q2MKA7	.;.;RSPO1_HUMAN	T	201;165;228;165;228;228	ENSP00000362150:A201T;ENSP00000383848:A165T;ENSP00000348944:A228T;ENSP00000383849:A165T;ENSP00000383847:A228T;ENSP00000383846:A228T	ENSP00000348944:A228T	A	-	1	0	RSPO1	37851124	0.001000	0.12720	0.012000	0.15200	0.675000	0.39556	-0.118000	0.10692	0.005000	0.14708	0.561000	0.74099	GCC	.		0.602	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640	
EPHA10	284656	hgsc.bcm.edu	37	1	38227086	38227086	+	Missense_Mutation	SNP	A	A	T	rs4653328	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:38227086A>T	ENST00000373048.4	-	3	840	c.841T>A	c.(841-843)Ttc>Atc	p.F281I	EPHA10_ENST00000427468.2_Missense_Mutation_p.F281I|EPHA10_ENST00000319637.6_Missense_Mutation_p.F281I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	281			F -> I (in dbSNP:rs4653328). {ECO:0000269|PubMed:17344846}.		ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTTCGCAGAAGTCACCACGC	0.667													T|||	1769	0.353235	0.4402	0.3012	5008	,	,		11536	0.4831		0.2833	False		,,,				2504	0.2106				p.F281I		.											.	EPHA10-1246	0			c.T841A						.	T	ILE/PHE,ILE/PHE	1706,2604		311,1084,760	59.0	63.0	62.0		841,841	-1.5	0.8	1	dbSNP_111	62	2269,6083		305,1659,2212	yes	missense,missense	EPHA10	NM_001099439.1,NM_173641.2	21,21	616,2743,2972	TT,TA,AA		27.1671,39.5824,31.3931	benign,benign	281/1009,281/296	38227086	3975,8687	2155	4176	6331	SO:0001583	missense	284656	exon3			CGCAGAAGTCACC	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.841T>A	1.37:g.38227086A>T	ENSP00000362139:p.Phe281Ile	2	0		16	10	NM_001099439	0	0	0	0	0	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	785	0.35943223443223443	208	0.42276422764227645	97	0.26795580110497236	252	0.4405594405594406	228	0.3007915567282322	T	7.996	0.754258	0.15778	0.395824	0.271671	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	D;D;T	0.97279	-4.32;-4.32;4.58	4.23	-1.55	0.08558	.	0.934531	0.08818	N	0.889212	T	0.00012	0.0000	N	0.01352	-0.895	0.09310	P	0.999999624185	B;B	0.10296	0.0;0.003	B;B	0.04013	0.0;0.001	T	0.26121	-1.0112	9	0.25751	T	0.34	.	3.9977	0.09566	0.3304:0.2198:0.0:0.4498	rs4653328;rs52814760;rs4653328	281;281	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	I	281	ENSP00000397746:F281I;ENSP00000362139:F281I;ENSP00000316395:F281I	ENSP00000316395:F281I	F	-	1	0	EPHA10	37999673	0.003000	0.15002	0.803000	0.32268	0.397000	0.30659	-0.342000	0.07801	-0.327000	0.08551	-1.255000	0.01485	TTC	A|0.665;T|0.335		0.667	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
MACF1	23499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	39549943	39549943	+	Missense_Mutation	SNP	G	G	T	rs372116509		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:39549943G>T	ENST00000372915.3	+	1	140	c.53G>T	c.(52-54)cGg>cTg	p.R18L	MACF1_ENST00000539005.1_Missense_Mutation_p.R18L|MACF1_ENST00000361689.2_Missense_Mutation_p.R18L|MACF1_ENST00000484793.1_Missense_Mutation_p.R18L|MACF1_ENST00000545844.1_Missense_Mutation_p.R18L|MACF1_ENST00000567887.1_Missense_Mutation_p.R18L|MACF1_ENST00000317713.7_Missense_Mutation_p.R18L|MACF1_ENST00000602421.1_Missense_Mutation_p.R18L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	18	Actin-binding.				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)	p.R18Q(1)		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)			CGGAGTGAGCGGTCTTGTCGG	0.647																																					p.R18L		.											.	MACF1-165	1	Substitution - Missense(1)	large_intestine(1)	c.G53T						.						69.0	62.0	64.0					1																	39549943		2203	4300	6503	SO:0001583	missense	23499	exon3			GTGAGCGGTCTTG	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.53G>T	1.37:g.39549943G>T	ENSP00000362006:p.Arg18Leu	101	0		138	33	NM_012090	0	0	0	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	18.87	3.715195	0.68844	.	.	ENSG00000127603	ENST00000484793;ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005	T;T;T;T;T	0.64991	-0.1;-0.08;-0.1;-0.13;0.06	5.35	5.35	0.76521	.	.	.	.	.	T	0.56761	0.2007	N	0.08118	0	0.80722	D	1	D	0.56035	0.974	P	0.55545	0.778	T	0.62445	-0.6853	9	0.41790	T	0.15	.	16.5556	0.84484	0.0:0.0:1.0:0.0	.	18	F8W8Q1	.	L	18;18;18;18;34;18;18	ENSP00000439537:R18L;ENSP00000362006:R18L;ENSP00000354573:R18L;ENSP00000313438:R18L;ENSP00000444364:R18L	ENSP00000313438:R18L	R	+	2	0	MACF1	39322530	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.948000	0.75965	2.500000	0.84329	0.655000	0.94253	CGG	.		0.647	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	39818684	39818684	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:39818684A>T	ENST00000372915.3	+	43	11307	c.11220A>T	c.(11218-11220)aaA>aaT	p.K3740N	MACF1_ENST00000289893.4_Missense_Mutation_p.K2175N|MACF1_ENST00000539005.1_Missense_Mutation_p.K1673N|MACF1_ENST00000361689.2_Missense_Mutation_p.K1673N|MACF1_ENST00000545844.1_Missense_Mutation_p.K1673N|MACF1_ENST00000564288.1_Missense_Mutation_p.K3735N|MACF1_ENST00000567887.1_Missense_Mutation_p.K3772N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.K1673N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3740					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)			TTCAGAGTAAAGCAGCAAAGG	0.453																																					p.K1673N		.											.	MACF1-165	0			c.A5019T						.						72.0	62.0	65.0					1																	39818684		2203	4300	6503	SO:0001583	missense	23499	exon40			GAGTAAAGCAGCA	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.11220A>T	1.37:g.39818684A>T	ENSP00000362006:p.Lys3740Asn	66	0		64	29	NM_012090	0	0	0	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.032984|4.032984	0.75504|0.75504	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;D;T|.	0.88046|.	-0.05;-0.06;-0.05;-0.09;0.1;-2.33;1.03|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.63034|0.63034	0.2477|0.2477	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D;B|.	0.76494|.	0.999;0.99;0.97;0.364|.	D;D;P;B|.	0.75020|.	0.985;0.923;0.839;0.17|.	T|T	0.62315|0.62315	-0.6880|-0.6880	10|5	0.42905|.	T|.	0.14|.	.|.	10.8439|10.8439	0.46733|0.46733	0.8592:0.0:0.0:0.1408|0.8592:0.0:0.0:0.1408	.|.	3740;1673;1673;1638|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	N|C	1673;3740;1673;1673;1673;1822;2175|807	ENSP00000439537:K1673N;ENSP00000362006:K3740N;ENSP00000354573:K1673N;ENSP00000313438:K1673N;ENSP00000444364:K1673N;ENSP00000437059:K1822N;ENSP00000289893:K2175N|.	ENSP00000289893:K2175N|.	K|S	+|+	3|1	2|0	MACF1|MACF1	39591271|39591271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	2.851000|2.851000	0.48302|0.48302	2.095000|2.095000	0.63458|0.63458	0.454000|0.454000	0.30748|0.30748	AAA|AGC	.		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
HIVEP3	59269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	42045967	42045967	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:42045967C>A	ENST00000372583.1	-	4	5387	c.4502G>T	c.(4501-4503)aGc>aTc	p.S1501I	HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1501I|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1501I|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1501I	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1501					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGAGGACAGGCTGGACAGCAT	0.552																																					p.S1501I		.											.	HIVEP3-157	0			c.G4502T						.						92.0	103.0	99.0					1																	42045967		2203	4300	6503	SO:0001583	missense	59269	exon4			GACAGGCTGGACA	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4502G>T	1.37:g.42045967C>A	ENSP00000361664:p.Ser1501Ile	103	0		133	35	NM_024503	0	0	0	0	0	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	7.561	0.664646	0.14710	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08370	3.13;3.1;3.1;3.13	5.24	3.35	0.38373	.	0.312255	0.27901	N	0.017396	T	0.09423	0.0232	M	0.63843	1.955	0.09310	N	1	P;P	0.42203	0.773;0.664	B;B	0.39465	0.3;0.157	T	0.23440	-1.0188	10	0.87932	D	0	-2.4272	5.0573	0.14539	0.1396:0.5134:0.2713:0.0757	.	1501;1501	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	I	1501	ENSP00000361665:S1501I;ENSP00000361664:S1501I;ENSP00000247584:S1501I;ENSP00000410828:S1501I	ENSP00000247584:S1501I	S	-	2	0	HIVEP3	41818554	0.000000	0.05858	0.253000	0.24343	0.664000	0.39144	0.004000	0.13106	0.773000	0.33404	0.563000	0.77884	AGC	.		0.552	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
HIVEP3	59269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	42047294	42047294	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:42047294A>G	ENST00000372583.1	-	4	4060	c.3175T>C	c.(3175-3177)Ttg>Ctg	p.L1059L	HIVEP3_ENST00000372584.1_Silent_p.L1059L|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Silent_p.L1059L|HIVEP3_ENST00000429157.2_Silent_p.L1059L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1059	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCAACCTCCAACTCAGATTCT	0.587																																					p.L1059L		.											.	HIVEP3-157	0			c.T3175C						.						48.0	52.0	51.0					1																	42047294		2203	4300	6503	SO:0001819	synonymous_variant	59269	exon4			CCTCCAACTCAGA	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3175T>C	1.37:g.42047294A>G		94	0		114	21	NM_024503	0	0	0	0	0	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	CCDS463.1																																																																																			.		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
TCTEX1D4	343521	broad.mit.edu	37	1	45271742	45271742	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:45271742G>A	ENST00000339355.2	-	1	605	c.599C>T	c.(598-600)gCc>gTc	p.A200V	BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000453418.1_5'Flank|TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.A200V|BTBD19_ENST00000409335.2_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	200						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGAGACCGAGGCCAGCCCATC	0.637																																					p.A200V		.											.	TCTEX1D4-91	0			c.C599T						.						17.0	21.0	20.0					1																	45271742		2202	4298	6500	SO:0001583	missense	343521	exon2			ACCGAGGCCAGCC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"""novel Tctex-1 family domain-containing protein"""	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.599C>T	1.37:g.45271742G>A	ENSP00000341803:p.Ala200Val	26	0		67	5	NM_001013632	0	0	0	0	0		Missense_Mutation	SNP	ENST00000339355.2	37	CCDS30699.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919475	0.73098	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	T;T	0.28666	1.6;1.6	5.43	4.52	0.55395	.	0.077734	0.50627	D	0.000107	T	0.30166	0.0756	L	0.48877	1.53	0.42293	D	0.99214	P	0.47253	0.892	P	0.47827	0.558	T	0.06570	-1.0819	10	0.09338	T	0.73	-5.301	11.0788	0.48047	0.0867:0.0:0.9133:0.0	.	200	Q5JR98	TC1D4_HUMAN	V	200	ENSP00000341803:A200V;ENSP00000361274:A200V	ENSP00000341803:A200V	A	-	2	0	TCTEX1D4	45044329	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	5.420000	0.66441	1.291000	0.44653	0.555000	0.69702	GCC	.		0.637	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632	
ELAVL4	1996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	50610817	50610817	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:50610817C>T	ENST00000371823.4	+	2	422	c.198C>T	c.(196-198)ttC>ttT	p.F66F	ELAVL4_ENST00000371821.1_Silent_p.F71F|ELAVL4_ENST00000357083.4_Silent_p.F83F|ELAVL4_ENST00000371827.1_Silent_p.F66F|ELAVL4_ENST00000448907.2_Silent_p.F69F|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371819.1_Silent_p.F71F|ELAVL4_ENST00000371824.1_Silent_p.F66F	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	66	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGAGTCTCTTCGGGAGCATTG	0.433																																					p.F83F		.											.	ELAVL4-516	0			c.C249T						.						95.0	93.0	93.0					1																	50610817		2203	4300	6503	SO:0001819	synonymous_variant	1996	exon2			TCTCTTCGGGAGC	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.198C>T	1.37:g.50610817C>T		181	0		187	73	NM_001144775	0	0	0	0	0	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	ENST00000371823.4	37	CCDS553.1																																																																																			.		0.433	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952	
ELAVL4	1996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	50659488	50659488	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:50659488G>T	ENST00000371823.4	+	4	630	c.406G>T	c.(406-408)Gtt>Ttt	p.V136F	ELAVL4_ENST00000371821.1_Missense_Mutation_p.V141F|ELAVL4_ENST00000357083.4_Missense_Mutation_p.V153F|ELAVL4_ENST00000371827.1_Missense_Mutation_p.V136F|ELAVL4_ENST00000448907.2_Missense_Mutation_p.V139F|ELAVL4_ENST00000371819.1_Missense_Mutation_p.V141F|ELAVL4_ENST00000371824.1_Missense_Mutation_p.V136F	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	136	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TAACCTCTATGTTAGCGGCCT	0.498																																					p.V153F		.											.	ELAVL4-516	0			c.G457T						.						172.0	153.0	159.0					1																	50659488		2203	4300	6503	SO:0001583	missense	1996	exon4			CTCTATGTTAGCG	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.406G>T	1.37:g.50659488G>T	ENSP00000360888:p.Val136Phe	219	0		259	62	NM_001144775	0	0	0	0	0	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604080	0.87157	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;0.998;0.998	D;D;D;D;D;D;D	0.91635	0.983;0.999;0.993;0.992;0.978;0.927;0.975	T	0.71560	-0.4556	10	0.87932	D	0	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	141;141;136;136;153;136;139	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	F	139;136;153;136;136;141;141	ENSP00000399939:V139F;ENSP00000360892:V136F;ENSP00000349594:V153F;ENSP00000360889:V136F;ENSP00000360888:V136F;ENSP00000360886:V141F;ENSP00000360884:V141F	ENSP00000349594:V153F	V	+	1	0	ELAVL4	50432075	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.807000	0.99171	2.906000	0.99361	0.655000	0.94253	GTT	.		0.498	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952	
ZFYVE9	9372	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	52740214	52740214	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:52740214G>C	ENST00000371591.1	+	7	2835	c.2704G>C	c.(2704-2706)Gat>Cat	p.D902H	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.D902H|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D843H	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	902					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TATTCCTGAAGATGGCCTTCC	0.393																																					p.D902H		.											.	ZFYVE9-230	0			c.G2704C						.						168.0	150.0	156.0					1																	52740214		2203	4300	6503	SO:0001583	missense	9372	exon8			CCTGAAGATGGCC	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2704G>C	1.37:g.52740214G>C	ENSP00000360647:p.Asp902His	119	0		125	8	NM_004799	0	0	0	0	0	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831185	0.91036	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.48522	0.95;0.81;0.81	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.64713	0.2623	L	0.47716	1.5	0.80722	D	1	D;P	0.89917	1.0;0.803	D;P	0.91635	0.999;0.636	T	0.67213	-0.5727	10	0.87932	D	0	.	18.9139	0.92496	0.0:0.0:1.0:0.0	.	843;902	O95405-2;O95405	.;ZFYV9_HUMAN	H	843;902;902	ENSP00000349737:D843H;ENSP00000287727:D902H;ENSP00000360647:D902H	ENSP00000287727:D902H	D	+	1	0	ZFYVE9	52512802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.499000	0.97975	2.465000	0.83290	0.655000	0.94253	GAT	.		0.393	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
WDR78	79819	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	67306280	67306280	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:67306280C>T	ENST00000371026.3	-	9	1421	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	WDR78_ENST00000371023.3_Missense_Mutation_p.E456K|WDR78_ENST00000431318.1_Missense_Mutation_p.E202K	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	456	Glu-rich.				hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCTTCCTCCTCCTTCTTAGAT	0.388																																					p.E456K		.											.	WDR78-92	0			c.G1366A						.						174.0	175.0	175.0					1																	67306280		2203	4300	6503	SO:0001583	missense	79819	exon9			CCTCCTCCTTCTT	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1366G>A	1.37:g.67306280C>T	ENSP00000360065:p.Glu456Lys	98	0		143	38	NM_207014	0	0	0	0	0	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778589	0.31502	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000531552	T;T;T;T;T	0.68903	0.35;-0.36;-0.36;2.07;1.57	5.92	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);	0.509176	0.22899	N	0.054288	T	0.48223	0.1488	L	0.57536	1.79	0.40266	D	0.97823	P;B;B	0.40398	0.716;0.394;0.394	B;B;B	0.36845	0.234;0.079;0.079	T	0.56189	-0.8020	10	0.46703	T	0.11	-9.5581	10.3119	0.43714	0.0:0.7879:0.1377:0.0744	.	202;456;456	Q5VTH9-3;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	K	456;202;222;456;78	ENSP00000360065:E456K;ENSP00000393182:E202K;ENSP00000433682:E222K;ENSP00000360062:E456K;ENSP00000433037:E78K	ENSP00000360062:E456K	E	-	1	0	WDR78	67078868	0.085000	0.21516	1.000000	0.80357	0.216000	0.24613	1.849000	0.39318	2.794000	0.96219	0.650000	0.86243	GAG	.		0.388	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	
LRRC7	57554	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	70446116	70446116	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:70446116G>T	ENST00000035383.5	+	7	682	c.652G>T	c.(652-654)Gca>Tca	p.A218S	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Missense_Mutation_p.A223S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	218						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGATAATAATGCATTACAAGT	0.333																																					p.A218S		.											.	LRRC7-163	0			c.G652T						.						189.0	193.0	192.0					1																	70446116		2203	4300	6503	SO:0001583	missense	57554	exon7			AATAATGCATTAC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.652G>T	1.37:g.70446116G>T	ENSP00000035383:p.Ala218Ser	74	0		72	25	NM_020794	0	0	0	0	0	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286678	0.23478	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.55413	0.52;0.52	5.25	5.25	0.73442	.	0.060414	0.64402	D	0.000003	T	0.17959	0.0431	N	0.11284	0.12	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.06320	-1.0833	10	0.28530	T	0.3	.	11.9495	0.52946	0.0:0.0:0.8151:0.1849	.	218	Q96NW7	LRRC7_HUMAN	S	223;218;41	ENSP00000309245:A223S;ENSP00000035383:A218S	ENSP00000035383:A218S	A	+	1	0	LRRC7	70218704	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.248000	0.58760	2.608000	0.88229	0.650000	0.86243	GCA	.		0.333	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	70504166	70504166	+	Missense_Mutation	SNP	C	C	A	rs267598707		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:70504166C>A	ENST00000035383.5	+	19	2575	c.2545C>A	c.(2545-2547)Cct>Act	p.P849T	LRRC7_ENST00000415775.2_Missense_Mutation_p.P133T|LRRC7_ENST00000310961.5_Missense_Mutation_p.P854T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	849						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GACCAGAACCCCTAGTCCGTT	0.483																																					p.P849T		.											.	LRRC7-163	0			c.C2545A						.						74.0	83.0	80.0					1																	70504166		2203	4300	6503	SO:0001583	missense	57554	exon19			AGAACCCCTAGTC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2545C>A	1.37:g.70504166C>A	ENSP00000035383:p.Pro849Thr	228	0		269	59	NM_020794	0	0	0	0	0	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794930	0.70452	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.61980	0.06;0.18;1.3	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.63849	-0.6544	10	0.28530	T	0.3	.	18.9808	0.92755	0.0:1.0:0.0:0.0	.	133;849;849	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	854;849;133;672	ENSP00000309245:P854T;ENSP00000035383:P849T;ENSP00000394867:P133T	ENSP00000035383:P849T	P	+	1	0	LRRC7	70276754	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.466000	0.80914	2.729000	0.93468	0.467000	0.42956	CCT	.		0.483	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	70505345	70505345	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:70505345G>A	ENST00000035383.5	+	19	3754	c.3724G>A	c.(3724-3726)Gac>Aac	p.D1242N	LRRC7_ENST00000415775.2_Missense_Mutation_p.D526N|LRRC7_ENST00000310961.5_Missense_Mutation_p.D1247N	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1242						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAACTATGGTGACAAGCCATC	0.478																																					p.D1242N		.											.	LRRC7-163	0			c.G3724A						.						90.0	85.0	87.0					1																	70505345		2203	4300	6503	SO:0001583	missense	57554	exon19			TATGGTGACAAGC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3724G>A	1.37:g.70505345G>A	ENSP00000035383:p.Asp1242Asn	126	1		139	31	NM_020794	0	0	0	0	0	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950084	0.53186	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37411	1.2;1.27;2.36	6.16	6.16	0.99307	.	0.049365	0.85682	D	0.000000	T	0.18509	0.0444	N	0.08118	0	0.50813	D	0.999897	D;P;P	0.53312	0.959;0.873;0.651	P;P;B	0.46076	0.503;0.461;0.212	T	0.03374	-1.1043	10	0.45353	T	0.12	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	526;1242;1242	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	N	1247;1242;526;1065	ENSP00000309245:D1247N;ENSP00000035383:D1242N;ENSP00000394867:D526N	ENSP00000035383:D1242N	D	+	1	0	LRRC7	70277933	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	9.328000	0.96403	2.937000	0.99478	0.650000	0.86243	GAC	.		0.478	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
SRSF11	9295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	70701183	70701183	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:70701183G>A	ENST00000370950.3	+	6	622		c.e6-1		SRSF11_ENST00000436161.2_Splice_Site|SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000484162.1_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site|SRSF11_ENST00000370949.1_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						TATTTTTACAGTCTCTTGCTG	0.338																																					.		.											.	SRSF11-227	0			c.541-1G>A						.						169.0	158.0	162.0					1																	70701183		2203	4300	6503	SO:0001630	splice_region_variant	9295	exon6			TTTACAGTCTCTT	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.541-1G>A	1.37:g.70701183G>A		40	0		31	7	NM_001190987	0	0	0	0	0	Q5T758|Q8IWE6	Splice_Site	SNP	ENST00000370950.3	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701288	0.68501	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.692	0.96007	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRSF11	70473771	1.000000	0.71417	0.997000	0.53966	0.669000	0.39330	8.823000	0.92018	2.660000	0.90430	0.484000	0.47621	.	.		0.338	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	Intron
LRRIQ3	127255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	74507594	74507594	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:74507594C>A	ENST00000395089.1	-	6	1020	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.V341L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	341										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCATCCACAATTTCATCT	0.303																																					p.V341L		.											.	LRRIQ3-92	0			c.G1021T						.						34.0	34.0	34.0					1																	74507594		1818	4022	5840	SO:0001583	missense	127255	exon7			CATCCACAATTTC	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1021G>T	1.37:g.74507594C>A	ENSP00000378524:p.Val341Leu	19	0		31	9	NM_001105659	0	0	0	0	0	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716183	0.15306	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.08102	3.13;3.13	5.44	2.58	0.30949	.	0.457213	0.16197	N	0.225113	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B	0.25105	0.118	B	0.20767	0.031	T	0.45644	-0.9247	10	0.48119	T	0.1	.	7.9284	0.29889	0.0:0.7426:0.0:0.2574	.	341	A6PVS8	LRIQ3_HUMAN	L	341	ENSP00000378524:V341L;ENSP00000346414:V341L	ENSP00000346414:V341L	V	-	1	0	LRRIQ3	74280182	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.342000	0.19926	0.375000	0.24679	-0.145000	0.13849	GTG	.		0.303	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	
LHX8	431707	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	75622718	75622718	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:75622718C>A	ENST00000294638.5	+	9	1615	c.951C>A	c.(949-951)ccC>ccA	p.P317P	LHX8_ENST00000356261.3_Silent_p.P307P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	317					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCTACGTGCCCCAAGATGGAA	0.493																																					p.P317P		.											.	LHX8-93	0			c.C951A						.						224.0	194.0	204.0					1																	75622718		2203	4300	6503	SO:0001819	synonymous_variant	431707	exon9			CGTGCCCCAAGAT	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.951C>A	1.37:g.75622718C>A		205	0		237	58	NM_001001933	0	0	0	0	0	E9PGE3	Silent	SNP	ENST00000294638.5	37	CCDS30756.1																																																																																			.		0.493	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933	
ASB17	127247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	76397853	76397853	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:76397853A>C	ENST00000284142.6	-	1	263	c.124T>G	c.(124-126)Tgt>Ggt	p.C42G		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	42					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GGTTCGTAACAGTGATATCCC	0.403																																					p.C42G		.											.	ASB17-227	0			c.T124G						.						129.0	124.0	126.0					1																	76397853		2203	4300	6503	SO:0001583	missense	127247	exon1			CGTAACAGTGATA	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.124T>G	1.37:g.76397853A>C	ENSP00000284142:p.Cys42Gly	121	0		166	38	NM_080868	0	0	0	0	0	B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	CCDS671.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.779126	0.49891	.	.	ENSG00000154007	ENST00000284142	T	0.34667	1.35	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000005	T	0.36853	0.0982	L	0.27053	0.805	0.42692	D	0.993581	D	0.71674	0.998	D	0.75484	0.986	T	0.40850	-0.9541	10	0.87932	D	0	.	13.0348	0.58864	1.0:0.0:0.0:0.0	.	42	Q8WXJ9	ASB17_HUMAN	G	42	ENSP00000284142:C42G	ENSP00000284142:C42G	C	-	1	0	ASB17	76170441	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.918000	0.48829	2.330000	0.79161	0.533000	0.62120	TGT	.		0.403	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868	
ST6GALNAC3	256435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	76877898	76877898	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:76877898C>T	ENST00000328299.3	+	3	567	c.419C>T	c.(418-420)cCt>cTt	p.P140L	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	140					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTAAAAAACCCTGATTATTTT	0.418																																					p.P140L		.											.	ST6GALNAC3-95	0			c.C419T						.						115.0	116.0	116.0					1																	76877898		2203	4300	6503	SO:0001583	missense	256435	exon3			AAAACCCTGATTA		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.419C>T	1.37:g.76877898C>T	ENSP00000329214:p.Pro140Leu	189	0		198	90	NM_001160011	0	0	0	0	0	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	CCDS672.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117733	0.56505	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.32023	1.47	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	M	0.72576	2.205	0.80722	D	1	B;P;P	0.41848	0.146;0.607;0.763	B;P;P	0.46208	0.158;0.507;0.463	T	0.04991	-1.0913	10	0.32370	T	0.25	-17.7653	16.1338	0.81465	0.1344:0.8656:0.0:0.0	.	75;140;140	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	L	140;140;139;74	ENSP00000329214:P140L	ENSP00000329214:P140L	P	+	2	0	ST6GALNAC3	76650486	0.820000	0.29190	1.000000	0.80357	0.995000	0.86356	1.702000	0.37836	1.602000	0.50124	0.655000	0.94253	CCT	.		0.418	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996	
AK5	26289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	77759610	77759610	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:77759610C>A	ENST00000354567.2	+	3	643	c.380C>A	c.(379-381)cCt>cAt	p.P127H	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000344720.5_Missense_Mutation_p.P101H	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	127					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GTTTTTGATCCTACCAGACCT	0.408																																					p.P127H		.											.	AK5-227	0			c.C380A						.						58.0	59.0	59.0					1																	77759610		2203	4300	6503	SO:0001583	missense	26289	exon3			TTGATCCTACCAG	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.380C>A	1.37:g.77759610C>A	ENSP00000346577:p.Pro127His	157	0		161	21	NM_174858	0	0	0	0	0	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726538	0.89298	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.83673	-0.64;-0.62;-1.75	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.86682	0.5991	L	0.52905	1.665	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64042	0.921;0.87	D	0.86430	0.1760	10	0.51188	T	0.08	-9.4089	18.9488	0.92632	0.0:1.0:0.0:0.0	.	127;103	Q9Y6K8;Q8N291	KAD5_HUMAN;.	H	127;101;101	ENSP00000346577:P127H;ENSP00000341430:P101H;ENSP00000434409:P101H	ENSP00000341430:P101H	P	+	2	0	AK5	77532198	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.434000	0.80377	2.568000	0.86640	0.561000	0.74099	CCT	.		0.408	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	
AK5	26289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	77987587	77987587	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:77987587T>A	ENST00000354567.2	+	12	1650	c.1387T>A	c.(1387-1389)Tat>Aat	p.Y463N	AK5_ENST00000344720.5_Missense_Mutation_p.Y437N	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	463	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GATTGACGGCTATCCTCGGGA	0.582																																					p.Y463N		.											.	AK5-227	0			c.T1387A						.						51.0	52.0	52.0					1																	77987587		2203	4300	6503	SO:0001583	missense	26289	exon12			GACGGCTATCCTC	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1387T>A	1.37:g.77987587T>A	ENSP00000346577:p.Tyr463Asn	57	0		90	43	NM_174858	0	0	0	0	0	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735802	0.89482	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.81078	-1.45;-1.45	4.76	4.76	0.60689	.	0.092804	0.45606	D	0.000351	D	0.88654	0.6495	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90859	0.4737	10	0.87932	D	0	-10.9543	13.5577	0.61770	0.0:0.0:0.0:1.0	.	463	Q9Y6K8	KAD5_HUMAN	N	463;437	ENSP00000346577:Y463N;ENSP00000341430:Y437N	ENSP00000341430:Y437N	Y	+	1	0	AK5	77760175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.257000	0.78362	1.898000	0.54952	0.528000	0.53228	TAT	.		0.582	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	
ELTD1	64123	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	79403806	79403806	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:79403806G>T	ENST00000370742.3	-	5	618	c.555C>A	c.(553-555)acC>acA	p.T185T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	185					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGTTAGAAAGGGTGTCCTTGG	0.323																																					p.T185T		.											.	ELTD1-24	0			c.C555A						.						106.0	100.0	102.0					1																	79403806		1844	4090	5934	SO:0001819	synonymous_variant	64123	exon5			AGAAAGGGTGTCC	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.555C>A	1.37:g.79403806G>T		221	3		195	38	NM_022159	0	0	0	0	0	B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	CCDS41352.1																																																																																			.		0.323	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
LPHN2	23266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	82372734	82372734	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:82372734G>T	ENST00000370728.1	+	6	751	c.106G>T	c.(106-108)Gtg>Ttg	p.V36L	LPHN2_ENST00000335786.5_Missense_Mutation_p.V36L|LPHN2_ENST00000394879.1_Missense_Mutation_p.V36L|LPHN2_ENST00000319517.6_Missense_Mutation_p.V36L|LPHN2_ENST00000370727.1_Missense_Mutation_p.V36L|LPHN2_ENST00000370715.1_Missense_Mutation_p.V36L|LPHN2_ENST00000359929.3_Missense_Mutation_p.V36L|LPHN2_ENST00000370717.2_Missense_Mutation_p.V36L|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_Missense_Mutation_p.V36L|LPHN2_ENST00000370730.1_Missense_Mutation_p.V36L|LPHN2_ENST00000370721.1_Missense_Mutation_p.V36L|LPHN2_ENST00000271029.4_Missense_Mutation_p.V36L|LPHN2_ENST00000370723.1_Missense_Mutation_p.V36L|LPHN2_ENST00000370725.1_Missense_Mutation_p.V36L			O95490	LPHN2_HUMAN	latrophilin 2	36					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTTGGGCTGGTGAGGCGAGA	0.378																																					p.V36L		.											.	LPHN2-525	0			c.G106T						.						72.0	70.0	71.0					1																	82372734		2203	4300	6503	SO:0001583	missense	23266	exon3			GGGCTGGTGAGGC	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.106G>T	1.37:g.82372734G>T	ENSP00000359763:p.Val36Leu	85	0		110	54	NM_012302	0	0	0	0	0	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	G	18.08	3.543056	0.65198	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69806	-0.35;-0.43;-0.4;-0.35;-0.37;-0.34;-0.38;-0.37;-0.37;-0.38;-0.37;-0.34;-0.35;-0.4	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	L	0.43923	1.385	0.80722	D	1	B;B;B;B	0.30824	0.033;0.206;0.296;0.243	B;B;B;B	0.36885	0.036;0.147;0.101;0.235	T	0.52003	-0.8633	10	0.24483	T	0.36	.	19.1389	0.93439	0.0:0.0:1.0:0.0	.	36;36;36;36	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	L	36	ENSP00000359756:V36L;ENSP00000359763:V36L;ENSP00000359765:V36L;ENSP00000359762:V36L;ENSP00000359760:V36L;ENSP00000359758:V36L;ENSP00000353006:V36L;ENSP00000359750:V36L;ENSP00000359748:V36L;ENSP00000322270:V36L;ENSP00000359752:V36L;ENSP00000378344:V36L;ENSP00000271029:V36L;ENSP00000337306:V36L	ENSP00000271029:V36L	V	+	1	0	LPHN2	82145322	1.000000	0.71417	0.995000	0.50966	0.738000	0.42128	9.695000	0.98691	2.587000	0.87381	0.557000	0.71058	GTG	.		0.378	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
PRKACB	5567	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	84649726	84649726	+	Nonsense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:84649726A>T	ENST00000370689.2	+	4	508	c.244A>T	c.(244-246)Aaa>Taa	p.K82*	PRKACB_ENST00000370680.1_Nonsense_Mutation_p.K88*|PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000370688.3_Nonsense_Mutation_p.K82*|PRKACB_ENST00000370685.3_Nonsense_Mutation_p.K129*|PRKACB_ENST00000370682.3_Nonsense_Mutation_p.K86*|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000394838.2_Nonsense_Mutation_p.K89*	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ACAGGTTGTTAAACTGAAGCA	0.269																																					p.K129X		.											.	PRKACB-1083	0			c.A385T						.						63.0	68.0	66.0					1																	84649726		2202	4285	6487	SO:0001587	stop_gained	5567	exon4			GTTGTTAAACTGA	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.244A>T	1.37:g.84649726A>T	ENSP00000359723:p.Lys82*	115	1		125	57	NM_182948	0	0	0	0	0	B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Nonsense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357506	0.82243	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000446538;ENST00000370684;ENST00000436133;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000432111;ENST00000450730;ENST00000370680;ENST00000413538;ENST00000417530;ENST00000370681	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1954	15.8279	0.78727	1.0:0.0:0.0:0.0	.	.	.	.	X	82;82;129;89;70;86;89;86;88;78;85;88;77;69;44	.	ENSP00000359713:K88X	K	+	1	0	PRKACB	84422314	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.836000	0.92105	2.133000	0.65898	0.528000	0.53228	AAA	.		0.269	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948	
LPAR3	23566	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	85279733	85279733	+	Silent	SNP	G	G	T	rs141619600	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:85279733G>T	ENST00000440886.1	-	2	896	c.858C>A	c.(856-858)tcC>tcA	p.S286S	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Silent_p.S286S			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	286					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GGTTCACGACGGAGTTGAGCA	0.582																																					p.S286S		.											.	LPAR3-502	0			c.C858A						.						114.0	106.0	109.0					1																	85279733		2203	4300	6503	SO:0001819	synonymous_variant	23566	exon3			CACGACGGAGTTG	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.858C>A	1.37:g.85279733G>T		149	1		192	42	NM_012152	0	0	0	0	0	A0AVA3	Silent	SNP	ENST00000440886.1	37	CCDS700.1																																																																																			G|1.000;A|0.000		0.582	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152	
ODF2L	57489	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	86841918	86841918	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:86841918G>C	ENST00000359242.3	-	8	1089	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	ODF2L_ENST00000317336.7_Missense_Mutation_p.Q270E|ODF2L_ENST00000394731.1_Missense_Mutation_p.Q139E|ODF2L_ENST00000294678.2_Missense_Mutation_p.Q270E|ODF2L_ENST00000524695.1_5'Flank|ODF2L_ENST00000370567.1_Missense_Mutation_p.Q270E|ODF2L_ENST00000370566.3_Missense_Mutation_p.Q270E	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	270						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTACATACCTGATCTCTAATT	0.264																																					p.Q270E		.											.	ODF2L-69	0			c.C808G						.						72.0	67.0	69.0					1																	86841918		2201	4298	6499	SO:0001583	missense	57489	exon8			ATACCTGATCTCT		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.808C>G	1.37:g.86841918G>C	ENSP00000359600:p.Gln270Glu	61	0		68	16	NM_001007022	0	0	0	0	0	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.16|18.16	3.561417|3.561417	0.65538|0.65538	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000459999|ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678;ENST00000479890	.|T;T;T;T;T;T;T;D	.|0.82984	.|1.96;1.96;1.95;1.96;1.97;1.96;1.96;-1.67	5.77|5.77	4.81|4.81	0.61882|0.61882	.|.	.|0.122386	.|0.56097	.|D	.|0.000021	T|T	0.74943|0.74943	0.3783|0.3783	L|L	0.57536|0.57536	1.79|1.79	0.27187|0.27187	N|N	0.960507|0.960507	.|P;P;P;P;P;D	.|0.57257	.|0.792;0.954;0.7;0.842;0.885;0.979	.|B;P;B;B;P;P	.|0.56434	.|0.415;0.718;0.431;0.431;0.57;0.798	T|T	0.67542|0.67542	-0.5644|-0.5644	5|10	.|0.02654	.|T	.|1	-11.6077|-11.6077	11.5041|11.5041	0.50454|0.50454	0.0:0.0:0.7203:0.2797|0.0:0.0:0.7203:0.2797	.|.	.|270;270;270;270;270;270	.|B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.|.;.;.;.;.;ODF2L_HUMAN	M|E	118|270;270;270;146;270;270;139;270;100	.|ENSP00000359597:Q270E;ENSP00000359600:Q270E;ENSP00000433092:Q146E;ENSP00000320165:Q270E;ENSP00000359598:Q270E;ENSP00000378219:Q139E;ENSP00000294678:Q270E;ENSP00000432834:Q100E	.|ENSP00000294678:Q270E	I|Q	-|-	3|1	3|0	ODF2L|ODF2L	86614506|86614506	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	2.210000|2.210000	0.42816|0.42816	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	ATC|CAG	.		0.264	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
GBP4	115361	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	89652054	89652054	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:89652054G>T	ENST00000355754.6	-	10	1766	c.1669C>A	c.(1669-1671)Ctc>Atc	p.L557I	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	557						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TGCTCTCTGAGAAGGTTTTCC	0.488																																					p.L557I		.											.	GBP4-90	0			c.C1669A						.						204.0	154.0	171.0					1																	89652054		2203	4300	6503	SO:0001583	missense	115361	exon10			CTCTGAGAAGGTT	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1669C>A	1.37:g.89652054G>T	ENSP00000359490:p.Leu557Ile	63	0		56	13	NM_052941	0	0	0	0	0	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	7.240	0.600992	0.13939	.	.	ENSG00000162654	ENST00000355754	T	0.55760	0.5	4.39	-2.73	0.05950	Guanylate-binding protein, C-terminal (3);	0.443660	0.20161	N	0.097957	T	0.10723	0.0262	N	0.25647	0.755	0.09310	N	1	B	0.14438	0.01	B	0.24974	0.057	T	0.28202	-1.0051	10	0.13470	T	0.59	.	1.8519	0.03171	0.1689:0.1234:0.2194:0.4883	.	557	Q96PP9	GBP4_HUMAN	I	557	ENSP00000359490:L557I	ENSP00000359490:L557I	L	-	1	0	GBP4	89424642	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.842000	0.27627	-0.283000	0.09115	-2.113000	0.00352	CTC	.		0.488	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941	
ZNF644	84146	ucsc.edu;bcgsc.ca	37	1	91406670	91406670	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:91406670C>A	ENST00000370440.1	-	3	458	c.241G>T	c.(241-243)Gac>Tac	p.D81Y	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.D81Y			Q9H582	ZN644_HUMAN	zinc finger protein 644	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCAGATTTGTCCTTTGACAGT	0.388																																					p.D81Y		.											.	ZNF644-155	0			c.G241T						.						142.0	137.0	139.0					1																	91406670		2203	4300	6503	SO:0001583	missense	84146	exon3			ATTTGTCCTTTGA	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.241G>T	1.37:g.91406670C>A	ENSP00000359469:p.Asp81Tyr	182	3		170	71	NM_201269	0	0	0	0	0	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456164	0.63401	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00655	5.95;5.95	5.91	5.91	0.95273	.	0.195495	0.45126	D	0.000399	T	0.00815	0.0027	L	0.27053	0.805	0.80722	D	1	P	0.48503	0.911	P	0.48901	0.594	T	0.80084	-0.1530	10	0.87932	D	0	-2.9582	20.2983	0.98569	0.0:1.0:0.0:0.0	.	81	Q9H582	ZN644_HUMAN	Y	81	ENSP00000359469:D81Y;ENSP00000337008:D81Y	ENSP00000337008:D81Y	D	-	1	0	ZNF644	91179258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.346000	0.59367	2.802000	0.96397	0.655000	0.94253	GAC	.		0.388	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
HFM1	164045	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	91866610	91866610	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:91866610A>T	ENST00000370425.3	-	2	128	c.30T>A	c.(28-30)tcT>tcA	p.S10S	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	10					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTTTCCAAAGAAAACAGGC	0.264																																					p.S10S		.											.	HFM1-112	0			c.T30A						.						37.0	40.0	39.0					1																	91866610		2201	4288	6489	SO:0001819	synonymous_variant	164045	exon2			TTCCAAAGAAAAC	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.30T>A	1.37:g.91866610A>T		146	0		132	70	NM_001017975	0	0	0	0	0	B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	9.530	1.110609	0.20714	.	.	ENSG00000162669	ENST00000370421;ENST00000427444	T	0.37235	1.21	5.57	-0.0522	0.13823	.	.	.	.	.	T	0.20414	0.0491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32322	-0.9911	6	0.72032	D	0.01	.	0.7075	0.00918	0.3976:0.2388:0.2138:0.1498	.	.	.	.	H	6	ENSP00000388900:L6H	ENSP00000359450:L6H	L	-	2	0	HFM1	91639198	0.942000	0.31987	0.884000	0.34674	0.682000	0.39822	0.045000	0.14013	0.356000	0.24157	0.454000	0.30748	CTT	.		0.264	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
TGFBR3	7049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	92182149	92182149	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:92182149C>A	ENST00000525962.1	-	10	1744	c.1683G>T	c.(1681-1683)ctG>ctT	p.L561L	TGFBR3_ENST00000212355.4_Silent_p.L561L|TGFBR3_ENST00000370399.2_Silent_p.L560L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	561	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GTCGGGTGAACAGGGAAGCAT	0.463																																					p.L561L		.											.	TGFBR3-93	0			c.G1683T						.						228.0	232.0	231.0					1																	92182149		2203	4300	6503	SO:0001819	synonymous_variant	7049	exon11			GGTGAACAGGGAA	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1683G>T	1.37:g.92182149C>A		223	0		226	67	NM_003243	0	0	0	0	0	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	CCDS30770.1																																																																																			.		0.463	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
TGFBR3	7049	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	92193214	92193214	+	Splice_Site	DEL	A	A	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:92193214delA	ENST00000525962.1	-	6	947		c.e6+1		TGFBR3_ENST00000468996.2_5'Flank|TGFBR3_ENST00000212355.4_Splice_Site|TGFBR3_ENST00000370399.2_Splice_Site			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III						blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CCACCAACTTACAATAATTTT	0.343																																					.		.											.	TGFBR3-93	0			c.885+2T>-						.						83.0	76.0	78.0					1																	92193214		2203	4300	6503	SO:0001630	splice_region_variant	7049	exon9			CAACTTACAATAA	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.885+1T>-	1.37:g.92193214delA		98	0		92	20	NM_001195684	0	0	0	0	0	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Splice_Site	DEL	ENST00000525962.1	37	CCDS30770.1																																																																																			.		0.343	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	Intron
BTBD8	284697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	92568096	92568096	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:92568096G>T	ENST00000342818.3	+	3	650	c.414G>T	c.(412-414)atG>atT	p.M138I	BTBD8_ENST00000370382.3_Missense_Mutation_p.M138I|BTBD8_ENST00000540648.1_Missense_Mutation_p.M138I	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	138						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AAAAGATAATGGAGATTGGGA	0.279																																					p.M138I		.											.	BTBD8-91	0			c.G414T						.						63.0	63.0	63.0					1																	92568096		2203	4300	6503	SO:0001583	missense	284697	exon3			GATAATGGAGATT	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.414G>T	1.37:g.92568096G>T	ENSP00000343686:p.Met138Ile	125	0		121	57	NM_183242	0	0	0	0	0	Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	1.004	-0.689886	0.03328	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.62639	2.01;0.01;2.01	5.66	-4.57	0.03421	BTB/POZ-like (1);	2.308850	0.01934	N	0.041458	T	0.12475	0.0303	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03829	-1.1000	10	0.19590	T	0.45	-5.8722	0.6773	0.00869	0.3308:0.1047:0.2463:0.3181	.	138	Q5XKL5	BTBD8_HUMAN	I	138	ENSP00000359408:M138I;ENSP00000343686:M138I;ENSP00000443397:M138I	ENSP00000343686:M138I	M	+	3	0	BTBD8	92340684	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.359000	0.07632	-0.797000	0.04450	-0.467000	0.05162	ATG	.		0.279	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242	
SNX7	51375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	99164270	99164270	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99164270G>A	ENST00000306121.3	+	6	856	c.847G>A	c.(847-849)Gat>Aat	p.D283N	SNX7_ENST00000529992.1_Missense_Mutation_p.D228N|SNX7_ENST00000370189.5_Missense_Mutation_p.D219N	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	219					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGAATATTTTGATGAAATGAA	0.343																																					p.D283N		.											.	SNX7-229	0			c.G847A						.						38.0	40.0	39.0					1																	99164270		2202	4298	6500	SO:0001583	missense	51375	exon6			TATTTTGATGAAA	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.847G>A	1.37:g.99164270G>A	ENSP00000304429:p.Asp283Asn	40	0		36	8	NM_015976	0	0	0	0	0	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286632	0.23478	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.28666	1.99;1.6;1.6	5.28	5.28	0.74379	.	0.283492	0.44097	D	0.000490	T	0.05502	0.0145	N	0.08118	0	0.30607	N	0.759945	B;B;B	0.16166	0.016;0.004;0.005	B;B;B	0.15052	0.011;0.005;0.012	T	0.28004	-1.0057	10	0.18710	T	0.47	-24.7814	8.5047	0.33179	0.0844:0.0:0.7597:0.1559	.	228;283;219	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	N	219;228;283	ENSP00000359208:D219N;ENSP00000434731:D228N;ENSP00000304429:D283N	ENSP00000304429:D283N	D	+	1	0	SNX7	98936858	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.292000	0.51772	2.639000	0.89480	0.555000	0.69702	GAT	.		0.343	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2		
PLPPR4	9890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	99764707	99764707	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99764707A>T	ENST00000370185.3	+	4	1152	c.655A>T	c.(655-657)Aat>Tat	p.N219Y	LPPR4_ENST00000370184.1_Missense_Mutation_p.N61Y|LPPR4_ENST00000457765.1_Missense_Mutation_p.N219Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		219					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TACCTCTCTGAATGTATCTTG	0.388																																					p.N219Y		.											.	LPPR4-93	0			c.A655T						.						123.0	119.0	120.0					1																	99764707		2203	4300	6503	SO:0001583	missense	0	exon4			TCTCTGAATGTAT																												ENST00000370185.3:c.655A>T	1.37:g.99764707A>T	ENSP00000359204:p.Asn219Tyr	146	0		153	30	NM_001166252	0	0	0	0	0	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589726	0.86851	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.41400	1.0;1.0;1.0	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.099109	0.64402	D	0.000001	T	0.56688	0.2002	M	0.69823	2.125	0.51767	D	0.999933	P;D	0.76494	0.861;0.999	P;D	0.79108	0.777;0.992	T	0.61987	-0.6949	10	0.66056	D	0.02	-26.3768	15.7585	0.78058	1.0:0.0:0.0:0.0	.	219;219	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Y	219;219;219;61	ENSP00000359204:N219Y;ENSP00000394913:N219Y;ENSP00000359203:N61Y	ENSP00000263178:N219Y	N	+	1	0	RP4-788L13.1	99537295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.313000	0.65798	2.191000	0.70037	0.528000	0.53228	AAT	.		0.388	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
PLPPR4	9890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	99771539	99771539	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99771539C>T	ENST00000370185.3	+	7	1762	c.1265C>T	c.(1264-1266)aCc>aTc	p.T422I	LPPR4_ENST00000370184.1_Missense_Mutation_p.T264I|LPPR4_ENST00000457765.1_Missense_Mutation_p.T364I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		422					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CGAGCCAATACCCCATCTGTA	0.488																																					p.T422I		.											.	LPPR4-93	0			c.C1265T						.						59.0	61.0	60.0					1																	99771539		2203	4300	6503	SO:0001583	missense	0	exon7			CCAATACCCCATC																												ENST00000370185.3:c.1265C>T	1.37:g.99771539C>T	ENSP00000359204:p.Thr422Ile	150	0		140	43	NM_014839	0	0	0	0	0	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905917	0.52333	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.28454	2.17;2.08;1.61	5.71	5.71	0.89125	.	0.318283	0.38111	N	0.001802	T	0.45216	0.1331	L	0.57536	1.79	0.80722	D	1	D;P	0.76494	0.999;0.923	D;P	0.68943	0.961;0.558	T	0.12630	-1.0540	9	.	.	.	-34.9919	19.8478	0.96722	0.0:1.0:0.0:0.0	.	364;422	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	I	422;364;422;264	ENSP00000359204:T422I;ENSP00000394913:T364I;ENSP00000359203:T264I	.	T	+	2	0	RP4-788L13.1	99544127	0.996000	0.38824	0.996000	0.52242	0.210000	0.24377	5.528000	0.67129	2.685000	0.91497	0.650000	0.86243	ACC	.		0.488	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
PLPPR4	9890	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	99771739	99771739	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99771739G>T	ENST00000370185.3	+	7	1962	c.1465G>T	c.(1465-1467)Ggg>Tgg	p.G489W	LPPR4_ENST00000370184.1_Missense_Mutation_p.G331W|LPPR4_ENST00000457765.1_Missense_Mutation_p.G431W	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		489					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATCGAGGGTAGGGGTGAATGG	0.537																																					p.G489W		.											.	LPPR4-93	0			c.G1465T						.						126.0	127.0	127.0					1																	99771739		2203	4300	6503	SO:0001583	missense	0	exon7			AGGGTAGGGGTGA																												ENST00000370185.3:c.1465G>T	1.37:g.99771739G>T	ENSP00000359204:p.Gly489Trp	344	1		318	78	NM_014839	0	0	0	0	0	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314053	0.60414	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.29917	2.1;2.02;1.55	5.7	5.7	0.88788	.	0.249396	0.42964	D	0.000636	T	0.45478	0.1344	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.13282	-1.0515	9	.	.	.	-21.2274	19.8311	0.96636	0.0:0.0:1.0:0.0	.	431;489	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	W	489;431;489;331	ENSP00000359204:G489W;ENSP00000394913:G431W;ENSP00000359203:G331W	.	G	+	1	0	RP4-788L13.1	99544327	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	7.536000	0.82023	2.681000	0.91329	0.650000	0.86243	GGG	.		0.537	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
PLPPR4	9890	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	99772033	99772033	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99772033G>T	ENST00000370185.3	+	7	2256	c.1759G>T	c.(1759-1761)Ggt>Tgt	p.G587C	LPPR4_ENST00000370184.1_Missense_Mutation_p.G429C|LPPR4_ENST00000457765.1_Missense_Mutation_p.G529C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		587					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAAGCAGCAGGGTGTCCTCCA	0.542																																					p.G587C		.											.	LPPR4-93	0			c.G1759T						.						64.0	64.0	64.0					1																	99772033		2203	4300	6503	SO:0001583	missense	0	exon7			CAGCAGGGTGTCC																												ENST00000370185.3:c.1759G>T	1.37:g.99772033G>T	ENSP00000359204:p.Gly587Cys	313	1		366	102	NM_014839	0	0	0	0	0	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.937800|3.937800	0.73557|0.73557	.|.	.|.	ENSG00000117600|ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184|ENST00000263178	T;T;T|.	0.39997|.	1.58;1.39;1.05|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.109197|.	0.64402|.	D|.	0.000008|.	T|T	0.67627|0.67627	0.2913|0.2913	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	T|T	0.62263|0.62263	-0.6891|-0.6891	9|5	.|.	.|.	.|.	-29.3789|-29.3789	20.2822|20.2822	0.98520|0.98520	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	529;587|.	E7EPS1;Q7Z2D5|.	.;LPPR4_HUMAN|.	C|S	587;529;429|552	ENSP00000359204:G587C;ENSP00000394913:G529C;ENSP00000359203:G429C|.	.|.	G|R	+|+	1|3	0|2	RP4-788L13.1|RP4-788L13.1	99544621|99544621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	9.368000|9.368000	0.97152|0.97152	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	GGT|AGG	.		0.542	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
PLPPR4	9890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	99772258	99772258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:99772258G>T	ENST00000370185.3	+	7	2481	c.1984G>T	c.(1984-1986)Gag>Tag	p.E662*	LPPR4_ENST00000370184.1_Nonsense_Mutation_p.E504*|LPPR4_ENST00000457765.1_Nonsense_Mutation_p.E604*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		662					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCAAACTTACGAGCTCAACGA	0.507																																					p.E662X		.											.	LPPR4-93	0			c.G1984T						.						70.0	67.0	68.0					1																	99772258		2203	4300	6503	SO:0001587	stop_gained	0	exon7			ACTTACGAGCTCA																												ENST00000370185.3:c.1984G>T	1.37:g.99772258G>T	ENSP00000359204:p.Glu662*	255	0		243	120	NM_014839	0	0	0	0	0	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Nonsense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	43	9.895031	0.99290	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	.	.	.	5.9	5.9	0.94986	.	0.128665	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.8326	20.2822	0.98520	0.0:0.0:1.0:0.0	.	.	.	.	X	662;604;504	.	.	E	+	1	0	RP4-788L13.1	99544846	1.000000	0.71417	0.969000	0.41365	0.823000	0.46562	9.114000	0.94329	2.806000	0.96561	0.655000	0.94253	GAG	.		0.507	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
SASS6	163786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	100588833	100588833	+	Missense_Mutation	SNP	G	G	A	rs541086017		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:100588833G>A	ENST00000287482.5	-	3	279	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Intron	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	47	PISA.				centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TCAGTCAGACGAATAACTAAG	0.284													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17501	0.0		0.0	False		,,,				2504	0.0				p.R47C		.											.	SASS6-70	0			c.C139T						.						55.0	60.0	58.0					1																	100588833		2202	4297	6499	SO:0001583	missense	163786	exon3			TCAGACGAATAAC	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.139C>T	1.37:g.100588833G>A	ENSP00000287482:p.Arg47Cys	91	0		83	38	NM_194292	0	0	0	0	0	D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036373	0.75617	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.52983	0.64	5.51	5.51	0.81932	.	0.325987	0.30347	N	0.009840	T	0.57125	0.2032	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.58222	-0.7674	10	0.54805	T	0.06	-9.6846	14.9748	0.71264	0.0:0.0:0.8568:0.1432	.	47	Q6UVJ0	SAS6_HUMAN	C	47;20	ENSP00000287482:R47C	ENSP00000287482:R47C	R	-	1	0	SASS6	100361421	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.462000	0.53042	2.584000	0.87258	0.585000	0.79938	CGT	.		0.284	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292	
TRMT13	54482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	100606445	100606445	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:100606445T>G	ENST00000370141.2	+	7	545	c.539T>G	c.(538-540)cTt>cGt	p.L180R		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	180					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TTAAAGTTACTTGGTCCAAGA	0.333																																					p.L180R		.											.	.	0			c.T539G						.						110.0	109.0	109.0					1																	100606445		2203	4300	6503	SO:0001583	missense	54482	exon7			AGTTACTTGGTCC	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.539T>G	1.37:g.100606445T>G	ENSP00000359160:p.Leu180Arg	95	0		83	32	NM_019083	0	0	0	0	0	Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	CCDS765.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407916	0.83340	.	.	ENSG00000122435	ENST00000370141	T	0.58358	0.34	5.89	5.89	0.94794	Methyltransferase TRM13 (1);	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.81495	-0.0907	10	0.87932	D	0	-10.8118	16.2891	0.82738	0.0:0.0:0.0:1.0	.	166;180	B4DQS9;Q9NUP7	.;TRM13_HUMAN	R	180	ENSP00000359160:L180R	ENSP00000359160:L180R	L	+	2	0	CCDC76	100379033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.132000	0.77251	2.248000	0.74166	0.460000	0.39030	CTT	.		0.333	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083	
CDC14A	8556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	100964629	100964629	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:100964629G>T	ENST00000336454.3	+	15	1921	c.1566G>T	c.(1564-1566)caG>caT	p.Q522H	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.Q522H|CDC14A_ENST00000542213.1_Missense_Mutation_p.Q464H|CDC14A_ENST00000544534.1_Missense_Mutation_p.Q522H	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	522					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GCAGCTCCCAGCCAACTACCA	0.532																																					p.Q522H		.											.	CDC14A-290	0			c.G1566T						.						72.0	73.0	73.0					1																	100964629		2203	4300	6503	SO:0001583	missense	8556	exon15			CTCCCAGCCAACT	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1566G>T	1.37:g.100964629G>T	ENSP00000336739:p.Gln522His	137	0		172	44	NM_003672	0	0	0	0	0	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.140924	0.37825	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.10960	2.82;2.83;3.03;2.82	5.66	2.75	0.32379	.	0.309252	0.34178	N	0.004183	T	0.07818	0.0196	L	0.32530	0.975	0.25084	N	0.9909	D;D;D;D	0.71674	0.998;0.991;0.991;0.998	D;P;P;D	0.80764	0.956;0.77;0.77;0.994	T	0.20739	-1.0266	10	0.30854	T	0.27	-13.7109	7.3193	0.26517	0.1989:0.1205:0.6806:0.0	.	464;522;522;522	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	H	464;522;522;522	ENSP00000442640:Q464H;ENSP00000354916:Q522H;ENSP00000336739:Q522H;ENSP00000442543:Q522H	ENSP00000336739:Q522H	Q	+	3	2	CDC14A	100737217	0.974000	0.33945	0.164000	0.22755	0.267000	0.26476	1.539000	0.36104	0.413000	0.25759	0.655000	0.94253	CAG	.		0.532	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312	
COL11A1	1301	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	103345394	103345394	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:103345394G>T	ENST00000370096.3	-	66	5431	c.5119C>A	c.(5119-5121)Cgg>Agg	p.R1707R	COL11A1_ENST00000512756.1_Silent_p.R1591R|COL11A1_ENST00000358392.2_Silent_p.R1719R|COL11A1_ENST00000353414.4_Silent_p.R1668R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1707	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAATTTTGCCGAGCAGAGGCA	0.408																																					p.R1719R		.											.	COL11A1-586	0			c.C5155A						.						116.0	103.0	107.0					1																	103345394		2203	4300	6503	SO:0001819	synonymous_variant	1301	exon66			TTTGCCGAGCAGA	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5119C>A	1.37:g.103345394G>T		142	1		137	76	NM_080629	0	0	0	0	0	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																			.		0.408	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
COL11A1	1301	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	103363705	103363705	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:103363705G>T	ENST00000370096.3	-	57	4590	c.4278C>A	c.(4276-4278)ggC>ggA	p.G1426G	COL11A1_ENST00000512756.1_Silent_p.G1310G|COL11A1_ENST00000358392.2_Silent_p.G1438G|COL11A1_ENST00000353414.4_Silent_p.G1387G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1426	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCCATCTTGGCCTGCAGCTC	0.284																																					p.G1438G		.											.	COL11A1-586	0			c.C4314A						.						20.0	21.0	21.0					1																	103363705		2193	4297	6490	SO:0001819	synonymous_variant	1301	exon57			ATCTTGGCCTGCA	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4278C>A	1.37:g.103363705G>T		126	1		156	75	NM_080629	0	0	0	0	0	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																			.		0.284	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
NTNG1	22854	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	108023431	108023431	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:108023431T>A	ENST00000370068.1	+	8	2435	c.1589T>A	c.(1588-1590)cTg>cAg	p.L530Q	NTNG1_ENST00000370061.3_Missense_Mutation_p.L496Q|NTNG1_ENST00000542803.1_Missense_Mutation_p.L530Q|NTNG1_ENST00000370067.1_Missense_Mutation_p.L451Q|NTNG1_ENST00000370065.1_Missense_Mutation_p.L485Q|NTNG1_ENST00000370072.3_Missense_Mutation_p.L485Q|NTNG1_ENST00000370073.2_Missense_Mutation_p.L530Q|NTNG1_ENST00000370071.2_Missense_Mutation_p.L471Q|NTNG1_ENST00000370066.1_Missense_Mutation_p.L471Q|NTNG1_ENST00000370070.2_Missense_Mutation_p.L451Q|NTNG1_ENST00000370074.4_Missense_Mutation_p.L429Q			Q9Y2I2	NTNG1_HUMAN	netrin G1	530					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTGACCACGCTGCTGGGAACC	0.687																																					p.L530Q		.											.	NTNG1-140	0			c.T1589A						.						7.0	7.0	7.0					1																	108023431		2146	4167	6313	SO:0001583	missense	22854	exon8			CCACGCTGCTGGG	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1589T>A	1.37:g.108023431T>A	ENSP00000359085:p.Leu530Gln	38	0		89	34	NM_001113226	0	0	0	0	0	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423456	0.25639	.	.	ENSG00000162631	ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.81078	0.29;-1.22;0.25;-0.47;-0.48;-1.37;-1.45;0.29;-1.4;-1.22;-0.4	4.8	4.8	0.61643	.	0.270973	0.19052	N	0.124011	T	0.65544	0.2701	L	0.42245	1.32	0.40703	D	0.982504	P;P;P;P	0.40794	0.61;0.61;0.729;0.729	B;B;B;B	0.41332	0.282;0.193;0.354;0.354	T	0.72398	-0.4306	10	0.72032	D	0.01	.	9.2032	0.37272	0.0:0.1343:0.0:0.8657	.	496;530;471;429	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-1	.;NTNG1_HUMAN;.;.	Q	530;471;530;496;485;451;429;333;277;429;530;451;471;485	ENSP00000359090:L530Q;ENSP00000359088:L471Q;ENSP00000440561:L530Q;ENSP00000359078:L496Q;ENSP00000359089:L485Q;ENSP00000359087:L451Q;ENSP00000359091:L429Q;ENSP00000359085:L530Q;ENSP00000359084:L451Q;ENSP00000359083:L471Q;ENSP00000359082:L485Q	ENSP00000359078:L496Q	L	+	2	0	NTNG1	107824954	1.000000	0.71417	0.994000	0.49952	0.330000	0.28571	3.816000	0.55658	1.901000	0.55032	0.379000	0.24179	CTG	.		0.687	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	
VAV3	10451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	108138963	108138963	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:108138963C>A	ENST00000370056.4	-	25	2495	c.2221G>T	c.(2221-2223)Gaa>Taa	p.E741*	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Splice_Site_p.E741*|VAV3_ENST00000415432.2_Splice_Site_p.E181*|VAV3_ENST00000544443.1_Splice_Site_p.E145*	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	741	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCCACAAGTTCCTTTGGAAAA	0.373																																					p.E741X		.											.	VAV3-1339	0			c.G2221T						.						105.0	101.0	102.0					1																	108138963		2203	4300	6503	SO:0001630	splice_region_variant	10451	exon25			CAAGTTCCTTTGG	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.2221-1G>T	1.37:g.108138963C>A		51	0		59	12	NM_006113	0	0	0	0	0	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Nonsense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	39	7.784755	0.98489	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	.	.	.	5.44	5.44	0.79542	.	0.046402	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2679	0.93997	0.0:1.0:0.0:0.0	.	.	.	.	X	741;741;145;181	.	ENSP00000359073:E741X	E	-	1	0	VAV3	107940486	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.270000	0.78493	2.563000	0.86464	0.585000	0.79938	GAA	.		0.373	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	Nonsense_Mutation
VAV3	10451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	108417589	108417589	+	Silent	SNP	C	C	A	rs563011711		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:108417589C>A	ENST00000370056.4	-	2	529	c.255G>T	c.(253-255)acG>acT	p.T85T	VAV3_ENST00000371846.4_Silent_p.T20T|VAV3_ENST00000527011.1_Silent_p.T85T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	85	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCATTCCAAACGTCTCACAAC	0.348																																					p.T85T		.											.	VAV3-1339	0			c.G255T						.						88.0	83.0	85.0					1																	108417589		2203	4300	6503	SO:0001819	synonymous_variant	10451	exon2			TCCAAACGTCTCA	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.255G>T	1.37:g.108417589C>A		192	0		172	31	NM_006113	0	0	0	0	0	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	8.264	0.811843	0.16537	.	.	ENSG00000134215	ENST00000490388	.	.	.	6.08	-12.2	0.00006	.	.	.	.	.	T	0.42291	0.1196	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74275	-0.3718	4	.	.	.	.	15.6881	0.77426	0.0:0.6292:0.1461:0.2247	.	.	.	.	L	80	.	.	R	-	2	0	VAV3	108219112	0.001000	0.12720	0.042000	0.18584	0.958000	0.62258	-1.164000	0.03135	-3.843000	0.00100	-0.797000	0.03246	CGT	.		0.348	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
FAM102B	284611	bcgsc.ca	37	1	109170821	109170821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:109170821G>T	ENST00000370035.3	+	7	929	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	FAM102B_ENST00000405454.1_Nonsense_Mutation_p.E197*	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	197										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TGTTCCAGACGAACTTGGTGC	0.383																																					p.E197X		.											.	FAM102B-135	0			c.G589T						.						106.0	96.0	99.0					1																	109170821		2203	4300	6503	SO:0001587	stop_gained	284611	exon7			CCAGACGAACTTG	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.589G>T	1.37:g.109170821G>T	ENSP00000359052:p.Glu197*	557	4		531	210	NM_001010883	0	0	0	0	0	A1L1A1|B0QZ46|B0QZ47|Q68DH7	Nonsense_Mutation	SNP	ENST00000370035.3	37	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	G	40	8.262343	0.98732	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	.	.	.	5.41	5.41	0.78517	.	0.046316	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-24.141	19.1869	0.93647	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000359052:E197X	E	+	1	0	FAM102B	108972344	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	7.425000	0.80255	2.524000	0.85096	0.655000	0.94253	GAA	.		0.383	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883	
PRPF38B	55119	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	109242505	109242505	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:109242505A>G	ENST00000370025.4	+	6	1773	c.1504A>G	c.(1504-1506)Aga>Gga	p.R502G	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R391G	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	502					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		AAAGCGTAGTAGAAGCAAAGA	0.418																																					p.R502G		.											.	PRPF38B-90	0			c.A1504G						.						130.0	130.0	130.0					1																	109242505		2203	4300	6503	SO:0001583	missense	55119	exon6			CGTAGTAGAAGCA	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1504A>G	1.37:g.109242505A>G	ENSP00000359042:p.Arg502Gly	188	1		156	43	NM_018061	0	0	0	0	0	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	CCDS788.1	.	.	.	.	.	.	.	.	.	.	A	2.133	-0.398604	0.04865	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.28895	1.59;2.57	5.41	2.96	0.34315	.	0.434403	0.26586	N	0.023555	T	0.07728	0.0194	N	0.24115	0.695	0.38947	D	0.958266	B	0.02656	0.0	B	0.04013	0.001	T	0.14811	-1.0459	10	0.19590	T	0.45	.	11.1489	0.48447	0.9082:0.0:0.0918:0.0	.	502	Q5VTL8	PR38B_HUMAN	G	502;391	ENSP00000359042:R502G;ENSP00000359038:R391G	ENSP00000359038:R391G	R	+	1	2	PRPF38B	109044028	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.380000	0.34351	0.329000	0.23460	-0.252000	0.11476	AGA	.		0.418	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061	
AMIGO1	57463	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	110050171	110050171	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:110050171delC	ENST00000369864.4	-	2	1713	c.1364delG	c.(1363-1365)ggcfs	p.G455fs	AMIGO1_ENST00000369862.1_Frame_Shift_Del_p.G455fs					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTTGAGCTTGCCGTTTTGACC	0.582																																					p.G455fs		.											.	AMIGO1-136	0			c.1364delG						.						97.0	85.0	89.0					1																	110050171		2203	4300	6503	SO:0001589	frameshift_variant	57463	exon2			AGCTTGCCGTTTT		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1364delG	1.37:g.110050171delC	ENSP00000358880:p.Gly455fs	156	0		171	38	NM_020703	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000369864.4	37	CCDS30795.1																																																																																			.		0.582	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703	
GPR61	83873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	110085990	110085990	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:110085990C>T	ENST00000527748.1	+	2	1029	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGTGGCCTGCCGCCTCTACTT	0.612																																					p.R116C		.											.	GPR61-91	0			c.C346T						.						85.0	79.0	81.0					1																	110085990		2203	4300	6503	SO:0001583	missense	83873	exon2			GCCTGCCGCCTCT	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.346C>T	1.37:g.110085990C>T	ENSP00000432456:p.Arg116Cys	99	0		97	49	NM_031936	0	0	0	0	0	A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440223	0.63067	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.73363	-0.74	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.131800	0.52532	D	0.000069	D	0.83004	0.5160	M	0.67397	2.05	0.54753	D	0.999985	D	0.89917	1.0	D	0.70016	0.967	D	0.84576	0.0658	10	0.87932	D	0	-27.2738	18.9139	0.92496	0.0:1.0:0.0:0.0	.	116	Q9BZJ8	GPR61_HUMAN	C	116;244	ENSP00000432456:R116C	ENSP00000286603:R244C	R	+	1	0	GPR61	109887513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.090000	0.50191	2.548000	0.85928	0.655000	0.94253	CGC	.		0.612	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1		
GNAT2	2780	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	110148630	110148630	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:110148630T>A	ENST00000351050.3	-	6	868	c.682A>T	c.(682-684)Agt>Tgt	p.S228C		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	228					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCATAGGCACTGAGGGCTGCA	0.507																																					p.S228C		.											.	GNAT2-227	0			c.A682T						.						130.0	117.0	122.0					1																	110148630		2203	4300	6503	SO:0001583	missense	2780	exon6			AGGCACTGAGGGC	BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.682A>T	1.37:g.110148630T>A	ENSP00000251337:p.Ser228Cys	264	1		269	57	NM_005272	0	0	0	0	0		Missense_Mutation	SNP	ENST00000351050.3	37	CCDS803.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822201	0.90873	.	.	ENSG00000134183	ENST00000351050	D	0.92545	-3.06	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97907	1.0306	10	0.87932	D	0	.	14.9829	0.71324	0.0:0.0:0.0:1.0	.	228	P19087	GNAT2_HUMAN	C	228	ENSP00000251337:S228C	ENSP00000251337:S228C	S	-	1	0	GNAT2	109950153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.757000	0.85209	2.261000	0.74972	0.533000	0.62120	AGT	.		0.507	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272	
KCNC4	3749	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	110766353	110766353	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:110766353C>A	ENST00000369787.3	+	2	1473	c.1446C>A	c.(1444-1446)gcC>gcA	p.A482A	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.A482A|KCNC4_ENST00000413138.3_Silent_p.A482A	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	482					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACTCCCTGGCCATGGCCAAGC	0.612																																					p.A482A		.											.	KCNC4-154	0			c.C1446A						.						105.0	100.0	101.0					1																	110766353		2203	4300	6503	SO:0001819	synonymous_variant	3749	exon2			CCTGGCCATGGCC	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1446C>A	1.37:g.110766353C>A		159	0		128	25	NM_001039574	0	0	0	0	0	Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	CCDS821.1																																																																																			.		0.612	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574	
FAM19A3	284467	ucsc.edu;bcgsc.ca	37	1	113266683	113266683	+	Missense_Mutation	SNP	C	C	A	rs538277150		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:113266683C>A	ENST00000361886.3	+	4	373	c.314C>A	c.(313-315)cCg>cAg	p.P105Q	FAM19A3_ENST00000369630.3_Silent_p.R128R	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	105						extracellular region (GO:0005576)				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGCCTGCCGGGGGAGGAG	0.622																																					p.P105Q		.											.	FAM19A3-90	0			c.C314A						.						63.0	56.0	59.0					1																	113266683		2203	4300	6503	SO:0001583	missense	284467	exon4			GCCTGCCGGGGGA	AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.314C>A	1.37:g.113266683C>A	ENSP00000355042:p.Pro105Gln	238	3		235	112	NM_182759	0	0	0	0	0	B7ZLU0|Q2M1P9|Q7Z5A6	Missense_Mutation	SNP	ENST00000361886.3	37	CCDS856.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682146	0.68042	.	.	ENSG00000184599	ENST00000361886	.	.	.	5.58	2.55	0.30701	.	.	.	.	.	T	0.12860	0.0312	.	.	.	0.22911	N	0.998573	B	0.16603	0.018	B	0.16722	0.016	T	0.29458	-1.0011	7	0.59425	D	0.04	-1.0702	5.3761	0.16166	0.3924:0.4567:0.0:0.1509	.	105	Q7Z5A8	F19A3_HUMAN	Q	105	.	ENSP00000355042:P105Q	P	+	2	0	FAM19A3	113068206	0.172000	0.23043	0.351000	0.25721	0.991000	0.79684	0.720000	0.25896	0.253000	0.21552	0.655000	0.94253	CCG	.		0.622	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033255.1	NM_182759	
VANGL1	81839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	116206308	116206308	+	Silent	SNP	G	G	T	rs186509771		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:116206308G>T	ENST00000355485.2	+	4	502	c.231G>T	c.(229-231)acG>acT	p.T77T	VANGL1_ENST00000369510.4_Silent_p.T75T|VANGL1_ENST00000310260.3_Silent_p.T77T|VANGL1_ENST00000369509.1_Silent_p.T77T	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	77					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGACCACCACGGCCATCACAG	0.542																																					p.T77T		.											.	VANGL1-226	0			c.G231T						.						97.0	90.0	92.0					1																	116206308		2203	4300	6503	SO:0001819	synonymous_variant	81839	exon4			CACCACGGCCATC	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.231G>T	1.37:g.116206308G>T		133	0		124	33	NM_001172412	0	0	0	0	0	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Silent	SNP	ENST00000355485.2	37	CCDS883.1																																																																																			G|0.999;A|0.000		0.542	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1		
ZNF697	90874	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	120165428	120165428	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:120165428C>A	ENST00000421812.2	-	3	1657	c.1538G>T	c.(1537-1539)cGc>cTc	p.R513L		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CGTGTGGATGCGGCGGTGGCG	0.627																																					p.R513L		.											.	ZNF697-23	0			c.G1538T						.						14.0	20.0	18.0					1																	120165428		2172	4286	6458	SO:0001583	missense	90874	exon3			TGGATGCGGCGGT	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1538G>T	1.37:g.120165428C>A	ENSP00000396857:p.Arg513Leu	123	1		174	81	NM_001080470	0	0	0	0	0	Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264064	0.59431	.	.	ENSG00000143067	ENST00000421812	T	0.25085	1.82	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37053	N	0.002277	T	0.33847	0.0877	M	0.62154	1.92	0.47183	D	0.999347	D	0.55385	0.971	P	0.55222	0.771	T	0.08126	-1.0737	10	0.87932	D	0	-36.4602	16.591	0.84765	0.0:1.0:0.0:0.0	.	513	Q5TEC3	ZN697_HUMAN	L	513	ENSP00000396857:R513L	ENSP00000396857:R513L	R	-	2	0	ZNF697	119966951	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	2.575000	0.46025	2.713000	0.92767	0.655000	0.94253	CGC	.		0.627	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286	
NOTCH2	4853	hgsc.bcm.edu	37	1	120611964	120611964	+	Missense_Mutation	SNP	G	G	C	rs11810554	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:120611964G>C	ENST00000256646.2	-	1	276	c.57C>G	c.(55-57)tgC>tgG	p.C19W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	19					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C19W(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGGGCCGCGCAGCACAGCC	0.766			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.C19W		.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2-1441	1	Substitution - Missense(1)	central_nervous_system(1)	c.C57G						.						6.0	8.0	8.0					1																	120611964		1705	3721	5426	SO:0001583	missense	4853	exon1	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GGCCGCGCAGCAC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.57C>G	1.37:g.120611964G>C	ENSP00000256646:p.Cys19Trp	0	0		11	7	NM_024408	0	0	0	0	0	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	697|697	0.3191391941391941|0.3191391941391941	81|81	0.16463414634146342|0.16463414634146342	112|112	0.30939226519337015|0.30939226519337015	224|224	0.3916083916083916|0.3916083916083916	280|280	0.36939313984168864|0.36939313984168864	G|G	6.292|6.292	0.421956|0.421956	0.11928|0.11928	.|.	.|.	ENSG00000134250|ENSG00000134250	ENST00000538680|ENST00000256646	.|T	.|0.57436	.|0.4	3.09|3.09	2.04|2.04	0.26737|0.26737	.|.	.|.	.|.	.|.	.|.	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.14661|0.14661	0.345|0.345	0.26751|0.26751	N|N	0.970205|0.970205	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.14337|0.14337	-1.0476|-1.0476	6|9	0.87932|0.37606	D|T	0|0.19	.|.	6.7594|6.7594	0.23532|0.23532	0.0:0.0:0.7206:0.2794|0.0:0.0:0.7206:0.2794	rs11810554|rs11810554	.|19;19	.|Q6IQ50;Q04721	.|.;NOTC2_HUMAN	G|W	36|19	.|ENSP00000256646:C19W	ENSP00000439516:A36G|ENSP00000256646:C19W	A|C	-|-	2|3	0|2	NOTCH2|NOTCH2	120413487|120413487	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.313000|0.313000	0.28021|0.28021	0.766000|0.766000	0.26560|0.26560	1.760000|1.760000	0.52011|0.52011	0.184000|0.184000	0.17185|0.17185	GCG|TGC	G|0.680;C|0.320		0.766	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
NOTCH2	4853	hgsc.bcm.edu	37	1	120612006	120612006	+	Silent	SNP	G	G	A	rs4021006	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:120612006G>A	ENST00000256646.2	-	1	234	c.15C>T	c.(13-15)cgC>cgT	p.R5R		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	5					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGAGCGGGGCGCAGGGCGG	0.761			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				g|||	1973	0.39397	0.2632	0.4049	5008	,	,		21911	0.4315		0.4423	False		,,,				2504	0.4744				p.R5R		.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2-1441	0			c.C15T						.						6.0	8.0	8.0					1																	120612006		1838	3882	5720	SO:0001819	synonymous_variant	4853	exon1	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AGCGGGGCGCAGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.15C>T	1.37:g.120612006G>A		1	0		11	11	NM_024408	0	0	0	0	0	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	9.758	1.169358	0.21621	.	.	ENSG00000134250	ENST00000538680	.	.	.	2.9	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0819	0.14661	0.1818:0.0:0.8182:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH2	120413529	0.988000	0.35896	0.959000	0.39883	0.588000	0.36517	1.074000	0.30703	0.543000	0.28864	0.184000	0.17185	.	G|0.500;A|0.500		0.761	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
PDE4DIP	9659	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	144852481	144852481	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:144852481G>T	ENST00000369354.3	-	44	7207	c.7018C>A	c.(7018-7020)Ctg>Atg	p.L2340M	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L2425M|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L2476M|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L2234M			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2340					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTACATGGCAGAGCCCTTAGG	0.512			T	PDGFRB	MPD																																p.L2340M		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.C7018A						.						47.0	47.0	47.0					1																	144852481		2203	4292	6495	SO:0001583	missense	9659	exon44			ATGGCAGAGCCCT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.7018C>A	1.37:g.144852481G>T	ENSP00000358360:p.Leu2340Met	44	0		102	38	NM_014644	0	0	0	0	0	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.403773	0.25291	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000530740;ENST00000369359	T;T;T;T	0.01887	4.58;4.67;4.68;4.67	3.94	3.94	0.45596	.	.	.	.	.	T	0.04048	0.0113	L	0.51422	1.61	0.80722	D	1	D;P	0.76494	0.999;0.94	D;P	0.87578	0.998;0.467	T	0.56038	-0.8045	9	0.31617	T	0.26	.	11.7055	0.51595	0.0:0.0:1.0:0.0	.	2234;2340	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	M	2234;2340;2425;2476	ENSP00000327209:L2234M;ENSP00000358360:L2340M;ENSP00000435654:L2425M;ENSP00000358366:L2476M	ENSP00000327209:L2234M	L	-	1	2	PDE4DIP	143563838	0.197000	0.23362	0.694000	0.30210	0.630000	0.37929	2.037000	0.41174	2.216000	0.71823	0.549000	0.68633	CTG	.		0.512	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
PDE4DIP	9659	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	144854656	144854656	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:144854656C>A	ENST00000369354.3	-	42	7003	c.6814G>T	c.(6814-6816)Gga>Tga	p.G2272*	PDE4DIP_ENST00000530740.1_Splice_Site_p.G2357*|PDE4DIP_ENST00000369359.4_Splice_Site_p.G2408*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Splice_Site_p.G2272*|PDE4DIP_ENST00000313382.9_Splice_Site_p.G2166*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2272					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTGATTCTCCCTGGATAAGA	0.468			T	PDGFRB	MPD																																p.G2272X		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.G6814T						.						211.0	187.0	195.0					1																	144854656		2203	4300	6503	SO:0001630	splice_region_variant	9659	exon42			ATTCTCCCTGGAT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6814-1G>T	1.37:g.144854656C>A		155	0		225	29	NM_014644	0	0	0	0	0	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	49	15.374426	0.99831	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.	.	.	4.0	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.8186	0.40869	0.0:0.8953:0.0:0.1047	.	.	.	.	X	2166;2272;2272;2357;2408	.	ENSP00000327209:G2166X	G	-	1	0	PDE4DIP	143566013	1.000000	0.71417	0.921000	0.36526	0.346000	0.29079	5.652000	0.67959	0.847000	0.35167	-0.432000	0.05891	GGA	.		0.468	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Nonsense_Mutation
PDE4DIP	9659	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	144865885	144865885	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:144865885G>C	ENST00000369354.3	-	35	5884	c.5695C>G	c.(5695-5697)Cag>Gag	p.Q1899E	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q1984E|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2035E|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q1899E|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1793E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1899					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGCAGAGCTGAGGTATGGAC	0.463			T	PDGFRB	MPD																																p.Q1899E		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.C5695G						.						274.0	285.0	281.0					1																	144865885		2203	4296	6499	SO:0001583	missense	9659	exon35			AGAGCTGAGGTAT	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5695C>G	1.37:g.144865885G>C	ENSP00000358360:p.Gln1899Glu	196	0		221	15	NM_014644	0	0	0	0	0	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684639	0.68157	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01918	4.56;4.6;4.59;4.64;4.62	5.72	5.72	0.89469	.	.	.	.	.	T	0.06645	0.0170	M	0.68952	2.095	0.80722	D	1	D;D	0.58620	0.983;0.969	P;D	0.64877	0.826;0.93	T	0.18935	-1.0321	9	0.48119	T	0.1	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	1793;1899	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	E	1793;1899;1899;1984;2035	ENSP00000327209:Q1793E;ENSP00000358360:Q1899E;ENSP00000358363:Q1899E;ENSP00000435654:Q1984E;ENSP00000358366:Q2035E	ENSP00000327209:Q1793E	Q	-	1	0	PDE4DIP	143577242	1.000000	0.71417	0.984000	0.44739	0.137000	0.21094	5.266000	0.65525	2.695000	0.91970	0.650000	0.86243	CAG	.		0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
NBPF10	100132406	broad.mit.edu	37	1	145323656	145323656	+	Missense_Mutation	SNP	A	A	T	rs75252120	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:145323656A>T	ENST00000342960.5	+	27	3528	c.3493A>T	c.(3493-3495)Att>Ttt	p.I1165F	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	752						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.I1165F(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TATTGCAGGAATTAAAAAGGA	0.473																																					p.I1165F		.											.	.	3	Substitution - Missense(3)	endometrium(2)|kidney(1)	c.A3493T						.																																			SO:0001583	missense	100132406	exon27			GCAGGAATTAAAA	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3493A>T	1.37:g.145323656A>T	ENSP00000345684:p.Ile1165Phe	79	1		98	16	NM_001039703	0	0	0	0	0	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	7.524	0.657305	0.14580	.	.	ENSG00000163386	ENST00000342960	T	0.03441	3.93	.	.	.	.	.	.	.	.	T	0.02342	0.0072	M	0.67953	2.075	0.09310	N	1	.	.	.	.	.	.	T	0.44065	-0.9352	5	0.28530	T	0.3	.	.	.	.	.	.	.	.	F	1165	ENSP00000345684:I1165F	ENSP00000345684:I1165F	I	+	1	0	NBPF10	144035013	0.353000	0.24904	0.005000	0.12908	0.123000	0.20343	1.122000	0.31295	0.386000	0.24997	0.128000	0.15822	ATT	A|0.625;T|0.375		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
ITGA10	8515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org|broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	145533058	145533059	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G|	G|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:145533058_145533059GG>AT	ENST00000369304.3	+	11	1328_1329	c.1153_1154GG>AT	c.(1153-1155)GGg>ATg	p.G385M	ITGA10_ENST00000538811.1_Missense_Mutation_p.G254M|ITGA10_ENST00000539363.1_Missense_Mutation_p.G242M	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	385					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCACAGGATGGGATTCTTTTT	0.535																																					p.G385R|p.G385V		.											.	ITGA10-231	0			c.G1153A|c.G1154T						.																																			SO:0001583	missense	8515	exon11			CAGGATGGGATTC|AGGATGGGATTCT	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	Exception_encountered	1.37:g.145533058_145533059delinsAT	ENSP00000358310:p.Gly385Met	44|46	0|1		74|76	25	NM_003637	0	0	0	0	0	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1																																																																																			.		0.535	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
GJA8	2703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	147380254	147380254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:147380254C>T	ENST00000369235.1	+	1	172	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	GJA8_ENST00000240986.4_Nonsense_Mutation_p.Q58*			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	58					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CAACACCCAGCAGCCTGGCTG	0.597																																					p.Q58X	Melanoma(76;1255 1795 8195 52096)	.											.	GJA8-138	0			c.C172T						.						137.0	109.0	118.0					1																	147380254		2203	4300	6503	SO:0001587	stop_gained	2703	exon2			ACCCAGCAGCCTG	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.172C>T	1.37:g.147380254C>T	ENSP00000358238:p.Gln58*	118	0		270	75	NM_005267	0	0	0	0	0	A7L5M5|Q5VVN9|Q9NP25	Nonsense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	37	6.059725	0.97246	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.262	0.90039	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000240986:Q58X	Q	+	1	0	GJA8	145846878	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.755000	0.85180	2.297000	0.77311	0.491000	0.48974	CAG	.		0.597	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
PSMD4	5710	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	151236481	151236481	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:151236481T>C	ENST00000368884.3	+	3	339	c.259T>C	c.(259-261)Tgc>Cgc	p.C87R	PSMD4_ENST00000469786.2_3'UTR|PSMD4_ENST00000368881.4_Missense_Mutation_p.C87R	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	87	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GATCACCTTCTGCACGGGCAT	0.572																																					p.C87R		.											.	PSMD4-90	0			c.T259C						.						106.0	76.0	86.0					1																	151236481		2203	4300	6503	SO:0001583	missense	5710	exon3			ACCTTCTGCACGG	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.259T>C	1.37:g.151236481T>C	ENSP00000357879:p.Cys87Arg	201	1		339	93	NM_002810	0	0	0	0	0	D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	CCDS991.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192856	0.78902	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T;T	0.13196	2.61;2.61;2.61	5.36	5.36	0.76844	Ssl1-like (1);von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.10551	0.0258	L	0.53249	1.67	0.80722	D	1	P;P	0.38335	0.627;0.627	P;P	0.44422	0.449;0.449	T	0.09662	-1.0664	10	0.24483	T	0.36	-14.8227	13.743	0.62860	0.0:0.0:0.0:1.0	.	87;87	Q5VWC4;P55036	.;PSMD4_HUMAN	R	87;87;72	ENSP00000357879:C87R;ENSP00000357876:C87R;ENSP00000414499:C72R	ENSP00000357876:C87R	C	+	1	0	PSMD4	149503105	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.812000	0.69194	2.257000	0.74773	0.460000	0.39030	TGC	.		0.572	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810	
POGZ	23126	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	151377850	151377850	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:151377850G>C	ENST00000271715.2	-	19	3975	c.3661C>G	c.(3661-3663)Cgc>Ggc	p.R1221G	POGZ_ENST00000392723.1_Missense_Mutation_p.R1168G|POGZ_ENST00000368863.2_Missense_Mutation_p.R1126G|POGZ_ENST00000409503.1_Missense_Mutation_p.R1212G|POGZ_ENST00000491586.1_Missense_Mutation_p.R1177G|POGZ_ENST00000540984.1_Missense_Mutation_p.R583G|POGZ_ENST00000361398.3_Missense_Mutation_p.R1168G|POGZ_ENST00000531094.1_Missense_Mutation_p.R1159G	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1221	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTTGCTGCGCTGGCAAGCT	0.527																																					p.R1221G		.											.	POGZ-93	0			c.C3661G						.						113.0	98.0	103.0					1																	151377850		2203	4300	6503	SO:0001583	missense	23126	exon19			TGCTGCGCTGGCA	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3661C>G	1.37:g.151377850G>C	ENSP00000271715:p.Arg1221Gly	178	1		176	29	NM_015100	0	0	0	0	0	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	4.505	0.093621	0.08632	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.98	5.98	0.97165	.	0.337402	0.29355	N	0.012386	T	0.11153	0.0272	N	0.08118	0	0.26044	N	0.981567	B;B;B;B;B;B	0.15141	0.005;0.012;0.011;0.011;0.004;0.012	B;B;B;B;B;B	0.23419	0.029;0.046;0.025;0.025;0.017;0.046	T	0.08638	-1.0712	10	0.22706	T	0.39	-3.0374	12.6902	0.56970	0.0:0.0:0.7453:0.2547	.	1159;1212;1126;1177;1168;1221	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	G	1168;1221;1168;1126;1212;1159;583;1177	ENSP00000376484:R1168G;ENSP00000271715:R1221G;ENSP00000354467:R1168G;ENSP00000357856:R1126G;ENSP00000386836:R1212G;ENSP00000431259:R1159G;ENSP00000443547:R583G;ENSP00000418408:R1177G	ENSP00000271715:R1221G	R	-	1	0	POGZ	149644474	0.436000	0.25586	1.000000	0.80357	0.953000	0.61014	2.154000	0.42291	2.838000	0.97847	0.591000	0.81541	CGC	.		0.527	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171	
POGZ	23126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	151402135	151402135	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:151402135C>G	ENST00000271715.2	-	5	826	c.512G>C	c.(511-513)gGg>gCg	p.G171A	POGZ_ENST00000392723.1_Missense_Mutation_p.G118A|POGZ_ENST00000368863.2_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.G171A|POGZ_ENST00000491586.1_Missense_Mutation_p.G118A|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000361398.3_Missense_Mutation_p.G118A|POGZ_ENST00000531094.1_Missense_Mutation_p.G118A	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	171					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACAATCCCAACCTGATT	0.398																																					p.G171A		.											.	POGZ-93	0			c.G512C						.						172.0	142.0	152.0					1																	151402135		2203	4300	6503	SO:0001583	missense	23126	exon5			ACAATCCCAACCT	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.512G>C	1.37:g.151402135C>G	ENSP00000271715:p.Gly171Ala	71	0		152	31	NM_015100	0	0	0	0	0	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440919	0.83993	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000001	D	0.87184	0.6114	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.83275	0.981;0.987;0.996;0.992;0.992;0.987	D	0.88441	0.3042	10	0.42905	T	0.14	-16.0792	16.9732	0.86306	0.0:1.0:0.0:0.0	.	118;171;171;118;118;171	E9PM80;B7ZBY5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	A	118;171;118;171;118;118;171	ENSP00000376484:G118A;ENSP00000271715:G171A;ENSP00000354467:G118A;ENSP00000386836:G171A;ENSP00000431259:G118A;ENSP00000418408:G118A	ENSP00000271715:G171A	G	-	2	0	POGZ	149668759	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.189000	0.65098	2.587000	0.87381	0.655000	0.94253	GGG	.		0.398	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171	
THEM4	117145	hgsc.bcm.edu	37	1	151881885	151881885	+	Missense_Mutation	SNP	A	A	C	rs3748805	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:151881885A>C	ENST00000368814.3	-	1	399	c.50T>G	c.(49-51)cTg>cGg	p.L17R	THEM4_ENST00000489410.1_Missense_Mutation_p.L17R	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	17			L -> R (in dbSNP:rs3748805). {ECO:0000269|PubMed:11598301, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17013611, ECO:0000269|Ref.4}.		epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACTGGCGGCAGGCACAGAGC	0.741													C|||	4622	0.922923	0.8986	0.9092	5008	,	,		8223	0.9494		0.9155	False		,,,				2504	0.9458				p.L17R		.											.	THEM4-522	0			c.T50G						.						1.0	1.0	1.0					1																	151881885		1068	2473	3541	SO:0001583	missense	117145	exon1			GGCGGCAGGCACA	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.50T>G	1.37:g.151881885A>C	ENSP00000357804:p.Leu17Arg	0	0		13	8	NM_053055	0	0	0	0	0	B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	CCDS1006.1	2023	0.9262820512820513	453	0.9207317073170732	320	0.8839779005524862	545	0.9527972027972028	705	0.9300791556728232	C	0.562	-0.845033	0.02671	.	.	ENSG00000159445	ENST00000368814;ENST00000489410	T;T	0.25579	2.45;1.79	1.92	-0.278	0.12894	.	16.336300	0.02935	N	0.139768	T	0.02455	0.0075	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	9	0.10111	T	0.7	0.3431	0.4569	0.00510	0.2457:0.3181:0.2427:0.1934	rs3748805;rs17855960	17	Q5T1C6	THEM4_HUMAN	R	17	ENSP00000357804:L17R;ENSP00000433304:L17R	ENSP00000357804:L17R	L	-	2	0	THEM4	150148509	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.350000	0.07721	-0.432000	0.07297	-0.358000	0.07595	CTG	T|0.073;G|0.921		0.741	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055	
TCHH	7062	hgsc.bcm.edu	37	1	152084432	152084432	+	Missense_Mutation	SNP	G	G	C	rs373487652		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152084432G>C	ENST00000368804.1	-	2	1260	c.1261C>G	c.(1261-1263)Cgc>Ggc	p.R421G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	421	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGCTCGCGCCTCAgctgc	0.706																																					p.R421G		.											.	TCHH-72	0			c.C1261G						.						10.0	12.0	12.0					1																	152084432		1887	4089	5976	SO:0001583	missense	7062	exon3			GCTCGCGCCTCAG	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1261C>G	1.37:g.152084432G>C	ENSP00000357794:p.Arg421Gly	2	0		56	7	NM_007113	0	0	0	0	0	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	7.455	0.643436	0.14451	.	.	ENSG00000159450	ENST00000368804	T	0.06528	3.29	3.43	2.48	0.30137	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.31680	0.335	B	0.30943	0.122	T	0.47058	-0.9146	9	0.54805	T	0.06	.	9.5738	0.39445	0.0:0.0:0.7886:0.2114	.	421	Q07283	TRHY_HUMAN	G	421	ENSP00000357794:R421G	ENSP00000357794:R421G	R	-	1	0	TCHH	150351056	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	0.267000	0.18552	0.644000	0.30656	0.496000	0.49642	CGC	.		0.706	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
RPTN	126638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152129433	152129433	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152129433G>A	ENST00000316073.3	-	3	206	c.142C>T	c.(142-144)Cca>Tca	p.P48S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	48	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like. {ECO:0000250}.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GGGTCATTTGGTCTCTGTTAG	0.428																																					p.P48S		.											.	RPTN-68	0			c.C142T						.						100.0	86.0	90.0					1																	152129433		1568	3582	5150	SO:0001583	missense	126638	exon3			CATTTGGTCTCTG	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.142C>T	1.37:g.152129433G>A	ENSP00000317895:p.Pro48Ser	67	0		107	27	NM_001122965	0	0	0	0	0	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032151	0.75504	.	.	ENSG00000215853	ENST00000316073	T	0.16457	2.34	5.03	5.03	0.67393	EF-hand-like domain (1);	.	.	.	.	T	0.32224	0.0822	M	0.78637	2.42	0.31687	N	0.642393	D	0.89917	1.0	D	0.72075	0.976	T	0.15780	-1.0425	9	0.87932	D	0	-3.1421	13.846	0.63468	0.0:0.0:1.0:0.0	.	48	Q6XPR3	RPTN_HUMAN	S	48	ENSP00000317895:P48S	ENSP00000317895:P48S	P	-	1	0	RPTN	150396057	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.662000	0.46766	2.331000	0.79229	0.542000	0.68232	CCA	.		0.428	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
HRNR	388697	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	152188311	152188311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152188311G>A	ENST00000368801.2	-	3	5869	c.5794C>T	c.(5794-5796)Cag>Tag	p.Q1932*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1932					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAAAGACTGACGGGAGCCA	0.582																																					p.Q1932X		.											.	HRNR-93	0			c.C5794T						.						165.0	250.0	222.0					1																	152188311		2100	4264	6364	SO:0001587	stop_gained	388697	exon3			AAGACTGACGGGA	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5794C>T	1.37:g.152188311G>A	ENSP00000357791:p.Gln1932*	1106	2		1978	183	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	42	9.624818	0.99223	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.24	0.00395	0.14056	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	7.9967	0.30271	0.0:0.5024:0.3268:0.1708	.	.	.	.	X	1932	.	ENSP00000357791:Q1932X	Q	-	1	0	HRNR	150454935	0.195000	0.23338	0.001000	0.08648	0.007000	0.05969	1.096000	0.30976	0.027000	0.15297	-0.318000	0.08688	CAG	.		0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
FLG	2312	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	152276700	152276700	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152276700C>A	ENST00000368799.1	-	3	10697	c.10662G>T	c.(10660-10662)agG>agT	p.R3554S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3554	Ser-rich.				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)			ACCCAGACCACCTCTCAGAGT	0.592									Ichthyosis																												p.R3554S		.											.	FLG-106	0			c.G10662T						.						153.0	176.0	169.0					1																	152276700		2203	4297	6500	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGACCACCTCTCA	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.10662G>T	1.37:g.152276700C>A	ENSP00000357789:p.Arg3554Ser	225	0		403	51	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.615	1.132287	0.21041	.	.	ENSG00000143631	ENST00000368799	T	0.02446	4.29	2.05	-0.735	0.11137	.	.	.	.	.	T	0.02571	0.0078	M	0.66506	2.035	0.09310	N	1	D	0.65815	0.995	D	0.79108	0.992	T	0.30937	-0.9961	9	0.08381	T	0.77	.	4.697	0.12809	0.0:0.448:0.0:0.552	.	3554	P20930	FILA_HUMAN	S	3554	ENSP00000357789:R3554S	ENSP00000357789:R3554S	R	-	3	2	FLG	150543324	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.000000	0.01466	-0.184000	0.10567	0.398000	0.26397	AGG	.		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	152280069	152280069	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152280069G>T	ENST00000368799.1	-	3	7328	c.7293C>A	c.(7291-7293)acC>acA	p.T2431T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2431	Ser-rich.				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)			TGCTGGTCCCGGTCCGTCCAT	0.592									Ichthyosis																												p.T2431T		.											.	FLG-106	0			c.C7293A						.						263.0	243.0	250.0					1																	152280069		2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GGTCCCGGTCCGT	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.7293C>A	1.37:g.152280069G>T		331	1		604	308	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	bcgsc.ca	37	1	152281563	152281563	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152281563C>A	ENST00000368799.1	-	3	5834	c.5799G>T	c.(5797-5799)agG>agT	p.R1933S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1933	Ser-rich.				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)			ACCCAGACCACCTCTCAGAGT	0.572									Ichthyosis																												p.R1933S		.											.	FLG-106	0			c.G5799T						.						215.0	213.0	214.0					1																	152281563		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	AGACCACCTCTCA	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.5799G>T	1.37:g.152281563C>A	ENSP00000357789:p.Arg1933Ser	335	2		525	64	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|C	10.82|10.82	1.459286|1.459286	0.26248|0.26248	.|.	.|.	ENSG00000143631|ENSG00000143631	ENST00000271820|ENST00000368799	.|T	.|0.02446	.|4.29	3.01|3.01	-6.03|-6.03	0.02185|0.02185	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00906	.|0.0030	M|M	0.74881|0.74881	2.28|2.28	0.09310|0.09310	N|N	1|1	.|B	.|0.26935	.|0.164	.|B	.|0.24701	.|0.055	.|T	.|0.46470	.|-0.9189	.|9	.|0.09338	.|T	.|0.73	.|.	6.4599|6.4599	0.21950|0.21950	0.0:0.5386:0.1676:0.2938|0.0:0.5386:0.1676:0.2938	.|.	.|1933	.|P20930	.|FILA_HUMAN	.|S	-1|1933	.|ENSP00000357789:R1933S	.|ENSP00000357789:R1933S	.|R	-|-	.|3	.|2	FLG|FLG	150548187|150548187	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.959000|-0.959000	0.03853|0.03853	-1.299000|-1.299000	0.02344|0.02344	-0.225000|-0.225000	0.12378|0.12378	.|AGG	.		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	152283067	152283067	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152283067C>A	ENST00000368799.1	-	3	4330	c.4295G>T	c.(4294-4296)gGg>gTg	p.G1432V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1432	Ser-rich.				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)			AGAGCTTTCCCCTGACTGGCC	0.567									Ichthyosis																												p.G1432V		.											.	FLG-106	0			c.G4295T						.						196.0	196.0	196.0					1																	152283067		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTTTCCCCTGACT	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.4295G>T	1.37:g.152283067C>A	ENSP00000357789:p.Gly1432Val	236	1		442	116	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.384	0.838097	0.16891	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	2.36	1.41	0.22369	.	.	.	.	.	T	0.01254	0.0041	M	0.71581	2.175	0.09310	N	1	D	0.69078	0.997	P	0.48738	0.588	T	0.49143	-0.8970	9	0.28530	T	0.3	.	5.2376	0.15454	0.0:0.8211:0.0:0.1789	.	1432	P20930	FILA_HUMAN	V	1432	ENSP00000357789:G1432V	ENSP00000357789:G1432V	G	-	2	0	FLG	150549691	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.237000	0.08990	0.326000	0.23384	-0.300000	0.09419	GGG	.		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG2	388698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	152323875	152323875	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152323875G>T	ENST00000388718.5	-	3	6459	c.6387C>A	c.(6385-6387)gcC>gcA	p.A2129A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2129					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGAGATCTGGCTTGGCCAT	0.527																																					p.A2129A		.											.	FLG2-151	0			c.C6387A						.						448.0	415.0	426.0					1																	152323875		2203	4300	6503	SO:0001819	synonymous_variant	388698	exon3			AGATCTGGCTTGG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6387C>A	1.37:g.152323875G>T		341	1		516	218	NM_001014342	0	0	0	0	0	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																			.		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152326364	152326364	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152326364A>T	ENST00000388718.5	-	3	3970	c.3898T>A	c.(3898-3900)Tac>Aac	p.Y1300N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1300					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTTTGGGTAGTGAGATCCA	0.468																																					p.Y1300N		.											.	FLG2-151	0			c.T3898A						.						438.0	387.0	404.0					1																	152326364		2203	4300	6503	SO:0001583	missense	388698	exon3			TTGGGTAGTGAGA	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3898T>A	1.37:g.152326364A>T	ENSP00000373370:p.Tyr1300Asn	401	1		715	182	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	5.592	0.294084	0.10567	.	.	ENSG00000143520	ENST00000388718	T	0.21734	1.99	3.08	-0.423	0.12325	.	.	.	.	.	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.24963	0.115	B	0.24974	0.057	T	0.45498	-0.9257	9	0.25751	T	0.34	0.0241	2.9922	0.05987	0.3022:0.2376:0.4602:0.0	.	1300	Q5D862	FILA2_HUMAN	N	1300	ENSP00000373370:Y1300N	ENSP00000373370:Y1300N	Y	-	1	0	FLG2	150592988	0.000000	0.05858	0.001000	0.08648	0.077000	0.17291	0.385000	0.20685	0.150000	0.19136	0.165000	0.16767	TAC	.		0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	ucsc.edu;bcgsc.ca	37	1	152326656	152326656	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152326656G>T	ENST00000388718.5	-	3	3678	c.3606C>A	c.(3604-3606)tcC>tcA	p.S1202S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1202	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAATCCAGTGGACTGACCTG	0.483																																					p.S1202S		.											.	FLG2-151	0			c.C3606A						.						116.0	114.0	115.0					1																	152326656		2203	4300	6503	SO:0001819	synonymous_variant	388698	exon3			TCCAGTGGACTGA	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3606C>A	1.37:g.152326656G>T		194	2		275	125	NM_001014342	0	0	0	0	0	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																			.		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	bcgsc.ca	37	1	152327047	152327047	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152327047delC	ENST00000388718.5	-	3	3287	c.3215delG	c.(3214-3216)cgtfs	p.R1072fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1072	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGACTGACGTGATCTAGA	0.473																																					p.R1072fs		.											.	FLG2-151	0			c.3215delG						.						319.0	317.0	317.0					1																	152327047		2203	4300	6503	SO:0001589	frameshift_variant	388698	exon3			GACTGACGTGATC	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3215delG	1.37:g.152327047delC	ENSP00000373370:p.Arg1072fs	322	1		533	197	NM_001014342	0	0	0	0	0	Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	CCDS30861.1																																																																																			.		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	hgsc.bcm.edu	37	1	152327047	152327048	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152327047_152327048delCG	ENST00000388718.5	-	3	3286_3287	c.3214_3215delCG	c.(3214-3216)cgtfs	p.R1072fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1072	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGACTGACGTGATCTAGAC	0.47																																					p.1072_1072del		.											.	FLG2-151	0			c.3214_3215del						.																																			SO:0001589	frameshift_variant	388698	exon3			GACTGACGTGATC	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3214_3215delCG	1.37:g.152327047_152327048delCG	ENSP00000373370:p.Arg1072fs	322	0		533	0	NM_001014342	0	0	0	0	0	Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	CCDS30861.1																																																																																			.		0.470	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	bcgsc.ca	37	1	152327048	152327048	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152327048G>T	ENST00000388718.5	-	3	3286	c.3214C>A	c.(3214-3216)Cgt>Agt	p.R1072S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1072	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTGACGTGATCTAGAC	0.468																																					p.R1072S		.											.	FLG2-151	0			c.C3214A						.						317.0	315.0	316.0					1																	152327048		2203	4300	6503	SO:0001583	missense	388698	exon3			ACTGACGTGATCT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3214C>A	1.37:g.152327048G>T	ENSP00000373370:p.Arg1072Ser	318	2		529	210	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.977	-0.698434	0.03279	.	.	ENSG00000143520	ENST00000388718	T	0.15718	2.4	4.09	-0.188	0.13264	.	.	.	.	.	T	0.01558	0.0050	N	0.05383	-0.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.48031	-0.9070	9	0.09084	T	0.74	.	5.0557	0.14531	0.0:0.4679:0.332:0.2001	.	1072	Q5D862	FILA2_HUMAN	S	1072	ENSP00000373370:R1072S	ENSP00000373370:R1072S	R	-	1	0	FLG2	150593672	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-4.055000	0.00304	-0.376000	0.07943	-1.211000	0.01629	CGT	.		0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	broad.mit.edu;bcgsc.ca	37	1	152328724	152328724	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152328724C>T	ENST00000388718.5	-	3	1610	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	513	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGATTGTCCTGAGACAGA	0.522																																					p.G513E		.											.	FLG2-151	0			c.G1538A						.						235.0	233.0	234.0					1																	152328724		2203	4300	6503	SO:0001583	missense	388698	exon3			GATTGTCCTGAGA	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1538G>A	1.37:g.152328724C>T	ENSP00000373370:p.Gly513Glu	273	1		423	41	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467031	0.43839	.	.	ENSG00000143520	ENST00000388718	T	0.05081	3.5	4.38	4.38	0.52667	.	.	.	.	.	T	0.05502	0.0145	L	0.47716	1.5	0.09310	N	1	D	0.62365	0.991	P	0.52598	0.703	T	0.38222	-0.9671	9	0.21014	T	0.42	-5.3476	14.5137	0.67804	0.0:1.0:0.0:0.0	.	513	Q5D862	FILA2_HUMAN	E	513	ENSP00000373370:G513E	ENSP00000373370:G513E	G	-	2	0	FLG2	150595348	0.001000	0.12720	0.011000	0.14972	0.025000	0.11179	0.911000	0.28584	2.283000	0.76528	0.650000	0.86243	GGA	.		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	152328752	152328752	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152328752C>A	ENST00000388718.5	-	3	1582	c.1510G>T	c.(1510-1512)Ggc>Tgc	p.G504C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	504	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCAAAGCCAGAGGACTGA	0.522																																					p.G504C		.											.	FLG2-151	0			c.G1510T						.						229.0	229.0	229.0					1																	152328752		2203	4300	6503	SO:0001583	missense	388698	exon3			CAAAGCCAGAGGA	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1510G>T	1.37:g.152328752C>A	ENSP00000373370:p.Gly504Cys	259	0		409	32	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287427	0.23478	.	.	ENSG00000143520	ENST00000388718	T	0.24723	1.84	4.56	1.35	0.21983	.	.	.	.	.	T	0.17789	0.0427	N	0.26042	0.785	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.06954	-1.0798	9	0.44086	T	0.13	-0.2424	7.6591	0.28392	0.0:0.6713:0.0:0.3287	.	504	Q5D862	FILA2_HUMAN	C	504	ENSP00000373370:G504C	ENSP00000373370:G504C	G	-	1	0	FLG2	150595376	0.000000	0.05858	0.046000	0.18839	0.043000	0.13939	-2.136000	0.01305	0.506000	0.28125	0.655000	0.94253	GGC	.		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152329711	152329711	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:152329711G>A	ENST00000388718.5	-	3	623	c.551C>T	c.(550-552)tCc>tTc	p.S184F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	184	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCACAGCTGGACCTGTGGTA	0.468																																					p.S184F		.											.	FLG2-151	0			c.C551T						.						185.0	190.0	188.0					1																	152329711		2203	4300	6503	SO:0001583	missense	388698	exon3			CAGCTGGACCTGT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.551C>T	1.37:g.152329711G>A	ENSP00000373370:p.Ser184Phe	146	0		190	43	NM_001014342	0	0	0	0	0	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	7.698	0.692565	0.15039	.	.	ENSG00000143520	ENST00000388718	T	0.01005	5.45	5.44	4.52	0.55395	.	.	.	.	.	T	0.00637	0.0021	M	0.61703	1.905	0.09310	N	0.999991	P	0.41673	0.759	B	0.38327	0.271	T	0.48139	-0.9061	9	0.72032	D	0.01	-6.9752	10.5496	0.45081	0.0909:0.0:0.9091:0.0	.	184	Q5D862	FILA2_HUMAN	F	184	ENSP00000373370:S184F	ENSP00000373370:S184F	S	-	2	0	FLG2	150596335	0.883000	0.30277	0.256000	0.24389	0.004000	0.04260	2.929000	0.48916	1.271000	0.44313	0.557000	0.71058	TCC	.		0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
SPRR2D	6703	broad.mit.edu;mdanderson.org	37	1	153012806	153012806	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:153012806T>A	ENST00000368757.1	-	2	297	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	SPRR2D_ENST00000360379.3_Missense_Mutation_p.Q6L|SPRR2D_ENST00000368758.3_Missense_Mutation_p.Q6L|SPRR2D_ENST00000368756.1_Missense_Mutation_p.Q6L			P22532	SPR2D_HUMAN	small proline-rich protein 2D	6					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGCACTGCTGCTGTTGATA	0.557																																					p.Q6L		.											.	SPRR2D-68	0			c.A17T						.						27.0	26.0	27.0					1																	153012806		2177	4260	6437	SO:0001583	missense	6703	exon2			CACTGCTGCTGTT	AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.17A>T	1.37:g.153012806T>A	ENSP00000357746:p.Gln6Leu	34	1		73	33	NM_006945	0	0	0	0	0	A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Missense_Mutation	SNP	ENST00000368757.1	37	CCDS30864.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.791917	0.31685	.	.	ENSG00000163216	ENST00000360379;ENST00000368758;ENST00000368757;ENST00000368756	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	3.82	3.82	0.43975	.	.	.	.	.	T	0.27629	0.0679	.	.	.	0.27930	N	0.937915	P	0.50819	0.939	P	0.47206	0.541	T	0.07443	-1.0772	8	0.87932	D	0	.	9.2596	0.37603	0.0:0.0:0.0:1.0	.	6	P22532	SPR2D_HUMAN	L	6	ENSP00000353542:Q6L;ENSP00000357747:Q6L;ENSP00000357746:Q6L;ENSP00000357745:Q6L	ENSP00000353542:Q6L	Q	-	2	0	SPRR2D	151279430	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	2.264000	0.43302	1.503000	0.48686	0.374000	0.22700	CAG	.		0.557	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1		
LOR	4014	hgsc.bcm.edu	37	1	153233804	153233804	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:153233804G>T	ENST00000368742.3	+	2	436	c.379G>T	c.(379-381)Ggc>Tgc	p.G127C		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	127					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)			gggcggctccggctgcttctc	0.781																																					p.G127C		.											.	LOR-90	0			c.G379T						.						1.0	1.0	1.0					1																	153233804		326	891	1217	SO:0001583	missense	4014	exon2			GGCTCCGGCTGCT	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.379G>T	1.37:g.153233804G>T	ENSP00000357731:p.Gly127Cys	0	0		8	5	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Missense_Mutation	SNP	ENST00000368742.3	37	CCDS30870.1	.	.	.	.	.	.	.	.	.	.	G	1.626	-0.520270	0.04171	.	.	ENSG00000203782	ENST00000368742;ENST00000392652	T	0.50277	0.75	3.96	-0.484	0.12071	.	3.826540	0.01010	N	0.003812	T	0.18299	0.0439	L	0.36672	1.1	0.09310	N	1	P	0.37141	0.584	B	0.36808	0.233	T	0.16600	-1.0397	10	0.87932	D	0	-4.385	3.6488	0.08195	0.3086:0.0:0.5163:0.1751	.	127	P23490	LORI_HUMAN	C	127	ENSP00000357731:G127C	ENSP00000357731:G127C	G	+	1	0	LOR	151500428	0.596000	0.26866	0.001000	0.08648	0.049000	0.14656	1.513000	0.35823	-0.008000	0.14320	0.462000	0.41574	GGC	.		0.781	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427	
PGLYRP4	57115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	153303417	153303417	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:153303417T>C	ENST00000359650.5	-	9	1012	c.948A>G	c.(946-948)atA>atG	p.I316M	RNU6-160P_ENST00000384591.1_RNA|PGLYRP4_ENST00000368739.3_Missense_Mutation_p.I312M	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	316					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATTGGGTGGTATACCTGCAA	0.527																																					p.I316M		.											.	PGLYRP4-94	0			c.A948G						.						101.0	89.0	93.0					1																	153303417		2203	4300	6503	SO:0001583	missense	57115	exon9			GGGTGGTATACCT	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.948A>G	1.37:g.153303417T>C	ENSP00000352672:p.Ile316Met	120	0		193	20	NM_020393	0	0	0	0	0	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	T	6.705	0.498678	0.12762	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.13307	2.6;2.6	3.37	-0.611	0.11601	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	2.375720	0.02011	N	0.047015	T	0.02888	0.0086	N	0.20483	0.58	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.26517	0.042;0.07	T	0.42189	-0.9466	10	0.49607	T	0.09	-11.215	3.1844	0.06596	0.2527:0.0:0.5049:0.2425	.	312;316	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	M	312;316	ENSP00000357728:I312M;ENSP00000352672:I316M	ENSP00000352672:I316M	I	-	3	3	PGLYRP4	151570041	0.000000	0.05858	0.005000	0.12908	0.807000	0.45602	-1.258000	0.02863	-0.199000	0.10317	-0.648000	0.03929	ATA	.		0.527	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	
FAM189B	10712	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	155217919	155217919	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:155217919C>A	ENST00000361361.2	-	11	2264	c.1755G>T	c.(1753-1755)cgG>cgT	p.R585R	FAM189B_ENST00000368368.3_Silent_p.R567R|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000350210.2_Silent_p.R489R	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	585						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGACCAGGCCCCGACCTGGCC	0.627																																					p.R585R		.											.	FAM189B-154	0			c.G1755T						.						29.0	33.0	32.0					1																	155217919		2203	4300	6503	SO:0001819	synonymous_variant	10712	exon11			CAGGCCCCGACCT	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1755G>T	1.37:g.155217919C>A		158	1		273	141	NM_006589	0	0	0	0	0	B1AVS5|Q8IXL3|Q9BR66	Silent	SNP	ENST00000361361.2	37	CCDS1103.1																																																																																			.		0.627	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589	
MEX3A	92312	broad.mit.edu	37	1	156046986	156046986	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:156046986A>T	ENST00000532414.2	-	2	941	c.942T>A	c.(940-942)gaT>gaA	p.D314E	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	314						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGTAGCGGCTATCGATTGCTG	0.652																																					p.D314E		.											.	MEX3A-158	0			c.T942A						.						66.0	79.0	74.0					1																	156046986		2023	4187	6210	SO:0001583	missense	92312	exon2			GCGGCTATCGATT	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.942T>A	1.37:g.156046986A>T	ENSP00000432845:p.Asp314Glu	47	1		144	15	NM_001093725	0	0	0	0	0		Missense_Mutation	SNP	ENST00000532414.2	37	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	A	5.632	0.301361	0.10678	.	.	ENSG00000254726	ENST00000532414	T	0.44482	0.92	5.59	-3.91	0.04168	.	0.219797	0.36374	N	0.002636	T	0.05273	0.0140	N	0.12746	0.255	0.29508	N	0.854398	B	0.09022	0.002	B	0.11329	0.006	T	0.30909	-0.9962	10	0.16420	T	0.52	.	3.9566	0.09393	0.5867:0.1525:0.1622:0.0985	.	314	A1L020	MEX3A_HUMAN	E	314	ENSP00000432845:D314E	ENSP00000432845:D314E	D	-	3	2	MEX3A	154313610	0.991000	0.36638	0.825000	0.32803	0.190000	0.23558	0.349000	0.20055	-0.527000	0.06374	0.260000	0.18958	GAT	.		0.652	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725	
TMEM79	84283	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	156255405	156255405	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:156255405G>T	ENST00000405535.2	+	2	559	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	SMG5_ENST00000368267.5_5'Flank|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000295694.5_Missense_Mutation_p.V130L|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	130					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CCGTGCCTTCGTGCCTATTGA	0.607																																					p.V130L		.											.	TMEM79-90	0			c.G388T						.						65.0	66.0	65.0					1																	156255405		2203	4300	6503	SO:0001583	missense	84283	exon2			GCCTTCGTGCCTA	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.388G>T	1.37:g.156255405G>T	ENSP00000384748:p.Val130Leu	163	0		299	35	NM_032323	0	0	0	0	0	B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192097	0.78902	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.44482	0.92;0.92	5.82	5.82	0.92795	.	0.285526	0.34777	N	0.003689	T	0.29945	0.0749	L	0.36672	1.1	0.32161	N	0.582986	P	0.48230	0.907	P	0.47891	0.56	T	0.07252	-1.0782	10	0.33940	T	0.23	-10.7194	16.8254	0.85929	0.0:0.0:1.0:0.0	.	130	Q9BSE2	TMM79_HUMAN	L	130	ENSP00000295694:V130L;ENSP00000384748:V130L	ENSP00000295694:V130L	V	+	1	0	TMEM79	154522029	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	2.325000	0.43840	2.745000	0.94114	0.561000	0.74099	GTG	.		0.607	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323	
TSACC	128229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	156316635	156316635	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:156316635C>T	ENST00000368255.3	+	4	600	c.240C>T	c.(238-240)gcC>gcT	p.A80A	TSACC_ENST00000368254.1_Silent_p.A80A|TSACC_ENST00000368251.1_Silent_p.A80A|TSACC_ENST00000466306.1_Missense_Mutation_p.P77S|TSACC_ENST00000368252.1_Silent_p.A80A|TSACC_ENST00000481479.1_Missense_Mutation_p.P77S|TSACC_ENST00000368253.2_Silent_p.A80A|TSACC_ENST00000470342.1_Missense_Mutation_p.P77S	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	80						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										CCCAGCTCGCCCAACAACAGA	0.502																																					p.A80A		.											.	.	0			c.C240T						.						164.0	164.0	164.0					1																	156316635		2203	4300	6503	SO:0001819	synonymous_variant	128229	exon4			GCTCGCCCAACAA	AY048672	CCDS1141.1	1q22	2012-08-16	2012-08-16	2012-08-16	ENSG00000163467	ENSG00000163467			30636	protein-coding gene	gene with protein product	"""SSTK-interacting protein"""		"""chromosome 1 open reading frame 182"""	C1orf182		20829357	Standard	NM_144627		Approved	SSTK-IP, SIP	uc001foo.3	Q96A04	OTTHUMG00000024060	ENST00000368255.3:c.240C>T	1.37:g.156316635C>T		175	0		315	89	NM_144627	0	0	0	0	0	D3DVB9	Silent	SNP	ENST00000368255.3	37	CCDS1141.1																																																																																			.		0.502	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060594.1	NM_144627	
SH2D2A	9047	ucsc.edu;bcgsc.ca	37	1	156779504	156779504	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:156779504T>C	ENST00000368199.3	-	6	816	c.663A>G	c.(661-663)aaA>aaG	p.K221K	SH2D2A_ENST00000392306.2_Silent_p.K231K|SH2D2A_ENST00000368198.3_Silent_p.K203K	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	221	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTGCCCCTGTTTGATGATTG	0.602																																					p.K231K		.											.	SH2D2A-90	0			c.A693G						.						125.0	120.0	122.0					1																	156779504		2203	4300	6503	SO:0001819	synonymous_variant	9047	exon6			CCCCTGTTTGATG	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.663A>G	1.37:g.156779504T>C		93	2		136	37	NM_001161441	0	0	0	0	0	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	CCDS1159.1																																																																																			.		0.602	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975	
FCRL4	83417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	157559043	157559043	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:157559043C>T	ENST00000271532.1	-	3	393	c.258G>A	c.(256-258)caG>caA	p.Q86Q	FCRL4_ENST00000448509.2_5'Flank	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	86	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCCCCGGGCCTGGCATCTGT	0.483																																					p.Q86Q		.											.	FCRL4-229	0			c.G258A						.						83.0	85.0	84.0					1																	157559043		2203	4300	6503	SO:0001819	synonymous_variant	83417	exon3			CCGGGCCTGGCAT	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.258G>A	1.37:g.157559043C>T		165	0		280	140	NM_031282	0	0	0	0	0	Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	CCDS1166.1																																																																																			.		0.483	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	
CD5L	922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	157804410	157804410	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:157804410G>T	ENST00000368174.4	-	4	601	c.505C>A	c.(505-507)Ctc>Atc	p.L169I	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	169	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCGGCCCGGAGGCTCCAGCCT	0.607																																					p.L169I		.											.	CD5L-91	0			c.C505A						.						87.0	85.0	86.0					1																	157804410		2203	4300	6503	SO:0001583	missense	922	exon4			CCCGGAGGCTCCA	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.505C>A	1.37:g.157804410G>T	ENSP00000357156:p.Leu169Ile	101	0		122	30	NM_005894	0	0	0	0	0	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561913	0.27915	.	.	ENSG00000073754	ENST00000368174	T	0.36878	1.23	5.13	2.11	0.27256	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.181718	0.24864	N	0.034984	T	0.22003	0.0530	L	0.45698	1.435	0.21652	N	0.999609	P	0.49358	0.923	P	0.57009	0.811	T	0.06267	-1.0836	10	0.34782	T	0.22	.	3.4701	0.07563	0.1997:0.0:0.4547:0.3457	.	169	O43866	CD5L_HUMAN	I	169	ENSP00000357156:L169I	ENSP00000357156:L169I	L	-	1	0	CD5L	156071034	0.000000	0.05858	0.213000	0.23690	0.057000	0.15508	-0.251000	0.08818	0.267000	0.21916	0.655000	0.94253	CTC	.		0.607	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
CD1E	913	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158325660	158325660	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158325660T>A	ENST00000368167.3	+	4	908	c.669T>A	c.(667-669)ccT>ccA	p.P223P	CD1E_ENST00000452291.2_Silent_p.P34P|CD1E_ENST00000368156.1_Silent_p.P133P|CD1E_ENST00000368166.3_Silent_p.P34P|CD1E_ENST00000434258.1_Silent_p.P221P|CD1E_ENST00000368163.3_Silent_p.P223P|CD1E_ENST00000368161.3_Silent_p.P223P|CD1E_ENST00000368164.3_Silent_p.P34P|CD1E_ENST00000368155.3_Silent_p.P133P|CD1E_ENST00000368165.3_Silent_p.P133P|CD1E_ENST00000368157.1_Silent_p.P34P|CD1E_ENST00000444681.2_Silent_p.P124P|CD1E_ENST00000368160.3_Silent_p.P223P|CD1E_ENST00000368154.1_Silent_p.P34P	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	223	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTCCTGGCCCTGGCCGTCTGC	0.587																																					p.P223P		.											.	CD1E-93	0			c.T669A						.						47.0	48.0	47.0					1																	158325660		2203	4300	6503	SO:0001819	synonymous_variant	913	exon4			TGGCCCTGGCCGT	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.669T>A	1.37:g.158325660T>A		104	1		216	55	NM_001042585	0	0	0	0	0	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	CCDS41417.1																																																																																			.		0.587	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	
OR10T2	128360	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	158368349	158368349	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158368349C>A	ENST00000334438.1	-	1	907	c.908G>T	c.(907-909)aGa>aTa	p.R303I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	303						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)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TCCAAGAACTCTTTTCAATGC	0.368																																					p.R303I		.											.	OR10T2-70	0			c.G908T						.						39.0	36.0	37.0					1																	158368349		2203	4300	6503	SO:0001583	missense	128360	exon1			AGAACTCTTTTCA	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.908G>T	1.37:g.158368349C>A	ENSP00000334115:p.Arg303Ile	85	0		153	16	NM_001004475	0	0	0	0	0	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146215	0.37923	.	.	ENSG00000186306	ENST00000334438	T	0.41065	1.01	4.74	0.684	0.18003	.	0.307604	0.23317	N	0.049490	T	0.28896	0.0717	M	0.88704	2.975	0.32215	N	0.576029	P	0.41159	0.74	B	0.37047	0.24	T	0.16630	-1.0396	10	0.87932	D	0	.	8.3965	0.32559	0.0:0.5835:0.0:0.4165	.	303	Q8NGX3	O10T2_HUMAN	I	303	ENSP00000334115:R303I	ENSP00000334115:R303I	R	-	2	0	OR10T2	156634973	0.000000	0.05858	0.529000	0.27951	0.822000	0.46500	-1.291000	0.02775	0.221000	0.20879	0.655000	0.94253	AGA	.		0.368	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475	
OR10T2	128360	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158369178	158369178	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158369178G>T	ENST00000334438.1	-	1	78	c.79C>A	c.(79-81)Ctg>Atg	p.L27M		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	27						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)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACAAAAAGCAGCAGCTGGAGC	0.488																																					p.L27M		.											.	OR10T2-70	0			c.C79A						.						37.0	41.0	40.0					1																	158369178		2203	4300	6503	SO:0001583	missense	128360	exon1			AAAGCAGCAGCTG	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.79C>A	1.37:g.158369178G>T	ENSP00000334115:p.Leu27Met	67	0		105	60	NM_001004475	0	0	0	0	0	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427391	0.43122	.	.	ENSG00000186306	ENST00000334438	T	0.00637	6.05	4.65	2.77	0.32553	.	0.000000	0.30227	U	0.010104	T	0.00356	0.0011	L	0.58354	1.805	0.09310	N	1	P	0.38582	0.638	B	0.36666	0.23	T	0.49399	-0.8944	10	0.54805	T	0.06	.	7.5686	0.27894	0.2711:0.0:0.7289:0.0	.	27	Q8NGX3	O10T2_HUMAN	M	27	ENSP00000334115:L27M	ENSP00000334115:L27M	L	-	1	2	OR10T2	156635802	0.000000	0.05858	0.085000	0.20634	0.956000	0.61745	-0.250000	0.08830	0.564000	0.29238	0.591000	0.81541	CTG	.		0.488	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475	
OR10K2	391107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158390612	158390612	+	Silent	SNP	G	G	C	rs373065917		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158390612G>C	ENST00000314902.2	-	1	44	c.45C>G	c.(43-45)ctC>ctG	p.L15L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ATGAGAAGCCGAGGAAGATGA	0.512																																					p.L15L		.											.	OR10K2-69	0			c.C45G						.						64.0	54.0	57.0					1																	158390612		2203	4300	6503	SO:0001819	synonymous_variant	391107	exon1			GAAGCCGAGGAAG	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.45C>G	1.37:g.158390612G>C		114	0		184	53	NM_001004476	0	0	0	0	0		Silent	SNP	ENST00000314902.2	37	CCDS30896.1																																																																																			.		0.512	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476	
OR10K1	391109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158435408	158435408	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158435408C>G	ENST00000289451.2	+	1	137	c.57C>G	c.(55-57)tcC>tcG	p.S19S		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GCTTCTCATCCCTGGCCAGGC	0.507																																					p.S19S		.											.	OR10K1-69	0			c.C57G						.						104.0	90.0	95.0					1																	158435408		2203	4300	6503	SO:0001819	synonymous_variant	391109	exon1			CTCATCCCTGGCC	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.57C>G	1.37:g.158435408C>G		197	0		282	75	NM_001004473	0	0	0	0	0	Q6IFS2	Silent	SNP	ENST00000289451.2	37	CCDS30897.1																																																																																			.		0.507	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1		
OR10X1	128367	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158549327	158549327	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158549327C>A	ENST00000368150.1	-	1	362	c.363G>T	c.(361-363)ttG>ttT	p.L121F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CACCAAGTCCCAAGAAGAAGC	0.473																																					p.L121F		.											.	OR10X1-69	0			c.G363T						.						99.0	101.0	100.0					1																	158549327		2203	4300	6503	SO:0001583	missense	128367	exon1			AAGTCCCAAGAAG	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.363G>T	1.37:g.158549327C>A	ENSP00000357132:p.Leu121Phe	411	2		638	81	NM_001004477	0	0	0	0	0	Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335477	0.24253	.	.	ENSG00000186400	ENST00000368150	T	0.00840	5.63	5.0	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35525	N	0.003148	T	0.00524	0.0017	N	0.11651	0.15	0.27406	N	0.954701	D	0.64830	0.994	P	0.61070	0.883	T	0.58662	-0.7597	10	0.36615	T	0.2	.	6.74	0.23431	0.215:0.6712:0.0:0.1137	.	121	Q8NGY0	O10X1_HUMAN	F	121	ENSP00000357132:L121F	ENSP00000357132:L121F	L	-	3	2	OR10X1	156815951	0.000000	0.05858	1.000000	0.80357	0.554000	0.35429	-0.896000	0.04114	1.172000	0.42781	0.557000	0.71058	TTG	.		0.473	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477	
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158589090	158589090	+	Missense_Mutation	SNP	C	C	A	rs202169454		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158589090C>A	ENST00000368147.4	-	45	6632	c.6452G>T	c.(6451-6453)aGa>aTa	p.R2151I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2151					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTGACCTGTCTTGCCTCTTC	0.468																																					p.R2151I		.											.	SPTA1-142	0			c.G6452T						.						275.0	270.0	272.0					1																	158589090		2016	4177	6193	SO:0001583	missense	6708	exon45			ACCTGTCTTGCCT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6452G>T	1.37:g.158589090C>A	ENSP00000357129:p.Arg2151Ile	300	0		414	43	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267759	0.95399	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68181	-0.16;-0.31	5.31	5.31	0.75309	.	0.000000	0.34932	N	0.003567	D	0.82930	0.5144	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85264	0.1052	10	0.72032	D	0.01	.	17.7367	0.88395	0.0:1.0:0.0:0.0	.	2151	P02549	SPTA1_HUMAN	I	2151;2148	ENSP00000357130:R2151I;ENSP00000357129:R2148I	ENSP00000357129:R2148I	R	-	2	0	SPTA1	156855714	1.000000	0.71417	0.927000	0.36925	0.996000	0.88848	6.989000	0.76219	2.779000	0.95612	0.591000	0.81541	AGA	C|0.999;T|0.001		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158590083	158590083	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158590083G>T	ENST00000368147.4	-	44	6474	c.6294C>A	c.(6292-6294)gaC>gaA	p.D2098E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2098					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACATTTAAAGTCTGCTTGAG	0.517																																					p.D2098E		.											.	SPTA1-142	0			c.C6294A						.						75.0	73.0	74.0					1																	158590083		1918	4124	6042	SO:0001583	missense	6708	exon44			TTTAAAGTCTGCT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6294C>A	1.37:g.158590083G>T	ENSP00000357129:p.Asp2098Glu	170	0		255	35	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101302	0.37048	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.62639	0.01;0.01	5.05	-0.261	0.12963	.	0.244291	0.21145	N	0.079401	T	0.33118	0.0852	L	0.35644	1.08	0.39713	D	0.971351	B	0.28850	0.225	B	0.43575	0.424	T	0.18241	-1.0343	10	0.17832	T	0.49	.	3.323	0.07057	0.4069:0.0:0.296:0.2971	.	2098	P02549	SPTA1_HUMAN	E	2098;2095	ENSP00000357130:D2098E;ENSP00000357129:D2095E	ENSP00000357129:D2095E	D	-	3	2	SPTA1	156856707	1.000000	0.71417	0.109000	0.21407	0.712000	0.41017	1.943000	0.40253	-0.197000	0.10350	0.585000	0.79938	GAC	.		0.517	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158592778	158592778	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158592778G>C	ENST00000368147.4	-	43	6295	c.6115C>G	c.(6115-6117)Cag>Gag	p.Q2039E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2039					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TAAACCTTCTGTAGAGGCAGC	0.433																																					p.Q2039E		.											.	SPTA1-142	0			c.C6115G						.						134.0	133.0	133.0					1																	158592778		1864	4108	5972	SO:0001583	missense	6708	exon43			CCTTCTGTAGAGG	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6115C>G	1.37:g.158592778G>C	ENSP00000357129:p.Gln2039Glu	88	0		121	27	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	4.201	0.035997	0.08148	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68181	-0.31;-0.31	4.78	2.82	0.32997	.	.	.	.	.	T	0.28433	0.0703	L	0.29908	0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.20438	-1.0275	9	0.18276	T	0.48	.	8.7649	0.34698	0.0:0.146:0.5535:0.3005	.	2039	P02549	SPTA1_HUMAN	E	2039;2036	ENSP00000357130:Q2039E;ENSP00000357129:Q2036E	ENSP00000357129:Q2036E	Q	-	1	0	SPTA1	156859402	0.992000	0.36948	0.038000	0.18304	0.015000	0.08874	0.941000	0.29005	0.564000	0.29238	0.655000	0.94253	CAG	.		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158606464	158606464	+	Missense_Mutation	SNP	C	C	A	rs542123296		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158606464C>A	ENST00000368147.4	-	37	5457	c.5277G>T	c.(5275-5277)gaG>gaT	p.E1759D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1759					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGCTCCCCCTCTAGGCGTT	0.473																																					p.E1759D		.											.	SPTA1-142	0			c.G5277T						.						111.0	109.0	110.0					1																	158606464		1864	4100	5964	SO:0001583	missense	6708	exon37			CTCCCCCTCTAGG	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5277G>T	1.37:g.158606464C>A	ENSP00000357129:p.Glu1759Asp	87	0		112	29	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047397	0.36085	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.57752	0.38;0.38	5.26	-9.42	0.00610	.	.	.	.	.	T	0.22936	0.0554	L	0.52823	1.66	0.29580	N	0.849266	B	0.13145	0.007	B	0.27262	0.078	T	0.22906	-1.0203	9	0.48119	T	0.1	.	10.4496	0.44513	0.0:0.4297:0.1493:0.421	.	1759	P02549	SPTA1_HUMAN	D	1759	ENSP00000357130:E1759D;ENSP00000357129:E1759D	ENSP00000357129:E1759D	E	-	3	2	SPTA1	156873088	0.010000	0.17322	0.023000	0.16930	0.829000	0.46940	-1.062000	0.03468	-2.497000	0.00513	-0.813000	0.03139	GAG	.		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158653268	158653268	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158653268G>T	ENST00000368147.4	-	3	463	c.283C>A	c.(283-285)Caa>Aaa	p.Q95K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	95					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAAGGGATTGATGCTTCTGA	0.398																																					p.Q95K		.											.	SPTA1-142	0			c.C283A						.						201.0	177.0	185.0					1																	158653268		1859	4101	5960	SO:0001583	missense	6708	exon3			GGGATTGATGCTT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.283C>A	1.37:g.158653268G>T	ENSP00000357129:p.Gln95Lys	112	0		155	60	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005021	0.35415	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.31247	1.5;1.5	6.17	-2.46	0.06461	.	0.536654	0.13974	N	0.349935	T	0.13756	0.0333	L	0.51853	1.615	0.35127	D	0.767568	B	0.14012	0.009	B	0.18263	0.021	T	0.32188	-0.9916	10	0.21014	T	0.42	.	19.2008	0.93711	0.0:0.1608:0.7731:0.0662	.	95	P02549	SPTA1_HUMAN	K	95	ENSP00000357130:Q95K;ENSP00000357129:Q95K	ENSP00000357129:Q95K	Q	-	1	0	SPTA1	156919892	1.000000	0.71417	0.011000	0.14972	0.764000	0.43329	1.349000	0.33998	-0.287000	0.09064	-0.913000	0.02753	CAA	.		0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
OR6K2	81448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158670301	158670301	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158670301C>A	ENST00000359610.2	-	1	185	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AACTGGACCACTGTGATGATG	0.438																																					p.V48L		.											.	OR6K2-69	0			c.G142T						.						111.0	105.0	107.0					1																	158670301		2203	4300	6503	SO:0001583	missense	81448	exon1			GGACCACTGTGAT	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.142G>T	1.37:g.158670301C>A	ENSP00000352626:p.Val48Leu	168	0		243	75	NM_001005279	0	0	0	0	0	B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	6.618	0.482476	0.12581	.	.	ENSG00000196171	ENST00000359610	T	0.03004	4.08	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37577	N	0.002028	T	0.00754	0.0025	N	0.04959	-0.14	0.09310	N	0.999999	P	0.38582	0.638	B	0.32677	0.15	T	0.51458	-0.8703	10	0.14656	T	0.56	-9.7361	16.5301	0.84355	0.0:1.0:0.0:0.0	.	48	Q8NGY2	OR6K2_HUMAN	L	48	ENSP00000352626:V48L	ENSP00000352626:V48L	V	-	1	0	OR6K2	156936925	0.000000	0.05858	0.939000	0.37840	0.056000	0.15407	-0.740000	0.04861	2.392000	0.81423	0.655000	0.94253	GTG	.		0.438	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279	
OR6N1	128372	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	158735697	158735697	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158735697T>C	ENST00000335094.2	-	1	795	c.776A>G	c.(775-777)tAt>tGt	p.Y259C		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CAGCTGCACATACATGGAAAG	0.537																																					p.Y259C		.											.	OR6N1-69	0			c.A776G						.						181.0	169.0	173.0					1																	158735697		2203	4300	6503	SO:0001583	missense	128372	exon1			TGCACATACATGG	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.776A>G	1.37:g.158735697T>C	ENSP00000335535:p.Tyr259Cys	213	1		368	178	NM_001005185	0	0	0	0	0	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088586	0.36855	.	.	ENSG00000197403	ENST00000335094	T	0.00295	8.25	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000971	T	0.00468	0.0015	M	0.91663	3.23	0.32968	D	0.521965	D	0.89917	1.0	D	0.97110	1.0	T	0.22103	-1.0226	10	0.87932	D	0	-11.6779	13.3553	0.60625	0.0:0.0:0.0:1.0	.	259	Q8NGY5	OR6N1_HUMAN	C	259	ENSP00000335535:Y259C	ENSP00000335535:Y259C	Y	-	2	0	OR6N1	157002321	0.996000	0.38824	1.000000	0.80357	0.487000	0.33371	3.665000	0.54532	1.969000	0.57287	0.533000	0.62120	TAT	.		0.537	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185	
OR6N2	81442	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158747067	158747067	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158747067T>A	ENST00000339258.1	-	1	358	c.359A>T	c.(358-360)tAt>tTt	p.Y120F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GTATCTATCATAGGCCATGGC	0.493																																					p.Y120F		.											.	OR6N2-68	0			c.A359T						.						100.0	101.0	100.0					1																	158747067		2203	4300	6503	SO:0001583	missense	81442	exon1			CTATCATAGGCCA	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.359A>T	1.37:g.158747067T>A	ENSP00000344101:p.Tyr120Phe	293	0		380	54	NM_001005278	0	0	0	0	0	Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527786	0.27299	.	.	ENSG00000188340	ENST00000339258	T	0.01313	5.02	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34879	N	0.003601	T	0.01695	0.0054	L	0.28054	0.825	0.31868	N	0.620091	D	0.89917	1.0	D	0.80764	0.994	T	0.62996	-0.6735	10	0.28530	T	0.3	-15.2077	14.1215	0.65189	0.0:0.0:0.0:1.0	.	120	Q8NGY6	OR6N2_HUMAN	F	120	ENSP00000344101:Y120F	ENSP00000344101:Y120F	Y	-	2	0	OR6N2	157013691	0.062000	0.20869	1.000000	0.80357	0.986000	0.74619	0.839000	0.27586	2.169000	0.68431	0.528000	0.53228	TAT	.		0.493	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1		
CADM3	57863	hgsc.bcm.edu	37	1	159141616	159141616	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159141616C>A	ENST00000368125.4	+	1	218	c.61C>A	c.(61-63)Ccc>Acc	p.P21T	CADM3_ENST00000368124.4_Missense_Mutation_p.P21T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	21					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)			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)					CTGCTGGGCGCCCGGCGGGGC	0.766																																					p.P21T		.											.	CADM3-92	0			c.C61A						.						2.0	3.0	3.0					1																	159141616		1658	3563	5221	SO:0001583	missense	57863	exon1			TGGGCGCCCGGCG	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.61C>A	1.37:g.159141616C>A	ENSP00000357107:p.Pro21Thr	12	0		72	11	NM_021189	0	0	0	0	0	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195844	0.58126	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	T;T;T	0.61274	0.12;0.59;4.15	3.72	3.72	0.42706	Immunoglobulin-like (1);	0.000000	0.30969	U	0.008515	T	0.51856	0.1699	L	0.29908	0.895	0.30138	N	0.804165	B;D;D	0.69078	0.0;0.994;0.997	B;P;D	0.78314	0.002;0.908;0.991	T	0.51068	-0.8752	10	0.87932	D	0	.	11.2365	0.48944	0.0:1.0:0.0:0.0	.	21;21;21	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	T	21	ENSP00000357106:P21T;ENSP00000357107:P21T;ENSP00000387802:P21T	ENSP00000357106:P21T	P	+	1	0	CADM3	157408240	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.532000	0.36029	2.078000	0.62432	0.551000	0.68910	CCC	.		0.766	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
ACKR1	2532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	159175764	159175764	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159175764C>T	ENST00000368122.2	+	2	1214	c.535C>T	c.(535-537)Cta>Tta	p.L179L	DARC_ENST00000537147.1_Silent_p.L179L|DARC_ENST00000368121.2_Silent_p.L181L|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		179					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AGTGGCTGCCCTACTGACACT	0.627																																					p.L181L		.											.	DARC-659	0			c.C541T						.						41.0	33.0	36.0					1																	159175764		2203	4300	6503	SO:0001819	synonymous_variant	2532	exon1			GCTGCCCTACTGA																												ENST00000368122.2:c.535C>T	1.37:g.159175764C>T		120	0		184	37	NM_001122951	0	0	0	0	0	A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	CCDS1183.1																																																																																			.		0.627	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2		
FCER1A	2205	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	159273889	159273889	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159273889delC	ENST00000368115.1	+	4	347	c.248delC	c.(247-249)gccfs	p.A83fs	FCER1A_ENST00000368114.1_Frame_Shift_Del_p.A50fs	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	83	Ig-like 1.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATTGTGAATGCCAAATTTGAA	0.393																																					p.A83fs		.											.	FCER1A-524	0			c.248delC						.						78.0	77.0	77.0					1																	159273889		2203	4300	6503	SO:0001589	frameshift_variant	2205	exon4			TGAATGCCAAATT	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.248delC	1.37:g.159273889delC	ENSP00000357097:p.Ala83fs	175	0		207	102	NM_002001	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000368115.1	37	CCDS1184.1																																																																																			.		0.393	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001	
APCS	325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	159558001	159558001	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159558001T>C	ENST00000255040.2	+	2	272	c.175T>C	c.(175-177)Tat>Cat	p.Y59H		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	59	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TTTTCGAGCCTATAGTGATCT	0.418																																					p.Y59H		.											.	APCS-154	0			c.T175C						.						113.0	113.0	113.0					1																	159558001		2203	4300	6503	SO:0001583	missense	325	exon2			CGAGCCTATAGTG		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.175T>C	1.37:g.159558001T>C	ENSP00000255040:p.Tyr59His	41	0		87	16	NM_001639	0	0	0	0	0		Missense_Mutation	SNP	ENST00000255040.2	37	CCDS1186.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894591	0.52121	.	.	ENSG00000132703	ENST00000255040	T	0.64618	-0.11	4.45	4.45	0.53987	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.204747	0.43416	D	0.000569	T	0.70527	0.3234	M	0.76433	2.335	0.52099	D	0.999946	D	0.63880	0.993	D	0.72338	0.977	T	0.73228	-0.4049	10	0.49607	T	0.09	-10.5723	12.0095	0.53278	0.0:0.0:0.0:1.0	.	59	P02743	SAMP_HUMAN	H	59	ENSP00000255040:Y59H	ENSP00000255040:Y59H	Y	+	1	0	APCS	157824625	0.033000	0.19621	0.870000	0.34147	0.544000	0.35116	1.962000	0.40442	1.984000	0.57885	0.533000	0.62120	TAT	.		0.418	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639	
FCRL6	343413	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	159779392	159779392	+	Missense_Mutation	SNP	C	C	G	rs146386650		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159779392C>G	ENST00000368106.3	+	5	806	c.805C>G	c.(805-807)Cag>Gag	p.Q269E	FCRL6_ENST00000321935.6_Missense_Mutation_p.Q276E|FCRL6_ENST00000339348.5_Missense_Mutation_p.Q269E|FCRL6_ENST00000392235.3_Missense_Mutation_p.Q174E	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	269	Ig-like C2-type 3.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GAAGTCAGAACAGGATGCTGG	0.527																																					p.Q269E		.											.	FCRL6-93	0			c.C805G						.						70.0	67.0	68.0					1																	159779392		2203	4300	6503	SO:0001583	missense	343413	exon5			TCAGAACAGGATG	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.805C>G	1.37:g.159779392C>G	ENSP00000357086:p.Gln269Glu	140	0		220	58	NM_001004310	0	0	0	0	0	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	c	7.876	0.729156	0.15507	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.02498	4.27;4.27;4.27;4.27	3.91	-0.848	0.10727	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.742820	0.11116	N	0.597998	T	0.00784	0.0026	N	0.17674	0.51	0.09310	N	1	B;P;P;P	0.42871	0.011;0.677;0.679;0.792	B;B;B;B	0.44315	0.03;0.118;0.446;0.318	T	0.48399	-0.9039	9	.	.	.	.	4.6286	0.12489	0.5611:0.3208:0.0:0.1181	.	269;174;269;276	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	E	276;269;174;269	ENSP00000320625:Q276E;ENSP00000340949:Q269E;ENSP00000376068:Q174E;ENSP00000357086:Q269E	.	Q	+	1	0	FCRL6	158046016	0.724000	0.28038	0.064000	0.19789	0.027000	0.11550	0.238000	0.18004	0.039000	0.15632	-0.291000	0.09656	CAG	C|1.000;T|0.000		0.527	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310	
SLAMF9	89886	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	159922196	159922196	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:159922196delC	ENST00000368093.3	-	3	636	c.520delG	c.(520-522)gatfs	p.D174fs	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	174	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAAGTGCTATCCCCCCGGGAG	0.577																																					p.D174fs		.											.	SLAMF9-91	0			c.520delG						.						142.0	136.0	138.0					1																	159922196		2203	4300	6503	SO:0001589	frameshift_variant	89886	exon3			TGCTATCCCCCCG	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.520delG	1.37:g.159922196delC	ENSP00000357072:p.Asp174fs	106	0		203	46	NM_033438	0	0	0	0	0	Q5JRQ9|Q5JRR0|Q6UWG1	Frame_Shift_Del	DEL	ENST00000368093.3	37	CCDS1191.1																																																																																			.		0.577	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438	
IGSF8	93185	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	160063008	160063008	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:160063008C>A	ENST00000368086.1	-	4	1234	c.1018G>T	c.(1018-1020)Gca>Tca	p.A340S	IGSF8_ENST00000314485.7_Missense_Mutation_p.A340S|IGSF8_ENST00000460351.1_5'Flank			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	340	Ig-like C2-type 3.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACAGAGTATGCAGCATGACGG	0.672																																					p.A340S		.											.	IGSF8-90	0			c.G1018T						.						34.0	34.0	34.0					1																	160063008		2203	4300	6503	SO:0001583	missense	93185	exon4			AGTATGCAGCATG	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1018G>T	1.37:g.160063008C>A	ENSP00000357065:p.Ala340Ser	184	1		318	37	NM_052868	0	0	0	0	0	Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799455	0.31869	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475	T;T	0.04917	3.53;3.53	3.65	3.65	0.41850	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.295124	0.25037	N	0.033629	T	0.01387	0.0045	L	0.29908	0.895	0.32200	N	0.577983	B	0.25563	0.129	B	0.24006	0.05	T	0.41963	-0.9479	10	0.08599	T	0.76	-14.8145	8.8888	0.35420	0.0:0.8875:0.0:0.1125	.	340	Q969P0	IGSF8_HUMAN	S	340	ENSP00000316664:A340S;ENSP00000357065:A340S	ENSP00000316664:A340S	A	-	1	0	IGSF8	158329632	0.055000	0.20627	0.963000	0.40424	0.911000	0.54048	0.729000	0.26028	1.870000	0.54199	0.313000	0.20887	GCA	.		0.672	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868	
ATP1A4	480	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	160124894	160124894	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:160124894C>T	ENST00000368081.4	+	3	738	c.267C>T	c.(265-267)acC>acT	p.T89T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	89					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATACTGTTACCCCACCCCCCA	0.522																																					p.T89T		.											.	ATP1A4-94	0			c.C267T						.						118.0	117.0	118.0					1																	160124894		2203	4300	6503	SO:0001819	synonymous_variant	480	exon3			TGTTACCCCACCC	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.267C>T	1.37:g.160124894C>T		88	1		175	23	NM_144699	0	0	0	0	0	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																			.		0.522	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
ITLN2	142683	bcgsc.ca	37	1	160920966	160920966	+	Missense_Mutation	SNP	C	C	T	rs6680969	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:160920966C>T	ENST00000368029.3	-	4	365	c.308G>A	c.(307-309)cGt>cAt	p.R103H	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'Flank	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	103	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		R -> H (in dbSNP:rs6680969). {ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCACTTCCCACGCATGTCATT	0.587													T|||	2445	0.488219	0.3101	0.6066	5008	,	,		20197	0.5635		0.5736	False		,,,				2504	0.4796				p.R103H		.											.	ITLN2-91	0			c.G308A						.	T	HIS/ARG	1568,2838	489.9+/-361.6	272,1024,907	136.0	115.0	122.0		308	-7.7	0.0	1	dbSNP_116	122	4816,3784	614.0+/-396.2	1370,2076,854	no	missense	ITLN2	NM_080878.2	29	1642,3100,1761	TT,TC,CC		44.0,35.5878,49.085	benign	103/326	160920966	6384,6622	2203	4300	6503	SO:0001583	missense	142683	exon4			TTCCCACGCATGT	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.308G>A	1.37:g.160920966C>T	ENSP00000357008:p.Arg103His	280	0		498	13	NM_080878	0	0	0	0	0	Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	CCDS1212.1	1161	0.5315934065934066	166	0.33739837398373984	219	0.6049723756906077	345	0.6031468531468531	431	0.5686015831134564	c	0.010	-1.778554	0.00634	0.355878	0.56	ENSG00000158764	ENST00000368029	T	0.29917	1.55	3.85	-7.71	0.01254	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	5.644520	0.01244	N	0.008713	T	0.01695	0.0054	N	0.01352	-0.895	0.80722	P	0.0	B;B	0.13145	0.003;0.007	B;B	0.09377	0.004;0.004	T	0.04796	-1.0926	9	0.15499	T	0.54	15.2494	5.2058	0.15289	0.0694:0.322:0.1326:0.4759	rs6680969;rs60032875	102;103	A6NI51;Q8WWU7	.;ITLN2_HUMAN	H	103	ENSP00000357008:R103H	ENSP00000357008:R103H	R	-	2	0	ITLN2	159187590	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-4.621000	0.00207	-4.850000	0.00029	-3.076000	0.00066	CGT	C|0.495;T|0.505		0.587	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878	
F11R	50848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	160970019	160970019	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:160970019C>A	ENST00000368026.6	-	5	782	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.G121W	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	170	Ig-like V-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.G170W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ATCACTATCCCATCTTTGAAC	0.517																																					p.G170W		.											.	F11R-92	1	Substitution - Missense(1)	lung(1)	c.G508T						.						150.0	141.0	144.0					1																	160970019		2203	4300	6503	SO:0001583	missense	50848	exon5			CTATCCCATCTTT	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.508G>T	1.37:g.160970019C>A	ENSP00000357005:p.Gly170Trp	85	0		173	69	NM_016946	0	0	0	0	0	B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300560	0.40694	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.72725	-0.68;-0.68;-0.68	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.333787	0.33457	N	0.004883	D	0.84234	0.5427	M	0.93150	3.385	0.43110	D	0.994816	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.988;0.995;0.999;0.999;0.999	D	0.86989	0.2109	10	0.87932	D	0	.	9.5419	0.39257	0.0:0.9069:0.0:0.0931	.	174;121;170;170;170	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	W	170;170;170;121;174	ENSP00000357005:G170W;ENSP00000440812:G121W;ENSP00000394809:G174W	ENSP00000289779:G170W	G	-	1	0	F11R	159236643	0.465000	0.25815	0.976000	0.42696	0.021000	0.10359	1.973000	0.40550	2.666000	0.90696	0.563000	0.77884	GGG	.		0.517	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946	
HSPA6	3310	ucsc.edu;bcgsc.ca	37	1	161496045	161496045	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:161496045G>T	ENST00000309758.4	+	1	2010	c.1597G>T	c.(1597-1599)Gcc>Tcc	p.A533S	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	533					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGAGGATGAGGCCCAGAGGGA	0.542																																					p.A533S		.											.	HSPA6-226	0			c.G1597T						.						51.0	45.0	47.0					1																	161496045		2203	4300	6503	SO:0001583	missense	3310	exon1			GATGAGGCCCAGA		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1597G>T	1.37:g.161496045G>T	ENSP00000310219:p.Ala533Ser	642	4		966	364	NM_002155	0	0	0	0	0	Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	1.728	-0.494931	0.04322	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01034	5.42	3.45	3.45	0.39498	.	0.216551	0.22613	U	0.057806	T	0.00695	0.0023	M	0.91717	3.235	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.53401	-0.8444	10	0.11182	T	0.66	.	8.657	0.34068	0.0:0.2361:0.7639:0.0	.	533	P17066	HSP76_HUMAN	S	533;509	ENSP00000310219:A533S	ENSP00000310219:A533S	A	+	1	0	HSPA6	159762669	0.000000	0.05858	0.999000	0.59377	0.985000	0.73830	0.571000	0.23669	1.722000	0.51474	0.591000	0.81541	GCC	.		0.542	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155	
FCGR3A	2214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	161519625	161519625	+	Intron	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:161519625C>A	ENST00000436743.1	-	2	93				FCGR3A_ENST00000443193.1_Missense_Mutation_p.G4W|FCGR3A_ENST00000367969.3_Missense_Mutation_p.G4W|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000540048.1_Intron	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCCCAGCCCCTCCACCCATC	0.512																																					p.G4W		.											.	FCGR3A-91	0			c.G10T						.						109.0	103.0	105.0					1																	161519625		2203	4300	6503	SO:0001627	intron_variant	2214	exon1			CAGCCCCTCCACC	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.62-37G>T	1.37:g.161519625C>A		192	0		302	171	NM_001127592	0	0	0	0	0	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324479	0.24080	.	.	ENSG00000203747	ENST00000367969;ENST00000443193	T;T	0.02085	4.46;4.47	4.15	4.15	0.48705	.	.	.	.	.	T	0.02193	0.0068	N	0.14661	0.345	0.44492	D	0.997439	D	0.60160	0.987	D	0.62955	0.909	T	0.63730	-0.6571	9	0.66056	D	0.02	.	12.1477	0.54031	0.0:1.0:0.0:0.0	.	4	E9PG94	.	W	4	ENSP00000356946:G4W;ENSP00000392047:G4W	ENSP00000356946:G4W	G	-	1	0	FCGR3A	159786249	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	0.009000	0.13219	2.297000	0.77311	0.467000	0.42956	GGG	.		0.512	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569	
OLFML2B	25903	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	161967901	161967901	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:161967901T>A	ENST00000294794.3	-	6	1611	c.1188A>T	c.(1186-1188)caA>caT	p.Q396H	OLFML2B_ENST00000367940.2_Missense_Mutation_p.Q397H	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	396					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCGAGGTTGTTTGGAGTGTTG	0.617																																					p.Q396H		.											.	OLFML2B-69	0			c.A1188T						.						145.0	154.0	151.0					1																	161967901		2203	4300	6503	SO:0001583	missense	25903	exon6			GGTTGTTTGGAGT	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1188A>T	1.37:g.161967901T>A	ENSP00000294794:p.Gln396His	94	0		204	32	NM_015441	0	0	0	0	0	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	T	9.586	1.124790	0.20959	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86769	-2.17;-2.17	3.61	-5.43	0.02632	.	.	.	.	.	T	0.52208	0.1720	N	0.14661	0.345	0.27323	N	0.956985	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18777	-1.0326	8	0.34782	T	0.22	.	6.5404	0.22377	0.0:0.1487:0.2865:0.5649	.	397;396	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	H	396;397	ENSP00000294794:Q396H;ENSP00000356917:Q397H	ENSP00000294794:Q396H	Q	-	3	2	OLFML2B	160234525	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.936000	0.01549	-1.031000	0.03308	-0.464000	0.05259	CAA	.		0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
OLFML2B	25903	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	161987209	161987209	+	Missense_Mutation	SNP	C	C	A	rs532457018		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:161987209C>A	ENST00000294794.3	-	3	950	c.527G>T	c.(526-528)cGa>cTa	p.R176L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R176L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	176					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTTATCCACTCGCCCCACCAG	0.438																																					p.R176L		.											.	OLFML2B-69	0			c.G527T						.						109.0	108.0	108.0					1																	161987209		2203	4300	6503	SO:0001583	missense	25903	exon3			TCCACTCGCCCCA	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.527G>T	1.37:g.161987209C>A	ENSP00000294794:p.Arg176Leu	92	0		124	36	NM_015441	0	0	0	0	0	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169164	0.78339	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.49720	0.77;0.77	5.27	5.27	0.74061	.	.	.	.	.	T	0.55832	0.1945	L	0.48642	1.525	0.45837	D	0.998700	D;D	0.89917	0.999;1.0	D;D	0.79784	0.931;0.993	T	0.58896	-0.7555	8	0.87932	D	0	.	16.4462	0.83935	0.0:1.0:0.0:0.0	.	176;176	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	L	176	ENSP00000294794:R176L;ENSP00000356917:R176L	ENSP00000294794:R176L	R	-	2	0	OLFML2B	160253833	1.000000	0.71417	0.973000	0.42090	0.974000	0.67602	5.437000	0.66544	2.735000	0.93741	0.655000	0.94253	CGA	.		0.438	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
OLFML2B	25903	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	161989832	161989832	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:161989832C>A	ENST00000294794.3	-	2	738	c.315G>T	c.(313-315)gtG>gtT	p.V105V	OLFML2B_ENST00000367940.2_Silent_p.V105V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	105					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGATGGTTTCCACGGTATAGA	0.617																																					p.V105V		.											.	OLFML2B-69	0			c.G315T						.						94.0	94.0	94.0					1																	161989832		2203	4300	6503	SO:0001819	synonymous_variant	25903	exon2			GGTTTCCACGGTA	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.315G>T	1.37:g.161989832C>A		146	2		172	97	NM_015441	0	0	0	0	0	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	CCDS1236.1																																																																																			.		0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
NOS1AP	9722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	162313643	162313643	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:162313643G>T	ENST00000361897.5	+	6	874	c.472G>T	c.(472-474)Gtt>Ttt	p.V158F	NOS1AP_ENST00000530878.1_Missense_Mutation_p.V153F|MIR556_ENST00000384996.1_RNA	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	158	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.V158F(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TATGAGAATCGTTCGGACGGT	0.552																																					p.V158F		.											.	NOS1AP-228	2	Substitution - Missense(2)	kidney(2)	c.G472T						.						95.0	92.0	93.0					1																	162313643		2203	4300	6503	SO:0001583	missense	9722	exon6			AGAATCGTTCGGA	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.472G>T	1.37:g.162313643G>T	ENSP00000355133:p.Val158Phe	301	0		434	90	NM_014697	0	0	0	0	0	B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114204	0.77210	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.21361	2.01;2.01	5.79	5.79	0.91817	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.88181	2.935	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.57124	-0.7865	9	0.87932	D	0	.	18.6038	0.91259	0.0:0.0:1.0:0.0	.	153;153;158	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	F	153;158	ENSP00000431586:V153F;ENSP00000355133:V158F	ENSP00000355133:V158F	V	+	1	0	NOS1AP	160580267	1.000000	0.71417	0.977000	0.42913	0.346000	0.29079	9.337000	0.96545	2.733000	0.93635	0.655000	0.94253	GTT	.		0.552	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697	
C1orf111	284680	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	162345173	162345173	+	Missense_Mutation	SNP	G	G	C	rs139605225		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:162345173G>C	ENST00000367935.5	-	2	203	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	42										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GCCTCAGTGGGTACTGCTGTC	0.552																																					p.P42A		.											.	C1orf111-69	0			c.C124G						.						177.0	144.0	155.0					1																	162345173		2203	4300	6503	SO:0001583	missense	284680	exon2			CAGTGGGTACTGC	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.124C>G	1.37:g.162345173G>C	ENSP00000356912:p.Pro42Ala	204	0		374	28	NM_182581	0	0	0	0	0	Q6X961|Q8NEC3	Missense_Mutation	SNP	ENST00000367935.5	37	CCDS1238.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459136	0.43634	.	.	ENSG00000171722	ENST00000367935	T	0.56103	0.48	4.34	3.43	0.39272	.	0.297828	0.24126	N	0.041319	T	0.29556	0.0737	L	0.55481	1.735	0.23023	N	0.998415	P	0.42456	0.78	B	0.39068	0.289	T	0.23655	-1.0182	9	0.87932	D	0	-19.2755	8.0134	0.30365	0.1109:0.0:0.8891:0.0	.	42	Q5T0L3	CA111_HUMAN	A	42	ENSP00000356912:P42A	ENSP00000356912:P42A	P	-	1	0	C1orf111	160611797	0.027000	0.19231	0.034000	0.17996	0.673000	0.39480	1.074000	0.30703	1.043000	0.40175	0.650000	0.86243	CCC	G|0.999;T|0.000		0.552	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581	
HSD17B7	51478	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	162762484	162762484	+	Missense_Mutation	SNP	C	C	T	rs373109770		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:162762484C>T	ENST00000254521.3	+	2	126	c.71C>T	c.(70-72)gCg>gTg	p.A24V	HSD17B7_ENST00000367915.1_Missense_Mutation_p.A24V|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.A24V|HSD17B7_ENST00000367913.1_Missense_Mutation_p.A24V	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	24					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					CGGCTGCTGGCGGAAGATGAT	0.562																																					p.A24V		.											.	HSD17B7-91	0			c.C71T						.	C	VAL/ALA	0,4406		0,0,2203	29.0	25.0	26.0		71	-0.5	0.0	1		26	1,8597	1.2+/-3.3	0,1,4298	no	missense	HSD17B7	NM_016371.2	64	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	24/342	162762484	1,13003	2203	4299	6502	SO:0001583	missense	51478	exon2			TGCTGGCGGAAGA	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.71C>T	1.37:g.162762484C>T	ENSP00000254521:p.Ala24Val	132	0		173	22	NM_016371	0	0	0	0	0	Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654794	0.29425	0.0	1.16E-4	ENSG00000132196	ENST00000367915;ENST00000367917;ENST00000254521;ENST00000367913	D;T;D;D	0.88509	-2.39;2.81;-2.39;-2.39	4.89	-0.465	0.12157	NAD(P)-binding domain (1);	1.369740	0.04731	N	0.421157	T	0.70202	0.3197	M	0.62266	1.93	0.26143	N	0.980246	P	0.40180	0.705	B	0.31390	0.129	T	0.59679	-0.7409	9	0.30854	T	0.27	-0.0161	3.391	0.07289	0.3116:0.4815:0.1078:0.0991	.	24	P56937	DHB7_HUMAN	V	24	ENSP00000356892:A24V;ENSP00000356894:A24V;ENSP00000254521:A24V;ENSP00000356889:A24V	ENSP00000254521:A24V	A	+	2	0	HSD17B7	161029108	0.000000	0.05858	0.013000	0.15412	0.856000	0.48823	-0.099000	0.11007	-0.189000	0.10482	-0.290000	0.09829	GCG	.		0.562	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371	
HSD17B7	51478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	162766425	162766425	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:162766425C>T	ENST00000254521.3	+	3	345	c.290C>T	c.(289-291)cCa>cTa	p.P97L	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.P97L|HSD17B7_ENST00000367913.1_Missense_Mutation_p.P97L	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	97					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					ATGCCTAATCCACAACTAAAT	0.358																																					p.P97L		.											.	HSD17B7-91	0			c.C290T						.						154.0	135.0	141.0					1																	162766425		2203	4300	6503	SO:0001583	missense	51478	exon3			CTAATCCACAACT	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.290C>T	1.37:g.162766425C>T	ENSP00000254521:p.Pro97Leu	121	0		145	19	NM_016371	0	0	0	0	0	Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361831	0.82353	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000367913	D;D;D	0.87571	-2.27;-2.27;-2.27	4.79	4.79	0.61399	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	M	0.77486	2.375	0.37425	D	0.913791	D	0.67145	0.996	D	0.64410	0.925	D	0.92918	0.6353	9	0.87932	D	0	-44.2696	16.8254	0.85929	0.0:1.0:0.0:0.0	.	97	P56937	DHB7_HUMAN	L	97	ENSP00000356894:P97L;ENSP00000254521:P97L;ENSP00000356889:P97L	ENSP00000254521:P97L	P	+	2	0	HSD17B7	161033049	1.000000	0.71417	0.903000	0.35520	0.825000	0.46686	7.259000	0.78381	2.351000	0.79841	0.644000	0.83932	CCA	.		0.358	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371	
LMX1A	4009	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	165322434	165322434	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:165322434G>A	ENST00000342310.3	-	3	524	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	LMX1A_ENST00000367893.4_Silent_p.L48L|LMX1A_ENST00000294816.2_Silent_p.L48L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	48	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TTGAGCCGCAGCAGAAACCTG	0.612																																					p.L48L		.											.	LMX1A-92	0			c.C142T						.						60.0	57.0	58.0					1																	165322434		2203	4300	6503	SO:0001819	synonymous_variant	4009	exon3			GCCGCAGCAGAAA	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.142C>T	1.37:g.165322434G>A		87	0		169	68	NM_001174069	0	0	0	0	0	B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	ENST00000342310.3	37	CCDS1247.1																																																																																			.		0.612	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398	
LRRC52	440699	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	165513609	165513609	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:165513609T>G	ENST00000294818.1	+	1	366	c.76T>G	c.(76-78)Tgt>Ggt	p.C26G	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	26	LRRNT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AGGGTCAAAGTGTCCAAATAA	0.512																																					p.C26G		.											.	LRRC52-91	0			c.T76G						.						117.0	113.0	115.0					1																	165513609		2203	4300	6503	SO:0001583	missense	440699	exon1			TCAAAGTGTCCAA	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.76T>G	1.37:g.165513609T>G	ENSP00000294818:p.Cys26Gly	191	3		299	91	NM_001005214	0	0	0	0	0	A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805522	0.70682	.	.	ENSG00000162763	ENST00000294818	D	0.99800	-6.8	5.12	5.12	0.69794	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.97829	4.085	0.32406	N	0.551254	D	0.69078	0.997	D	0.75484	0.986	D	0.96497	0.9368	9	0.87932	D	0	.	12.9715	0.58515	0.0:0.0:0.0:1.0	.	26	Q8N7C0	LRC52_HUMAN	G	26	ENSP00000294818:C26G	ENSP00000294818:C26G	C	+	1	0	LRRC52	163780233	1.000000	0.71417	0.980000	0.43619	0.973000	0.67179	6.995000	0.76257	2.159000	0.67721	0.456000	0.33151	TGT	.		0.512	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214	
FAM78B	149297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	166039894	166039894	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:166039894G>T	ENST00000338353.3	-	3	959	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	FAM78B_ENST00000354422.3_Missense_Mutation_p.L124M			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	124										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GGGCCAACCAGGGTCACAGTT	0.537																																					p.L124M		.											.	FAM78B-91	0			c.C370A						.						145.0	132.0	137.0					1																	166039894		2203	4300	6503	SO:0001583	missense	149297	exon2			CAACCAGGGTCAC	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.370C>A	1.37:g.166039894G>T	ENSP00000339681:p.Leu124Met	84	0		163	25	NM_001017961	0	0	0	0	0	B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303604	0.40795	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.54	4.63	0.57726	.	0.129687	0.51477	D	0.000086	T	0.28928	0.0718	L	0.47716	1.5	0.43164	D	0.994957	B	0.19073	0.033	B	0.22152	0.038	T	0.30297	-0.9983	8	0.87932	D	0	0.074	8.9914	0.36026	0.1678:0.0:0.8322:0.0	.	124	Q5VT40	FA78B_HUMAN	M	124	.	ENSP00000339681:L124M	L	-	1	2	FAM78B	164306518	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.592000	0.23984	1.476000	0.48215	-0.137000	0.14449	CTG	.		0.537	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961	
POGK	57645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	166816741	166816741	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:166816741C>A	ENST00000367875.1	+	4	630	c.270C>A	c.(268-270)ttC>ttA	p.F90L	POGK_ENST00000537173.1_Intron|POGK_ENST00000536514.1_Missense_Mutation_p.F5L|POGK_ENST00000367876.4_Missense_Mutation_p.F90L			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AATTCCCATTCCCTAAGCCAG	0.448																																					p.F90L	GBM(76;192 1530 30153 48742)	.											.	POGK-91	0			c.C270A						.						65.0	62.0	63.0					1																	166816741		2203	4300	6503	SO:0001583	missense	57645	exon4			CCCATTCCCTAAG	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.270C>A	1.37:g.166816741C>A	ENSP00000356849:p.Phe90Leu	95	0		147	18	NM_017542	0	0	0	0	0	Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357214	0.41801	.	.	ENSG00000143157	ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T	0.37584	1.19;5.77;5.77;5.77	4.91	2.6	0.31112	Krueppel-associated box (3);	0.000000	0.48286	D	0.000188	T	0.05410	0.0143	N	0.03930	-0.32	0.32602	N	0.525725	B;B	0.32829	0.386;0.386	B;B	0.36030	0.216;0.216	T	0.21415	-1.0246	9	0.27785	T	0.31	-30.7306	4.1057	0.10035	0.1985:0.621:0.0:0.1805	.	5;90	B4DS22;Q9P215	.;POGK_HUMAN	L	5;90;90;90	ENSP00000441187:F5L;ENSP00000404402:F90L;ENSP00000356850:F90L;ENSP00000356849:F90L	ENSP00000356849:F90L	F	+	3	2	POGK	165083365	0.947000	0.32204	1.000000	0.80357	0.981000	0.71138	0.125000	0.15749	0.662000	0.31006	0.655000	0.94253	TTC	.		0.448	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542	
ILDR2	387597	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	166891891	166891891	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:166891891C>A	ENST00000271417.3	-	8	1205	c.1150G>T	c.(1150-1152)Gca>Tca	p.A384S	ILDR2_ENST00000526687.1_Missense_Mutation_p.A276S|ILDR2_ENST00000525740.1_Missense_Mutation_p.A257S|ILDR2_ENST00000469934.2_Missense_Mutation_p.A384S|ILDR2_ENST00000529071.1_Missense_Mutation_p.A365S|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.A325S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	384					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A384T(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCGCGGCTTGCCCCACTGCTG	0.577																																					p.A384S		.											.	ILDR2-91	1	Substitution - Missense(1)	large_intestine(1)	c.G1150T						.						165.0	174.0	171.0					1																	166891891		2203	4300	6503	SO:0001583	missense	387597	exon8			GGCTTGCCCCACT	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1150G>T	1.37:g.166891891C>A	ENSP00000271417:p.Ala384Ser	99	1		123	58	NM_199351	0	0	0	0	0		Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	3.070	-0.191438	0.06299	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T	0.76060	0.62;-0.99;0.54;0.62;-0.99;0.01	5.24	-10.5	0.00291	.	0.597505	0.17896	N	0.158344	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.44050	-0.9353	10	0.07175	T	0.84	.	2.0316	0.03530	0.1148:0.2249:0.2286:0.4318	.	384	Q71H61	ILDR2_HUMAN	S	384;257;384;365;276;325	ENSP00000271417:A384S;ENSP00000436120:A257S;ENSP00000437008:A384S;ENSP00000436882:A365S;ENSP00000434273:A276S;ENSP00000432750:A325S	ENSP00000271417:A384S	A	-	1	0	ILDR2	165158515	0.000000	0.05858	0.005000	0.12908	0.856000	0.48823	-1.155000	0.03163	-2.005000	0.00959	-0.367000	0.07326	GCA	.		0.577	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351	
MAEL	84944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	166962004	166962004	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:166962004C>A	ENST00000367872.4	+	4	651	c.407C>A	c.(406-408)cCt>cAt	p.P136H	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.P105H	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	136					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CGCTTCCTCCCTTGTGAAATT	0.378																																					p.P136H		.											.	MAEL-91	0			c.C407A						.						116.0	114.0	115.0					1																	166962004		2203	4300	6503	SO:0001583	missense	84944	exon4			TCCTCCCTTGTGA	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.407C>A	1.37:g.166962004C>A	ENSP00000356846:p.Pro136His	25	0		41	5	NM_032858	0	0	0	0	0	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177091	0.78564	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.63744	-0.06;0.03;0.1	5.65	5.65	0.86999	Domain of unknown function DUF1898 (1);	0.000000	0.64402	D	0.000005	T	0.66076	0.2753	L	0.29908	0.895	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70339	-0.4899	10	0.87932	D	0	.	18.5057	0.90896	0.0:1.0:0.0:0.0	.	105;136	E9JVC3;Q96JY0	.;MAEL_HUMAN	H	136;105;105	ENSP00000356846:P136H;ENSP00000356844:P105H;ENSP00000402143:P105H	ENSP00000356844:P105H	P	+	2	0	MAEL	165228628	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.613000	0.54152	2.660000	0.90430	0.467000	0.42956	CCT	.		0.378	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	
DUSP27	92235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	167086597	167086597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:167086597G>T	ENST00000361200.2	+	4	404	c.238G>T	c.(238-240)Gag>Tag	p.E80*	DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E80*|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E80*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	80					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						AGCAGACGCAGAGTGTCCAGG	0.557																																					p.E80X		.											.	DUSP27-71	0			c.G238T						.						49.0	41.0	44.0					1																	167086597		2203	4300	6503	SO:0001587	stop_gained	92235	exon3			GACGCAGAGTGTC	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.238G>T	1.37:g.167086597G>T	ENSP00000354483:p.Glu80*	138	0		202	113	NM_001080426	0	0	0	0	0	A0AUM4|Q9C074	Nonsense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	38	6.833638	0.97873	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.1	3.08	0.35506	.	0.249817	0.31233	N	0.008013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-9.1716	5.4877	0.16759	0.2335:0.1474:0.6191:0.0	.	.	.	.	X	80	.	ENSP00000271385:E80X	E	+	1	0	DUSP27	165353221	0.100000	0.21855	0.170000	0.22879	0.992000	0.81027	2.570000	0.45981	1.121000	0.41925	0.561000	0.74099	GAG	.		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
DUSP27	92235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	167096341	167096341	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:167096341C>A	ENST00000361200.2	+	6	2139	c.1973C>A	c.(1972-1974)cCc>cAc	p.P658H	DUSP27_ENST00000443333.1_Missense_Mutation_p.P658H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P658H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	658					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						GGGAGCATTCCCCTGTCTGCG	0.652																																					p.P658H		.											.	DUSP27-71	0			c.C1973A						.						45.0	41.0	43.0					1																	167096341		2203	4300	6503	SO:0001583	missense	92235	exon5			GCATTCCCCTGTC	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.1973C>A	1.37:g.167096341C>A	ENSP00000354483:p.Pro658His	255	0		416	64	NM_001080426	0	0	0	0	0	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.089956	0.36855	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.15372	2.43;2.43;2.43	5.1	3.21	0.36854	.	0.427328	0.20047	N	0.100385	T	0.27027	0.0662	M	0.71581	2.175	0.47511	D	0.999448	D	0.89917	1.0	D	0.87578	0.998	T	0.03344	-1.1046	10	0.87932	D	0	-11.6544	10.6082	0.45406	0.0:0.7945:0.133:0.0725	.	658	Q5VZP5	DUS27_HUMAN	H	658	ENSP00000354483:P658H;ENSP00000271385:P658H;ENSP00000404874:P658H	ENSP00000271385:P658H	P	+	2	0	DUSP27	165362965	1.000000	0.71417	0.989000	0.46669	0.155000	0.21991	5.687000	0.68219	0.536000	0.28733	-0.179000	0.13096	CCC	.		0.652	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
DUSP27	92235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	167096491	167096491	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:167096491C>A	ENST00000361200.2	+	6	2289	c.2123C>A	c.(2122-2124)cCt>cAt	p.P708H	DUSP27_ENST00000443333.1_Missense_Mutation_p.P708H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P708H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	708					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						ACACCCCTGCCTAACCTGCCA	0.557																																					p.P708H		.											.	DUSP27-71	0			c.C2123A						.						57.0	60.0	59.0					1																	167096491		2203	4300	6503	SO:0001583	missense	92235	exon5			CCCTGCCTAACCT	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.2123C>A	1.37:g.167096491C>A	ENSP00000354483:p.Pro708His	161	0		274	119	NM_001080426	0	0	0	0	0	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809420	0.70797	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.06933	3.24;3.24;3.24	4.68	4.68	0.58851	.	1.189520	0.06193	N	0.681672	T	0.20901	0.0503	M	0.71581	2.175	0.58432	D	0.999993	D	0.76494	0.999	P	0.60236	0.871	T	0.01202	-1.1420	10	0.87932	D	0	-16.4079	17.7941	0.88564	0.0:1.0:0.0:0.0	.	708	Q5VZP5	DUS27_HUMAN	H	708	ENSP00000354483:P708H;ENSP00000271385:P708H;ENSP00000404874:P708H	ENSP00000271385:P708H	P	+	2	0	DUSP27	165363115	1.000000	0.71417	0.600000	0.28864	0.971000	0.66376	5.615000	0.67702	2.418000	0.82041	0.643000	0.83706	CCT	.		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
CD247	919	broad.mit.edu	37	1	167487681	167487681	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:167487681T>G	ENST00000362089.5	-	1	94	c.22A>C	c.(22-24)Acc>Ccc	p.T8P	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Missense_Mutation_p.T8P			P20963	CD3Z_HUMAN	CD247 molecule	8					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	ATGGCCGCGGTGAAAAGCGCC	0.577																																					p.T8P	Ovarian(192;1815 2869 36877 43334)	.											.	CD247-90	0			c.A22C						.						93.0	86.0	88.0					1																	167487681		2203	4300	6503	SO:0001583	missense	919	exon1			CCGCGGTGAAAAG	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.22A>C	1.37:g.167487681T>G	ENSP00000354782:p.Thr8Pro	49	1		92	9	NM_198053	0	0	0	0	0	B1AK49|Q5VX13|Q8TAX4	Missense_Mutation	SNP	ENST00000362089.5	37	CCDS1261.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025688	0.35701	.	.	ENSG00000198821	ENST00000392122;ENST00000362089	.	.	.	5.02	-0.11	0.13580	.	0.941101	0.08531	U	0.931998	T	0.08313	0.0207	N	0.22421	0.69	0.21697	N	0.999589	D;B;B	0.54601	0.967;0.167;0.104	P;B;B	0.46026	0.501;0.128;0.06	T	0.11060	-1.0603	8	0.66056	D	0.02	.	1.1087	0.01700	0.147:0.1729:0.1632:0.5169	.	8;8;8	Q6KAV0;P20963-3;P20963	.;.;CD3Z_HUMAN	P	8	.	ENSP00000354782:T8P	T	-	1	0	CD247	165754305	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	0.195000	0.17155	-0.177000	0.10690	0.533000	0.62120	ACC	.		0.577	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1	NM_198053	
RCSD1	92241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	167659302	167659302	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:167659302C>A	ENST00000367854.3	+	4	546	c.215C>A	c.(214-216)gCg>gAg	p.A72E	RCSD1_ENST00000537350.1_Missense_Mutation_p.A42E	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	72					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCACCCAATGCGAGCCACCCT	0.453																																					p.A72E		.											.	RCSD1-517	0			c.C215A						.						154.0	142.0	146.0					1																	167659302		2203	4300	6503	SO:0001583	missense	92241	exon4			CCAATGCGAGCCA	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.215C>A	1.37:g.167659302C>A	ENSP00000356828:p.Ala72Glu	157	0		256	31	NM_052862	0	0	0	0	0	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673909	0.47781	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.55052	0.54;0.63	5.64	3.79	0.43588	.	0.477138	0.22784	N	0.055681	T	0.52025	0.1709	M	0.69823	2.125	0.38775	D	0.954648	D;D	0.69078	0.994;0.997	D;P	0.62955	0.909;0.84	T	0.53258	-0.8464	9	0.23302	T	0.38	-6.2916	10.4677	0.44618	0.0:0.8507:0.0:0.1493	.	42;72	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	E	72;42	ENSP00000356828:A72E;ENSP00000439409:A42E	ENSP00000356828:A72E	A	+	2	0	RCSD1	165925926	0.438000	0.25602	0.002000	0.10522	0.299000	0.27559	3.147000	0.50639	0.746000	0.32786	0.650000	0.86243	GCG	.		0.453	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862	
XCL1	6375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	168550362	168550362	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:168550362C>A	ENST00000367818.3	+	3	414	c.249C>A	c.(247-249)agC>agA	p.S83R		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	83					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TGGTCAGGAGCATGGACAGGA	0.478																																					p.S83R		.											.	XCL1-90	0			c.C249A						.						200.0	181.0	188.0					1																	168550362		2203	4300	6503	SO:0001583	missense	6375	exon3			CAGGAGCATGGAC	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.249C>A	1.37:g.168550362C>A	ENSP00000356792:p.Ser83Arg	326	0		477	173	NM_002995	0	0	0	0	0	Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	C	6.903	0.536255	0.13188	.	.	ENSG00000143184	ENST00000367818	T	0.04406	3.63	4.83	-6.16	0.02098	Chemokine interleukin-8-like domain (3);	1.171370	0.05916	N	0.632656	T	0.00906	0.0030	N	0.11427	0.14	0.24816	N	0.99262	P	0.40266	0.71	B	0.44224	0.444	T	0.38887	-0.9640	9	0.21014	T	0.42	0.0561	6.5451	0.22402	0.1209:0.3517:0.0:0.5274	.	83	P47992	XCL1_HUMAN	R	83	ENSP00000356792:S83R	ENSP00000356792:S83R	S	+	3	2	XCL1	166816986	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.908000	0.04063	-1.207000	0.02637	-0.150000	0.13652	AGC	.		0.478	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995	
KIFAP3	22920	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	170015874	170015874	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:170015874G>A	ENST00000361580.2	-	3	525	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R60C|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R56C	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	100					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATGAATCACGGCGGTTCTGT	0.363																																					p.R100C		.											.	KIFAP3-91	0			c.C298T						.						136.0	130.0	132.0					1																	170015874		2203	4300	6503	SO:0001583	missense	22920	exon3			AATCACGGCGGTT	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.298C>T	1.37:g.170015874G>A	ENSP00000354560:p.Arg100Cys	161	0		278	58	NM_014970	0	0	0	0	0	B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197803	0.79015	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767	T;T;T	0.50548	0.74;0.74;0.74	5.62	5.62	0.85841	Armadillo-like helical (1);	0.045878	0.85682	D	0.000000	T	0.35566	0.0936	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.57846	0.828;0.765	T	0.09357	-1.0678	9	.	.	.	-13.1783	12.8625	0.57922	0.0:0.0:0.7363:0.2637	.	56;100	B1AKU5;Q92845	.;KIFA3_HUMAN	C	100;60;56	ENSP00000354560:R100C;ENSP00000356739:R60C;ENSP00000356741:R56C	.	R	-	1	0	KIFAP3	168282498	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	3.655000	0.54460	2.809000	0.96659	0.467000	0.42956	CGT	.		0.363	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970	
PRRX1	5396	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	170633519	170633519	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:170633519G>C	ENST00000239461.6	+	1	473	c.160G>C	c.(160-162)Gat>Cat	p.D54H	PRRX1_ENST00000367760.3_Missense_Mutation_p.D54H|PRRX1_ENST00000497230.2_Missense_Mutation_p.D54H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	54					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCACAGGCGGATGAGAACGT	0.672																																					p.D54H		.											.	PRRX1-659	0			c.G160C						.						31.0	30.0	31.0					1																	170633519		2203	4300	6503	SO:0001583	missense	5396	exon1			CAGGCGGATGAGA	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.160G>C	1.37:g.170633519G>C	ENSP00000239461:p.Asp54His	177	0		616	72	NM_006902	0	0	0	0	0	B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464419	0.63513	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.92199	-2.99;-2.88;-2.98;-2.88	4.63	4.63	0.57726	.	0.051010	0.85682	D	0.000000	D	0.86760	0.6010	N	0.19112	0.55	0.80722	D	1	P;P	0.41498	0.668;0.752	P;P	0.47705	0.455;0.555	D	0.89525	0.3781	10	0.62326	D	0.03	.	16.2143	0.82195	0.0:0.0:1.0:0.0	.	54;54	P54821;P54821-2	PRRX1_HUMAN;.	H	7;54;54;54	ENSP00000451943:D7H;ENSP00000356734:D54H;ENSP00000239461:D54H;ENSP00000450762:D54H	ENSP00000239461:D54H	D	+	1	0	PRRX1	168900143	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.656000	0.91102	2.399000	0.81585	0.555000	0.69702	GAT	.		0.672	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902	
TNN	63923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	175046899	175046899	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175046899G>T	ENST00000239462.4	+	2	458	c.345G>T	c.(343-345)ctG>ctT	p.L115L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	115					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGAAGAAGCTGGAGGAAGAGA	0.552																																					p.L115L		.											.	TNN-138	0			c.G345T						.						56.0	59.0	58.0					1																	175046899		2203	4300	6503	SO:0001819	synonymous_variant	63923	exon2			GAAGCTGGAGGAA	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.345G>T	1.37:g.175046899G>T		311	0		459	126	NM_022093	0	0	0	0	0	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1																																																																																			.		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNN	63923	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	175086185	175086185	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175086185T>A	ENST00000239462.4	+	10	2343	c.2230T>A	c.(2230-2232)Tct>Act	p.S744T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	744	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCGCTACACCTCTGCCAAGGA	0.632																																					p.S744T		.											.	TNN-138	0			c.T2230A						.						84.0	81.0	82.0					1																	175086185		2203	4300	6503	SO:0001583	missense	63923	exon10			TACACCTCTGCCA	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2230T>A	1.37:g.175086185T>A	ENSP00000239462:p.Ser744Thr	291	1		421	54	NM_022093	0	0	0	0	0	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.746857	0.69418	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57107	0.42	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.131393	0.51477	D	0.000100	T	0.70456	0.3226	M	0.71920	2.185	0.52099	D	0.999942	D	0.76494	0.999	D	0.87578	0.998	T	0.71876	-0.4460	10	0.48119	T	0.1	.	13.9036	0.63821	0.0:0.0:0.0:1.0	.	744	Q9UQP3	TENN_HUMAN	T	744;567	ENSP00000239462:S744T	ENSP00000239462:S744T	S	+	1	0	TNN	173352808	1.000000	0.71417	0.993000	0.49108	0.581000	0.36288	5.102000	0.64572	2.164000	0.68074	0.533000	0.62120	TCT	.		0.632	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNN	63923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	175092664	175092664	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175092664A>T	ENST00000239462.4	+	12	2892	c.2779A>T	c.(2779-2781)Agg>Tgg	p.R927W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	927	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGGAGAGACCAGGGAGGTTCC	0.617																																					p.R927W		.											.	TNN-138	0			c.A2779T						.						94.0	80.0	84.0					1																	175092664		2203	4300	6503	SO:0001583	missense	63923	exon12			GAGACCAGGGAGG	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2779A>T	1.37:g.175092664A>T	ENSP00000239462:p.Arg927Trp	309	0		444	100	NM_022093	0	0	0	0	0	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.501891	0.26949	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.49432	0.78	4.98	-2.12	0.07165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.977933	0.08448	N	0.944400	T	0.62865	0.2463	M	0.81802	2.56	0.09310	N	1	D	0.59767	0.986	D	0.67103	0.949	T	0.54207	-0.8328	10	0.62326	D	0.03	.	5.3852	0.16215	0.5122:0.271:0.2168:0.0	.	927	Q9UQP3	TENN_HUMAN	W	927;750	ENSP00000239462:R927W	ENSP00000239462:R927W	R	+	1	2	TNN	173359287	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.251000	0.08818	-0.598000	0.05806	-1.787000	0.00631	AGG	.		0.617	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNN	63923	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	175116153	175116153	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175116153G>T	ENST00000239462.4	+	19	3959	c.3846G>T	c.(3844-3846)gaG>gaT	p.E1282D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1282					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACAGCAGGGAGCCTGTCCTGG	0.552											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E1282D		.											.	TNN-138	0			c.G3846T						.						59.0	56.0	57.0					1																	175116153		2203	4300	6503	SO:0001583	missense	63923	exon19			CAGGGAGCCTGTC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3846G>T	1.37:g.175116153G>T	ENSP00000239462:p.Glu1282Asp	193	1	1921	338	99	NM_022093	0	0	0	0	0	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185320	0.38609	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.26067	1.76	5.19	2.16	0.27623	.	0.736785	0.12728	N	0.444115	T	0.17066	0.0410	L	0.31294	0.92	0.25438	N	0.988123	B	0.15141	0.012	B	0.12156	0.007	T	0.31392	-0.9945	10	0.20046	T	0.44	.	8.9471	0.35764	0.0:0.1496:0.5603:0.2901	.	1282	Q9UQP3	TENN_HUMAN	D	1282;1105	ENSP00000239462:E1282D	ENSP00000239462:E1282D	E	+	3	2	TNN	173382776	0.619000	0.27059	0.238000	0.24106	0.112000	0.19704	0.570000	0.23653	0.156000	0.19299	-0.313000	0.08912	GAG	.		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNR	7143	ucsc.edu;bcgsc.ca	37	1	175348815	175348815	+	Silent	SNP	G	G	T	rs139768853	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175348815G>T	ENST00000367674.2	-	9	2544	c.1836C>A	c.(1834-1836)ctC>ctA	p.L612L	TNR_ENST00000263525.2_Silent_p.L612L			Q92752	TENR_HUMAN	tenascin R	612	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		p.L612L(3)		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)					TATCCCACTCGAGGTCAAGGC	0.507																																					p.L612L		.											.	TNR-324	3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	c.C1836A						.						106.0	80.0	89.0					1																	175348815		2203	4300	6503	SO:0001819	synonymous_variant	7143	exon9			CCACTCGAGGTCA	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.1836C>A	1.37:g.175348815G>T		193	2		269	134	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																			G|0.998;A|0.002		0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
TNR	7143	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	175362928	175362928	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175362928G>T	ENST00000367674.2	-	6	2052	c.1344C>A	c.(1342-1344)agC>agA	p.S448R	TNR_ENST00000263525.2_Missense_Mutation_p.S448R			Q92752	TENR_HUMAN	tenascin R	448	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)					TTGGAATGAAGCTGATTTCCC	0.468																																					p.S448R		.											.	TNR-324	0			c.C1344A						.						226.0	222.0	223.0					1																	175362928		2203	4300	6503	SO:0001583	missense	7143	exon6			AATGAAGCTGATT	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.1344C>A	1.37:g.175362928G>T	ENSP00000356646:p.Ser448Arg	149	1		227	72	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.56|16.56	3.157976|3.157976	0.57368|0.57368	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|T;T	.|0.56103	.|0.48;0.48	4.51|4.51	4.51|4.51	0.55191|0.55191	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60064|0.60064	0.2240|0.2240	L|L	0.33293|0.33293	1|1	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.53078|0.53078	-0.8489|-0.8489	5|10	.|0.11794	.|T	.|0.64	.|.	17.1817|17.1817	0.86857|0.86857	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|448	.|Q92752	.|TENR_HUMAN	I|R	173|448	.|ENSP00000356646:S448R;ENSP00000263525:S448R	.|ENSP00000263525:S448R	L|S	-|-	1|3	0|2	TNR|TNR	173629551|173629551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.250000|6.250000	0.72435|0.72435	2.202000|2.202000	0.70862|0.70862	0.643000|0.643000	0.83706|0.83706	CTT|AGC	.		0.468	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
TNR	7143	ucsc.edu;bcgsc.ca	37	1	175372387	175372387	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:175372387C>A	ENST00000367674.2	-	4	1573	c.865G>T	c.(865-867)Ggt>Tgt	p.G289C	TNR_ENST00000263525.2_Missense_Mutation_p.G289C			Q92752	TENR_HUMAN	tenascin R	289	Cys-rich.|EGF-like 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)					CAGTCCTCACCAACGTAGCCC	0.622																																					p.G289C		.											.	TNR-324	0			c.G865T						.						127.0	85.0	99.0					1																	175372387		2203	4300	6503	SO:0001583	missense	7143	exon4			CCTCACCAACGTA	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.865G>T	1.37:g.175372387C>A	ENSP00000356646:p.Gly289Cys	282	2		377	145	NM_003285	0	0	0	0	0	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358315	0.82243	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.25749	1.78;1.78	6.04	6.04	0.98038	EGF-like region, conserved site (2);	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	H	0.99935	4.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.987	D	0.87097	0.2176	10	0.87932	D	0	.	20.1743	0.98175	0.0:1.0:0.0:0.0	.	289;289	B4DIX8;Q92752	.;TENR_HUMAN	C	289	ENSP00000356646:G289C;ENSP00000263525:G289C	ENSP00000263525:G289C	G	-	1	0	TNR	173639010	1.000000	0.71417	0.256000	0.24389	0.548000	0.35241	5.931000	0.70113	2.873000	0.98535	0.561000	0.74099	GGT	.		0.622	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
PAPPA2	60676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	176526124	176526124	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:176526124G>T	ENST00000367662.3	+	2	1830	c.666G>T	c.(664-666)tgG>tgT	p.W222C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.W222C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	222					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCAACCTTGGCCCAAGCATT	0.562																																					p.W222C		.											.	PAPPA2-548	0			c.G666T						.						90.0	93.0	92.0					1																	176526124		1965	4150	6115	SO:0001583	missense	60676	exon2			ACCTTGGCCCAAG	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.666G>T	1.37:g.176526124G>T	ENSP00000356634:p.Trp222Cys	146	0		215	62	NM_020318	0	0	0	0	0	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997189	0.35226	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.32023	4.72;1.47	3.28	2.3	0.28687	Concanavalin A-like lectin/glucanase (1);	0.481226	0.15990	U	0.234878	T	0.31638	0.0803	M	0.65975	2.015	0.09310	N	0.999995	P;D	0.54047	0.875;0.964	B;B	0.43783	0.253;0.431	T	0.14839	-1.0458	10	0.51188	T	0.08	.	7.9237	0.29861	0.0:0.0:0.7532:0.2468	.	222;222	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	C	222	ENSP00000356634:W222C;ENSP00000356633:W222C	ENSP00000356633:W222C	W	+	3	0	PAPPA2	174792747	0.297000	0.24408	0.002000	0.10522	0.555000	0.35460	1.887000	0.39698	0.626000	0.30322	0.313000	0.20887	TGG	.		0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
PAPPA2	60676	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	176564188	176564188	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:176564188G>T	ENST00000367662.3	+	3	2612	c.1448G>T	c.(1447-1449)gGc>gTc	p.G483V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G483V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	483	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTTCTCCAGGGCTTTGAGCCA	0.522																																					p.G483V		.											.	PAPPA2-548	0			c.G1448T						.						75.0	77.0	76.0					1																	176564188		1971	4161	6132	SO:0001583	missense	60676	exon3			TCCAGGGCTTTGA	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1448G>T	1.37:g.176564188G>T	ENSP00000356634:p.Gly483Val	126	1		196	80	NM_020318	0	0	0	0	0	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	3.911	-0.019980	0.07634	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.30714	4.76;1.52	4.65	0.223	0.15292	.	0.775342	0.12560	N	0.458263	T	0.16896	0.0406	L	0.31926	0.97	0.19575	N	0.999969	P;P	0.36086	0.536;0.454	B;B	0.27887	0.081;0.084	T	0.12066	-1.0562	10	0.51188	T	0.08	-4.8231	5.007	0.14293	0.378:0.3786:0.2434:0.0	.	483;483	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	V	483	ENSP00000356634:G483V;ENSP00000356633:G483V	ENSP00000356633:G483V	G	+	2	0	PAPPA2	174830811	0.097000	0.21791	0.642000	0.29436	0.120000	0.20174	0.168000	0.16622	0.169000	0.19679	0.650000	0.86243	GGC	.		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
PAPPA2	60676	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	176769205	176769205	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:176769205G>T	ENST00000367662.3	+	21	6303	c.5139G>T	c.(5137-5139)gtG>gtT	p.V1713V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1713	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAGCATTGTGTGCACTGGCC	0.502																																					p.V1713V		.											.	PAPPA2-548	0			c.G5139T						.						127.0	122.0	124.0					1																	176769205		1930	4138	6068	SO:0001819	synonymous_variant	60676	exon21			CATTGTGTGCACT	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5139G>T	1.37:g.176769205G>T		65	0		108	10	NM_020318	0	0	0	0	0	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																			.		0.502	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
ASTN1	460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	176845691	176845691	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:176845691C>A	ENST00000367654.3	-	21	3680	c.3469G>T	c.(3469-3471)Gat>Tat	p.D1157Y	ASTN1_ENST00000424564.2_Missense_Mutation_p.D1149Y|ASTN1_ENST00000367657.3_Missense_Mutation_p.D1149Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.D1149Y	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1157					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D1149Y(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGACATCATCCACCACGGGG	0.577																																					p.D1149Y		.											.	ASTN1-319	1	Substitution - Missense(1)	lung(1)	c.G3445T						.						151.0	114.0	126.0					1																	176845691		2203	4300	6503	SO:0001583	missense	460	exon21			CATCATCCACCAC	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3469G>T	1.37:g.176845691C>A	ENSP00000356626:p.Asp1157Tyr	209	1		296	151	NM_207108	0	0	0	0	0	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	24.5	4.533940	0.85812	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.20738	2.05;2.47;2.47;2.06	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.40079	-0.9582	10	0.87932	D	0	-21.3211	18.6437	0.91404	0.0:1.0:0.0:0.0	.	1149;1149	O14525-2;B1AJS1	.;.	Y	1149;1149;1157;1149;1149	ENSP00000356629:D1149Y;ENSP00000354536:D1149Y;ENSP00000356626:D1157Y;ENSP00000395041:D1149Y	ENSP00000354536:D1149Y	D	-	1	0	ASTN1	175112314	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.487000	0.81328	2.478000	0.83669	0.655000	0.94253	GAT	.		0.577	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
ASTN1	460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	176863813	176863813	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:176863813G>T	ENST00000367654.3	-	17	3060	c.2849C>A	c.(2848-2850)tCc>tAc	p.S950Y	ASTN1_ENST00000424564.2_Missense_Mutation_p.S942Y|ASTN1_ENST00000367657.3_Missense_Mutation_p.S942Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.S942Y	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	950					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGGGGGCAGGACGAGGGGCA	0.592																																					p.S942Y		.											.	ASTN1-319	0			c.C2825A						.						94.0	93.0	93.0					1																	176863813		2203	4300	6503	SO:0001583	missense	460	exon17			GGGCAGGACGAGG	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2849C>A	1.37:g.176863813G>T	ENSP00000356626:p.Ser950Tyr	92	0		137	40	NM_207108	0	0	0	0	0	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959316	0.53400	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.26	5.26	0.73747	.	0.048867	0.85682	D	0.000000	T	0.21022	0.0506	N	0.17082	0.46	0.58432	D	0.999999	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.03025	-1.1081	10	0.49607	T	0.09	-27.2779	13.7699	0.63018	0.0:0.0:0.8463:0.1537	.	942;942	O14525-2;B1AJS1	.;.	Y	942;942;950;942;942	ENSP00000356629:S942Y;ENSP00000354536:S942Y;ENSP00000356626:S950Y;ENSP00000395041:S942Y	ENSP00000354536:S942Y	S	-	2	0	ASTN1	175130436	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	6.974000	0.76122	2.640000	0.89533	0.655000	0.94253	TCC	.		0.592	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
TOR3A	64222	hgsc.bcm.edu	37	1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	rs2296377	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2.0	3.0	3.0		37	-0.8	0.0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	0	0		15	15	NM_022371	0	0	0	0	0	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
TDRD5	163589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	179620086	179620086	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:179620086G>A	ENST00000367614.1	+	12	2244	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	TDRD5_ENST00000294848.8_Missense_Mutation_p.D629N|TDRD5_ENST00000444136.1_Missense_Mutation_p.D629N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	629					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGAATATGTAGATGGAATCCT	0.413																																					p.D629N		.											.	TDRD5-94	0			c.G1885A						.						203.0	190.0	194.0					1																	179620086		2203	4300	6503	SO:0001583	missense	163589	exon12			TATGTAGATGGAA	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1885G>A	1.37:g.179620086G>A	ENSP00000356586:p.Asp629Asn	165	0		340	91	NM_001199091	0	0	0	0	0	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174520	0.57692	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.34275	2.59;2.59;2.77;1.37	5.91	5.91	0.95273	.	0.169864	0.51477	D	0.000083	T	0.34308	0.0893	L	0.46157	1.445	0.38931	D	0.957955	P;P	0.46859	0.885;0.671	P;B	0.44447	0.45;0.145	T	0.08700	-1.0709	10	0.28530	T	0.3	-9.1251	11.2155	0.48823	0.0828:0.0:0.9172:0.0	.	629;629	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	N	629;629;629;85	ENSP00000356586:D629N;ENSP00000294848:D629N;ENSP00000406052:D629N;ENSP00000410744:D85N	ENSP00000294848:D629N	D	+	1	0	TDRD5	177886709	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.899000	0.48679	2.793000	0.96121	0.655000	0.94253	GAT	.		0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
LHX4	89884	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	180240552	180240552	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:180240552C>A	ENST00000263726.2	+	4	733	c.489C>A	c.(487-489)acC>acA	p.T163T	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	163					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CCCGGACCACCATCACAGCCA	0.592																																					p.T163T		.											.	LHX4-91	0			c.C489A						.						106.0	109.0	108.0					1																	180240552		2203	4300	6503	SO:0001819	synonymous_variant	89884	exon4			GACCACCATCACA	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.489C>A	1.37:g.180240552C>A		345	2		554	134	NM_033343	0	0	0	0	0	Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	37	CCDS1338.1																																																																																			.		0.592	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343	
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	181702776	181702776	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:181702776C>A	ENST00000367573.2	+	21	3152	c.3152C>A	c.(3151-3153)cCt>cAt	p.P1051H	CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1032H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1051H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1002H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P983H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P658H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.P1032H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1051					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGAGCGAGCCTGACCTCTCC	0.652																																					p.P1051H		.											.	CACNA1E-95	0			c.C3152A						.						47.0	56.0	53.0					1																	181702776		2198	4289	6487	SO:0001583	missense	777	exon21			GCGAGCCTGACCT	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3152C>A	1.37:g.181702776C>A	ENSP00000356545:p.Pro1051His	531	1		973	256	NM_000721	0	0	0	0	0	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331683	0.81690	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96365	-3.92;-3.92;-3.92;-3.92;-3.99;-3.92;-3.92	4.99	4.99	0.66335	.	3.571280	0.00166	N	0.000007	D	0.96611	0.8894	N	0.08118	0	0.54753	D	0.999988	D;D;D	0.89917	1.0;0.989;1.0	D;P;D	0.83275	0.996;0.85;0.996	D	0.88078	0.2805	10	0.56958	D	0.05	.	17.8471	0.88733	0.0:1.0:0.0:0.0	.	1032;1051;1051	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	1051;1032;1002;983;658;1032;1051	ENSP00000356542:P1051H;ENSP00000434814:P1032H;ENSP00000350183:P1002H;ENSP00000351101:P983H;ENSP00000356539:P658H;ENSP00000353222:P1032H;ENSP00000356545:P1051H	ENSP00000350183:P1002H	P	+	2	0	CACNA1E	179969399	1.000000	0.71417	0.775000	0.31657	0.897000	0.52465	5.770000	0.68873	2.313000	0.78055	0.561000	0.74099	CCT	.		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	181767816	181767817	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:181767816_181767817CC>AA	ENST00000367573.2	+	48	6788_6789	c.6788_6789CC>AA	c.(6787-6789)tCC>tAA	p.S2263*	CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.S2244*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.S2220*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.S2214*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.S2152*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.S1827*|CACNA1E_ENST00000526775.1_Nonsense_Mutation_p.S2201*	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2263					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGGGCCGTTCCAACACCATCG	0.663																																					p.S2263Y|p.S2263S		.											.	CACNA1E-95	0			c.C6788A|c.C6789A						.																																			SO:0001587	stop_gained	777	exon48			GCCGTTCCAACAC|CCGTTCCAACACC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	Exception_encountered	1.37:g.181767816_181767817delinsAA	ENSP00000356545:p.Ser2263*	117|114	0		217	21	NM_001205293	0	0	0	0	0	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation|Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																			.		0.663	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
ZNF648	127665	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	182027141	182027141	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:182027141G>T	ENST00000339948.3	-	2	212	c.5C>A	c.(4-6)gCa>gAa	p.A2E		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	2					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(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GTCCACTTGTGCCATGATGTT	0.507																																					p.A2E	NSCLC(71;908 1374 5429 20458 35642)	.											.	ZNF648-91	0			c.C5A						.						64.0	53.0	57.0					1																	182027141		2200	4298	6498	SO:0001583	missense	127665	exon2			ACTTGTGCCATGA	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.5C>A	1.37:g.182027141G>T	ENSP00000344129:p.Ala2Glu	164	1		280	100	NM_001009992	0	0	0	0	0	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856904	0.51376	.	.	ENSG00000179930	ENST00000339948	T	0.11063	2.81	2.66	2.66	0.31614	.	.	.	.	.	T	0.06917	0.0176	N	0.24115	0.695	0.26997	N	0.964996	P	0.37781	0.608	B	0.33568	0.166	T	0.20505	-1.0273	9	0.72032	D	0.01	.	6.9485	0.24532	0.0:0.0:0.7269:0.273	.	2	Q5T619	ZN648_HUMAN	E	2	ENSP00000344129:A2E	ENSP00000344129:A2E	A	-	2	0	ZNF648	180293764	0.003000	0.15002	0.796000	0.32109	0.599000	0.36880	1.296000	0.33389	1.814000	0.52955	0.655000	0.94253	GCA	.		0.507	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597	
RGSL1	353299	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	182500036	182500036	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:182500036delG	ENST00000294854.8	+	13	2375	c.2355delG	c.(2353-2355)cagfs	p.Q785fs	RGSL1_ENST00000456971.2_Intron|RGSL1_ENST00000542961.1_Frame_Shift_Del_p.Q820fs	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	785					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						CTTACCTACAGGAATCCCAGG	0.428																																					p.Q785fs	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	.											.	RGSL1-226	0			c.2355delG						.						87.0	78.0	80.0					1																	182500036		692	1591	2283	SO:0001589	frameshift_variant	353299	exon13			CCTACAGGAATCC	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.2355delG	1.37:g.182500036delG	ENSP00000457748:p.Gln785fs	53	0		97	45	NM_001137669	0	0	0	0	0	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Frame_Shift_Del	DEL	ENST00000294854.8	37	CCDS58049.1																																																																																			.		0.428	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	
RGSL1	353299	hgsc.bcm.edu	37	1	182500036	182500037	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:182500036_182500037delGG	ENST00000294854.8	+	13	2375_2376	c.2355_2356delGG	c.(2353-2358)caggaafs	p.E786fs	RGSL1_ENST00000456971.2_Intron|RGSL1_ENST00000542961.1_Frame_Shift_Del_p.E821fs	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	786					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						CTTACCTACAGGAATCCCAGGT	0.426																																					p.785_786del	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	.											.	RGSL1-226	0			c.2355_2356del						.																																			SO:0001589	frameshift_variant	353299	exon13			CCTACAGGAATCC	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.2355_2356delGG	1.37:g.182500036_182500037delGG	ENSP00000457748:p.Glu786fs	53	0		97	0	NM_001137669	0	0	0	0	0	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Frame_Shift_Del	DEL	ENST00000294854.8	37	CCDS58049.1																																																																																			.		0.426	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	
RGSL1	353299	bcgsc.ca	37	1	182500037	182500037	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:182500037G>A	ENST00000294854.8	+	13	2376	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	RGSL1_ENST00000456971.2_Intron|RGSL1_ENST00000542961.1_Missense_Mutation_p.E821K	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	786					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						TTACCTACAGGAATCCCAGGT	0.428																																					p.E786K	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	.											.	RGSL1-226	0			c.G2356A						.						86.0	77.0	80.0					1																	182500037		692	1591	2283	SO:0001583	missense	353299	exon13			CTACAGGAATCCC	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.2356G>A	1.37:g.182500037G>A	ENSP00000457748:p.Glu786Lys	51	0		95	45	NM_001137669	0	0	0	0	0	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Missense_Mutation	SNP	ENST00000294854.8	37	CCDS58049.1																																																																																			.		0.428	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	
LAMC2	3918	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	183195953	183195953	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:183195953G>T	ENST00000264144.4	+	9	1252	c.1187G>T	c.(1186-1188)tGt>tTt	p.C396F	LAMC2_ENST00000493293.1_Missense_Mutation_p.C396F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	396	Laminin EGF-like 4; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGCCAGGATTGTGCTTCTGGC	0.552																																					p.C396F		.											.	LAMC2-93	0			c.G1187T						.						197.0	206.0	203.0					1																	183195953		2203	4300	6503	SO:0001583	missense	3918	exon9			AGGATTGTGCTTC	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1187G>T	1.37:g.183195953G>T	ENSP00000264144:p.Cys396Phe	163	0		217	17	NM_005562	0	0	0	0	0	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517399	0.85495	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	D;D	0.97811	-4.55;-4.55	5.39	5.39	0.77823	EGF-like, laminin (2);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.99505	1.0954	10	0.87932	D	0	.	19.1486	0.93479	0.0:0.0:1.0:0.0	.	396;396;396	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	F	396	ENSP00000432063:C396F;ENSP00000264144:C396F	ENSP00000264144:C396F	C	+	2	0	LAMC2	181462576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.045000	0.93812	2.512000	0.84698	0.549000	0.68633	TGT	.		0.552	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
COLGALT2	23127	bcgsc.ca	37	1	183923927	183923927	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:183923927G>T	ENST00000361927.4	-	7	1369	c.998C>A	c.(997-999)cCt>cAt	p.P333H	COLGALT2_ENST00000367520.3_Missense_Mutation_p.P70H|COLGALT2_ENST00000546159.1_Missense_Mutation_p.P333H	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	333					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TGGATATTTAGGGACAACTGA	0.453																																					p.P333H		.											.	.	0			c.C998A						.						165.0	134.0	145.0					1																	183923927		2203	4300	6503	SO:0001583	missense	23127	exon7			TATTTAGGGACAA	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.998C>A	1.37:g.183923927G>T	ENSP00000354960:p.Pro333His	503	5		805	191	NM_015101	0	0	0	0	0	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608448	0.46527	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367520	T;T	0.78246	-1.16;-1.16	4.84	4.84	0.62591	.	0.114890	0.64402	D	0.000013	D	0.83036	0.5167	M	0.77313	2.365	0.80722	D	1	D;P;P	0.54397	0.966;0.835;0.904	P;B;P	0.53809	0.735;0.416;0.608	T	0.82851	-0.0253	10	0.36615	T	0.2	.	12.8169	0.57671	0.0:0.0:0.8358:0.1642	.	333;333;70	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	H	333;333;70	ENSP00000439112:P333H;ENSP00000354960:P333H	ENSP00000354960:P333H	P	-	2	0	GLT25D2	182190550	0.996000	0.38824	0.998000	0.56505	0.711000	0.40976	2.961000	0.49168	2.377000	0.81083	0.462000	0.41574	CCT	.		0.453	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	
TRMT1L	81627	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	185112534	185112534	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:185112534C>T	ENST00000367506.5	-	7	1082	c.814G>A	c.(814-816)Gag>Aag	p.E272K	TRMT1L_ENST00000367504.3_Missense_Mutation_p.E116K	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	272	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTTCGTTCCTCAGCCAAAGCA	0.353																																					p.E272K		.											.	TRMT1L-92	0			c.G814A						.						89.0	98.0	95.0					1																	185112534		2203	4300	6503	SO:0001583	missense	81627	exon7			GTTCCTCAGCCAA	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.814G>A	1.37:g.185112534C>T	ENSP00000356476:p.Glu272Lys	198	2		296	42	NM_030934	0	0	0	0	0	Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417673	0.42918	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	5.34	1.22	0.21188	.	0.273372	0.39909	N	0.001221	T	0.31009	0.0783	N	0.16656	0.425	0.34724	D	0.729088	B	0.06786	0.001	B	0.14023	0.01	T	0.25398	-1.0133	9	0.16420	T	0.52	-2.257	9.8971	0.41324	0.0:0.7178:0.0:0.2822	.	272	Q7Z2T5	TRM1L_HUMAN	K	116;272	.	ENSP00000356474:E116K	E	-	1	0	TRMT1L	183379157	0.931000	0.31567	0.996000	0.52242	0.995000	0.86356	0.817000	0.27281	-0.032000	0.13758	0.591000	0.81541	GAG	.		0.353	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934	
PLA2G4A	5321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	186880385	186880385	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:186880385G>T	ENST00000367466.3	+	7	574	c.422G>T	c.(421-423)tGc>tTc	p.C141F	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	141	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TACAGCTCATGCCCAGACCTA	0.463																																					p.C141F		.											.	PLA2G4A-721	0			c.G422T						.						172.0	177.0	175.0					1																	186880385		2203	4300	6503	SO:0001583	missense	5321	exon7			GCTCATGCCCAGA	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.422G>T	1.37:g.186880385G>T	ENSP00000356436:p.Cys141Phe	116	0		186	63	NM_024420	0	0	0	0	0	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202734	0.38905	.	.	ENSG00000116711	ENST00000367466	T	0.01484	4.84	5.24	4.33	0.51752	Lysophospholipase, catalytic domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.430072	0.29362	N	0.012367	T	0.01421	0.0046	N	0.08118	0	0.80722	D	1	B	0.13594	0.008	B	0.18561	0.022	T	0.60203	-0.7309	10	0.56958	D	0.05	-1.1136	11.7293	0.51726	0.0:0.6938:0.3062:0.0	.	141	P47712	PA24A_HUMAN	F	141	ENSP00000356436:C141F	ENSP00000356436:C141F	C	+	2	0	PLA2G4A	185147008	0.990000	0.36364	0.992000	0.48379	0.994000	0.84299	2.222000	0.42926	1.209000	0.43321	0.650000	0.86243	TGC	.		0.463	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
BRINP3	339479	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	190067548	190067548	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:190067548delT	ENST00000367462.3	-	8	2132	c.1901delA	c.(1900-1902)aagfs	p.K634fs	BRINP3_ENST00000534846.1_Frame_Shift_Del_p.K532fs	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	634					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.K634R(1)									ACCATTGGACTTGATGCGACT	0.418																																					p.K634fs		.											.	FAM5C-228	1	Substitution - Missense(1)	large_intestine(1)	c.1901delA						.						197.0	207.0	203.0					1																	190067548		2203	4300	6503	SO:0001589	frameshift_variant	339479	exon8			TTGGACTTGATGC	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1901delA	1.37:g.190067548delT	ENSP00000356432:p.Lys634fs	134	0		161	87	NM_199051	0	0	0	0	0	B3KVP1|B7Z260|O95726|Q2M330	Frame_Shift_Del	DEL	ENST00000367462.3	37	CCDS1373.1																																																																																			.		0.418	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
BRINP3	339479	hgsc.bcm.edu	37	1	190067549	190067550	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:190067549_190067550delTG	ENST00000367462.3	-	8	2130_2131	c.1899_1900delCA	c.(1897-1902)atcaagfs	p.K634fs	BRINP3_ENST00000534846.1_Frame_Shift_Del_p.K532fs	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	634					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CCATTGGACTTGATGCGACTTC	0.421																																					p.633_634del		.											.	FAM5C-228	0			c.1899_1900del						.																																			SO:0001589	frameshift_variant	339479	exon8			TGGACTTGATGCG	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1899_1900delCA	1.37:g.190067549_190067550delTG	ENSP00000356432:p.Lys634fs	131	0		158	0	NM_199051	0	0	0	0	0	B3KVP1|B7Z260|O95726|Q2M330	Frame_Shift_Del	DEL	ENST00000367462.3	37	CCDS1373.1																																																																																			.		0.421	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
BRINP3	339479	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	1	190067550	190067550	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:190067550G>A	ENST00000367462.3	-	8	2130	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	BRINP3_ENST00000534846.1_Silent_p.I531I	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	633					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CATTGGACTTGATGCGACTTC	0.423																																					p.I633I		.											.	FAM5C-228	0			c.C1899T						.						203.0	212.0	209.0					1																	190067550		2203	4300	6503	SO:0001819	synonymous_variant	339479	exon8			GGACTTGATGCGA	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1899C>T	1.37:g.190067550G>A		130	0		155	88	NM_199051	0	0	0	0	0	B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	CCDS1373.1																																																																																			.		0.423	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
RGS18	64407	bcgsc.ca	37	1	192127869	192127869	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:192127869C>A	ENST00000367460.3	+	1	283	c.102C>A	c.(100-102)agC>agA	p.S34R	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	34					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGAAACAAGCAAAGAAGCCA	0.284																																					p.S34R		.											.	RGS18-229	0			c.C102A						.						48.0	52.0	51.0					1																	192127869		2202	4288	6490	SO:0001583	missense	64407	exon1			AACAAGCAAAGAA	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.102C>A	1.37:g.192127869C>A	ENSP00000356430:p.Ser34Arg	234	4		271	105	NM_130782	0	0	0	0	0	B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135518	0.37728	.	.	ENSG00000150681	ENST00000367460	T	0.50277	0.75	6.06	5.16	0.70880	.	0.411720	0.35466	N	0.003188	T	0.40522	0.1120	L	0.46157	1.445	0.40174	D	0.977214	P	0.50066	0.931	B	0.44224	0.444	T	0.26608	-1.0098	10	0.20046	T	0.44	.	9.258	0.37595	0.0:0.8383:0.0:0.1617	.	34	Q9NS28	RGS18_HUMAN	R	34	ENSP00000356430:S34R	ENSP00000356430:S34R	S	+	3	2	RGS18	190394492	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.612000	0.24283	1.579000	0.49836	0.650000	0.86243	AGC	.		0.284	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782	
RGS18	64407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	192127877	192127877	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:192127877C>A	ENST00000367460.3	+	1	291	c.110C>A	c.(109-111)gCc>gAc	p.A37D	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	37					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAAAGAAGCCAAAATCAGG	0.284																																					p.A37D		.											.	RGS18-229	0			c.C110A						.						48.0	52.0	50.0					1																	192127877		2202	4287	6489	SO:0001583	missense	64407	exon1			AAGAAGCCAAAAT	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.110C>A	1.37:g.192127877C>A	ENSP00000356430:p.Ala37Asp	230	0		259	60	NM_130782	0	0	0	0	0	B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826437	0.32329	.	.	ENSG00000150681	ENST00000367460	T	0.50001	0.76	6.06	0.193	0.15139	.	0.851416	0.10732	N	0.640516	T	0.33469	0.0864	L	0.51422	1.61	0.29344	N	0.865829	B	0.10296	0.003	B	0.08055	0.003	T	0.29058	-1.0024	10	0.20046	T	0.44	.	2.3317	0.04237	0.3556:0.3779:0.1161:0.1503	.	37	Q9NS28	RGS18_HUMAN	D	37	ENSP00000356430:A37D	ENSP00000356430:A37D	A	+	2	0	RGS18	190394500	0.388000	0.25197	0.998000	0.56505	0.991000	0.79684	-0.362000	0.07602	0.118000	0.18165	-0.175000	0.13238	GCC	.		0.284	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782	
RGS18	64407	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	192153625	192153625	+	Missense_Mutation	SNP	C	C	A	rs200020460		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:192153625C>A	ENST00000367460.3	+	5	830	c.649C>A	c.(649-651)Cgc>Agc	p.R217S		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	217					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGACGATCACGCTCATTTAC	0.348																																					p.R217S		.											.	RGS18-229	0			c.C649A						.						97.0	89.0	92.0					1																	192153625		2203	4299	6502	SO:0001583	missense	64407	exon5			CGATCACGCTCAT	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.649C>A	1.37:g.192153625C>A	ENSP00000356430:p.Arg217Ser	243	1		250	90	NM_130782	0	0	0	0	0	B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517548	0.85495	.	.	ENSG00000150681	ENST00000367460	T	0.54479	0.57	5.62	4.7	0.59300	.	0.094103	0.85682	D	0.000000	T	0.52224	0.1721	L	0.36672	1.1	0.80722	D	1	D	0.58970	0.984	P	0.54372	0.75	T	0.38866	-0.9641	10	0.25751	T	0.34	.	12.0324	0.53406	0.0:0.9177:0.0:0.0823	.	217	Q9NS28	RGS18_HUMAN	S	217	ENSP00000356430:R217S	ENSP00000356430:R217S	R	+	1	0	RGS18	190420248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.484000	0.60271	2.648000	0.89879	0.563000	0.77884	CGC	C|0.999;T|0.001		0.348	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782	
RGS1	5996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	192548286	192548286	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:192548286C>A	ENST00000367459.3	+	5	530	c.464C>A	c.(463-465)aCt>aAt	p.T155N		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	155	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GACTTCCGCACTCGAGAATCT	0.343																																					p.T155N		.											.	RGS1-226	0			c.C464A						.						79.0	84.0	82.0					1																	192548286		2203	4300	6503	SO:0001583	missense	5996	exon5			TCCGCACTCGAGA	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.464C>A	1.37:g.192548286C>A	ENSP00000356429:p.Thr155Asn	201	0		238	59	NM_002922	0	0	0	0	0	B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126065	0.77436	.	.	ENSG00000090104	ENST00000367459	T	0.02197	4.4	5.68	5.68	0.88126	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.066986	0.64402	D	0.000009	T	0.16557	0.0398	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00046	-1.2214	10	0.87932	D	0	.	13.0698	0.59055	0.0:0.9219:0.0:0.0781	.	155	Q08116	RGS1_HUMAN	N	155	ENSP00000356429:T155N	ENSP00000356429:T155N	T	+	2	0	RGS1	190814909	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	4.935000	0.63498	2.838000	0.97847	0.591000	0.81541	ACT	.		0.343	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922	
CFHR3	10878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	196749007	196749007	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:196749007G>C	ENST00000367425.4	+	3	426	c.334G>C	c.(334-336)Gtt>Ctt	p.V112L	CFHR3_ENST00000391985.3_Missense_Mutation_p.V112L|CFHR3_ENST00000471440.2_Missense_Mutation_p.V112L	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	112	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CTCTACAGAAGTTGCCTGCCA	0.413																																					p.V112L		.											.	CFHR3-90	0			c.G334C						.						64.0	67.0	66.0					1																	196749007		1888	4124	6012	SO:0001583	missense	10878	exon3			ACAGAAGTTGCCT	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.334G>C	1.37:g.196749007G>C	ENSP00000356395:p.Val112Leu	414	0		618	300	NM_021023	0	0	0	0	0	B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.374132	0.42105	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.64803	0.83;0.83;-0.12	3.68	1.52	0.23074	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.75148	0.3810	M	0.81614	2.55	0.09310	N	1	D;D;D	0.76494	0.997;0.999;0.995	D;D;D	0.77557	0.962;0.985;0.99	T	0.61053	-0.7140	9	0.54805	T	0.06	.	5.7963	0.18389	0.3025:0.0:0.6975:0.0	.	112;112;112	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	L	112	ENSP00000356395:V112L;ENSP00000436258:V112L;ENSP00000375845:V112L	ENSP00000356395:V112L	V	+	1	0	CFHR3	195015630	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.161000	0.10026	0.129000	0.18514	0.405000	0.27470	GTT	.		0.413	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023	
CFHR2	3080	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	196920020	196920020	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:196920020G>C	ENST00000367415.5	+	3	392	c.292G>C	c.(292-294)Gaa>Caa	p.E98Q	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.E98Q|CFHR2_ENST00000476712.2_Intron	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	98	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TGGTCATTCTGAATCTTCAGG	0.348																																					p.E98Q		.											.	CFHR2-93	0			c.G292C						.						149.0	132.0	138.0					1																	196920020		2203	4300	6503	SO:0001583	missense	3080	exon3			CATTCTGAATCTT	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.292G>C	1.37:g.196920020G>C	ENSP00000356385:p.Glu98Gln	155	0		204	17	NM_005666	0	0	0	0	0	Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	8.425	0.847249	0.17034	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.64085	-0.08;-0.08	2.77	-3.03	0.05429	Complement control module (2);Sushi/SCR/CCP (3);	1.118210	0.07092	N	0.838887	T	0.48660	0.1512	L	0.32530	0.975	0.09310	N	1	P	0.48589	0.912	P	0.50049	0.629	T	0.42258	-0.9462	10	0.13853	T	0.58	.	0.9826	0.01439	0.1395:0.1913:0.2861:0.3831	.	98	P36980	FHR2_HUMAN	Q	98	ENSP00000356391:E98Q;ENSP00000356385:E98Q	ENSP00000356385:E98Q	E	+	1	0	CFHR2	195186643	0.000000	0.05858	0.652000	0.29579	0.002000	0.02628	-2.496000	0.00970	-0.335000	0.08451	-0.687000	0.03738	GAA	.		0.348	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666	
CFHR5	81494	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	196964954	196964954	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:196964954C>G	ENST00000256785.4	+	5	824	c.715C>G	c.(715-717)Cct>Gct	p.P239A	CFHR5_ENST00000367414.5_Missense_Mutation_p.P263A			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	239	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGATTGCAATCCTAATTTTAT	0.353																																					p.P239A		.											.	CFHR5-154	0			c.C715G						.						106.0	112.0	109.0					1																	196964954		2203	4300	6503	SO:0001583	missense	81494	exon5			TGCAATCCTAATT	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.715C>G	1.37:g.196964954C>G	ENSP00000256785:p.Pro239Ala	200	0		289	142	NM_030787	0	0	0	0	0	Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	7.810	0.715468	0.15306	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65178	-0.14;-0.14	3.36	-0.566	0.11767	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.48095	0.1481	L	0.53780	1.695	0.09310	N	1	B	0.24258	0.1	B	0.25405	0.06	T	0.36817	-0.9732	9	0.28530	T	0.3	.	0.9925	0.01460	0.2253:0.3925:0.2219:0.1603	.	239	Q9BXR6	FHR5_HUMAN	A	263;239	ENSP00000356384:P263A;ENSP00000256785:P239A	ENSP00000256785:P239A	P	+	1	0	CFHR5	195231577	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.336000	0.07863	0.014000	0.14944	0.446000	0.29264	CCT	.		0.353	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787	
ASPM	259266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	197059995	197059995	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:197059995T>A	ENST00000367409.4	-	23	9877	c.9621A>T	c.(9619-9621)ggA>ggT	p.G3207G	ASPM_ENST00000294732.7_Silent_p.G1622G|ASPM_ENST00000367408.1_Silent_p.G872G	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3207	IQ 38. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 39. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTAATGATTCCACTAGTGA	0.343																																					p.G3207G		.											.	ASPM-615	0			c.A9621T						.						74.0	74.0	74.0					1																	197059995		2203	4298	6501	SO:0001819	synonymous_variant	259266	exon23			AATGATTCCACTA	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9621A>T	1.37:g.197059995T>A		45	0		62	23	NM_018136	0	0	0	0	0	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																			.		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ASPM	259266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	197113117	197113117	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:197113117T>A	ENST00000367409.4	-	2	667	c.411A>T	c.(409-411)ctA>ctT	p.L137L	ASPM_ENST00000294732.7_Silent_p.L137L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	137					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGCATTTCCTAGTAATATAG	0.294																																					p.L137L		.											.	ASPM-615	0			c.A411T						.						63.0	59.0	60.0					1																	197113117		2203	4289	6492	SO:0001819	synonymous_variant	259266	exon2			ATTTCCTAGTAAT	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.411A>T	1.37:g.197113117T>A		114	0		127	44	NM_001206846	0	0	0	0	0	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																			.		0.294	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
KIF21B	23046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	200943940	200943940	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:200943940C>A	ENST00000422435.2	-	34	5032	c.4716G>T	c.(4714-4716)tgG>tgT	p.W1572C	KIF21B_ENST00000360529.5_Missense_Mutation_p.W1559C|KIF21B_ENST00000332129.2_Missense_Mutation_p.W1559C|KIF21B_ENST00000461742.2_Missense_Mutation_p.W1572C	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1572					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGTCCACGTTCCAGACCTTGA	0.597																																					p.W1572C		.											.	KIF21B-96	0			c.G4716T						.						254.0	214.0	227.0					1																	200943940		2203	4300	6503	SO:0001583	missense	23046	exon34			CACGTTCCAGACC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4716G>T	1.37:g.200943940C>A	ENSP00000411831:p.Trp1572Cys	186	0		379	94	NM_001252102	0	0	0	0	0	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486600	0.84854	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.57	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	H	0.98629	4.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.97338	0.9955	10	0.87932	D	0	.	17.3635	0.87357	0.0:1.0:0.0:0.0	.	1559;1572;1572;1559	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	1559;1559;1572;1572;1572	ENSP00000328494:W1559C;ENSP00000353724:W1559C;ENSP00000433808:W1572C;ENSP00000411831:W1572C	ENSP00000328494:W1559C	W	-	3	0	KIF21B	199210563	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.670000	0.83925	2.072000	0.62099	0.561000	0.74099	TGG	.		0.597	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
KIF21B	23046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	200971454	200971454	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:200971454C>A	ENST00000422435.2	-	9	1553	c.1237G>T	c.(1237-1239)Ggc>Tgc	p.G413C	KIF21B_ENST00000360529.5_Missense_Mutation_p.G413C|KIF21B_ENST00000332129.2_Missense_Mutation_p.G413C|KIF21B_ENST00000461742.2_Missense_Mutation_p.G413C	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	413					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCCTCAGCGCCATCCTCTCCT	0.617																																					p.G413C		.											.	KIF21B-96	0			c.G1237T						.						123.0	110.0	114.0					1																	200971454		2203	4300	6503	SO:0001583	missense	23046	exon9			CAGCGCCATCCTC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1237G>T	1.37:g.200971454C>A	ENSP00000411831:p.Gly413Cys	132	0		193	53	NM_017596	0	0	0	0	0	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	c	16.36	3.101136	0.56183	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.73681	-0.42;-0.73;-0.77;-0.46	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.87313	0.6146	M	0.86343	2.81	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.936;0.936;1.0;0.971	D	0.88781	0.3271	10	0.87932	D	0	.	13.2952	0.60292	0.0:0.9278:0.0:0.0722	.	413;413;413;413	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	413	ENSP00000328494:G413C;ENSP00000353724:G413C;ENSP00000433808:G413C;ENSP00000411831:G413C	ENSP00000328494:G413C	G	-	1	0	KIF21B	199238077	1.000000	0.71417	0.810000	0.32431	0.062000	0.15995	6.052000	0.71080	2.750000	0.94351	0.558000	0.71614	GGC	.		0.617	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
CACNA1S	779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	201047167	201047167	+	Missense_Mutation	SNP	C	C	A	rs9333651		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:201047167C>A	ENST00000362061.3	-	11	1685	c.1459G>T	c.(1459-1461)Ggc>Tgc	p.G487C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G487C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	487					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCGCAGGCCCAGCCCGTAC	0.577																																					p.G487C		.											.	CACNA1S-94	0			c.G1459T						.						145.0	127.0	133.0					1																	201047167		2203	4300	6503	SO:0001583	missense	779	exon11			GCAGGCCCAGCCC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1459G>T	1.37:g.201047167C>A	ENSP00000355192:p.Gly487Cys	369	0		625	338	NM_000069	0	0	0	0	0	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762401	0.89932	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98012	-4.66;-4.66	4.78	4.78	0.61160	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98619	1.0666	10	0.87932	D	0	.	18.141	0.89639	0.0:1.0:0.0:0.0	.	487	Q13698	CAC1S_HUMAN	C	487	ENSP00000355192:G487C;ENSP00000356307:G487C	ENSP00000355192:G487C	G	-	1	0	CACNA1S	199313790	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.795000	0.85887	2.351000	0.79841	0.643000	0.83706	GGC	.		0.577	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
IGFN1	91156	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	201181975	201181975	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:201181975G>T	ENST00000335211.4	+	12	8084	c.7954G>T	c.(7954-7956)Ggt>Tgt	p.G2652C	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGAGCTTCCGGTTCTCTGCA	0.607																																					p.G2652C		.											.	IGFN1-71	0			c.G7954T						.						13.0	16.0	15.0					1																	201181975		692	1590	2282	SO:0001583	missense	91156	exon12			GCTTCCGGTTCTC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.7954G>T	1.37:g.201181975G>T	ENSP00000334714:p.Gly2652Cys	148	1		242	137	NM_001164586	0	0	0	0	0	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.250|9.250	1.040506|1.040506	0.19669|0.19669	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211|ENST00000412892	T|.	0.56776|.	0.44|.	2.75|2.75	-5.43|-5.43	0.02632|0.02632	.|.	.|.	.|.	.|.	.|.	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.08118|0.08118	0|0	0.19575|0.19575	N|N	0.999967|0.999967	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33904|0.33904	-0.9850|-0.9850	7|5	0.56958|.	D|.	0.05|.	.|.	10.1982|10.1982	0.43067|0.43067	0.501:0.0:0.499:0.0|0.501:0.0:0.499:0.0	.|.	.|.	.|.	.|.	C|L	2652|69	ENSP00000334714:G2652C|.	ENSP00000334714:G2652C|.	G|R	+|+	1|2	0|0	IGFN1|IGFN1	199448598|199448598	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-2.223000|-2.223000	0.01214|0.01214	-0.967000|-0.967000	0.03582|0.03582	-1.847000|-1.847000	0.00572|0.00572	GGT|CGG	.		0.607	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
KDM5B	10765	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	202715062	202715062	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:202715062C>A	ENST00000367265.3	-	16	3411	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N	KDM5B_ENST00000367264.2_Missense_Mutation_p.K785N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	749					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGCTCGAAGCTTCAATGCAT	0.408																																					p.K749N		.											.	KDM5B-273	0			c.G2247T						.						170.0	157.0	162.0					1																	202715062		2203	4300	6503	SO:0001583	missense	10765	exon16			TCGAAGCTTCAAT	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2247G>T	1.37:g.202715062C>A	ENSP00000356234:p.Lys749Asn	84	1		120	33	NM_006618	0	0	0	0	0	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299614	0.81136	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.86865	-2.06;-1.86;-2.18	5.96	2.66	0.31614	.	0.043268	0.85682	D	0.000000	D	0.91081	0.7193	M	0.75085	2.285	0.53688	D	0.999979	D;D	0.64830	0.994;0.984	P;P	0.61533	0.84;0.89	D	0.91163	0.4962	10	0.87932	D	0	-28.0794	11.4514	0.50156	0.0:0.7231:0.0:0.2769	.	785;749	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	749;591;785;591;118	ENSP00000356234:K749N;ENSP00000356233:K785N;ENSP00000235790:K591N	ENSP00000235790:K591N	K	-	3	2	KDM5B	200981685	0.920000	0.31207	1.000000	0.80357	0.998000	0.95712	0.115000	0.15540	0.855000	0.35359	0.655000	0.94253	AAG	.		0.408	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	
ADIPOR1	51094	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	202915739	202915739	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:202915739C>A	ENST00000340990.5	-	4	557		c.e4-1		ADIPOR1_ENST00000436244.1_Splice_Site|ADIPOR1_ENST00000367254.3_Splice_Site	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1						adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCTCCCAGACCTAGAACATAT	0.498																																					.		.											.	ADIPOR1-90	0			c.259-1G>T						.						146.0	110.0	122.0					1																	202915739		2203	4300	6503	SO:0001630	splice_region_variant	51094	exon5			CCAGACCTAGAAC		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.259-1G>T	1.37:g.202915739C>A		217	1		367	68	NM_015999	0	0	0	0	0	B3KMB0|Q53HS7|Q53YY6|Q9Y360	Splice_Site	SNP	ENST00000340990.5	37	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110935	0.77210	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	.	.	.	5.74	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9361	0.64026	0.0:0.9262:0.0:0.0738	.	.	.	.	.	-1	.	.	.	-	.	.	ADIPOR1	201182362	1.000000	0.71417	0.994000	0.49952	0.903000	0.53119	7.763000	0.85283	1.571000	0.49722	0.563000	0.77884	.	.		0.498	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999	Intron
PPFIA4	8497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	203028334	203028334	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203028334G>T	ENST00000447715.2	+	25	2811	c.2370G>T	c.(2368-2370)atG>atT	p.M790I	PPFIA4_ENST00000272198.6_Missense_Mutation_p.M306I|PPFIA4_ENST00000414050.2_Missense_Mutation_p.M519I|PPFIA4_ENST00000367240.2_Missense_Mutation_p.M791I|PPFIA4_ENST00000599966.1_Missense_Mutation_p.M306I|PPFIA4_ENST00000295706.4_Missense_Mutation_p.M306I			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	790					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AATTCAGTATGCAGGAGCCTA	0.592																																					p.M306I		.											.	PPFIA4-230	0			c.G918T						.						22.0	24.0	23.0					1																	203028334		1948	4135	6083	SO:0001583	missense	8497	exon7			CAGTATGCAGGAG	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2370G>T	1.37:g.203028334G>T	ENSP00000402576:p.Met790Ile	468	0		811	294	NM_015053	0	0	0	0	0	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37		.	.	.	.	.	.	.	.	.	.	G	10.03	1.237562	0.22711	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.21191	2.35;2.02;2.04;2.02;2.03	4.93	4.0	0.46444	.	1.307340	0.05687	N	0.591575	T	0.10252	0.0251	N	0.04508	-0.205	0.22280	N	0.999238	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.27806	-1.0063	10	0.25751	T	0.34	-1.3658	4.6283	0.12489	0.0756:0.1329:0.5172:0.2743	.	519;790;1;306;306	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	I	791;790;306;519;306	ENSP00000356209:M791I;ENSP00000402576:M790I;ENSP00000295706:M306I;ENSP00000400379:M519I;ENSP00000272198:M306I	ENSP00000272198:M306I	M	+	3	0	PPFIA4	201294957	0.977000	0.34250	1.000000	0.80357	0.912000	0.54170	0.084000	0.14891	1.254000	0.44035	0.462000	0.41574	ATG	.		0.592	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	
BTG2	7832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	203276418	203276418	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203276418C>T	ENST00000290551.4	+	2	400	c.329C>T	c.(328-330)tCc>tTc	p.S110F	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	110					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			TATGAGGTGTCCTACCGCATT	0.647																																					p.S110F		.											.	BTG2-651	0			c.C329T						.						52.0	54.0	53.0					1																	203276418		2203	4300	6503	SO:0001583	missense	7832	exon2			AGGTGTCCTACCG		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.329C>T	1.37:g.203276418C>T	ENSP00000290551:p.Ser110Phe	104	0		140	39	NM_006763	0	0	0	0	0	A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189518	0.78789	.	.	ENSG00000159388	ENST00000290551	T	0.34275	1.37	5.06	4.15	0.48705	Anti-proliferative protein (4);	0.000000	0.64402	D	0.000001	T	0.67674	0.2918	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75764	-0.3203	10	0.87932	D	0	-36.0903	12.1305	0.53940	0.0:0.9154:0.0:0.0846	.	110	P78543	BTG2_HUMAN	F	110	ENSP00000290551:S110F	ENSP00000290551:S110F	S	+	2	0	BTG2	201543041	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.780000	0.68956	1.140000	0.42260	0.313000	0.20887	TCC	.		0.647	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763	
PRELP	5549	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	203452438	203452438	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203452438C>A	ENST00000343110.2	+	2	253	c.126C>A	c.(124-126)ccC>ccA	p.P42P		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	42					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCCCAGGCCCACACCCAGCT	0.657																																					p.P42P		.											.	PRELP-516	0			c.C126A						.						74.0	68.0	70.0					1																	203452438		2203	4300	6503	SO:0001819	synonymous_variant	5549	exon2			CAGGCCCACACCC	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.126C>A	1.37:g.203452438C>A		140	1		245	107	NM_201348	0	0	0	0	0	Q6FG38	Silent	SNP	ENST00000343110.2	37	CCDS1438.1																																																																																			.		0.657	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725	
PRELP	5549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	203452762	203452762	+	Silent	SNP	C	C	T	rs200569548		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203452762C>T	ENST00000343110.2	+	2	577	c.450C>T	c.(448-450)ccC>ccT	p.P150P		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	150					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.P150P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAAACTGCCCGGCCTGGTGT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		17181	0.0		0.001	False		,,,				2504	0.0				p.P150P		.											.	PRELP-516	1	Substitution - coding silent(1)	lung(1)	c.C450T						.						86.0	87.0	86.0					1																	203452762		2203	4300	6503	SO:0001819	synonymous_variant	5549	exon2			ACTGCCCGGCCTG	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.450C>T	1.37:g.203452762C>T		202	0		316	106	NM_201348	0	0	0	0	0	Q6FG38	Silent	SNP	ENST00000343110.2	37	CCDS1438.1																																																																																			C|0.999;T|0.000		0.587	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725	
LAX1	54900	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	203743202	203743202	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203743202C>A	ENST00000442561.2	+	5	980	c.590C>A	c.(589-591)cCc>cAc	p.P197H	LAX1_ENST00000367217.5_Missense_Mutation_p.P181H|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	197					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCAATGTCCCCACAGCAGAA	0.483																																					p.P197H		.											.	LAX1-514	0			c.C590A						.						92.0	87.0	89.0					1																	203743202		2203	4300	6503	SO:0001583	missense	54900	exon5			ATGTCCCCACAGC	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.590C>A	1.37:g.203743202C>A	ENSP00000406970:p.Pro197His	99	0		196	66	NM_017773	0	0	0	0	0	B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365263	0.61513	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.3	5.3	0.74995	.	0.107337	0.42294	D	0.000737	T	0.65491	0.2696	L	0.61218	1.895	0.29706	N	0.839746	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.65479	-0.6158	9	0.87932	D	0	-10.846	14.4854	0.67614	0.0:1.0:0.0:0.0	.	181;197	B7Z744;Q8IWV1	.;LAX1_HUMAN	H	197;181	.	ENSP00000356186:P181H	P	+	2	0	LAX1	202009825	0.391000	0.25221	0.544000	0.28141	0.669000	0.39330	3.544000	0.53640	2.469000	0.83416	0.655000	0.94253	CCC	.		0.483	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773	
ZC3H11A	9877	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	203807096	203807096	+	Missense_Mutation	SNP	G	G	T	rs571981678		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:203807096G>T	ENST00000545588.1	+	10	4704	c.877G>T	c.(877-879)Ggt>Tgt	p.G293C	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.G293C|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.G293C|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.G293C|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.G293C	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	293					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTTATAGGCGGTGACAGTGA	0.393																																					p.G293C		.											.	ZC3H11A-515	0			c.G877T						.						71.0	69.0	70.0					1																	203807096		2203	4300	6503	SO:0001583	missense	9877	exon13			ATAGGCGGTGACA		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.877G>T	1.37:g.203807096G>T	ENSP00000438527:p.Gly293Cys	190	0		246	115	NM_014827	0	0	0	0	0	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012643	0.54468	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.75	1.79	0.24919	.	0.465787	0.25250	N	0.032038	T	0.54208	0.1844	M	0.61703	1.905	0.80722	D	1	D	0.56521	0.976	P	0.57057	0.812	T	0.50101	-0.8867	10	0.59425	D	0.04	-8.3323	7.0349	0.24987	0.2184:0.0:0.6572:0.1244	.	293	O75152	ZC11A_HUMAN	C	293;293;239;293;293;293;293	ENSP00000356183:G293C;ENSP00000356181:G293C;ENSP00000333253:G293C;ENSP00000438527:G293C;ENSP00000356179:G293C	ENSP00000333253:G293C	G	+	1	0	ZC3H11A	202073719	1.000000	0.71417	0.978000	0.43139	0.638000	0.38207	1.671000	0.37513	-0.038000	0.13624	-0.813000	0.03139	GGT	.		0.393	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827	
NFASC	23114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	204937426	204937426	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:204937426C>A	ENST00000401399.1	+	8	955	c.756C>A	c.(754-756)acC>acA	p.T252T	NFASC_ENST00000367170.4_Silent_p.T252T|NFASC_ENST00000403080.1_Silent_p.T252T|NFASC_ENST00000539706.1_Silent_p.T263T|NFASC_ENST00000404907.1_Silent_p.T263T|NFASC_ENST00000338515.6_Silent_p.T252T|NFASC_ENST00000360049.4_Silent_p.T263T|NFASC_ENST00000367171.4_Silent_p.T252T|NFASC_ENST00000513543.1_Silent_p.T263T|NFASC_ENST00000338586.6_Silent_p.T252T|NFASC_ENST00000367172.4_Silent_p.T252T|NFASC_ENST00000339876.6_Silent_p.T252T|NFASC_ENST00000404076.1_Silent_p.T246T|NFASC_ENST00000367169.4_Silent_p.T252T			O94856	NFASC_HUMAN	neurofascin	252	Ig-like C2-type 3.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCAGGGCACCGCGAGCAGCC	0.587																																					p.T263T		.											.	NFASC-139	0			c.C789A						.						128.0	111.0	117.0					1																	204937426		2203	4300	6503	SO:0001819	synonymous_variant	23114	exon9			GGGCACCGCGAGC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.756C>A	1.37:g.204937426C>A		136	0		226	98	NM_001160332	0	0	0	0	0	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	6.722	0.501980	0.12822	.	.	ENSG00000163531	ENST00000367173	.	.	.	5.3	-10.6	0.00265	.	.	.	.	.	T	0.20047	0.0482	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.21415	-1.0246	4	.	.	.	.	4.2711	0.10787	0.2008:0.3527:0.3274:0.119	.	.	.	.	Q	222	.	.	P	+	2	0	NFASC	203204049	0.000000	0.05858	0.001000	0.08648	0.883000	0.51084	-3.163000	0.00576	-5.833000	0.00009	-2.449000	0.00209	CCG	.		0.587	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
NFASC	23114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	204966446	204966446	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:204966446C>A	ENST00000401399.1	+	24	3130	c.2931C>A	c.(2929-2931)gtC>gtA	p.V977V	NFASC_ENST00000367170.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338515.6_Silent_p.V1084V|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367171.4_Silent_p.V1069V|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367172.4_Silent_p.V1084V|NFASC_ENST00000339876.6_Silent_p.V977V|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Intron			O94856	NFASC_HUMAN	neurofascin	1084	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ccaccaccgtcgccacaacta	0.602																																					p.V977V		.											.	NFASC-139	0			c.C2931A						.						242.0	297.0	280.0					1																	204966446		1564	3570	5134	SO:0001819	synonymous_variant	23114	exon25			CACCGTCGCCACA	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2931C>A	1.37:g.204966446C>A		338	1		477	166	NM_001005388	0	0	0	0	0	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	CCDS53460.1																																																																																			.		0.602	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
CNTN2	6900	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	205039030	205039030	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:205039030T>A	ENST00000331830.4	+	18	2556	c.2272T>A	c.(2272-2274)Tgg>Agg	p.W758R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	758	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGCACTCACTGGCAGACCGC	0.637																																					p.W758R	Melanoma(183;2548 2817 37099 41192)	.											.	CNTN2-91	0			c.T2272A						.						108.0	109.0	109.0					1																	205039030		2203	4300	6503	SO:0001583	missense	6900	exon18			ACTCACTGGCAGA	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2272T>A	1.37:g.205039030T>A	ENSP00000330633:p.Trp758Arg	258	2		549	66	NM_005076	0	0	0	0	0	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320992	0.81580	.	.	ENSG00000184144	ENST00000331830	T	0.56103	0.48	5.07	5.07	0.68467	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000115	T	0.74966	0.3786	M	0.85041	2.73	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80077	-0.1533	10	0.87932	D	0	.	14.4867	0.67622	0.0:0.0:0.0:1.0	.	758;649	Q02246;Q68DA2	CNTN2_HUMAN;.	R	758	ENSP00000330633:W758R	ENSP00000330633:W758R	W	+	1	0	CNTN2	203305653	1.000000	0.71417	0.983000	0.44433	0.979000	0.70002	7.939000	0.87685	1.908000	0.55244	0.383000	0.25322	TGG	.		0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
RASSF5	83593	hgsc.bcm.edu	37	1	206681002	206681002	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:206681002C>T	ENST00000355294.4	+	1	124	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	RASSF5_ENST00000367117.3_Missense_Mutation_p.R23C	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	23					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CGAGCCGCCGCGCTATCTACA	0.756																																					p.R23C	GBM(162;656 1984 11916 22872 31529)	.											.	RASSF5-660	0			c.C67T						.						2.0	3.0	3.0					1																	206681002		1488	3283	4771	SO:0001583	missense	83593	exon1			CCGCCGCGCTATC	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.67C>T	1.37:g.206681002C>T	ENSP00000347443:p.Arg23Cys	2	0		88	15	NM_182663	0	0	0	0	0	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588849	0.28357	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118	T;T;T	0.16897	2.93;2.35;2.31	3.77	2.85	0.33270	.	0.551601	0.15976	N	0.235521	T	0.11110	0.0271	N	0.19112	0.55	0.80722	D	1	B;B;B	0.19073	0.007;0.004;0.033	B;B;B	0.10450	0.003;0.001;0.005	T	0.08249	-1.0731	10	0.87932	D	0	-4.9425	8.6338	0.33935	0.0:0.8873:0.0:0.1127	.	23;23;25	Q8WWW0-3;Q8WWW0;Q59GG4	.;RASF5_HUMAN;.	C	23	ENSP00000347443:R23C;ENSP00000356084:R23C;ENSP00000342620:R23C	ENSP00000342620:R23C	R	+	1	0	RASSF5	204747625	0.995000	0.38212	0.986000	0.45419	0.008000	0.06430	3.477000	0.53151	0.905000	0.36596	0.467000	0.42956	CGC	.		0.756	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437	
FAIM3	9214	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	207087142	207087142	+	Missense_Mutation	SNP	C	C	A	rs200225589		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:207087142C>A	ENST00000367091.3	-	2	478	c.335G>T	c.(334-336)cGg>cTg	p.R112L	FAIM3_ENST00000420007.2_Missense_Mutation_p.R112L|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	112					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GGTCTTTCCCCGGTCTGTGTT	0.517																																					p.R112L		.											.	FAIM3-90	0			c.G335T						.						106.0	107.0	106.0					1																	207087142		2203	4300	6503	SO:0001583	missense	9214	exon2			TTTCCCCGGTCTG	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.335G>T	1.37:g.207087142C>A	ENSP00000356058:p.Arg112Leu	116	1		212	80	NM_001193338	0	0	0	0	0	A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	C	8.183	0.794332	0.16327	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560	T;T;T;T	0.03831	3.79;3.79;3.79;3.79	5.28	-1.18	0.09617	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.287910	0.05722	N	0.597866	T	0.03477	0.0100	N	0.25890	0.77	0.09310	N	1	B	0.20052	0.041	B	0.13407	0.009	T	0.46978	-0.9152	10	0.22706	T	0.39	-2.0063	3.8109	0.08796	0.3791:0.3772:0.0:0.2438	.	112	O60667	FAIM3_HUMAN	L	112	ENSP00000356058:R112L;ENSP00000403356:R112L;ENSP00000432936:R112L;ENSP00000437331:R112L	ENSP00000356058:R112L	R	-	2	0	FAIM3	205153765	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.120000	0.03273	-0.215000	0.10063	0.655000	0.94253	CGG	C|0.999;T|0.000		0.517	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449	
FCAMR	83953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	207139094	207139094	+	Silent	SNP	C	C	A	rs368626305		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:207139094C>A	ENST00000324852.4	-	4	753	c.279G>T	c.(277-279)tcG>tcT	p.S93S	FCAMR_ENST00000450945.2_Silent_p.S93S|FCAMR_ENST00000400962.3_Silent_p.S93S	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	48	Ig-like V-type.|Mediates immunoglobulin Fc fragment- binding. {ECO:0000250}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCAGAGGGGCGAGGAAGGCC	0.607																																					p.S93S	Ovarian(199;1883 2142 16966 44409 45154)	.											.	FCAMR-91	0			c.G279T						.						43.0	46.0	45.0					1																	207139094		1568	3582	5150	SO:0001819	synonymous_variant	83953	exon4			GAGGGGCGAGGAA	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.279G>T	1.37:g.207139094C>A		168	0		235	85	NM_032029	0	0	0	0	0	Q32M82|Q8WWV5|Q96SA2	Silent	SNP	ENST00000324852.4	37	CCDS53468.1																																																																																			.		0.607	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029	
CR2	1380	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	207649601	207649601	+	Silent	SNP	G	G	A	rs184057547	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:207649601G>A	ENST00000367058.3	+	14	2751	c.2562G>A	c.(2560-2562)ccG>ccA	p.P854P	CR2_ENST00000458541.2_Silent_p.P827P|CR2_ENST00000367057.3_Silent_p.P913P|CR2_ENST00000367059.3_Intron	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	854	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTCCACCTCCGCCTAAGACCC	0.498													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18296	0.0		0.0	False		,,,				2504	0.001				p.P913P		.											.	CR2-232	0			c.G2739A						.						142.0	126.0	132.0					1																	207649601		2203	4300	6503	SO:0001819	synonymous_variant	1380	exon15			ACCTCCGCCTAAG	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2562G>A	1.37:g.207649601G>A		177	1		274	43	NM_001006658	0	0	0	0	0	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	CCDS1478.1																																																																																			G|0.999;A|0.000		0.498	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
CR1	1378	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	207753724	207753724	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:207753724C>A	ENST00000367049.4	+	30	5076	c.5076C>A	c.(5074-5076)ccC>ccA	p.P1692P	CR1_ENST00000367051.1_Silent_p.P1242P|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Silent_p.P1242P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Silent_p.P1242P|CR1_ENST00000367053.1_Silent_p.P1242P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1242	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTGCACACCCCAGGGAGACT	0.567																																					p.P1692P		.											.	CR1-93	0			c.C5076A						.						99.0	103.0	102.0					1																	207753724		1937	4150	6087	SO:0001819	synonymous_variant	1378	exon30			CACACCCCAGGGA	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5076C>A	1.37:g.207753724C>A		160	1		285	72	NM_000651	0	0	0	0	0	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	CCDS44308.1																																																																																			.		0.567	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
PLXNA2	5362	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	208202235	208202235	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:208202235G>C	ENST00000367033.3	-	30	6135	c.5378C>G	c.(5377-5379)tCc>tGc	p.S1793C	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1793					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTTGGAGGGGGAGTCCTTGCC	0.602																																					p.S1793C		.											.	PLXNA2-92	0			c.C5378G						.						108.0	106.0	106.0					1																	208202235		2203	4300	6503	SO:0001583	missense	5362	exon30			GAGGGGGAGTCCT	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5378C>G	1.37:g.208202235G>C	ENSP00000356000:p.Ser1793Cys	197	0		333	43	NM_025179	0	0	0	0	0	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979215	0.92982	.	.	ENSG00000076356	ENST00000367033	T	0.19938	2.11	5.36	5.36	0.76844	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.71672	-0.4522	10	0.87932	D	0	.	19.1265	0.93386	0.0:0.0:1.0:0.0	.	1793;63	O75051;Q9HAE7	PLXA2_HUMAN;.	C	1793	ENSP00000356000:S1793C	ENSP00000356000:S1793C	S	-	2	0	PLXNA2	206268858	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.507000	0.97996	2.523000	0.85059	0.655000	0.94253	TCC	.		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
LAMB3	3914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	209795997	209795997	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:209795997T>C	ENST00000356082.4	-	18	2719	c.2585A>G	c.(2584-2586)cAg>cGg	p.Q862R	LAMB3_ENST00000391911.1_Missense_Mutation_p.Q862R|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000367030.3_Missense_Mutation_p.Q862R	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	862	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGATTGAATCTGTGAGGCAGA	0.587																																					p.Q862R		.											.	LAMB3-156	0			c.A2585G						.						160.0	168.0	165.0					1																	209795997		2203	4300	6503	SO:0001583	missense	3914	exon18			TGAATCTGTGAGG	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2585A>G	1.37:g.209795997T>C	ENSP00000348384:p.Gln862Arg	134	0		200	60	NM_000228	0	0	0	0	0	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186887	0.38609	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.20463	2.07;2.07;2.07	5.56	4.39	0.52855	.	0.238103	0.43579	N	0.000542	T	0.16685	0.0401	L	0.33485	1.01	0.24896	N	0.992131	B	0.11235	0.004	B	0.11329	0.006	T	0.14559	-1.0468	10	0.36615	T	0.2	.	11.4882	0.50367	0.0:0.0723:0.0:0.9277	.	862	Q13751	LAMB3_HUMAN	R	862	ENSP00000375778:Q862R;ENSP00000348384:Q862R;ENSP00000355997:Q862R	ENSP00000348384:Q862R	Q	-	2	0	LAMB3	207862620	0.998000	0.40836	0.367000	0.25926	0.008000	0.06430	1.667000	0.37471	0.908000	0.36671	0.374000	0.22700	CAG	.		0.587	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
LAMB3	3914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	209796407	209796407	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:209796407C>A	ENST00000356082.4	-	17	2610	c.2476G>T	c.(2476-2478)Ggt>Tgt	p.G826C	LAMB3_ENST00000391911.1_Missense_Mutation_p.G826C|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000367030.3_Missense_Mutation_p.G826C	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	826	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AAGGCCCCACCGGCCCTGGGA	0.652																																					p.G826C		.											.	LAMB3-156	0			c.G2476T						.						56.0	67.0	63.0					1																	209796407		2203	4300	6503	SO:0001583	missense	3914	exon17			CCCCACCGGCCCT	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2476G>T	1.37:g.209796407C>A	ENSP00000348384:p.Gly826Cys	280	1		425	208	NM_000228	0	0	0	0	0	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046899	0.36085	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.37058	1.22;1.22;1.22	5.21	2.3	0.28687	.	0.579829	0.19226	N	0.119546	T	0.36717	0.0977	L	0.60455	1.87	0.09310	N	1	D	0.55172	0.97	P	0.46685	0.524	T	0.19386	-1.0307	10	0.56958	D	0.05	.	8.1643	0.31217	0.0:0.6787:0.0:0.3213	.	826	Q13751	LAMB3_HUMAN	C	826	ENSP00000375778:G826C;ENSP00000348384:G826C;ENSP00000355997:G826C	ENSP00000348384:G826C	G	-	1	0	LAMB3	207863030	0.000000	0.05858	0.001000	0.08648	0.418000	0.31294	0.073000	0.14640	0.217000	0.20800	-0.464000	0.05259	GGT	.		0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
TRAF3IP3	80342	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	209936416	209936416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:209936416C>A	ENST00000367024.1	+	6	1071	c.555C>A	c.(553-555)taC>taA	p.Y185*	TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.Y185*|TRAF3IP3_ENST00000400959.3_Nonsense_Mutation_p.Y165*|TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.Y165*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.Y165*			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	185						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TTTCCAGTTACGGAGTTGCAG	0.403																																					p.Y185X		.											.	TRAF3IP3-291	0			c.C555A						.						108.0	109.0	108.0					1																	209936416		2203	4300	6503	SO:0001587	stop_gained	80342	exon6			CAGTTACGGAGTT		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.555C>A	1.37:g.209936416C>A	ENSP00000355991:p.Tyr185*	101	0		141	54	NM_025228	0	0	0	0	0	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Nonsense_Mutation	SNP	ENST00000367024.1	37	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	C	36	5.806975	0.96967	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	.	.	.	4.64	-2.55	0.06288	.	0.854111	0.10105	N	0.715495	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	11.9515	5.189	0.15199	0.0:0.4285:0.1781:0.3934	.	.	.	.	X	165;185;168;165;185;165	.	ENSP00000010338:Y165X	Y	+	3	2	TRAF3IP3	208003039	0.000000	0.05858	0.142000	0.22268	0.519000	0.34347	-1.953000	0.01526	-0.275000	0.09219	-0.423000	0.05987	TAC	.		0.403	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		
TRAF3IP3	80342	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	209936707	209936707	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:209936707G>A	ENST00000367024.1	+	7	1092		c.e7-1		TRAF3IP3_ENST00000367025.3_Splice_Site|TRAF3IP3_ENST00000400959.3_Splice_Site|TRAF3IP3_ENST00000010338.4_Splice_Site|TRAF3IP3_ENST00000367026.3_Splice_Site			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TTTCTCTCCAGGAAATCATCC	0.483																																					.		.											.	TRAF3IP3-291	0			c.577-1G>A						.						130.0	136.0	134.0					1																	209936707		2203	4300	6503	SO:0001630	splice_region_variant	80342	exon7			TCTCCAGGAAATC		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.577-1G>A	1.37:g.209936707G>A		147	1		226	67	NM_025228	0	0	0	0	0	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Splice_Site	SNP	ENST00000367024.1	37	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916165	0.52546	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9221	0.58239	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRAF3IP3	208003330	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.688000	0.61715	2.500000	0.84329	0.591000	0.81541	.	.		0.483	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		Intron
IRF6	3664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	209964145	209964145	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:209964145A>G	ENST00000367021.3	-	7	927	c.755T>C	c.(754-756)tTc>tCc	p.F252S	IRF6_ENST00000542854.1_Missense_Mutation_p.F157S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	252					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GTCCCCATAGAAGAGTCGGCA	0.562										HNSCC(57;0.16)																											p.F252S		.											.	IRF6-92	0			c.T755C						.						70.0	68.0	69.0					1																	209964145		2203	4300	6503	SO:0001583	missense	3664	exon7			CCATAGAAGAGTC	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.755T>C	1.37:g.209964145A>G	ENSP00000355988:p.Phe252Ser	88	0		161	46	NM_006147	0	0	0	0	0	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.224895	0.39300	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.94046	-3.34;-3.34;-3.34	6.17	3.57	0.40892	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.129098	0.64402	D	0.000001	D	0.86209	0.5878	N	0.25144	0.715	0.58432	D	0.999995	B	0.32031	0.352	B	0.31946	0.138	T	0.81293	-0.0998	9	.	.	.	.	10.3077	0.43691	0.7716:0.1099:0.0:0.1184	.	252	O14896	IRF6_HUMAN	S	252;157;252	ENSP00000355988:F252S;ENSP00000440532:F157S;ENSP00000403855:F252S	.	F	-	2	0	IRF6	208030768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.539000	0.67199	1.104000	0.41587	0.533000	0.62120	TTC	.		0.562	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	
KCNH1	3756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	210857441	210857441	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:210857441C>G	ENST00000271751.4	-	11	2179	c.2152G>C	c.(2152-2154)Gaa>Caa	p.E718Q	KCNH1_ENST00000367007.4_Missense_Mutation_p.E691Q			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	718	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATGCGTTCTTCCTCTTCACGT	0.562																																					p.E718Q		.											.	KCNH1-94	0			c.G2152C						.						71.0	65.0	67.0					1																	210857441		2203	4300	6503	SO:0001583	missense	3756	exon11			GTTCTTCCTCTTC	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2152G>C	1.37:g.210857441C>G	ENSP00000271751:p.Glu718Gln	31	0		55	9	NM_172362	0	0	0	0	0	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929350	0.73327	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	T;T	0.19105	2.17;2.17	4.49	3.57	0.40892	.	0.107195	0.64402	D	0.000006	T	0.42539	0.1207	M	0.75615	2.305	0.80722	D	1	D;D	0.63046	0.992;0.992	P;D	0.63488	0.865;0.915	T	0.39231	-0.9624	10	0.66056	D	0.02	.	12.309	0.54918	0.0:0.9167:0.0:0.0833	.	691;718	Q14CL3;O95259	.;KCNH1_HUMAN	Q	718;691	ENSP00000271751:E718Q;ENSP00000355974:E691Q	ENSP00000271751:E718Q	E	-	1	0	KCNH1	208924064	1.000000	0.71417	0.992000	0.48379	0.949000	0.60115	7.503000	0.81632	0.875000	0.35847	0.462000	0.41574	GAA	.		0.562	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
KCNH1	3756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	210971060	210971060	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:210971060C>A	ENST00000271751.4	-	9	1732	c.1705G>T	c.(1705-1707)Gtg>Ttg	p.V569L	KCNH1_ENST00000367007.4_Missense_Mutation_p.V542L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	569					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTCAGGTGCACGCAGATGTCG	0.602																																					p.V569L		.											.	KCNH1-94	0			c.G1705T						.						63.0	58.0	60.0					1																	210971060		2203	4300	6503	SO:0001583	missense	3756	exon9			GGTGCACGCAGAT	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1705G>T	1.37:g.210971060C>A	ENSP00000271751:p.Val569Leu	233	0		400	207	NM_172362	0	0	0	0	0	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509540	0.64522	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96168	-3.93;-3.93	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);	0.059788	0.64402	D	0.000002	D	0.93923	0.8055	L	0.39147	1.195	0.80722	D	1	P;B	0.47106	0.89;0.227	P;B	0.45639	0.488;0.13	D	0.92907	0.6344	10	0.30854	T	0.27	.	19.0956	0.93249	0.0:1.0:0.0:0.0	.	542;569	Q14CL3;O95259	.;KCNH1_HUMAN	L	569;542	ENSP00000271751:V569L;ENSP00000355974:V542L	ENSP00000271751:V569L	V	-	1	0	KCNH1	209037683	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	7.531000	0.81973	2.506000	0.84524	0.655000	0.94253	GTG	.		0.602	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
KCNH1	3756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	211264025	211264025	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:211264025A>T	ENST00000271751.4	-	4	345	c.318T>A	c.(316-318)ccT>ccA	p.P106P	KCNH1_ENST00000367007.4_Silent_p.P106P			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	106	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGAACCACACAGGTGTCCCTG	0.378																																					p.P106P		.											.	KCNH1-94	0			c.T318A						.						78.0	78.0	78.0					1																	211264025		2203	4300	6503	SO:0001819	synonymous_variant	3756	exon4			CCACACAGGTGTC	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.318T>A	1.37:g.211264025A>T		43	0		83	47	NM_002238	0	0	0	0	0	B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	CCDS1496.1																																																																																			.		0.378	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
INTS7	25896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	212141280	212141280	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:212141280T>C	ENST00000366994.3	-	15	2158	c.2054A>G	c.(2053-2055)tAt>tGt	p.Y685C	INTS7_ENST00000440600.2_Missense_Mutation_p.Y636C|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.Y685C|INTS7_ENST00000366992.3_Missense_Mutation_p.Y685C	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	685					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		AAGATCTCCATATCGAGAAGC	0.358																																					p.Y685C		.											.	INTS7-90	0			c.A2054G						.						107.0	108.0	107.0					1																	212141280		2203	4300	6503	SO:0001583	missense	25896	exon15			TCTCCATATCGAG	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2054A>G	1.37:g.212141280T>C	ENSP00000355961:p.Tyr685Cys	23	0		60	24	NM_001199812	0	0	0	0	0	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389938	0.82902	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.67171	0.13;-0.14;-0.25;0.06	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.85130	0.996;0.997;0.996;0.929	T	0.82784	-0.0286	10	0.87932	D	0	-18.2233	15.6182	0.76784	0.0:0.0:0.0:1.0	.	636;685;685;685	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	C	685;685;685;636	ENSP00000355961:Y685C;ENSP00000355960:Y685C;ENSP00000355959:Y685C;ENSP00000388908:Y636C	ENSP00000355959:Y685C	Y	-	2	0	INTS7	210207903	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.751000	0.85126	2.101000	0.63845	0.528000	0.53228	TAT	.		0.358	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	
INTS7	25896	broad.mit.edu;bcgsc.ca	37	1	212190255	212190255	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:212190255G>C	ENST00000366994.3	-	4	586	c.482C>G	c.(481-483)gCt>gGt	p.A161G	INTS7_ENST00000440600.2_Missense_Mutation_p.A112G|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.A161G|INTS7_ENST00000366992.3_Missense_Mutation_p.A161G	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	161					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTTTGCAGCAGCAAAAACAGC	0.363																																					p.A161G		.											.	INTS7-90	0			c.C482G						.						150.0	149.0	149.0					1																	212190255		2203	4300	6503	SO:0001583	missense	25896	exon4			GCAGCAGCAAAAA	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.482C>G	1.37:g.212190255G>C	ENSP00000355961:p.Ala161Gly	130	1		209	19	NM_001199812	0	0	0	0	0	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806278	0.90623	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.35	5.88	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);	0.051231	0.85682	D	0.000000	T	0.82148	0.4974	M	0.80616	2.505	0.80722	D	1	P;P;P;D	0.67145	0.906;0.906;0.906;0.996	P;P;P;D	0.77557	0.6;0.6;0.6;0.99	D	0.84939	0.0864	10	0.72032	D	0.01	-21.7189	15.129	0.72507	0.0678:0.0:0.9322:0.0	.	112;161;161;161	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	G	161;161;161;112	ENSP00000355961:A161G;ENSP00000355960:A161G;ENSP00000355959:A161G;ENSP00000388908:A112G	ENSP00000355959:A161G	A	-	2	0	INTS7	210256878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.342000	0.97044	1.490000	0.48466	0.655000	0.94253	GCT	.		0.363	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	
KCNK2	3776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	215408289	215408289	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:215408289T>A	ENST00000444842.2	+	7	1232	c.1082T>A	c.(1081-1083)aTc>aAc	p.I361N	KCNK2_ENST00000391894.2_Missense_Mutation_p.I346N|KCNK2_ENST00000391895.2_Missense_Mutation_p.I357N	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	361	Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GCCACCTCCATCAAGCGGAAG	0.557																																					p.I361N		.											.	KCNK2-90	0			c.T1082A						.						70.0	67.0	68.0					1																	215408289		2203	4300	6503	SO:0001583	missense	3776	exon7			CCTCCATCAAGCG	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1082T>A	1.37:g.215408289T>A	ENSP00000394033:p.Ile361Asn	91	0		112	50	NM_001017425	0	0	0	0	0	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583304	0.86748	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.23950	1.88;1.89;1.88	5.72	5.72	0.89469	.	0.142235	0.56097	D	0.000027	T	0.40694	0.1127	L	0.34521	1.04	0.58432	D	0.999998	D;P;D	0.67145	0.996;0.707;0.996	D;P;D	0.72625	0.978;0.649;0.978	T	0.16571	-1.0398	10	0.48119	T	0.1	.	16.002	0.80301	0.0:0.0:0.0:1.0	.	346;361;357	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	N	357;346;361	ENSP00000375765:I357N;ENSP00000375764:I346N;ENSP00000394033:I361N	ENSP00000375764:I346N	I	+	2	0	KCNK2	213474912	1.000000	0.71417	0.947000	0.38551	0.973000	0.67179	8.040000	0.89188	2.186000	0.69663	0.459000	0.35465	ATC	.		0.557	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217	
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	215822060	215822060	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:215822060A>G	ENST00000307340.3	-	66	14778	c.14392T>C	c.(14392-14394)Ttc>Ctc	p.F4798L	USH2A_ENST00000366943.2_Missense_Mutation_p.F4798L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4798	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGTTAGTGAAGGCTTGAAGG	0.522										HNSCC(13;0.011)																											p.F4798L		.											.	USH2A-115	0			c.T14392C						.						86.0	78.0	81.0					1																	215822060		2203	4300	6503	SO:0001583	missense	7399	exon66			TAGTGAAGGCTTG	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14392T>C	1.37:g.215822060A>G	ENSP00000305941:p.Phe4798Leu	141	0		249	128	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.827355	0.90955	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55234	0.53;0.53	5.63	4.49	0.54785	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000347	T	0.63534	0.2519	M	0.86420	2.815	0.42144	D	0.991522	D	0.56521	0.976	P	0.49387	0.609	T	0.66139	-0.5998	10	0.22109	T	0.4	.	12.9085	0.58166	0.8642:0.1358:0.0:0.0	.	4798	O75445	USH2A_HUMAN	L	4798	ENSP00000305941:F4798L;ENSP00000355910:F4798L	ENSP00000305941:F4798L	F	-	1	0	USH2A	213888683	1.000000	0.71417	0.988000	0.46212	0.752000	0.42762	7.290000	0.78711	0.953000	0.37825	0.533000	0.62120	TTC	.		0.522	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	215953376	215953376	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:215953376G>T	ENST00000307340.3	-	55	11134	c.10748C>A	c.(10747-10749)gCa>gAa	p.A3583E	USH2A_ENST00000366943.2_Missense_Mutation_p.A3583E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3583	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTAGTAGCTGCAACTACCTG	0.448										HNSCC(13;0.011)																											p.A3583E		.											.	USH2A-115	0			c.C10748A						.						73.0	62.0	66.0					1																	215953376		2203	4300	6503	SO:0001583	missense	7399	exon55			GTAGCTGCAACTA	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10748C>A	1.37:g.215953376G>T	ENSP00000305941:p.Ala3583Glu	121	0		168	22	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237078	0.58886	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	6.01	4.05	0.47172	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000426	T	0.67154	0.2863	M	0.79123	2.44	0.48632	D	0.999689	D	0.63880	0.993	P	0.58721	0.844	T	0.70146	-0.4952	10	0.72032	D	0.01	.	11.6669	0.51379	0.151:0.0:0.849:0.0	.	3583	O75445	USH2A_HUMAN	E	3583	ENSP00000305941:A3583E;ENSP00000355910:A3583E	ENSP00000305941:A3583E	A	-	2	0	USH2A	214019999	1.000000	0.71417	0.450000	0.26969	0.993000	0.82548	3.945000	0.56637	0.782000	0.33613	0.650000	0.86243	GCA	.		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	215963428	215963428	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:215963428G>T	ENST00000307340.3	-	51	10541	c.10155C>A	c.(10153-10155)gaC>gaA	p.D3385E	USH2A_ENST00000366943.2_Missense_Mutation_p.D3385E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3385					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGAAATCTTGTCAGAGCAAA	0.373										HNSCC(13;0.011)																											p.D3385E		.											.	USH2A-115	0			c.C10155A						.						87.0	88.0	88.0					1																	215963428		2203	4300	6503	SO:0001583	missense	7399	exon51			AATCTTGTCAGAG	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10155C>A	1.37:g.215963428G>T	ENSP00000305941:p.Asp3385Glu	60	0		85	20	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893515	0.72639	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.17691	2.26;2.27	5.76	3.88	0.44766	Fibronectin, type III (2);	0.000000	0.47455	D	0.000235	T	0.27629	0.0679	M	0.79475	2.455	0.44579	D	0.997545	P	0.52316	0.952	P	0.46885	0.53	T	0.07009	-1.0795	10	0.87932	D	0	.	11.3331	0.49487	0.1468:0.0:0.8532:0.0	.	3385	O75445	USH2A_HUMAN	E	3385	ENSP00000305941:D3385E;ENSP00000355910:D3385E	ENSP00000305941:D3385E	D	-	3	2	USH2A	214030051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.113000	0.57851	0.761000	0.33130	0.655000	0.94253	GAC	.		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	216052284	216052284	+	Missense_Mutation	SNP	C	C	A	rs373984123		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:216052284C>A	ENST00000307340.3	-	42	8766	c.8380G>T	c.(8380-8382)Gtt>Ttt	p.V2794F	USH2A_ENST00000366943.2_Missense_Mutation_p.V2794F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2794	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGCAAGCAACAATGGTGACA	0.458										HNSCC(13;0.011)																											p.V2794F		.											.	USH2A-115	0			c.G8380T						.						186.0	174.0	178.0					1																	216052284		2203	4300	6503	SO:0001583	missense	7399	exon42			AAGCAACAATGGT	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8380G>T	1.37:g.216052284C>A	ENSP00000305941:p.Val2794Phe	209	0		329	166	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813331	0.70912	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57752	0.38;0.38	6.07	5.15	0.70609	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40554	N	0.001069	T	0.72228	0.3434	M	0.85197	2.74	0.39638	D	0.970284	D	0.64830	0.994	P	0.62740	0.906	T	0.76263	-0.3023	10	0.56958	D	0.05	.	13.8755	0.63651	0.0:0.877:0.0:0.123	.	2794	O75445	USH2A_HUMAN	F	2794	ENSP00000305941:V2794F;ENSP00000355910:V2794F	ENSP00000305941:V2794F	V	-	1	0	USH2A	214118907	0.662000	0.27439	1.000000	0.80357	0.994000	0.84299	0.888000	0.28268	2.890000	0.99128	0.650000	0.86243	GTT	.		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	216144042	216144042	+	Nonsense_Mutation	SNP	G	G	T	rs147615382		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:216144042G>T	ENST00000307340.3	-	36	7268	c.6882C>A	c.(6880-6882)taC>taA	p.Y2294*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Y2294*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2294	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGCAAATCCGTAAGCACGAT	0.418										HNSCC(13;0.011)																											p.Y2294X		.											.	USH2A-115	0			c.C6882A						.						112.0	106.0	108.0					1																	216144042		2203	4300	6503	SO:0001587	stop_gained	7399	exon36			AAATCCGTAAGCA	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6882C>A	1.37:g.216144042G>T	ENSP00000305941:p.Tyr2294*	138	1		225	32	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	g	49	15.794315	0.99845	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.81	-1.1	0.09872	.	0.601185	0.13745	N	0.365719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.1574	0.20346	0.688:0.0:0.2079:0.1041	.	.	.	.	X	2294	.	ENSP00000305941:Y2294X	Y	-	3	2	USH2A	214210665	0.004000	0.15560	0.243000	0.24186	0.884000	0.51177	0.067000	0.14510	-0.124000	0.11724	-0.374000	0.07098	TAC	G|1.000;A|0.000		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	216390770	216390770	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:216390770G>T	ENST00000307340.3	-	15	3502	c.3116C>A	c.(3115-3117)gCa>gAa	p.A1039E	USH2A_ENST00000366942.3_Missense_Mutation_p.A1039E|USH2A_ENST00000366943.2_Missense_Mutation_p.A1039E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1039	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGTGGCTTGCACTGGGAAC	0.473										HNSCC(13;0.011)																											p.A1039E		.											.	USH2A-115	0			c.C3116A						.						108.0	91.0	97.0					1																	216390770		2203	4300	6503	SO:0001583	missense	7399	exon15			TGGCTTGCACTGG	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3116C>A	1.37:g.216390770G>T	ENSP00000305941:p.Ala1039Glu	220	1		268	82	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253647	0.80135	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61510	0.1;0.1;0.1	5.22	5.22	0.72569	EGF-like, laminin (3);	0.000000	0.40554	U	0.001073	T	0.74824	0.3767	M	0.70275	2.135	0.50467	D	0.999879	D;D	0.76494	0.968;0.999	P;D	0.70935	0.84;0.971	T	0.73154	-0.4072	10	0.34782	T	0.22	.	18.78	0.91928	0.0:0.0:1.0:0.0	.	1039;1039	O75445-2;O75445	.;USH2A_HUMAN	E	1039	ENSP00000305941:A1039E;ENSP00000355910:A1039E;ENSP00000355909:A1039E	ENSP00000305941:A1039E	A	-	2	0	USH2A	214457393	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	8.398000	0.90195	2.443000	0.82685	0.591000	0.81541	GCA	.		0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	216498841	216498841	+	Silent	SNP	G	G	T	rs111033272		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:216498841G>T	ENST00000307340.3	-	6	1335	c.949C>A	c.(949-951)Cgg>Agg	p.R317R	USH2A_ENST00000366942.3_Silent_p.R317R|USH2A_ENST00000366943.2_Silent_p.R317R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	317	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGCAGTACCGCTGTGCCAAA	0.498										HNSCC(13;0.011)																											p.R317R		.											.	USH2A-115	0			c.C949A	GRCh37	CS042173	USH2A	S	rs111033272	.						79.0	72.0	74.0					1																	216498841		2203	4300	6503	SO:0001819	synonymous_variant	7399	exon6			AGTACCGCTGTGC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.949C>A	1.37:g.216498841G>T		113	0		175	76	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																			.		0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
TGFB2	7042	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	218607682	218607682	+	Silent	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:218607682A>C	ENST00000366930.4	+	4	1113	c.646A>C	c.(646-648)Agg>Cgg	p.R216R	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Silent_p.R244R	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	216					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)		TTTTCCAGACAGGAACCTGGG	0.363																																					p.R244R		.											.	TGFB2-710	0			c.A730C						.						69.0	66.0	67.0					1																	218607682		2203	4300	6503	SO:0001819	synonymous_variant	7042	exon5			CCAGACAGGAACC	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.646A>C	1.37:g.218607682A>C		98	0		161	22	NM_001135599	0	0	0	0	0	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	CCDS1521.1																																																																																			.		0.363	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
EPRS	2058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	220152840	220152840	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:220152840T>G	ENST00000366923.3	-	27	4098	c.3829A>C	c.(3829-3831)Act>Cct	p.T1277P		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1277	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ATAGTTCGAGTTGTCAGGCCC	0.408																																					p.T1277P		.											.	EPRS-92	0			c.A3829C						.						127.0	121.0	123.0					1																	220152840		2203	4300	6503	SO:0001583	missense	2058	exon27			TTCGAGTTGTCAG	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3829A>C	1.37:g.220152840T>G	ENSP00000355890:p.Thr1277Pro	105	0		192	108	NM_004446	0	0	0	0	0	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738895	0.89573	.	.	ENSG00000136628	ENST00000366923	T	0.32023	1.47	5.93	5.93	0.95920	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	H	0.99789	4.78	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.87693	0.2555	10	0.87932	D	0	-20.3599	16.3756	0.83387	0.0:0.0:0.0:1.0	.	1277	P07814	SYEP_HUMAN	P	1277	ENSP00000355890:T1277P	ENSP00000355890:T1277P	T	-	1	0	EPRS	218219463	1.000000	0.71417	0.976000	0.42696	0.975000	0.68041	7.698000	0.84413	2.270000	0.75569	0.460000	0.39030	ACT	.		0.408	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
EPRS	2058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	220178699	220178699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:220178699C>A	ENST00000366923.3	-	16	2223	c.1954G>T	c.(1954-1956)Gaa>Taa	p.E652*		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	652	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ATTAGCTCTTCATGCTGTAAA	0.343																																					p.E652X		.											.	EPRS-92	0			c.G1954T						.						87.0	87.0	87.0					1																	220178699		2202	4298	6500	SO:0001587	stop_gained	2058	exon16			GCTCTTCATGCTG	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1954G>T	1.37:g.220178699C>A	ENSP00000355890:p.Glu652*	21	0		49	20	NM_004446	0	0	0	0	0	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Nonsense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	42	9.486240	0.99184	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-30.867	19.4637	0.94929	0.0:1.0:0.0:0.0	.	.	.	.	X	652;659;676	.	ENSP00000355890:E652X	E	-	1	0	EPRS	218245322	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.148000	0.77389	2.675000	0.91044	0.655000	0.94253	GAA	.		0.343	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
BPNT1	10380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	220247364	220247364	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:220247364C>T	ENST00000469520.2	-	4	619	c.170G>A	c.(169-171)aGc>aAc	p.S57N	BPNT1_ENST00000414869.2_Missense_Mutation_p.S57N|BPNT1_ENST00000544404.1_Missense_Mutation_p.S2N|BPNT1_ENST00000354807.3_Missense_Mutation_p.S57N|BPNT1_ENST00000322067.7_Missense_Mutation_p.S57N|BPNT1_ENST00000482136.1_5'UTR			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	57					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		AGAACATATGCTCATCTGTGC	0.398																																					p.S57N		.											.	BPNT1-91	0			c.G170A						.						182.0	174.0	176.0					1																	220247364		1882	4122	6004	SO:0001583	missense	10380	exon3			CATATGCTCATCT	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.170G>A	1.37:g.220247364C>T	ENSP00000446828:p.Ser57Asn	95	0		159	34	NM_006085	0	0	0	0	0	A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519659	0.85495	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000480959;ENST00000498237	T;T;T;T;T;T;T;D;T	0.83419	0.75;0.75;0.75;-0.73;0.75;0.75;0.75;-1.72;0.75	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.88706	0.6509	M	0.65975	2.015	0.80722	D	1	P;D;P	0.59767	0.627;0.986;0.638	P;P;B	0.56751	0.449;0.805;0.338	D	0.88930	0.3372	10	0.54805	T	0.06	.	18.9654	0.92694	0.0:1.0:0.0:0.0	.	57;57;57	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	N	57;57;57;57;2;57;57;57;2;57	ENSP00000318852:S57N;ENSP00000446828:S57N;ENSP00000346862:S57N;ENSP00000444398:S2N;ENSP00000410348:S57N;ENSP00000446953:S57N;ENSP00000446850:S57N;ENSP00000448740:S2N;ENSP00000449883:S57N	ENSP00000307087:S57N	S	-	2	0	BPNT1	218313987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.065000	0.64344	2.579000	0.87056	0.644000	0.83932	AGC	.		0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085	
HHIPL2	79802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	222705308	222705308	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:222705308C>T	ENST00000343410.6	-	6	1781	c.1723G>A	c.(1723-1725)Ggg>Agg	p.G575R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	575					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CATTTGTTACCTGCTTCATCT	0.433																																					p.G575R		.											.	HHIPL2-69	0			c.G1723A						.						78.0	76.0	77.0					1																	222705308		2203	4300	6503	SO:0001630	splice_region_variant	79802	exon6			TGTTACCTGCTTC	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1723+1G>A	1.37:g.222705308C>T		77	0		145	49	NM_024746	0	0	0	0	0	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186358	0.78789	.	.	ENSG00000143512	ENST00000343410	T	0.37235	1.21	4.28	4.28	0.50868	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72776	-0.4191	9	.	.	.	-18.1572	15.3894	0.74731	0.0:1.0:0.0:0.0	.	575	Q6UWX4	HIPL2_HUMAN	R	575	ENSP00000342118:G575R	.	G	-	1	0	HHIPL2	220771931	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	7.400000	0.79949	2.304000	0.77564	0.591000	0.81541	GGG	.		0.433	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	Missense_Mutation
DNAH14	127602	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	225267153	225267153	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:225267153G>T	ENST00000445597.2	+	14	2471	c.2471G>T	c.(2470-2472)aGt>aTt	p.S824I	DNAH14_ENST00000439375.2_Missense_Mutation_p.S890I|DNAH14_ENST00000430092.1_Missense_Mutation_p.S890I			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	824					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ATGAAGTTAAGTAAAATAAAT	0.328																																					p.S890I		.											.	DNAH14-23	0			c.G2669T						.						87.0	77.0	80.0					1																	225267153		692	1587	2279	SO:0001583	missense	127602	exon18			AGTTAAGTAAAAT	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.2471G>T	1.37:g.225267153G>T	ENSP00000409472:p.Ser824Ile	220	0		256	38	NM_001373	0	0	0	0	0	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	ENST00000445597.2	37		.	.	.	.	.	.	.	.	.	.	G	10.87	1.473237	0.26423	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	T;T;T	0.30448	2.54;1.53;1.53	5.49	0.621	0.17643	.	.	.	.	.	T	0.15392	0.0371	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.20184	0.028	T	0.32561	-0.9902	9	0.21014	T	0.42	.	5.8589	0.18734	0.2868:0.0:0.5705:0.1427	.	890	Q0VDD8-4	.	I	824;890;890	ENSP00000409472:S824I;ENSP00000414402:S890I;ENSP00000392061:S890I	ENSP00000414402:S890I	S	+	2	0	DNAH14	223333776	0.004000	0.15560	0.000000	0.03702	0.009000	0.06853	0.151000	0.16283	0.214000	0.20742	-0.302000	0.09304	AGT	.		0.328	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166	
CDC42BPA	8476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	227261686	227261686	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:227261686C>G	ENST00000366769.3	-	19	3905	c.2614G>C	c.(2614-2616)Gcg>Ccg	p.A872P	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A872P|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A791P|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A872P|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A872P|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A872P|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A872P	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCCAGTTTCGCAAAACGACGC	0.383																																					p.A872P		.											.	CDC42BPA-549	0			c.G2614C						.						140.0	138.0	139.0					1																	227261686		2203	4300	6503	SO:0001583	missense	8476	exon19			GTTTCGCAAAACG	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2614G>C	1.37:g.227261686C>G	ENSP00000355731:p.Ala872Pro	48	0		56	17	NM_003607	0	0	0	0	0		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.523275|5.523275	0.96431|0.96431	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000441725	T;T;T;T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96;0.96;0.96;0.96|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56790|0.56790	0.2009|0.2009	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;0.988;0.999;0.976;0.997;0.999|.	D;D;P;D;P;P;D|.	0.91635|.	0.999;0.966;0.733;0.986;0.792;0.905;0.942|.	T|T	0.49916|0.49916	-0.8888|-0.8888	10|5	0.33141|.	T|.	0.24|.	.|.	19.8411|19.8411	0.96685|0.96685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	872;872;136;791;872;872;74|.	F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.|.	P|S	872;791;872;872;872;136;872;872|74;165;45	ENSP00000355731:A872P;ENSP00000355729:A791P;ENSP00000335341:A872P;ENSP00000355728:A872P;ENSP00000355726:A872P;ENSP00000443275:A872P;ENSP00000355727:A872P|.	ENSP00000335341:A872P|.	A|C	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225328309|225328309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.378000|7.378000	0.79679|0.79679	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCG|TGC	.		0.383	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
PRSS38	339501	bcgsc.ca	37	1	228004947	228004947	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228004947C>A	ENST00000366757.3	+	3	373	c.349C>A	c.(349-351)Ctc>Atc	p.L117I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	117	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTACGTAGGCCTCGTAAACCT	0.552																																					p.L117I		.											.	PRSS38-92	0			c.C349A						.						139.0	114.0	122.0					1																	228004947		2203	4300	6503	SO:0001583	missense	339501	exon3			GTAGGCCTCGTAA		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.349C>A	1.37:g.228004947C>A	ENSP00000355719:p.Leu117Ile	78	2		173	101	NM_183062	0	0	0	0	0	Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	C	9.089	1.001248	0.19121	.	.	ENSG00000185888	ENST00000366757	D	0.88431	-2.38	4.23	0.865	0.19074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.390052	0.19002	N	0.125316	T	0.74336	0.3703	N	0.05487	-0.04	0.09310	N	1	P	0.36616	0.561	B	0.40285	0.325	T	0.66826	-0.5825	10	0.02654	T	1	.	10.5266	0.44952	0.6595:0.3405:0.0:0.0	.	117	A1L453	PRS38_HUMAN	I	117	ENSP00000355719:L117I	ENSP00000355719:L117I	L	+	1	0	PRSS38	226071570	0.050000	0.20438	0.223000	0.23860	0.103000	0.19146	0.253000	0.18296	0.165000	0.19558	0.655000	0.94253	CTC	.		0.552	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062	
PRSS38	339501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	228005027	228005027	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228005027G>C	ENST00000366757.3	+	3	453	c.429G>C	c.(427-429)atG>atC	p.M143I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CATATGAGATGTACCACCCCA	0.562																																					p.M143I		.											.	PRSS38-92	0			c.G429C						.						182.0	147.0	159.0					1																	228005027		2203	4300	6503	SO:0001583	missense	339501	exon3			TGAGATGTACCAC		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.429G>C	1.37:g.228005027G>C	ENSP00000355719:p.Met143Ile	129	0		221	53	NM_183062	0	0	0	0	0	Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	5.058	0.196326	0.09599	.	.	ENSG00000185888	ENST00000366757	T	0.59638	0.25	4.34	2.36	0.29203	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	3.510730	0.00822	N	0.001592	T	0.37376	0.1001	N	0.04018	-0.295	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.27938	-1.0059	10	0.20046	T	0.44	.	8.1101	0.30909	0.1436:0.0:0.8564:0.0	.	143	A1L453	PRS38_HUMAN	I	143	ENSP00000355719:M143I	ENSP00000355719:M143I	M	+	3	0	PRSS38	226071650	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.087000	0.14958	0.705000	0.31890	0.655000	0.94253	ATG	.		0.562	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062	
OBSCN	84033	broad.mit.edu;bcgsc.ca	37	1	228465520	228465520	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228465520G>A	ENST00000422127.1	+	25	6864	c.6820G>A	c.(6820-6822)Gcc>Acc	p.A2274T	RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.A2703T|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2274T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1121T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2274					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAATTTGTAGCCGAAAATGC	0.617																																					p.A2703T		.											.	OBSCN-403	0			c.G8107A						.						69.0	71.0	70.0					1																	228465520		1923	4133	6056	SO:0001583	missense	84033	exon30			TTTGTAGCCGAAA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6820G>A	1.37:g.228465520G>A	ENSP00000409493:p.Ala2274Thr	323	2		533	116	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013093	0.54468	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.69435	-0.02;-0.4;-0.06	4.28	4.28	0.50868	.	0.157471	0.40728	N	0.001029	T	0.77432	0.4129	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	0.963;1.0	P;D	0.91635	0.63;0.999	T	0.75158	-0.3416	10	0.29301	T	0.29	.	16.8913	0.86088	0.0:0.0:1.0:0.0	.	2274;2274	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	2274;2274;1121	ENSP00000284548:A2274T;ENSP00000409493:A2274T;ENSP00000352613:A1121T	ENSP00000284548:A2274T	A	+	1	0	OBSCN	226532143	1.000000	0.71417	0.873000	0.34254	0.108000	0.19459	8.672000	0.91181	2.224000	0.72417	0.313000	0.20887	GCC	.		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	228469788	228469788	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228469788G>T	ENST00000422127.1	+	31	8396	c.8352G>T	c.(8350-8352)caG>caT	p.Q2784H	OBSCN_ENST00000570156.2_Missense_Mutation_p.Q3213H|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q2784H|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.Q1631H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2784	Ig-like 27.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCGCTTCCAGGCCACACGTC	0.637																																					p.Q3213H		.											.	OBSCN-403	0			c.G9639T						.						30.0	37.0	34.0					1																	228469788		2060	4203	6263	SO:0001583	missense	84033	exon36			CTTCCAGGCCACA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8352G>T	1.37:g.228469788G>T	ENSP00000409493:p.Gln2784His	368	2		543	322	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	5.395	0.258175	0.10239	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.68181	-0.31;-0.31;-0.31	4.45	-0.00165	0.14033	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	1.442910	0.04496	N	0.380448	T	0.67401	0.2889	L	0.39898	1.24	0.21782	N	0.999549	D;B;B	0.62365	0.991;0.001;0.002	P;B;B	0.57620	0.824;0.004;0.013	T	0.52139	-0.8615	10	0.41790	T	0.15	.	3.5406	0.07809	0.0768:0.2387:0.3193:0.3652	.	2784;2784;2784	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	H	2784;2784;1631;483;190	ENSP00000284548:Q2784H;ENSP00000409493:Q2784H;ENSP00000352613:Q1631H	ENSP00000284548:Q2784H	Q	+	3	2	OBSCN	226536411	0.334000	0.24739	0.013000	0.15412	0.025000	0.11179	1.146000	0.31589	-0.203000	0.10251	-0.502000	0.04539	CAG	.		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	228496916	228496916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228496916G>T	ENST00000422127.1	+	48	12900	c.12856G>T	c.(12856-12858)Gga>Tga	p.G4286*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.G5243*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.G1405*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.G4286*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.G1920*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4286	Ig-like 44.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGGCTTTAGGAGGGGTGCC	0.642																																					p.G5243X		.											.	OBSCN-403	0			c.G15727T						.						20.0	23.0	22.0					1																	228496916		1979	4174	6153	SO:0001587	stop_gained	84033	exon59			GCTTTAGGAGGGG	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12856G>T	1.37:g.228496916G>T	ENSP00000409493:p.Gly4286*	232	1		365	98	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	63	73.349299	0.99992	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.	.	.	5.37	5.37	0.77165	.	0.070878	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	17.2365	0.87000	0.0:0.0:1.0:0.0	.	.	.	.	X	4286;4286;1920;1405	.	ENSP00000284548:G4286X	G	+	1	0	OBSCN	226563539	1.000000	0.71417	0.971000	0.41717	0.036000	0.12997	3.609000	0.54117	2.686000	0.91538	0.561000	0.74099	GGA	.		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	bcgsc.ca	37	1	228506745	228506745	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:228506745G>T	ENST00000422127.1	+	54	14336	c.14292G>T	c.(14290-14292)gaG>gaT	p.E4764D	OBSCN_ENST00000570156.2_Missense_Mutation_p.E5721D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1883D|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4764D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2398D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4764					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCCAGAGGAGGACGGCCGCT	0.662																																					p.E5721D		.											.	OBSCN-403	0			c.G17163T						.						19.0	23.0	22.0					1																	228506745		2198	4290	6488	SO:0001583	missense	84033	exon65			AGAGGAGGACGGC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14292G>T	1.37:g.228506745G>T	ENSP00000409493:p.Glu4764Asp	220	4		447	237	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	14.17	2.456718	0.43634	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.70516	-0.1;-0.49;-0.43;0.09	4.03	1.64	0.23874	.	0.000000	0.64402	D	0.000003	T	0.71324	0.3326	L	0.34521	1.04	0.35847	D	0.826447	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.70396	-0.4883	10	0.31617	T	0.26	.	7.9808	0.30183	0.5184:0.0:0.4816:0.0	.	4764;4764	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	D	4764;4764;2398;1883	ENSP00000284548:E4764D;ENSP00000409493:E4764D;ENSP00000355668:E2398D;ENSP00000355670:E1883D	ENSP00000284548:E4764D	E	+	3	2	OBSCN	226573368	0.999000	0.42202	0.973000	0.42090	0.033000	0.12548	0.553000	0.23391	0.165000	0.19558	-0.642000	0.03964	GAG	.		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
PGBD5	79605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	230468646	230468646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:230468646C>T	ENST00000525115.1	-	5	1033	c.1010G>A	c.(1009-1011)tGg>tAg	p.W337*	PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Nonsense_Mutation_p.W291*|PGBD5_ENST00000321327.2_Nonsense_Mutation_p.W436*			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	337						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TTTGTTGTACCAGCAGATCAA	0.622																																					p.W406X		.											.	PGBD5-93	0			c.G1217A						.						213.0	177.0	189.0					1																	230468646		2203	4300	6503	SO:0001587	stop_gained	79605	exon5			TTGTACCAGCAGA	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.1010G>A	1.37:g.230468646C>T	ENSP00000431404:p.Trp337*	180	0		358	177	NM_001258311	0	0	0	0	0	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Nonsense_Mutation	SNP	ENST00000525115.1	37		.	.	.	.	.	.	.	.	.	.	-	39	7.680953	0.98428	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9822	19.7826	0.96422	0.0:1.0:0.0:0.0	.	.	.	.	X	291;436;337	.	ENSP00000322530:W436X	W	-	2	0	PGBD5	228535269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.568000	0.82369	2.679000	0.91253	0.579000	0.79373	TGG	.		0.622	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554	
TRIM67	440730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	231349591	231349591	+	Silent	SNP	C	C	A	rs200465476		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:231349591C>A	ENST00000366653.5	+	9	2154	c.2154C>A	c.(2152-2154)acC>acA	p.T718T	TRIM67_ENST00000449018.3_Silent_p.T656T|TRIM67_ENST00000366652.2_Silent_p.T718T|TRIM67_ENST00000444294.3_Silent_p.T716T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	718	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				AGGGGGCCACCGTGGGCGTGC	0.602																																					p.T718T		.											.	TRIM67-229	0			c.C2154A						.						101.0	110.0	107.0					1																	231349591		2088	4210	6298	SO:0001819	synonymous_variant	440730	exon9			GGCCACCGTGGGC	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2154C>A	1.37:g.231349591C>A		383	0		666	345	NM_001004342	0	0	0	0	0	Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	CCDS44333.1																																																																																			C|0.998;T|0.002		0.602	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342	
DISC1	27185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	231885794	231885794	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:231885794G>C	ENST00000602281.1	+	4	1293	c.1240G>C	c.(1240-1242)Gct>Cct	p.A414P	DISC1_ENST00000602873.1_Missense_Mutation_p.A64P|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.A414P|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.A414P|DISC1_ENST00000366633.3_Missense_Mutation_p.A414P|DISC1_ENST00000537876.1_Missense_Mutation_p.A414P|DISC1_ENST00000366636.4_Missense_Mutation_p.A414P|DISC1_ENST00000539444.1_Missense_Mutation_p.A414P	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	414	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACAAGTCCAGGCTGCCTTGCG	0.517																																					p.A446P		.											.	DISC1-91	0			c.G1336C						.						76.0	76.0	76.0					1																	231885794		2203	4300	6503	SO:0001583	missense	27185	exon5			GTCCAGGCTGCCT	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1240G>C	1.37:g.231885794G>C	ENSP00000473425:p.Ala414Pro	158	0		276	74	NM_001164537	0	0	0	0	0	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.944449	0.73672	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T	0.15256	2.83;2.66;2.65;2.47;2.84;2.48;2.48;2.44	4.32	2.16	0.27623	.	0.298220	0.31872	N	0.006929	T	0.31796	0.0808	L	0.60455	1.87	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;0.998;0.996;0.999;0.996;0.998;0.998;0.996;0.998;0.999;0.999;0.999;0.999;0.999;0.996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.74023	0.982;0.976;0.982;0.952;0.966;0.93;0.919;0.966;0.936;0.93;0.93;0.919;0.93;0.952;0.966;0.952;0.966;0.952;0.919	T	0.02053	-1.1222	10	0.56958	D	0.05	-2.8721	8.3929	0.32540	0.0:0.0:0.5413:0.4587	.	446;414;446;414;414;414;414;414;64;414;414;414;414;414;414;414;414;414;414	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0C1;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	P	414;414;414;446;414;414;414;414;414;414;414	ENSP00000403888:A414P;ENSP00000355596:A414P;ENSP00000443996:A414P;ENSP00000440909:A414P;ENSP00000355593:A414P;ENSP00000440953:A414P;ENSP00000295051:A414P;ENSP00000441193:A414P	ENSP00000295051:A414P	A	+	1	0	DISC1	229952417	0.922000	0.31269	0.049000	0.19019	0.839000	0.47603	1.387000	0.34430	0.954000	0.37851	0.655000	0.94253	GCT	.		0.517	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662	
ARID4B	51742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	235357437	235357437	+	Silent	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:235357437T>G	ENST00000264183.3	-	19	2513	c.2016A>C	c.(2014-2016)acA>acC	p.T672T	ARID4B_ENST00000366603.2_Silent_p.T672T|ARID4B_ENST00000349213.3_Silent_p.T586T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	672					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GAGATGGATTTGTCTGAAATG	0.353																																					p.T672T		.											.	ARID4B-228	0			c.A2016C						.						163.0	154.0	157.0					1																	235357437		2203	4300	6503	SO:0001819	synonymous_variant	51742	exon19			TGGATTTGTCTGA	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2016A>C	1.37:g.235357437T>G		69	0		107	54	NM_016374	0	0	0	0	0	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.257989	0.22965	.	.	ENSG00000054267	ENST00000444620	.	.	.	5.22	-0.0461	0.13848	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29912	-0.9996	4	.	.	.	-13.8611	0.1455	0.00088	0.3416:0.1676:0.2095:0.2813	.	.	.	.	P	72	.	.	Q	-	2	0	ARID4B	233424060	0.980000	0.34600	1.000000	0.80357	0.972000	0.66771	0.010000	0.13242	0.359000	0.24239	0.454000	0.30748	CAA	.		0.353	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	
LYST	1130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	235904873	235904873	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:235904873C>G	ENST00000389794.3	-	31	8381	c.8207G>C	c.(8206-8208)tGt>tCt	p.C2736S	LYST_ENST00000389793.2_Missense_Mutation_p.C2736S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2736					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGTCTCCTTACAAGACCACAG	0.413																																					p.C2736S		.											.	LYST-143	0			c.G8207C						.						126.0	109.0	115.0					1																	235904873		2203	4300	6503	SO:0001583	missense	1130	exon31			TCCTTACAAGACC	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8207G>C	1.37:g.235904873C>G	ENSP00000374444:p.Cys2736Ser	128	0		189	42	NM_000081	0	0	0	0	0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071295	0.36566	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61742	0.08;0.08	5.11	4.19	0.49359	.	0.300687	0.44097	N	0.000496	T	0.45054	0.1323	L	0.37561	1.115	0.80722	D	1	B	0.19331	0.035	B	0.17722	0.019	T	0.31503	-0.9941	10	0.10111	T	0.7	.	14.452	0.67392	0.0:0.8533:0.1467:0.0	.	2736	Q99698	LYST_HUMAN	S	2736	ENSP00000374444:C2736S;ENSP00000374443:C2736S	ENSP00000374443:C2736S	C	-	2	0	LYST	233971496	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.111000	0.64628	1.264000	0.44198	0.591000	0.81541	TGT	.		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	235966313	235966313	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:235966313C>G	ENST00000389794.3	-	8	3781	c.3607G>C	c.(3607-3609)Gaa>Caa	p.E1203Q	LYST_ENST00000389793.2_Missense_Mutation_p.E1203Q|LYST_ENST00000536965.1_Missense_Mutation_p.E1203Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1203					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCCTCAGCTTCTTCTGAAAAA	0.373																																					p.E1203Q		.											.	LYST-143	0			c.G3607C						.						73.0	69.0	70.0					1																	235966313		2203	4300	6503	SO:0001583	missense	1130	exon8			CAGCTTCTTCTGA	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3607G>C	1.37:g.235966313C>G	ENSP00000374444:p.Glu1203Gln	45	0		69	8	NM_000081	0	0	0	0	0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261397	0.80358	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.73047	-0.71;-0.71;0.32	5.2	5.2	0.72013	.	0.100415	0.64402	D	0.000003	D	0.82595	0.5071	M	0.62723	1.935	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	T	0.81684	-0.0821	10	0.40728	T	0.16	.	18.7355	0.91753	0.0:1.0:0.0:0.0	.	1203;1203	Q99698-3;Q99698	.;LYST_HUMAN	Q	1203	ENSP00000374444:E1203Q;ENSP00000374443:E1203Q;ENSP00000438315:E1203Q	ENSP00000374443:E1203Q	E	-	1	0	LYST	234032936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.515000	0.73751	2.452000	0.82932	0.655000	0.94253	GAA	.		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	235972428	235972428	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:235972428C>A	ENST00000389794.3	-	5	1864	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	LYST_ENST00000389793.2_Missense_Mutation_p.A564S|LYST_ENST00000536965.1_Missense_Mutation_p.A564S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	564					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTCAAGGAAGCCTGCTGTAGT	0.458																																					p.A564S		.											.	LYST-143	0			c.G1690T						.						110.0	104.0	106.0					1																	235972428		2203	4300	6503	SO:0001583	missense	1130	exon5			AGGAAGCCTGCTG	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1690G>T	1.37:g.235972428C>A	ENSP00000374444:p.Ala564Ser	135	0		238	124	NM_000081	0	0	0	0	0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	9.028	0.986458	0.18889	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68903	-0.36;-0.36;1.33	5.6	5.6	0.85130	.	0.592108	0.18132	N	0.150686	T	0.61788	0.2375	N	0.25647	0.755	0.20821	N	0.999842	P;B	0.40660	0.726;0.258	P;B	0.46049	0.502;0.135	T	0.55477	-0.8135	10	0.28530	T	0.3	.	15.9192	0.79547	0.0:0.8649:0.1351:0.0	.	564;564	Q99698-3;Q99698	.;LYST_HUMAN	S	564	ENSP00000374444:A564S;ENSP00000374443:A564S;ENSP00000438315:A564S	ENSP00000374443:A564S	A	-	1	0	LYST	234039051	1.000000	0.71417	0.923000	0.36655	0.394000	0.30568	3.686000	0.54685	2.634000	0.89283	0.650000	0.86243	GCT	.		0.458	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	235973763	235973763	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:235973763G>C	ENST00000389794.3	-	5	529	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	LYST_ENST00000389793.2_Missense_Mutation_p.Q119E|LYST_ENST00000536965.1_Missense_Mutation_p.Q119E			Q99698	LYST_HUMAN	lysosomal trafficking regulator	119					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATTTTTCCTGAGTGGATCTT	0.373																																					p.Q119E		.											.	LYST-143	0			c.C355G						.						61.0	64.0	63.0					1																	235973763		2203	4300	6503	SO:0001583	missense	1130	exon5			TTTCCTGAGTGGA	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.355C>G	1.37:g.235973763G>C	ENSP00000374444:p.Gln119Glu	32	0		50	15	NM_000081	0	0	0	0	0	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080120	0.36662	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.13307	2.6;2.6;2.6	5.8	5.8	0.92144	.	0.483674	0.23563	N	0.046836	T	0.12135	0.0295	L	0.35723	1.085	0.40606	D	0.98162	B;B	0.33266	0.404;0.101	B;B	0.30316	0.114;0.017	T	0.07751	-1.0756	10	0.06891	T	0.86	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	119;119	Q99698-3;Q99698	.;LYST_HUMAN	E	119	ENSP00000374444:Q119E;ENSP00000374443:Q119E;ENSP00000438315:Q119E	ENSP00000374443:Q119E	Q	-	1	0	LYST	234040386	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.950000	0.75977	2.758000	0.94735	0.563000	0.77884	CAG	.		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
NID1	4811	broad.mit.edu;bcgsc.ca	37	1	236157101	236157101	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:236157101G>C	ENST00000264187.6	-	13	2681	c.2599C>G	c.(2599-2601)Cga>Gga	p.R867G	NID1_ENST00000366595.3_Missense_Mutation_p.R734G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	867	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGAATGGGTCGCTGTGGGTCT	0.632																																					p.R867G		.											.	NID1-154	0			c.C2599G						.						37.0	39.0	38.0					1																	236157101		2203	4300	6503	SO:0001583	missense	4811	exon13			TGGGTCGCTGTGG	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2599C>G	1.37:g.236157101G>C	ENSP00000264187:p.Arg867Gly	96	3		325	149	NM_002508	0	0	0	0	0	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.471208	0.26423	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.61392	0.11;0.11	5.56	2.38	0.29361	Thyroglobulin type-1 (3);	0.517247	0.21246	N	0.077731	T	0.40015	0.1100	L	0.35644	1.08	0.09310	N	0.999999	B;B	0.18166	0.0;0.026	B;B	0.17098	0.001;0.017	T	0.12708	-1.0537	10	0.16896	T	0.51	.	6.3647	0.21447	0.0785:0.1999:0.6102:0.1114	.	734;867	P14543-2;P14543	.;NID1_HUMAN	G	867;734	ENSP00000264187:R867G;ENSP00000355554:R734G	ENSP00000264187:R867G	R	-	1	2	NID1	234223724	0.011000	0.17503	0.257000	0.24404	0.013000	0.08279	1.249000	0.32839	1.316000	0.45131	0.455000	0.32223	CGA	.		0.632	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
ACTN2	88	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	236902766	236902766	+	Silent	SNP	G	G	C	rs572167559		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:236902766G>C	ENST00000366578.4	+	10	1207	c.1041G>C	c.(1039-1041)acG>acC	p.T347T	ACTN2_ENST00000542672.1_Silent_p.T347T|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	347					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACTTCAACACGCTGCAGACCA	0.597																																					p.T347T		.											.	ACTN2-95	0			c.G1041C						.						142.0	111.0	122.0					1																	236902766		2203	4300	6503	SO:0001819	synonymous_variant	88	exon10			CAACACGCTGCAG	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1041G>C	1.37:g.236902766G>C		170	1		274	139	NM_001103	0	0	0	0	0	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	CCDS1613.1																																																																																			.		0.597	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	
ACTN2	88	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	236902815	236902815	+	Missense_Mutation	SNP	G	G	C	rs572523462		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:236902815G>C	ENST00000366578.4	+	10	1256	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	ACTN2_ENST00000542672.1_Missense_Mutation_p.E364Q|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	364					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.E364K(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CATGCCCTCCGAGGGCAAGAT	0.602																																					p.E364Q		.											.	ACTN2-95	1	Substitution - Missense(1)	large_intestine(1)	c.G1090C						.						88.0	69.0	76.0					1																	236902815		2203	4300	6503	SO:0001583	missense	88	exon10			CCCTCCGAGGGCA	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1090G>C	1.37:g.236902815G>C	ENSP00000355537:p.Glu364Gln	128	0		193	54	NM_001103	0	0	0	0	0	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591705	0.66219	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.50813	0.73;0.73	5.51	5.51	0.81932	.	0.089323	0.85682	D	0.000000	T	0.71039	0.3293	M	0.78049	2.395	0.80722	D	1	B;P;D	0.56746	0.229;0.61;0.977	B;P;D	0.76575	0.197;0.549;0.988	T	0.70865	-0.4756	10	0.45353	T	0.12	.	19.4071	0.94651	0.0:0.0:1.0:0.0	.	364;134;364	B2RCS5;Q59FD9;P35609	.;.;ACTN2_HUMAN	Q	364;364;133	ENSP00000443495:E364Q;ENSP00000355537:E364Q	ENSP00000355537:E364Q	E	+	1	0	ACTN2	234969438	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.820000	0.99359	2.585000	0.87301	0.555000	0.69702	GAG	.		0.602	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	237664056	237664056	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237664056G>T	ENST00000366574.2	+	21	2566	c.2249G>T	c.(2248-2250)aGa>aTa	p.R750I	RYR2_ENST00000542537.1_Missense_Mutation_p.R734I|RYR2_ENST00000360064.6_Missense_Mutation_p.R748I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	750	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATCTGTTAAGAACTGATGAT	0.393																																					p.R750I		.											.	RYR2-158	0			c.G2249T						.						311.0	294.0	299.0					1																	237664056		1918	4134	6052	SO:0001583	missense	6262	exon21			TGTTAAGAACTGA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2249G>T	1.37:g.237664056G>T	ENSP00000355533:p.Arg750Ile	161	0		237	59	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879291	0.72294	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.60171	0.21;0.21;0.21	5.95	3.1	0.35709	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.073326	0.49305	D	0.000154	T	0.58438	0.2122	L	0.54323	1.7	0.80722	D	1	P	0.52692	0.955	P	0.51701	0.677	T	0.57230	-0.7847	10	0.66056	D	0.02	.	7.082	0.25237	0.1986:0.1231:0.6782:0.0	.	750	Q92736	RYR2_HUMAN	I	750;748;734	ENSP00000355533:R750I;ENSP00000353174:R748I;ENSP00000443798:R734I	ENSP00000353174:R748I	R	+	2	0	RYR2	235730679	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	1.821000	0.39041	0.429000	0.26202	0.650000	0.86243	AGA	.		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	ucsc.edu;bcgsc.ca	37	1	237666655	237666655	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237666655T>A	ENST00000366574.2	+	22	2780	c.2463T>A	c.(2461-2463)ccT>ccA	p.P821P	RYR2_ENST00000542537.1_Silent_p.P805P|RYR2_ENST00000360064.6_Silent_p.P819P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	821					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTATGCTCCTTGTTATGAAG	0.463																																					p.P821P		.											.	RYR2-158	0			c.T2463A						.						87.0	84.0	85.0					1																	237666655		1915	4128	6043	SO:0001819	synonymous_variant	6262	exon22			TGCTCCTTGTTAT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2463T>A	1.37:g.237666655T>A		119	2		188	100	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	ucsc.edu;bcgsc.ca	37	1	237801682	237801682	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237801682G>T	ENST00000366574.2	+	45	7135	c.6818G>T	c.(6817-6819)gGa>gTa	p.G2273V	RYR2_ENST00000542537.1_Missense_Mutation_p.G2257V|RYR2_ENST00000360064.6_Missense_Mutation_p.G2271V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2273	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGGTTGTGGACTGCAAAGT	0.413																																					p.G2273V		.											.	RYR2-158	0			c.G6818T						.						255.0	247.0	249.0					1																	237801682		1921	4135	6056	SO:0001583	missense	6262	exon45			GTTGTGGACTGCA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6818G>T	1.37:g.237801682G>T	ENSP00000355533:p.Gly2273Val	166	3		270	81	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621876	0.87460	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97209	-4.29;-4.29;-4.29	5.31	5.31	0.75309	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000007	D	0.98349	0.9452	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99376	1.0921	10	0.87932	D	0	-14.169	19.348	0.94373	0.0:0.0:1.0:0.0	.	2273	Q92736	RYR2_HUMAN	V	2273;2271;2257	ENSP00000355533:G2273V;ENSP00000353174:G2271V;ENSP00000443798:G2257V	ENSP00000353174:G2271V	G	+	2	0	RYR2	235868305	1.000000	0.71417	0.995000	0.50966	0.818000	0.46254	9.813000	0.99286	2.627000	0.88993	0.561000	0.74099	GGA	.		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	237811775	237811775	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237811775G>T	ENST00000366574.2	+	49	7691	c.7374G>T	c.(7372-7374)gcG>gcT	p.A2458A	RYR2_ENST00000542537.1_Silent_p.A2442A|RYR2_ENST00000360064.6_Silent_p.A2456A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2458	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACATGTCTGCGGGGTTTTGCC	0.458																																					p.A2458A		.											.	RYR2-158	0			c.G7374T						.						96.0	90.0	92.0					1																	237811775		1908	4136	6044	SO:0001819	synonymous_variant	6262	exon49			GTCTGCGGGGTTT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7374G>T	1.37:g.237811775G>T		179	0		269	33	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	237870480	237870480	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237870480A>T	ENST00000366574.2	+	68	10129	c.9812A>T	c.(9811-9813)gAg>gTg	p.E3271V	RYR2_ENST00000542537.1_Missense_Mutation_p.E3255V|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.E3269V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3271					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGAACTCAGAGCACATGAAC	0.483																																					p.E3271V		.											.	RYR2-158	0			c.A9812T						.						57.0	55.0	56.0					1																	237870480		2013	4176	6189	SO:0001583	missense	6262	exon68			ACTCAGAGCACAT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9812A>T	1.37:g.237870480A>T	ENSP00000355533:p.Glu3271Val	173	0		271	72	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.618422	0.66787	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.97089	-0.43;-4.24;-0.43	5.72	5.72	0.89469	.	0.078709	0.47852	D	0.000204	D	0.96442	0.8839	M	0.78049	2.395	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	D	0.94329	0.7560	10	0.87932	D	0	-18.0956	16.0156	0.80439	1.0:0.0:0.0:0.0	.	3271	Q92736	RYR2_HUMAN	V	3271;3269;3255;226	ENSP00000355533:E3271V;ENSP00000353174:E3269V;ENSP00000443798:E3255V	ENSP00000353174:E3269V	E	+	2	0	RYR2	235937103	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.287000	0.95975	2.189000	0.69895	0.533000	0.62120	GAG	.		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	237890397	237890397	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237890397C>G	ENST00000366574.2	+	76	11053	c.10736C>G	c.(10735-10737)cCt>cGt	p.P3579R	RYR2_ENST00000542537.1_Missense_Mutation_p.P3563R|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.P3577R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3579					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGAACATCCTCAGAGATCT	0.393																																					p.P3579R		.											.	RYR2-158	0			c.C10736G						.						77.0	74.0	75.0					1																	237890397		1844	4084	5928	SO:0001583	missense	6262	exon76			AACATCCTCAGAG	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10736C>G	1.37:g.237890397C>G	ENSP00000355533:p.Pro3579Arg	74	0		119	51	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504404	0.85176	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.98150	-4.75;-4.73;-4.75	4.98	4.98	0.66077	.	0.000000	0.56097	U	0.000022	D	0.98865	0.9616	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99816	1.1044	10	0.87932	D	0	-12.1731	18.6478	0.91418	0.0:1.0:0.0:0.0	.	3579	Q92736	RYR2_HUMAN	R	3579;3577;3563;534	ENSP00000355533:P3579R;ENSP00000353174:P3577R;ENSP00000443798:P3563R	ENSP00000353174:P3577R	P	+	2	0	RYR2	235957020	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	7.776000	0.85560	2.475000	0.83589	0.650000	0.86243	CCT	.		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	237947789	237947789	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237947789C>T	ENST00000366574.2	+	90	13094	c.12777C>T	c.(12775-12777)ctC>ctT	p.L4259L	RYR2_ENST00000542537.1_Silent_p.L4243L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.L4265L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4259					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCGAATGCTCAGTCTGAAGA	0.483																																					p.L4259L		.											.	RYR2-158	0			c.C12777T						.						53.0	55.0	55.0					1																	237947789		1925	4123	6048	SO:0001819	synonymous_variant	6262	exon90			AATGCTCAGTCTG	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12777C>T	1.37:g.237947789C>T		128	1		157	42	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	237947964	237947964	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237947964C>A	ENST00000366574.2	+	90	13269	c.12952C>A	c.(12952-12954)Ctc>Atc	p.L4318I	RYR2_ENST00000542537.1_Missense_Mutation_p.L4302I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.L4324I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4318					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGGGGAAGCCTCGTCGAAGG	0.512																																					p.L4318I		.											.	RYR2-158	0			c.C12952A						.						80.0	77.0	78.0					1																	237947964		1917	4132	6049	SO:0001583	missense	6262	exon90			GGAAGCCTCGTCG	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12952C>A	1.37:g.237947964C>A	ENSP00000355533:p.Leu4318Ile	104	0		182	93	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.676868	0.29783	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.97016	-0.39;-4.21;-0.39	5.11	2.05	0.26809	.	0.000000	0.49916	D	0.000125	D	0.96531	0.8868	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77557	0.99;0.957	D	0.93856	0.7149	10	0.23891	T	0.37	-8.4621	8.2014	0.31428	0.0:0.6728:0.0:0.3272	.	1292;4318	B4DGV4;Q92736	.;RYR2_HUMAN	I	4318;4324;4302;1292	ENSP00000355533:L4318I;ENSP00000353174:L4324I;ENSP00000443798:L4302I	ENSP00000353174:L4324I	L	+	1	0	RYR2	236014587	1.000000	0.71417	0.941000	0.38009	0.049000	0.14656	0.850000	0.27737	0.671000	0.31185	-0.345000	0.07892	CTC	.		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
ZP4	57829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	238048794	238048794	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:238048794G>C	ENST00000366570.4	-	8	1215	c.1057C>G	c.(1057-1059)Ctt>Gtt	p.L353V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	353	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTTCTGTGAAGGATGGAGACC	0.537																																					p.L353V	NSCLC(166;160 2029 11600 18754 19936)	.											.	ZP4-93	0			c.C1057G						.						67.0	67.0	67.0					1																	238048794		2203	4300	6503	SO:0001583	missense	57829	exon8			TGTGAAGGATGGA	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1057C>G	1.37:g.238048794G>C	ENSP00000355529:p.Leu353Val	262	0		387	57	NM_021186	0	0	0	0	0	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779055	0.31502	.	.	ENSG00000116996	ENST00000366570	D	0.83075	-1.68	4.95	3.06	0.35304	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.312207	0.30093	N	0.010422	D	0.88250	0.6386	M	0.75777	2.31	0.09310	N	1	P	0.50710	0.938	D	0.66351	0.943	T	0.79125	-0.1932	10	0.56958	D	0.05	-4.3464	8.0466	0.30553	0.0854:0.0:0.7574:0.1572	.	353	Q12836	ZP4_HUMAN	V	353	ENSP00000355529:L353V	ENSP00000355529:L353V	L	-	1	0	ZP4	236115417	0.918000	0.31147	0.303000	0.25071	0.253000	0.25986	1.325000	0.33724	0.484000	0.27630	0.655000	0.94253	CTT	.		0.537	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
ZP4	57829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	238049161	238049161	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:238049161C>A	ENST00000366570.4	-	7	1023	c.865G>T	c.(865-867)Gta>Tta	p.V289L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	289	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTGCTACTTACTGAGTAGCTG	0.483																																					p.V289L	NSCLC(166;160 2029 11600 18754 19936)	.											.	ZP4-93	0			c.G865T						.						145.0	140.0	142.0					1																	238049161		2203	4300	6503	SO:0001583	missense	57829	exon7			TACTTACTGAGTA	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.865G>T	1.37:g.238049161C>A	ENSP00000355529:p.Val289Leu	134	0		182	29	NM_021186	0	0	0	0	0	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427542	0.43122	.	.	ENSG00000116996	ENST00000366570	T	0.80738	-1.41	4.85	-1.23	0.09465	Zona pellucida sperm-binding protein (3);	0.743246	0.12760	N	0.441421	T	0.58538	0.2129	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.40776	-0.9545	10	0.09843	T	0.71	-2.3286	4.5949	0.12325	0.0:0.4124:0.2965:0.2911	.	289	Q12836	ZP4_HUMAN	L	289	ENSP00000355529:V289L	ENSP00000355529:V289L	V	-	1	0	ZP4	236115784	0.000000	0.05858	0.000000	0.03702	0.833000	0.47200	-0.271000	0.08572	-0.192000	0.10432	0.650000	0.86243	GTA	.		0.483	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
FMN2	56776	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	240371788	240371788	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:240371788C>A	ENST00000319653.9	+	5	3906	c.3676C>A	c.(3676-3678)Cct>Act	p.P1226T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1226	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCCCACTCCCTCCACCTGG	0.622																																					p.P1226T		.											.	FMN2-145	0			c.C3676A						.						30.0	29.0	29.0					1																	240371788		2202	4299	6501	SO:0001583	missense	56776	exon5			CCACTCCCTCCAC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3676C>A	1.37:g.240371788C>A	ENSP00000318884:p.Pro1226Thr	142	0		214	71	NM_020066	0	0	0	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	1.310	-0.602495	0.03744	.	.	ENSG00000155816	ENST00000319653	T	0.65364	-0.15	2.99	2.01	0.26516	Actin-binding FH2 (1);Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.513346	0.13821	U	0.360434	T	0.60366	0.2263	L	0.60455	1.87	0.80722	D	1	P	0.43826	0.818	P	0.44647	0.456	T	0.56649	-0.7944	9	.	.	.	.	10.4766	0.44667	0.0:0.7991:0.2009:0.0	.	1226	Q9NZ56	FMN2_HUMAN	T	1226	ENSP00000318884:P1226T	.	P	+	1	0	FMN2	238438411	0.003000	0.15002	0.054000	0.19295	0.159000	0.22180	1.173000	0.31920	0.551000	0.29008	0.472000	0.43445	CCT	.		0.622	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
KMO	8564	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	241725612	241725612	+	Missense_Mutation	SNP	A	A	T	rs549995969		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:241725612A>T	ENST00000366559.4	+	7	906	c.595A>T	c.(595-597)Att>Ttt	p.I199F	KMO_ENST00000366557.4_Missense_Mutation_p.I199F|KMO_ENST00000366558.3_Missense_Mutation_p.I199F	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GGAGTTGACTATTCCACCTAA	0.468																																					p.I199F		.											.	KMO-92	0			c.A595T						.						228.0	204.0	212.0					1																	241725612		2203	4300	6503	SO:0001583	missense	8564	exon7			TTGACTATTCCAC	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.595A>T	1.37:g.241725612A>T	ENSP00000355517:p.Ile199Phe	229	1		422	155	NM_003679	0	0	0	0	0		Missense_Mutation	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434517	0.83776	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.43294	0.95;0.95;0.95	5.57	5.57	0.84162	Monooxygenase, FAD-binding (1);	0.041854	0.85682	D	0.000000	T	0.64394	0.2594	M	0.81614	2.55	0.80722	D	1	D;D;D	0.65815	0.984;0.993;0.995	P;D;D	0.64687	0.903;0.928;0.918	T	0.69800	-0.5047	10	0.87932	D	0	.	13.6795	0.62474	1.0:0.0:0.0:0.0	.	199;199;199	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	F	199	ENSP00000355517:I199F;ENSP00000355516:I199F;ENSP00000355515:I199F	ENSP00000355515:I199F	I	+	1	0	KMO	239792235	1.000000	0.71417	0.929000	0.37066	0.736000	0.42039	8.571000	0.90752	2.110000	0.64415	0.459000	0.35465	ATT	.		0.468	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679	
WDR64	128025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	241846794	241846794	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:241846794T>C	ENST00000366552.2	+	6	807	c.600T>C	c.(598-600)aaT>aaC	p.N200N	WDR64_ENST00000437684.2_Silent_p.N200N|WDR64_ENST00000461971.1_3'UTR	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	200										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TCTAGGAAAATTATTTTGTCA	0.378																																					p.N200N		.											.	WDR64-91	0			c.T600C						.						21.0	19.0	19.0					1																	241846794		692	1591	2283	SO:0001819	synonymous_variant	128025	exon6			GGAAAATTATTTT	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.600T>C	1.37:g.241846794T>C		82	0		98	21	NM_144625	0	0	0	0	0	B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37																																																																																				.		0.378	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
CEP170	9859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	243349332	243349332	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:243349332C>A	ENST00000366542.1	-	10	1366	c.1315G>T	c.(1315-1317)Ggg>Tgg	p.G439W	CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	439						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AACAATTTCCCATGTGGAACA	0.458																																					p.G439W		.											.	CEP170-93	0			c.G1315T						.						70.0	61.0	64.0					1																	243349332		1870	4104	5974	SO:0001583	missense	9859	exon10			ATTTCCCATGTGG	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1315G>T	1.37:g.243349332C>A	ENSP00000355500:p.Gly439Trp	218	0		305	116	NM_014812	0	0	0	0	0	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.51|17.51	3.407712|3.407712	0.62399|0.62399	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000424081|ENST00000336415	T|.	0.45668|.	0.89|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.056658|.	0.64402|.	D|.	0.000002|.	T|T	0.61837|0.61837	0.2379|0.2379	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	P|.	0.61940|.	0.896|.	T|T	0.57207|0.57207	-0.7851|-0.7851	10|5	0.72032|.	D|.	0.01|.	-11.562|-11.562	17.9417|17.9417	0.89027|0.89027	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	439|.	Q5SW79|.	CE170_HUMAN|.	W|I	439;337|402	ENSP00000355500:G439W|.	ENSP00000355500:G439W|.	G|M	-|-	1|3	0|0	CEP170|CEP170	241415955|241415955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.556000|3.556000	0.53734|0.53734	2.468000|2.468000	0.83385|0.83385	0.585000|0.585000	0.79938|0.79938	GGG|ATG	.		0.458	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
CEP170	9859	broad.mit.edu;bcgsc.ca	37	1	243354352	243354352	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:243354352C>A	ENST00000366542.1	-	8	1127	c.1076G>T	c.(1075-1077)aGt>aTt	p.S359I	CEP170_ENST00000366544.1_Missense_Mutation_p.S359I|CEP170_ENST00000366543.1_Missense_Mutation_p.S359I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	359						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGGAACATCACTTTTAATGCT	0.373																																					p.S359I		.											.	CEP170-93	0			c.G1076T						.						27.0	25.0	26.0					1																	243354352		1831	4078	5909	SO:0001583	missense	9859	exon8			ACATCACTTTTAA	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1076G>T	1.37:g.243354352C>A	ENSP00000355500:p.Ser359Ile	202	1		228	53	NM_001042405	0	0	0	0	0	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.244154|4.244154	0.79912|0.79912	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.68903|.	-0.36;-0.25;-0.25|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75213|0.75213	0.3819|0.3819	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.998|.	T|T	0.75569|0.75569	-0.3272|-0.3272	10|5	0.72032|.	D|.	0.01|.	-13.1561|-13.1561	18.1223|18.1223	0.89576|0.89576	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	359;359;359|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	I|L	359;359;359;257|261	ENSP00000355500:S359I;ENSP00000355502:S359I;ENSP00000355501:S359I|.	ENSP00000355500:S359I|.	S|V	-|-	2|1	0|0	CEP170|CEP170	241420975|241420975	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.332000|7.332000	0.79203|0.79203	2.282000|2.282000	0.76494|0.76494	0.455000|0.455000	0.32223|0.32223	AGT|GTG	.		0.373	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
KIF26B	55083	ucsc.edu;bcgsc.ca	37	1	245583020	245583020	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:245583020C>T	ENST00000407071.2	+	4	1579	c.1139C>T	c.(1138-1140)aCa>aTa	p.T380I		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	380					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCACAGGCACATCGGTGGCC	0.592																																					p.T380I		.											.	KIF26B-25	0			c.C1139T						.						94.0	97.0	96.0					1																	245583020		1998	4169	6167	SO:0001583	missense	55083	exon4			CAGGCACATCGGT	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1139C>T	1.37:g.245583020C>T	ENSP00000385545:p.Thr380Ile	282	3		496	119	NM_018012	0	0	0	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310424	0.60414	.	.	ENSG00000162849	ENST00000407071	T	0.80214	-1.35	5.56	5.56	0.83823	.	.	.	.	.	T	0.79782	0.4505	M	0.64997	1.995	0.80722	D	1	B	0.32324	0.364	B	0.28784	0.094	T	0.79557	-0.1754	9	0.59425	D	0.04	.	19.5433	0.95282	0.0:1.0:0.0:0.0	.	380	Q2KJY2	KI26B_HUMAN	I	380	ENSP00000385545:T380I	ENSP00000385545:T380I	T	+	2	0	KIF26B	243649643	1.000000	0.71417	0.972000	0.41901	0.592000	0.36648	4.656000	0.61483	2.594000	0.87642	0.643000	0.83706	ACA	.		0.592	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
KIF26B	55083	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	245766029	245766029	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:245766029C>G	ENST00000407071.2	+	6	1941	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	KIF26B_ENST00000366518.4_Missense_Mutation_p.Q120E	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	501	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGAGGCAACCAGGTTCCTCC	0.502																																					p.Q501E		.											.	KIF26B-25	0			c.C1501G						.						125.0	124.0	125.0					1																	245766029		1912	4135	6047	SO:0001583	missense	55083	exon6			GGCAACCAGGTTC	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1501C>G	1.37:g.245766029C>G	ENSP00000385545:p.Gln501Glu	164	0		315	29	NM_018012	0	0	0	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	5.162	0.215377	0.09810	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.74002	-0.8;-0.8	5.43	4.51	0.55191	Kinesin, motor domain (4);	.	.	.	.	T	0.68751	0.3035	N	0.17723	0.515	0.43238	D	0.995143	D;P	0.56521	0.976;0.834	P;P	0.56563	0.801;0.765	T	0.65446	-0.6166	9	0.02654	T	1	.	15.7997	0.78443	0.1374:0.8626:0.0:0.0	.	120;501	B7WPD9;Q2KJY2	.;KI26B_HUMAN	E	501;120;117	ENSP00000385545:Q501E;ENSP00000355475:Q120E	ENSP00000355475:Q120E	Q	+	1	0	KIF26B	243832652	0.999000	0.42202	0.992000	0.48379	0.991000	0.79684	3.173000	0.50839	1.401000	0.46761	0.655000	0.94253	CAG	.		0.502	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
KIF26B	55083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	245849362	245849362	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:245849362C>A	ENST00000407071.2	+	12	3517	c.3077C>A	c.(3076-3078)cCg>cAg	p.P1026Q	KIF26B_ENST00000366518.4_Missense_Mutation_p.P645Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1026					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGAGCGTCCCGGGCAGCAGT	0.701																																					p.P1026Q		.											.	KIF26B-25	0			c.C3077A						.						8.0	13.0	11.0					1																	245849362		2074	4165	6239	SO:0001583	missense	55083	exon12			GCGTCCCGGGCAG	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3077C>A	1.37:g.245849362C>A	ENSP00000385545:p.Pro1026Gln	12	0		181	77	NM_018012	0	0	0	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900013	0.52227	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76839	-1.05;-1.05	5.77	5.77	0.91146	.	.	.	.	.	D	0.85626	0.5740	M	0.77103	2.36	0.41164	D	0.986119	D;D	0.59767	0.986;0.986	P;P	0.55112	0.769;0.689	D	0.83429	0.0037	9	0.29301	T	0.29	.	19.9961	0.97386	0.0:1.0:0.0:0.0	.	645;1026	B7WPD9;Q2KJY2	.;KI26B_HUMAN	Q	1026;645;642	ENSP00000385545:P1026Q;ENSP00000355475:P645Q	ENSP00000355475:P645Q	P	+	2	0	KIF26B	243915985	0.958000	0.32768	0.993000	0.49108	0.373000	0.29922	2.312000	0.43726	2.744000	0.94065	0.561000	0.74099	CCG	.		0.701	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
KIF26B	55083	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	245849536	245849536	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:245849536C>A	ENST00000407071.2	+	12	3691	c.3251C>A	c.(3250-3252)tCt>tAt	p.S1084Y	KIF26B_ENST00000366518.4_Missense_Mutation_p.S703Y	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1084					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCACCCAGCTCTCCTTCCCAG	0.657																																					p.S1084Y		.											.	KIF26B-25	0			c.C3251A						.						46.0	53.0	51.0					1																	245849536		1957	4158	6115	SO:0001583	missense	55083	exon12			CCAGCTCTCCTTC	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3251C>A	1.37:g.245849536C>A	ENSP00000385545:p.Ser1084Tyr	171	1		366	208	NM_018012	0	0	0	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101042	0.76983	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.80566	-1.39;-1.38	5.77	5.77	0.91146	.	.	.	.	.	D	0.90321	0.6972	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	D	0.90542	0.4503	9	0.72032	D	0.01	.	19.9961	0.97386	0.0:1.0:0.0:0.0	.	703;1084	B7WPD9;Q2KJY2	.;KI26B_HUMAN	Y	1084;703;700	ENSP00000385545:S1084Y;ENSP00000355475:S703Y	ENSP00000355475:S703Y	S	+	2	0	KIF26B	243916159	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.800000	0.69108	2.744000	0.94065	0.561000	0.74099	TCT	.		0.657	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
OR2C3	81472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	247694914	247694914	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:247694914G>C	ENST00000366487.3	-	2	1261	c.900C>G	c.(898-900)agC>agG	p.S300R	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCCGGAGGGCGCTCTTCACCT	0.522																																					p.S300R		.											.	OR2C3-70	0			c.C900G						.						75.0	67.0	70.0					1																	247694914		2203	4300	6503	SO:0001583	missense	81472	exon2			GAGGGCGCTCTTC	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.900C>G	1.37:g.247694914G>C	ENSP00000355443:p.Ser300Arg	121	0		274	83	NM_198074	0	0	0	0	0	Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112977	0.20795	.	.	ENSG00000196242	ENST00000366487	T	0.35236	1.32	3.84	-3.66	0.04489	.	1.964860	0.03266	U	0.183991	T	0.17450	0.0419	N	0.11698	0.16	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09907	-1.0653	10	0.45353	T	0.12	.	0.3858	0.00402	0.3498:0.1483:0.2783:0.2236	.	300	Q8N628	OR2C3_HUMAN	R	300	ENSP00000355443:S300R	ENSP00000355443:S300R	S	-	3	2	OR2C3	245761537	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-3.107000	0.00601	-0.783000	0.04534	-0.320000	0.08662	AGC	.		0.522	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074	
OR2G3	81469	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	247769018	247769018	+	Missense_Mutation	SNP	C	C	A	rs200831993		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:247769018C>A	ENST00000320002.2	+	1	163	c.131C>A	c.(130-132)aCc>aAc	p.T44N	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGAAACTTCACCATAATCATC	0.448																																					p.T44N		.											.	OR2G3-68	0			c.C131A						.						251.0	252.0	251.0					1																	247769018		2203	4300	6503	SO:0001583	missense	81469	exon1			ACTTCACCATAAT	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.131C>A	1.37:g.247769018C>A	ENSP00000326301:p.Thr44Asn	123	2		208	54	NM_001001914	0	0	0	0	0	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457390	0.43634	.	.	ENSG00000177476	ENST00000320002	T	0.01092	5.35	3.79	0.527	0.17084	GPCR, rhodopsin-like superfamily (1);	0.410513	0.17450	U	0.173840	T	0.04543	0.0124	M	0.91406	3.205	0.09310	N	1	P	0.49090	0.919	P	0.53861	0.736	T	0.14448	-1.0472	10	0.62326	D	0.03	.	4.4286	0.11517	0.0:0.4871:0.2889:0.224	.	44	Q8NGZ4	OR2G3_HUMAN	N	44	ENSP00000326301:T44N	ENSP00000326301:T44N	T	+	2	0	OR2G3	245835641	0.000000	0.05858	0.082000	0.20525	0.017000	0.09413	-0.985000	0.03751	0.384000	0.24942	0.486000	0.48141	ACC	C|0.999;A|0.001		0.448	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1		
OR2G3	81469	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	247769252	247769252	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:247769252G>A	ENST00000320002.2	+	1	397	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCCTTGGATCGGTACATTGCT	0.507																																					p.R122Q		.											.	OR2G3-68	0			c.G365A						.						237.0	209.0	219.0					1																	247769252		2203	4300	6503	SO:0001583	missense	81469	exon1			TGGATCGGTACAT	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.365G>A	1.37:g.247769252G>A	ENSP00000326301:p.Arg122Gln	222	1		379	47	NM_001001914	0	0	0	0	0	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824940	0.32237	.	.	ENSG00000177476	ENST00000320002	T	0.76968	-1.06	3.8	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.499351	0.14840	N	0.295330	T	0.81437	0.4822	H	0.96015	3.755	0.24971	N	0.991661	B	0.33748	0.423	B	0.26770	0.073	T	0.75286	-0.3371	10	0.87932	D	0	.	9.2451	0.37520	0.1514:0.0:0.8486:0.0	.	122	Q8NGZ4	OR2G3_HUMAN	Q	122	ENSP00000326301:R122Q	ENSP00000326301:R122Q	R	+	2	0	OR2G3	245835875	0.995000	0.38212	0.027000	0.17364	0.265000	0.26407	5.954000	0.70298	0.346000	0.23899	0.492000	0.49549	CGG	.		0.507	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1		
OR11L1	391189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248004443	248004443	+	Nonsense_Mutation	SNP	G	G	T	rs201677584		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248004443G>T	ENST00000355784.2	-	1	811	c.756C>A	c.(754-756)taC>taA	p.Y252*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	252						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCATGGTCCCGTAGTAGAGAG	0.493																																					p.Y252X		.											.	OR11L1-71	0			c.C756A						.						112.0	108.0	109.0					1																	248004443		2203	4300	6503	SO:0001587	stop_gained	391189	exon1			GGTCCCGTAGTAG	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.756C>A	1.37:g.248004443G>T	ENSP00000348033:p.Tyr252*	188	0		332	132	NM_001001959	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000355784.2	37	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971985	0.34754	.	.	ENSG00000197591	ENST00000355784	.	.	.	4.42	-2.58	0.06228	.	0.000000	0.31624	U	0.007340	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5527	0.50729	0.5712:0.0:0.4288:0.0	.	.	.	.	X	252	.	ENSP00000348033:Y252X	Y	-	3	2	OR11L1	246071066	0.000000	0.05858	0.108000	0.21378	0.331000	0.28603	-0.674000	0.05233	-0.581000	0.05937	-1.417000	0.01113	TAC	G|0.999;A|0.000		0.493	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959	
TRIM58	25893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	248039228	248039228	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248039228G>T	ENST00000366481.3	+	6	946	c.898G>T	c.(898-900)Gcg>Tcg	p.A300S	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	300	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCCGCCACGGCGCACCCGAG	0.547																																					p.A300S		.											.	TRIM58-96	0			c.G898T						.						62.0	60.0	61.0					1																	248039228		2203	4300	6503	SO:0001583	missense	25893	exon6			GCCACGGCGCACC	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.898G>T	1.37:g.248039228G>T	ENSP00000355437:p.Ala300Ser	59	0		127	12	NM_015431	0	0	0	0	0	Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402224	0.62288	.	.	ENSG00000162722	ENST00000366481	T	0.38887	1.11	3.95	3.95	0.45737	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000026	T	0.69115	0.3075	M	0.88031	2.925	0.80722	D	1	P	0.51147	0.942	D	0.83275	0.996	T	0.75416	-0.3325	10	0.72032	D	0.01	.	14.3286	0.66537	0.0:0.0:1.0:0.0	.	300	Q8NG06	TRI58_HUMAN	S	300	ENSP00000355437:A300S	ENSP00000355437:A300S	A	+	1	0	TRIM58	246105851	1.000000	0.71417	0.224000	0.23877	0.122000	0.20287	7.084000	0.76866	2.512000	0.84698	0.650000	0.86243	GCG	.		0.547	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	
OR2L8	391190	broad.mit.edu;bcgsc.ca	37	1	248112694	248112694	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248112694G>T	ENST00000357191.3	+	1	535	c.535G>T	c.(535-537)Gat>Tat	p.D179Y	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTTCTTCTGTGATGTCCCAGC	0.483																																					p.D179Y		.											.	OR2L8-70	0			c.G535T						.						165.0	101.0	123.0					1																	248112694		2203	4300	6503	SO:0001583	missense	391190	exon1			TTCTGTGATGTCC	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.535G>T	1.37:g.248112694G>T	ENSP00000349719:p.Asp179Tyr	112	2		209	48	NM_001001963	0	0	0	0	0	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.142075	0.57044	.	.	ENSG00000196936	ENST00000357191	T	0.00207	8.55	1.79	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34133	U	0.004227	T	0.00724	0.0024	H	0.96301	3.8	0.44711	D	0.997704	D	0.57257	0.979	D	0.64687	0.928	T	0.57213	-0.7850	10	0.87932	D	0	.	11.4637	0.50225	0.0:0.0:1.0:0.0	.	179	Q8NGY9	OR2L8_HUMAN	Y	179	ENSP00000349719:D179Y	ENSP00000349719:D179Y	D	+	1	0	OR2L8	246179317	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	4.260000	0.58835	1.005000	0.39183	0.479000	0.44913	GAT	.		0.483	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2		
OR2L8	391190	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	248113085	248113085	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248113085C>A	ENST00000357191.3	+	1	926	c.926C>A	c.(925-927)tCt>tAt	p.S309Y	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAATCTGCTCTGTGAAAATG	0.448																																					p.S309Y		.											.	OR2L8-70	0			c.C926A						.						33.0	31.0	31.0					1																	248113085		2203	4300	6503	SO:0001583	missense	391190	exon1			TCTGCTCTGTGAA	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.926C>A	1.37:g.248113085C>A	ENSP00000349719:p.Ser309Tyr	29	0		41	24	NM_001001963	0	0	0	0	0	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	4.103	0.017130	0.07959	.	.	ENSG00000196936	ENST00000357191	T	0.08102	3.13	1.8	0.832	0.18867	.	.	.	.	.	T	0.09202	0.0227	L	0.29908	0.895	0.09310	N	1	P	0.34587	0.458	P	0.45474	0.482	T	0.40590	-0.9555	9	0.39692	T	0.17	.	5.5798	0.17243	0.0:0.8146:0.0:0.1854	.	309	Q8NGY9	OR2L8_HUMAN	Y	309	ENSP00000349719:S309Y	ENSP00000349719:S309Y	S	+	2	0	OR2L8	246179708	0.000000	0.05858	0.207000	0.23584	0.118000	0.20060	-2.658000	0.00852	0.108000	0.17862	0.485000	0.47835	TCT	.		0.448	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2		
OR2L5	81466	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	1	248185406	248185406	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248185406C>G	ENST00000355281.1	+	1	157	c.157C>G	c.(157-159)Cat>Gat	p.H53D	OR2L13_ENST00000366478.2_Intron	NM_001258284.1	NP_001245213.1	Q8NG80	OR2L5_HUMAN	olfactory receptor, family 2, subfamily L, member 5	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										CTTGGACACCCATCTCCACAC	0.393																																					p.H53D		.											.	.	0			c.C157G						.																																			SO:0001583	missense	81466	exon1			GACACCCATCTCC		CCDS58068.1	1q44	2012-08-09		2004-03-10	ENSG00000197454	ENSG00000197454		"""GPCR / Class A : Olfactory receptors"""	15011	protein-coding gene	gene with protein product				OR2L11, OR2L5P			Standard	NM_001258284		Approved		uc031psy.1	Q8NG80	OTTHUMG00000040194	ENST00000355281.1:c.157C>G	1.37:g.248185406C>G	ENSP00000347428:p.His53Asp	180	0		251	84	NM_001258284	0	0	0	0	0	Q6IF04	Missense_Mutation	SNP	ENST00000355281.1	37	CCDS58068.1	.	.	.	.	.	.	.	.	.	.	.	6.502	0.460891	0.12342	.	.	ENSG00000197454	ENST00000355281	T	0.00784	5.7	2.37	2.37	0.29283	.	.	.	.	.	T	0.01092	0.0036	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.49835	-0.8897	6	0.66056	D	0.02	.	4.6672	0.12671	0.2463:0.5118:0.2418:0.0	.	.	.	.	D	53	ENSP00000347428:H53D	ENSP00000347428:H53D	H	+	1	0	OR2L5	246252029	0.000000	0.05858	0.184000	0.23157	0.643000	0.38383	-0.007000	0.12810	1.132000	0.42129	0.430000	0.28490	CAT	.		0.393	OR2L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096851.1		
OR2L2	26246	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248201688	248201688	+	Missense_Mutation	SNP	G	G	T	rs553489526	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248201688G>T	ENST00000366479.2	+	1	215	c.119G>T	c.(118-120)gGa>gTa	p.G40V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCTCTAATTGGAAATCTATCC	0.383																																					p.G40V		.											.	OR2L2-70	0			c.G119T						.						231.0	220.0	224.0					1																	248201688		2203	4300	6503	SO:0001583	missense	26246	exon1			TAATTGGAAATCT	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.119G>T	1.37:g.248201688G>T	ENSP00000355435:p.Gly40Val	187	0		259	34	NM_001004686	0	0	0	0	0	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	14.37	2.515544	0.44763	.	.	ENSG00000203663	ENST00000366479	T	0.56103	0.48	2.09	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66733	0.2819	H	0.94503	3.545	0.50171	D	0.99985	P	0.44816	0.844	P	0.45856	0.495	T	0.75986	-0.3124	9	0.87932	D	0	.	10.9157	0.47135	0.0:0.0:1.0:0.0	.	40	Q8NH16	OR2L2_HUMAN	V	40	ENSP00000355435:G40V	ENSP00000355435:G40V	G	+	2	0	OR2L2	246268311	0.024000	0.19004	0.234000	0.24042	0.331000	0.28603	0.301000	0.19174	1.016000	0.39470	0.194000	0.17425	GGA	.		0.383	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686	
OR2L3	391192	broad.mit.edu	37	1	248224518	248224518	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248224518G>T	ENST00000359959.3	+	1	535	c.535G>T	c.(535-537)Gat>Tat	p.D179Y	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTCTTCTGTGATGTCCCAGC	0.478																																					p.D179Y		.											.	OR2L3-68	0			c.G535T						.						110.0	141.0	131.0					1																	248224518		2203	4300	6503	SO:0001583	missense	391192	exon1			TTCTGTGATGTCC	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.535G>T	1.37:g.248224518G>T	ENSP00000353044:p.Asp179Tyr	264	2		531	37	NM_001004687	0	0	0	0	0	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449910	0.43531	.	.	ENSG00000198128	ENST00000359959	T	0.00207	8.55	2.05	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34133	U	0.004227	T	0.00608	0.0020	M	0.93763	3.455	0.36930	D	0.891858	D	0.57257	0.979	D	0.64687	0.928	T	0.59958	-0.7356	10	0.87932	D	0	.	8.2158	0.31509	0.133:0.0:0.867:0.0	.	179	Q8NG85	OR2L3_HUMAN	Y	179	ENSP00000353044:D179Y	ENSP00000353044:D179Y	D	+	1	0	OR2L3	246291141	1.000000	0.71417	0.074000	0.20217	0.026000	0.11368	6.885000	0.75606	0.175000	0.19841	0.462000	0.41574	GAT	.		0.478	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687	
OR2L13	284521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248263017	248263017	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248263017C>A	ENST00000358120.2	+	2	485	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	OR2L13_ENST00000366478.2_Missense_Mutation_p.L114M			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AGGCTTACTCCTGACCTCCAT	0.507																																					p.L114M		.											.	OR2L13-70	0			c.C340A						.						238.0	218.0	225.0					1																	248263017		2203	4300	6503	SO:0001583	missense	284521	exon3			TTACTCCTGACCT	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.340C>A	1.37:g.248263017C>A	ENSP00000350836:p.Leu114Met	91	0		174	29	NM_175911	0	0	0	0	0	Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634689	0.29068	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.05081	3.5;3.5	4.07	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35466	N	0.003193	T	0.27313	0.0670	M	0.91612	3.225	0.19300	N	0.999971	D	0.76494	0.999	D	0.87578	0.998	T	0.06807	-1.0806	10	0.87932	D	0	.	8.3867	0.32505	0.0:0.7854:0.0:0.2146	.	114	Q8N349	OR2LD_HUMAN	M	114	ENSP00000355434:L114M;ENSP00000350836:L114M	ENSP00000350836:L114M	L	+	1	2	OR2L13	246329640	0.003000	0.15002	0.002000	0.10522	0.179000	0.23085	-0.027000	0.12371	0.274000	0.22072	0.650000	0.86243	CTG	.		0.507	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
OR2L13	284521	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	248263390	248263390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248263390delC	ENST00000358120.2	+	2	858	c.713delC	c.(712-714)accfs	p.T239fs	OR2L13_ENST00000366478.2_Frame_Shift_Del_p.T239fs			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AAGGCCTTCACCACCATTTCA	0.448																																					p.T238fs		.											.	OR2L13-70	0			c.713delC						.						143.0	138.0	140.0					1																	248263390		2203	4300	6503	SO:0001589	frameshift_variant	284521	exon3			CCTTCACCACCAT	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.713delC	1.37:g.248263390delC	ENSP00000350836:p.Thr239fs	98	0		154	83	NM_175911	0	0	0	0	0	Q5VUR5	Frame_Shift_Del	DEL	ENST00000358120.2	37	CCDS1637.1																																																																																			.		0.448	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
OR2L13	284521	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248263394	248263394	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248263394C>G	ENST00000358120.2	+	2	862	c.717C>G	c.(715-717)acC>acG	p.T239T	OR2L13_ENST00000366478.2_Silent_p.T239T			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCTTCACCACCATTTCAACAC	0.453																																					p.T239T		.											.	OR2L13-70	0			c.C717G						.						144.0	139.0	141.0					1																	248263394		2203	4300	6503	SO:0001819	synonymous_variant	284521	exon3			CACCACCATTTCA	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.717C>G	1.37:g.248263394C>G		95	0		157	38	NM_175911	0	0	0	0	0	Q5VUR5	Silent	SNP	ENST00000358120.2	37	CCDS1637.1																																																																																			.		0.453	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
OR2M5	127059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248308676	248308676	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248308676C>A	ENST00000366476.1	+	1	227	c.227C>A	c.(226-228)tCt>tAt	p.S76Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCATCTGCTCTACCGTACCC	0.498																																					p.S76Y		.											.	OR2M5-71	0			c.C227A						.						363.0	341.0	348.0					1																	248308676		2203	4300	6503	SO:0001583	missense	127059	exon1			TCTGCTCTACCGT		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.227C>A	1.37:g.248308676C>A	ENSP00000355432:p.Ser76Tyr	285	0		463	57	NM_001004690	0	0	0	0	0		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	2.862	-0.235877	0.05944	.	.	ENSG00000162727	ENST00000366476	T	0.00408	7.54	3.28	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32987	U	0.005412	T	0.00412	0.0013	M	0.76838	2.35	0.09310	N	1	B	0.14438	0.01	B	0.23150	0.044	T	0.47032	-0.9148	10	0.87932	D	0	.	4.0213	0.09667	0.0:0.4953:0.1837:0.3209	.	76	A3KFT3	OR2M5_HUMAN	Y	76	ENSP00000355432:S76Y	ENSP00000355432:S76Y	S	+	2	0	OR2M5	246375299	0.000000	0.05858	0.006000	0.13384	0.206000	0.24218	-0.669000	0.05262	0.471000	0.27319	0.492000	0.49549	TCT	.		0.498	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690	
OR2M2	391194	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248343672	248343672	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248343672C>G	ENST00000359682.2	+	1	385	c.385C>G	c.(385-387)Cct>Gct	p.P129A		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TATTTGCCACCCTCTAAGATA	0.403																																					p.P129A		.											.	OR2M2-72	0			c.C385G						.						216.0	225.0	222.0					1																	248343672		2203	4300	6503	SO:0001583	missense	391194	exon1			TGCCACCCTCTAA	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.385C>G	1.37:g.248343672C>G	ENSP00000352710:p.Pro129Ala	174	1		233	46	NM_001004688	0	0	0	0	0	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.710169	0.48517	.	.	ENSG00000198601	ENST00000359682	T	0.01838	4.61	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30820	U	0.008802	T	0.12689	0.0308	H	0.98664	4.295	0.31437	N	0.672446	D	0.54964	0.969	P	0.48770	0.589	T	0.44997	-0.9291	10	0.87932	D	0	.	11.6433	0.51246	0.0:1.0:0.0:0.0	.	129	Q96R28	OR2M2_HUMAN	A	129	ENSP00000352710:P129A	ENSP00000352710:P129A	P	+	1	0	OR2M2	246410295	0.995000	0.38212	0.004000	0.12327	0.008000	0.06430	5.555000	0.67301	1.056000	0.40484	0.454000	0.30748	CCT	.		0.403	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
OR2M3	127062	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	248366445	248366445	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248366445T>A	ENST00000456743.1	+	1	114	c.76T>A	c.(76-78)Ttc>Atc	p.F26I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACCCACACCTTCCTCTTCTT	0.507																																					p.F26I		.											.	OR2M3-70	0			c.T76A						.						203.0	209.0	207.0					1																	248366445		2203	4298	6501	SO:0001583	missense	127062	exon1			CACACCTTCCTCT		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.76T>A	1.37:g.248366445T>A	ENSP00000389625:p.Phe26Ile	362	1		615	160	NM_001004689	0	0	0	0	0	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209310	0.58343	.	.	ENSG00000228198	ENST00000456743	T	0.02709	4.19	2.61	-0.227	0.13102	.	0.000000	0.33534	U	0.004810	T	0.02610	0.0079	L	0.35414	1.06	0.09310	N	1	P	0.35872	0.525	B	0.40066	0.318	T	0.40924	-0.9537	10	0.51188	T	0.08	.	4.4979	0.11848	0.0:0.2268:0.1704:0.6029	.	26	Q8NG83	OR2M3_HUMAN	I	26	ENSP00000389625:F26I	ENSP00000389625:F26I	F	+	1	0	OR2M3	246433068	0.000000	0.05858	0.005000	0.12908	0.679000	0.39708	0.047000	0.14056	0.250000	0.21479	0.327000	0.21459	TTC	.		0.507	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689	
OR2M3	127062	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	248366542	248366542	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248366542C>G	ENST00000456743.1	+	1	211	c.173C>G	c.(172-174)cCc>cGc	p.P58R		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCCACACCCCCATGTACCTC	0.547																																					p.P58R		.											.	OR2M3-70	0			c.C173G						.						348.0	323.0	332.0					1																	248366542		2203	4300	6503	SO:0001583	missense	127062	exon1			ACACCCCCATGTA		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.173C>G	1.37:g.248366542C>G	ENSP00000389625:p.Pro58Arg	296	1		494	146	NM_001004689	0	0	0	0	0	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283233	0.40394	.	.	ENSG00000228198	ENST00000456743	T	0.25749	1.78	2.44	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.267717	0.19771	U	0.106427	T	0.67316	0.2880	H	0.99444	4.57	0.34002	D	0.650464	D	0.76494	0.999	D	0.71184	0.972	D	0.84745	0.0753	10	0.87932	D	0	.	12.8724	0.57972	0.0:1.0:0.0:0.0	.	58	Q8NG83	OR2M3_HUMAN	R	58	ENSP00000389625:P58R	ENSP00000389625:P58R	P	+	2	0	OR2M3	246433165	0.733000	0.28132	0.924000	0.36721	0.209000	0.24338	4.106000	0.57804	1.361000	0.45981	0.405000	0.27470	CCC	.		0.547	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689	
OR2M4	26245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248402254	248402254	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248402254C>T	ENST00000306687.1	+	1	24	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	8					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)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCAGACCTTCAACTCCATCT	0.423																																					p.F8F		.											.	OR2M4-113	0			c.C24T						.						108.0	105.0	106.0					1																	248402254		2203	4300	6503	SO:0001819	synonymous_variant	26245	exon1			GACCTTCAACTCC	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.24C>T	1.37:g.248402254C>T		167	0		305	153	NM_017504	0	0	0	0	0	Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	CCDS31108.1																																																																																			.		0.423	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
OR2T12	127064	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	248458292	248458292	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248458292T>A	ENST00000317996.1	-	1	588	c.589A>T	c.(589-591)Atg>Ttg	p.M197L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CAGATGTACATGGCGTTTTCG	0.532																																					p.M197L		.											.	OR2T12-71	0			c.A589T						.						70.0	54.0	60.0					1																	248458292		2201	4295	6496	SO:0001583	missense	127064	exon1			TGTACATGGCGTT	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.589A>T	1.37:g.248458292T>A	ENSP00000324583:p.Met197Leu	807	0		1588	190	NM_001004692	0	0	0	0	0		Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	t	5.496	0.276520	0.10403	.	.	ENSG00000177201	ENST00000317996	T	0.00024	8.98	1.55	0.0327	0.14176	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000672	T	0.00073	0.0002	N	0.02736	-0.51	0.09310	N	1	B	0.26120	0.142	B	0.38683	0.279	T	0.05733	-1.0867	10	0.25751	T	0.34	.	4.9569	0.14046	0.0:0.3473:0.0:0.6527	.	197	Q8NG77	O2T12_HUMAN	L	197	ENSP00000324583:M197L	ENSP00000324583:M197L	M	-	1	0	OR2T12	246524915	0.000000	0.05858	0.009000	0.14445	0.209000	0.24338	-2.790000	0.00767	-0.313000	0.08728	-1.522000	0.00932	ATG	.		0.532	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692	
OR14C36	127066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248512583	248512583	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248512583C>A	ENST00000317861.1	+	1	507	c.507C>A	c.(505-507)tcC>tcA	p.S169S		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	169						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)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCTGTCGGTCCAACGTTATTC	0.512																																					p.S169S		.											.	OR14C36-48	0			c.C507A						.						149.0	129.0	136.0					1																	248512583		2203	4300	6503	SO:0001819	synonymous_variant	127066	exon1			TCGGTCCAACGTT	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.507C>A	1.37:g.248512583C>A		85	0		119	57	NM_001001918	0	0	0	0	0	Q6IEZ6	Silent	SNP	ENST00000317861.1	37	CCDS31112.1																																																																																			.		0.512	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918	
OR2T4	127074	ucsc.edu;bcgsc.ca	37	1	248525752	248525752	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248525752C>A	ENST00000366475.1	+	1	870	c.870C>A	c.(868-870)acC>acA	p.T290T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	290						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)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATCTACACCTACATGCTCC	0.532																																					p.T290T		.											.	OR2T4-68	0			c.C870A						.						160.0	155.0	157.0					1																	248525752		2203	4300	6503	SO:0001819	synonymous_variant	127074	exon1			CTACACCTACATG	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.870C>A	1.37:g.248525752C>A		914	3		1467	580	NM_001004696	0	0	0	0	0	Q6IEZ8	Silent	SNP	ENST00000366475.1	37	CCDS31113.1																																																																																			.		0.532	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
OR2T6	254879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248551108	248551108	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248551108T>A	ENST00000355728.2	+	1	199	c.199T>A	c.(199-201)Tcc>Acc	p.S67T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCCACCTCTCCGTCATTGA	0.498																																					p.S67T		.											.	OR2T6-71	0			c.T199A						.						219.0	169.0	186.0					1																	248551108		2203	4300	6503	SO:0001583	missense	254879	exon1			CACCTCTCCGTCA	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.199T>A	1.37:g.248551108T>A	ENSP00000347965:p.Ser67Thr	219	0		345	186	NM_001005471	0	0	0	0	0	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.606067	0.46527	.	.	ENSG00000198104	ENST00000355728	T	0.11930	2.73	4.38	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000460	T	0.53222	0.1783	H	0.99435	4.565	0.27980	N	0.936071	D	0.89917	1.0	D	0.74348	0.983	T	0.61554	-0.7039	10	0.87932	D	0	.	10.3674	0.44033	0.0:0.0:0.2357:0.7643	.	67	Q8NHC8	OR2T6_HUMAN	T	67	ENSP00000347965:S67T	ENSP00000347965:S67T	S	+	1	0	OR2T6	246617731	0.000000	0.05858	0.979000	0.43373	0.515000	0.34225	-0.377000	0.07456	1.962000	0.57031	0.523000	0.50628	TCC	.		0.498	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471	
OR2T6	254879	ucsc.edu;bcgsc.ca	37	1	248551631	248551631	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248551631G>T	ENST00000355728.2	+	1	722	c.722G>T	c.(721-723)tGc>tTc	p.C241F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTGCCACCTGCTCTTCACAC	0.502																																					p.C241F		.											.	OR2T6-71	0			c.G722T						.						265.0	223.0	237.0					1																	248551631		2203	4300	6503	SO:0001583	missense	254879	exon1			CCACCTGCTCTTC	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.722G>T	1.37:g.248551631G>T	ENSP00000347965:p.Cys241Phe	207	2		324	81	NM_001005471	0	0	0	0	0	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390182	0.42410	.	.	ENSG00000198104	ENST00000355728	T	0.00368	7.75	4.02	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	T	0.01627	0.0052	H	0.96604	3.85	0.45216	D	0.998222	D	0.89917	1.0	D	0.75484	0.986	T	0.33954	-0.9848	10	0.87932	D	0	.	13.4624	0.61235	0.0:0.159:0.841:0.0	.	241	Q8NHC8	OR2T6_HUMAN	F	241	ENSP00000347965:C241F	ENSP00000347965:C241F	C	+	2	0	OR2T6	246618254	1.000000	0.71417	0.780000	0.31762	0.565000	0.35776	8.330000	0.90019	0.999000	0.39023	0.643000	0.83706	TGC	.		0.502	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471	
OR2T1	26696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248569879	248569879	+	Missense_Mutation	SNP	T	T	C	rs138350213	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248569879T>C	ENST00000366474.1	+	1	584	c.584T>C	c.(583-585)aTa>aCa	p.I195T		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATGATTATAGCAGGTTCC	0.537													.|||	13	0.00259585	0.0	0.0187	5008	,	,		19917	0.0		0.0	False		,,,				2504	0.0				p.I195T		.											.	OR2T1-69	0			c.T584C						.	T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	96.0	94.0	95.0		584	1.2	0.0	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR2T1	NM_030904.1	89	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	possibly-damaging	195/370	248569879	2,13004	2203	4300	6503	SO:0001583	missense	26696	exon1			TGATTATAGCAGG	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.584T>C	1.37:g.248569879T>C	ENSP00000355430:p.Ile195Thr	139	0		248	107	NM_030904	0	0	0	0	0	Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	CCDS31115.1	4	0.0018315018315018315	0	0.0	4	0.011049723756906077	0	0.0	0	0.0	t	11.54	1.668079	0.29604	2.27E-4	1.16E-4	ENSG00000175143	ENST00000366474	T	0.43688	0.94	4.84	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	U	0.000884	T	0.25005	0.0607	N	0.25426	0.745	0.09310	N	1	P	0.42161	0.772	P	0.49192	0.602	T	0.14476	-1.0471	10	0.18276	T	0.48	.	7.6734	0.28471	0.0:0.2618:0.0:0.7382	.	195	O43869	OR2T1_HUMAN	T	195	ENSP00000355430:I195T	ENSP00000355430:I195T	I	+	2	0	OR2T1	246636502	0.000000	0.05858	0.019000	0.16419	0.992000	0.81027	0.152000	0.16302	0.350000	0.24002	0.528000	0.53228	ATA	T|0.999;C|0.001		0.537	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2		
OR2T2	401992	broad.mit.edu;bcgsc.ca	37	1	248616364	248616364	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248616364A>T	ENST00000342927.3	+	1	288	c.266A>T	c.(265-267)aAg>aTg	p.K89M		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCTGTCCAAGGACAAGACC	0.522																																					p.K89M		.											.	OR2T2-23	0			c.A266T						.						179.0	213.0	201.0					1																	248616364		2203	4300	6503	SO:0001583	missense	401992	exon1			TGTCCAAGGACAA	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.266A>T	1.37:g.248616364A>T	ENSP00000343062:p.Lys89Met	1715	2		2474	164	NM_001004136	0	0	0	0	0	B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	a	13.57	2.276757	0.40294	.	.	ENSG00000196240	ENST00000342927	T	0.03181	4.02	3.34	2.13	0.27403	GPCR, rhodopsin-like superfamily (1);	0.399810	0.21275	N	0.077244	T	0.04363	0.0120	L	0.48935	1.535	0.09310	N	1	P	0.43287	0.802	B	0.41764	0.366	T	0.32587	-0.9901	10	0.87932	D	0	.	6.0905	0.19991	0.7717:0.0:0.2283:0.0	.	89	Q6IF00	OR2T2_HUMAN	M	89	ENSP00000343062:K89M	ENSP00000343062:K89M	K	+	2	0	OR2T2	246682987	0.000000	0.05858	0.191000	0.23289	0.901000	0.52897	0.026000	0.13599	1.373000	0.46208	0.248000	0.18094	AAG	.		0.522	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136	
OR2T10	127069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248756309	248756309	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248756309G>A	ENST00000330500.2	-	1	791	c.761C>T	c.(760-762)gCt>gTt	p.A254V	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAAATAGCAGCTCCATAGAA	0.458																																					p.A254V		.											.	OR2T10-69	0			c.C761T						.						67.0	69.0	68.0					1																	248756309		2050	4236	6286	SO:0001583	missense	127069	exon1			ATAGCAGCTCCAT		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.761C>T	1.37:g.248756309G>A	ENSP00000329210:p.Ala254Val	202	0		256	39	NM_001004693	0	0	0	0	0	B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	10.64	1.407260	0.25378	.	.	ENSG00000184022	ENST00000330500	T	0.00179	8.61	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.81802	2.56	0.09310	N	1	P	0.50369	0.934	P	0.59643	0.861	T	0.42207	-0.9465	9	0.87932	D	0	.	11.4637	0.50225	0.0:0.0:1.0:0.0	.	254	Q8NGZ9	O2T10_HUMAN	V	254	ENSP00000329210:A254V	ENSP00000329210:A254V	A	-	2	0	OR2T10	246822932	0.010000	0.17322	0.002000	0.10522	0.016000	0.09150	1.677000	0.37576	1.123000	0.41961	0.447000	0.29281	GCT	.		0.458	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693	
OR2T10	127069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	248756494	248756494	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248756494G>T	ENST00000330500.2	-	1	606	c.576C>A	c.(574-576)acC>acA	p.T192T	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTAAAGTGAGGTGTCTGAGC	0.468																																					p.T192T		.											.	OR2T10-69	0			c.C576A						.						78.0	84.0	82.0					1																	248756494		2042	4241	6283	SO:0001819	synonymous_variant	127069	exon1			AAGTGAGGTGTCT		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.576C>A	1.37:g.248756494G>T		343	1		392	246	NM_001004693	0	0	0	0	0	B2RNK7	Silent	SNP	ENST00000330500.2	37	CCDS31121.1																																																																																			.		0.468	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693	
OR2T10	127069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248756527	248756527	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248756527G>T	ENST00000330500.2	-	1	573	c.543C>A	c.(541-543)gtC>gtA	p.V181V	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAACAGCAGGGACCTCACAGA	0.493																																					p.V181V		.											.	OR2T10-69	0			c.C543A						.						84.0	92.0	90.0					1																	248756527		2042	4237	6279	SO:0001819	synonymous_variant	127069	exon1			AGCAGGGACCTCA		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.543C>A	1.37:g.248756527G>T		375	0		441	74	NM_001004693	0	0	0	0	0	B2RNK7	Silent	SNP	ENST00000330500.2	37	CCDS31121.1																																																																																			.		0.493	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693	
OR2T10	127069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	248756878	248756878	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248756878G>T	ENST00000330500.2	-	1	222	c.192C>A	c.(190-192)aaC>aaA	p.N64K	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N64K(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGAGAGCTGGTTTATAAAGA	0.423																																					p.N64K		.											.	OR2T10-69	1	Substitution - Missense(1)	large_intestine(1)	c.C192A						.						79.0	89.0	86.0					1																	248756878		2049	4236	6285	SO:0001583	missense	127069	exon1			GAGCTGGTTTATA		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.192C>A	1.37:g.248756878G>T	ENSP00000329210:p.Asn64Lys	266	1		281	153	NM_001004693	0	0	0	0	0	B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	8.329	0.825977	0.16749	.	.	ENSG00000184022	ENST00000330500	T	0.00388	7.59	2.34	-0.0309	0.13912	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.02802	-0.49	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.37079	-0.9721	9	0.87932	D	0	.	2.2657	0.04078	0.3362:0.0:0.279:0.3848	.	64	Q8NGZ9	O2T10_HUMAN	K	64	ENSP00000329210:N64K	ENSP00000329210:N64K	N	-	3	2	OR2T10	246823501	0.000000	0.05858	0.267000	0.24556	0.909000	0.53808	-1.502000	0.02279	0.179000	0.19938	0.441000	0.28932	AAC	.		0.423	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693	
OR2T11	127077	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	248790268	248790268	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248790268G>T	ENST00000330803.2	-	1	223	c.162C>A	c.(160-162)acC>acA	p.T54T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTACATGGGGGTGTGGAGGC	0.478																																					p.T54T		.											.	OR2T11-69	0			c.C162A						.						64.0	72.0	70.0					1																	248790268		2051	4235	6286	SO:0001819	synonymous_variant	127077	exon1			CATGGGGGTGTGG	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.162C>A	1.37:g.248790268G>T		158	1		240	115	NM_001001964	0	0	0	0	0	Q6IEY6	Silent	SNP	ENST00000330803.2	37	CCDS31122.1																																																																																			.		0.478	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964	
OR2T11	127077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	248790331	248790331	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:248790331C>A	ENST00000330803.2	-	1	160	c.99G>T	c.(97-99)ttG>ttT	p.L33F		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACGGCCCCCAAGAAAACAG	0.507																																					p.L33F		.											.	OR2T11-69	0			c.G99T						.						60.0	70.0	67.0					1																	248790331		2049	4237	6286	SO:0001583	missense	127077	exon1			GGCCCCCAAGAAA	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.99G>T	1.37:g.248790331C>A	ENSP00000328934:p.Leu33Phe	135	0		196	27	NM_001001964	0	0	0	0	0	Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	4.525	0.097423	0.08681	.	.	ENSG00000183130	ENST00000330803	T	0.17213	2.29	4.62	-1.73	0.08081	.	0.639093	0.12831	N	0.435619	T	0.13670	0.0331	M	0.66378	2.025	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33828	-0.9853	10	0.25106	T	0.35	.	2.5203	0.04678	0.1172:0.385:0.1151:0.3826	.	33	Q8NH01	O2T11_HUMAN	F	33	ENSP00000328934:L33F	ENSP00000328934:L33F	L	-	3	2	OR2T11	246856954	0.000000	0.05858	0.009000	0.14445	0.000000	0.00434	-3.118000	0.00596	-0.605000	0.05753	-1.728000	0.00702	TTG	.		0.507	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964	
AKR1C4	1109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	5254964	5254964	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:5254964C>A	ENST00000380448.1	+	9	941	c.688C>A	c.(688-690)Cca>Aca	p.P230T	AKR1C4_ENST00000263126.1_Missense_Mutation_p.P230T			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	230					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						CAGGGTGGACCCAAACTCCCC	0.517																																					p.P230T		.											.	AKR1C4-91	0			c.C688A						.						41.0	40.0	40.0					10																	5254964		2203	4300	6503	SO:0001583	missense	1109	exon7			GTGGACCCAAACT	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.688C>A	10.37:g.5254964C>A	ENSP00000369814:p.Pro230Thr	169	0		224	81	NM_001818	0	0	0	0	0	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	C	0.231	-1.021267	0.02061	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.23950	1.88;1.88	3.26	1.26	0.21427	NADP-dependent oxidoreductase domain (3);	0.848152	0.10233	N	0.699383	T	0.21962	0.0529	L	0.47016	1.485	0.09310	N	1	B	0.11235	0.004	B	0.21360	0.034	T	0.30534	-0.9975	10	0.59425	D	0.04	.	5.6159	0.17430	0.0:0.6688:0.205:0.1262	.	230	P17516	AK1C4_HUMAN	T	230	ENSP00000369814:P230T;ENSP00000263126:P230T	ENSP00000263126:P230T	P	+	1	0	AKR1C4	5244964	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	-0.493000	0.06459	0.295000	0.22570	0.313000	0.20887	CCA	.		0.517	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818	
PRKCQ	5588	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	6521128	6521128	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:6521128C>A	ENST00000263125.5	-	12	1279		c.e12-1		PRKCQ_ENST00000539722.1_Splice_Site|PRKCQ_ENST00000397176.2_Splice_Site	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CCAGGAAGACCTAGAAGGAGA	0.403																																					.	Ovarian(50;572 1126 10530 25349 30594)	.											.	PRKCQ-1380	0			c.1180-1G>T						.						119.0	109.0	112.0					10																	6521128		2203	4300	6503	SO:0001630	splice_region_variant	5588	exon13			GAAGACCTAGAAG	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1180-1G>T	10.37:g.6521128C>A		114	0		138	45	NM_006257	0	0	0	0	0	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Splice_Site	SNP	ENST00000263125.5	37	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686518	0.47991	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000397178;ENST00000539722	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7576	0.88453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKCQ	6561134	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	7.666000	0.83877	2.348000	0.79779	0.591000	0.81541	.	.		0.403	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	Intron
ITIH5	80760	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	7621911	7621911	+	Missense_Mutation	SNP	G	G	C	rs371798698		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:7621911G>C	ENST00000256861.6	-	9	1303	c.1225C>G	c.(1225-1227)Ccc>Gcc	p.P409A	ITIH5_ENST00000397146.2_Missense_Mutation_p.P409A|ITIH5_ENST00000298441.6_Missense_Mutation_p.P195A|ITIH5_ENST00000446830.2_Missense_Mutation_p.P191A|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.P409A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	409	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCGACCGTGGGCTTCCCATCC	0.622																																					p.P409A		.											.	ITIH5-92	0			c.C1225G						.						112.0	99.0	103.0					10																	7621911		2203	4300	6503	SO:0001583	missense	80760	exon9			CCGTGGGCTTCCC			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1225C>G	10.37:g.7621911G>C	ENSP00000256861:p.Pro409Ala	83	1		139	50	NM_001001851	0	0	0	0	0	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	G	11.49	1.654472	0.29425	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.33	4.37	0.52481	von Willebrand factor, type A (3);	0.095605	0.85682	D	0.000000	D	0.84687	0.5527	.	.	.	0.48830	D	0.99971	P;B;B	0.36412	0.552;0.017;0.013	P;B;B	0.49528	0.614;0.036;0.021	T	0.80555	-0.1330	9	0.19590	T	0.45	-31.233	16.3836	0.83490	0.0:0.232:0.768:0.0	.	409;409;195	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	A	409;409;195;191;409	ENSP00000256861:P409A;ENSP00000380333:P409A;ENSP00000298441:P195A;ENSP00000387969:P191A;ENSP00000380332:P409A	ENSP00000256861:P409A	P	-	1	0	ITIH5	7661917	1.000000	0.71417	0.997000	0.53966	0.808000	0.45660	5.916000	0.69981	2.491000	0.84063	0.561000	0.74099	CCC	.		0.622	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
ITIH5	80760	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	7659227	7659227	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:7659227delG	ENST00000256861.6	-	6	749	c.671delC	c.(670-672)ccafs	p.P224fs	ITIH5_ENST00000397146.2_Frame_Shift_Del_p.P224fs|ITIH5_ENST00000298441.6_Frame_Shift_Del_p.P10fs|ITIH5_ENST00000446830.2_Frame_Shift_Del_p.P6fs|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Frame_Shift_Del_p.P224fs	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	224					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GACAGTAGATGGGGGAGGCCC	0.343																																					p.P224fs		.											.	ITIH5-92	0			c.671delC						.						74.0	72.0	73.0					10																	7659227		2203	4300	6503	SO:0001589	frameshift_variant	80760	exon6			GTAGATGGGGGAG			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.671delC	10.37:g.7659227delG	ENSP00000256861:p.Pro224fs	56	0		50	22	NM_001001851	0	0	0	0	0	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Frame_Shift_Del	DEL	ENST00000256861.6	37																																																																																				.		0.343	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
ITIH2	3698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	7763735	7763735	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:7763735C>A	ENST00000358415.4	+	8	1028	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	ITIH2_ENST00000379587.4_Missense_Mutation_p.L277M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	288					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGCTGGTGAACTGGAGGTGAG	0.537																																					p.L288M		.											.	ITIH2-93	0			c.C862A						.						171.0	154.0	159.0					10																	7763735		2203	4300	6503	SO:0001583	missense	3698	exon8			GGTGAACTGGAGG	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.862C>A	10.37:g.7763735C>A	ENSP00000351190:p.Leu288Met	191	0		219	76	NM_002216	0	0	0	0	0	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409828	0.42715	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.78595	-1.19;-1.19	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.88370	0.6418	M	0.84326	2.69	0.52501	D	0.999952	D	0.89917	1.0	D	0.91635	0.999	D	0.89843	0.4004	10	0.87932	D	0	-24.5914	14.2511	0.66021	0.0:0.926:0.0:0.074	.	288	P19823	ITIH2_HUMAN	M	288;277	ENSP00000351190:L288M;ENSP00000368906:L277M	ENSP00000351190:L288M	L	+	1	2	ITIH2	7803741	0.990000	0.36364	0.335000	0.25508	0.128000	0.20619	2.505000	0.45424	2.470000	0.83445	0.462000	0.41574	CTG	.		0.537	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
ATP5C1	509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	7841035	7841035	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:7841035G>C	ENST00000356708.7	+	4	385	c.306G>C	c.(304-306)ctG>ctC	p.L102L	ATP5C1_ENST00000541227.1_Silent_p.L55L|ATP5C1_ENST00000335698.4_Silent_p.L102L|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	102					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ATCGAGGACTGTGTGGTGCTA	0.423																																					p.L102L	Melanoma(143;1012 1820 16249 30920 33158)	.											.	ATP5C1-90	0			c.G306C						.						152.0	134.0	140.0					10																	7841035		2203	4300	6503	SO:0001819	synonymous_variant	509	exon4			AGGACTGTGTGGT	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.306G>C	10.37:g.7841035G>C		306	0		306	85	NM_005174	0	0	0	0	0	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Silent	SNP	ENST00000356708.7	37	CCDS31142.1																																																																																			.		0.423	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174	
UPF2	26019	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	12046670	12046670	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:12046670C>A	ENST00000356352.2	-	4	1836	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	UPF2_ENST00000357604.5_Nonsense_Mutation_p.E455*|UPF2_ENST00000397053.2_Nonsense_Mutation_p.E455*			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	455					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATACCACCTTCCAAGTCATAT	0.353																																					p.E455X		.											.	UPF2-515	0			c.G1363T						.						113.0	104.0	107.0					10																	12046670		2203	4300	6503	SO:0001587	stop_gained	26019	exon5			CACCTTCCAAGTC	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1363G>T	10.37:g.12046670C>A	ENSP00000348708:p.Glu455*	68	1		75	35	NM_080599	0	0	0	0	0	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Nonsense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	40	7.970815	0.98588	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.0304	0.92953	0.0:1.0:0.0:0.0	.	.	.	.	X	455;455;425;455;425	.	ENSP00000313617:E425X	E	-	1	0	UPF2	12086676	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.508000	0.84585	0.563000	0.77884	GAA	.		0.353	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
UCMA	221044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	13275734	13275734	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:13275734C>A	ENST00000378681.3	-	2	197		c.e2+1		UCMA_ENST00000463405.2_Intron	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated						negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CCTGCACTCACCTTCACTCGC	0.647																																					.		.											.	UCMA-90	0			c.124+1G>T						.						86.0	75.0	79.0					10																	13275734		2203	4300	6503	SO:0001630	splice_region_variant	221044	exon3			CACTCACCTTCAC	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.124+1G>T	10.37:g.13275734C>A		67	0		84	30	NM_145314	0	0	0	0	0		Splice_Site	SNP	ENST00000378681.3	37	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	C	9.437	1.087042	0.20390	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1542	0.65407	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UCMA	13315740	0.997000	0.39634	0.998000	0.56505	0.015000	0.08874	3.725000	0.54970	2.420000	0.82092	0.561000	0.74099	.	.		0.647	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314	Intron
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	16949626	16949626	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:16949626C>T	ENST00000377833.4	-	49	7651	c.7586G>A	c.(7585-7587)aGt>aAt	p.S2529N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2529	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACATTCACACTACTACACAG	0.408																																					p.S2529N		.											.	CUBN-166	0			c.G7586A						.						106.0	91.0	96.0					10																	16949626		2203	4300	6503	SO:0001583	missense	8029	exon49			TTCACACTACTAC	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7586G>A	10.37:g.16949626C>T	ENSP00000367064:p.Ser2529Asn	163	0		190	71	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	4.947	0.175866	0.09443	.	.	ENSG00000107611	ENST00000377833	T	0.28666	1.6	5.38	-0.687	0.11320	CUB (5);	0.660306	0.14055	N	0.344497	T	0.13713	0.0332	N	0.20483	0.58	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.21177	-1.0253	10	0.21540	T	0.41	.	1.8863	0.03238	0.1512:0.1837:0.1499:0.5152	.	2529	O60494	CUBN_HUMAN	N	2529	ENSP00000367064:S2529N	ENSP00000367064:S2529N	S	-	2	0	CUBN	16989632	0.014000	0.17966	0.051000	0.19133	0.555000	0.35460	0.964000	0.29306	0.024000	0.15214	0.650000	0.86243	AGT	.		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	16970184	16970184	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:16970184C>G	ENST00000377833.4	-	41	6308	c.6243G>C	c.(6241-6243)agG>agC	p.R2081S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2081	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAGCCTGCCCTGGTTACAC	0.473																																					p.R2081S		.											.	CUBN-166	0			c.G6243C						.						84.0	78.0	80.0					10																	16970184		2203	4300	6503	SO:0001583	missense	8029	exon41			GCCTGCCCTGGTT	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6243G>C	10.37:g.16970184C>G	ENSP00000367064:p.Arg2081Ser	65	0		59	32	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752250	0.15778	.	.	ENSG00000107611	ENST00000377833	T	0.33654	1.4	5.71	2.03	0.26663	CUB (5);	0.637132	0.13818	N	0.360589	T	0.15132	0.0365	N	0.05467	-0.045	0.41156	D	0.986061	B	0.20164	0.042	B	0.24394	0.053	T	0.11941	-1.0567	10	0.22109	T	0.4	.	1.778	0.03025	0.1766:0.4318:0.1058:0.2858	.	2081	O60494	CUBN_HUMAN	S	2081	ENSP00000367064:R2081S	ENSP00000367064:R2081S	R	-	3	2	CUBN	17010190	0.099000	0.21834	0.118000	0.21660	0.825000	0.46686	-0.196000	0.09532	0.546000	0.28920	0.655000	0.94253	AGG	.		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
VIM	7431	broad.mit.edu;bcgsc.ca	37	10	17275787	17275787	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:17275787G>C	ENST00000224237.5	+	4	884	c.739G>C	c.(739-741)Gct>Cct	p.A247P	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.A247P			P08670	VIME_HUMAN	vimentin	247	Linker 12.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGCTGCAGGCTCAGATTCA	0.537																																					p.A247P		.											.	VIM-291	0			c.G739C						.						82.0	74.0	77.0					10																	17275787		2203	4300	6503	SO:0001583	missense	7431	exon5			CTGCAGGCTCAGA	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.739G>C	10.37:g.17275787G>C	ENSP00000224237:p.Ala247Pro	201	3		223	82	NM_003380	0	0	0	0	0	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402287	0.62288	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.89415	-2.51;-2.51;-2.51	6.14	6.14	0.99180	Filament (1);	0.000000	0.46442	D	0.000298	D	0.91872	0.7427	M	0.81942	2.565	0.45554	D	0.998505	P;P;P;P;P	0.47910	0.663;0.612;0.902;0.902;0.663	B;B;P;P;B	0.48425	0.375;0.258;0.577;0.476;0.375	D	0.92278	0.5831	10	0.66056	D	0.02	.	16.2071	0.82135	0.0:0.1321:0.8679:0.0	.	247;234;234;247;247	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	P	247;247;234;73	ENSP00000446007:A247P;ENSP00000224237:A247P;ENSP00000391842:A73P	ENSP00000224237:A247P	A	+	1	0	VIM	17315793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.135000	0.64777	2.927000	0.99377	0.637000	0.83480	GCT	.		0.537	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380	
PTPLA	9200	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	17636354	17636354	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:17636354C>T	ENST00000361271.3	-	6	671	c.634G>A	c.(634-636)Gtt>Att	p.V212I		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	212					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GCAACTCCAACAGGATATAAG	0.328																																					p.V212I		.											.	PTPLA-226	0			c.G634A						.						50.0	50.0	50.0					10																	17636354		2203	4297	6500	SO:0001583	missense	9200	exon6			CTCCAACAGGATA	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.634G>A	10.37:g.17636354C>T	ENSP00000355308:p.Val212Ile	66	1		66	21	NM_014241	0	0	0	0	0	B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	C	6.430	0.447492	0.12223	.	.	ENSG00000165996	ENST00000361271	T	0.27720	1.65	5.72	3.84	0.44239	.	0.354955	0.30260	N	0.010039	T	0.11367	0.0277	N	0.02103	-0.685	0.80722	D	1	B	0.12013	0.005	B	0.16289	0.015	T	0.11227	-1.0596	10	0.11485	T	0.65	-28.7551	12.0173	0.53321	0.0:0.8603:0.0:0.1397	.	212	B0YJ81	HACD1_HUMAN	I	212	ENSP00000355308:V212I	ENSP00000355308:V212I	V	-	1	0	PTPLA	17676360	0.190000	0.23276	0.993000	0.49108	0.992000	0.81027	0.489000	0.22387	1.544000	0.49359	0.650000	0.86243	GTT	.		0.328	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241	
MRC1	4360	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	18138668	18138668	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:18138668C>G	ENST00000239761.3	+	7	1327	c.1224C>G	c.(1222-1224)gaC>gaG	p.D408E		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	408	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AGGAATTGGACTTTATTATCT	0.448																																					p.D408E	GBM(115;1153 1594 28187 28781 35884)	.											.	MRC1-68	0			c.C1224G						.						79.0	120.0	105.0					10																	18138668		1389	2258	3647	SO:0001583	missense	4360	exon7			ATTGGACTTTATT	J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"""CD molecules"", ""C-type lectin domain containing"""	7228	protein-coding gene	gene with protein product		153618	"""mannose receptor, C type 1-like 1"""	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.1224C>G	10.37:g.18138668C>G	ENSP00000239761:p.Asp408Glu	306	1		311	235	NM_002438	0	0	0	0	0	A5PKW3|Q5VSJ2|Q5VSK2	Missense_Mutation	SNP	ENST00000239761.3	37	CCDS7123.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150634	0.37923	.	.	ENSG00000120586	ENST00000239761	T	0.18174	2.23	4.35	3.45	0.39498	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.239315	0.27159	U	0.020647	T	0.12944	0.0314	N	0.10809	0.05	0.22446	N	0.999097	D	0.63046	0.992	P	0.58172	0.834	T	0.10132	-1.0643	10	0.02654	T	1	-16.9685	8.9869	0.35999	0.0:0.8185:0.0:0.1815	.	408	P22897	MRC1_HUMAN	E	408	ENSP00000239761:D408E	ENSP00000239761:D408E	D	+	3	2	MRC1	18178674	1.000000	0.71417	0.982000	0.44146	0.253000	0.25986	1.427000	0.34881	0.831000	0.34780	0.430000	0.28490	GAC	.		0.448	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047057.1	NM_002438	
SLC39A12	221074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	18254445	18254445	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:18254445G>T	ENST00000377369.2	+	4	850	c.577G>T	c.(577-579)Gga>Tga	p.G193*	SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.G59*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.G193*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.G193*	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	193					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GAAAAAATCTGGAATAGTGAG	0.388																																					p.G193X		.											.	SLC39A12-154	0			c.G577T						.						83.0	83.0	83.0					10																	18254445		2203	4300	6503	SO:0001587	stop_gained	221074	exon4			AAATCTGGAATAG		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.577G>T	10.37:g.18254445G>T	ENSP00000366586:p.Gly193*	62	0		49	12	NM_152725	0	0	0	0	0	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Nonsense_Mutation	SNP	ENST00000377369.2	37	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	38	6.880481	0.97904	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	.	.	.	5.72	5.72	0.89469	.	0.202680	0.46442	D	0.000295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.6852	19.8672	0.96808	0.0:0.0:1.0:0.0	.	.	.	.	X	193;193;193;59;113	.	ENSP00000366586:G193X	G	+	1	0	SLC39A12	18294451	1.000000	0.71417	0.981000	0.43875	0.366000	0.29705	6.778000	0.75043	2.715000	0.92844	0.655000	0.94253	GGA	.		0.388	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	
MSRB2	22921	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	23408289	23408289	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:23408289G>A	ENST00000376510.3	+	4	456	c.353G>A	c.(352-354)gGt>gAt	p.G118D	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	118					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GAGGCTCATGGTACGTCTGGC	0.507																																					p.G118D	Esophageal Squamous(89;1240 1363 4973 30188 42299)	.											.	MSRB2-90	0			c.G353A						.						111.0	112.0	111.0					10																	23408289		2016	4173	6189	SO:0001583	missense	22921	exon4			CTCATGGTACGTC	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.353G>A	10.37:g.23408289G>A	ENSP00000365693:p.Gly118Asp	116	0		153	54	NM_012228	0	0	0	0	0	Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726140	0.69074	.	.	ENSG00000148450	ENST00000376510	T	0.63096	-0.02	5.61	5.61	0.85477	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.047920	0.85682	N	0.000000	T	0.61850	0.2380	N	0.04508	-0.205	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.67635	-0.5620	10	0.36615	T	0.2	-16.7966	18.77	0.91888	0.0:0.0:1.0:0.0	.	118	Q9Y3D2	MSRB2_HUMAN	D	118	ENSP00000365693:G118D	ENSP00000365693:G118D	G	+	2	0	MSRB2	23448295	1.000000	0.71417	0.077000	0.20336	0.617000	0.37484	7.950000	0.87804	2.813000	0.96785	0.655000	0.94253	GGT	.		0.507	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228	
GPR158	57512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	25701255	25701255	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:25701255G>T	ENST00000376351.3	+	4	1547	c.1188G>T	c.(1186-1188)agG>agT	p.R396S		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	396					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TACCTTGCAGGGAGGGCTGCC	0.488																																					p.R396S		.											.	GPR158-141	0			c.G1188T						.						220.0	200.0	207.0					10																	25701255		2203	4300	6503	SO:0001583	missense	57512	exon4			TTGCAGGGAGGGC	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1188G>T	10.37:g.25701255G>T	ENSP00000365529:p.Arg396Ser	206	0		242	86	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472502	0.26423	.	.	ENSG00000151025	ENST00000376351	T	0.60299	0.2	6.16	0.386	0.16254	.	0.212230	0.39834	N	0.001260	T	0.35128	0.0921	N	0.19112	0.55	0.39726	D	0.97154	B	0.12630	0.006	B	0.13407	0.009	T	0.04870	-1.0921	10	0.30854	T	0.27	.	6.5768	0.22571	0.3931:0.1139:0.493:0.0	.	396	Q5T848	GP158_HUMAN	S	396	ENSP00000365529:R396S	ENSP00000365529:R396S	R	+	3	2	GPR158	25741261	1.000000	0.71417	0.989000	0.46669	0.934000	0.57294	0.700000	0.25601	-0.178000	0.10672	0.650000	0.86243	AGG	.		0.488	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
GPR158	57512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	25839904	25839904	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:25839904G>T	ENST00000376351.3	+	6	1763		c.e6-1			NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158						protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCATCCCACAGGTTGTTATTT	0.408																																					.		.											.	GPR158-141	0			c.1405-1G>T						.						199.0	172.0	181.0					10																	25839904		2203	4300	6503	SO:0001630	splice_region_variant	57512	exon6			CCCACAGGTTGTT	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1405-1G>T	10.37:g.25839904G>T		118	0		160	52	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Splice_Site	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794972	0.90453	.	.	ENSG00000151025	ENST00000376351	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR158	25879910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.148000	0.94652	2.724000	0.93272	0.650000	0.86243	.	.		0.408	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	Intron
GPR158	57512	ucsc.edu;bcgsc.ca;mdanderson.org|ucsc.edu;bcgsc.ca	37	10	25861668	25861669	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:25861668_25861669GG>AT	ENST00000376351.3	+	7	1964_1965	c.1605_1606GG>AT	c.(1603-1608)ttGGta>ttATta	p.V536L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	536					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TAATACTCTTGGTAGTGTTTTG	0.45																																					p.L535L|p.V536L		.											.	GPR158-141	0			c.G1605A|c.G1606T						.																																			SO:0001583	missense	57512	exon7			ACTCTTGGTAGTG|CTCTTGGTAGTGT	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	Exception_encountered	10.37:g.25861668_25861669delinsAT	ENSP00000365529:p.Val536Leu	203	2		233|234	71|72	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Silent|Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1																																																																																			.		0.450	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
GPR158	57512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	25885596	25885596	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:25885596C>G	ENST00000376351.3	+	10	2382	c.2023C>G	c.(2023-2025)Cga>Gga	p.R675G	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	675					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAATAACCCACGAGATGATAT	0.408																																					p.R675G		.											.	GPR158-141	0			c.C2023G						.						123.0	99.0	107.0					10																	25885596		2203	4300	6503	SO:0001583	missense	57512	exon10			AACCCACGAGATG	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2023C>G	10.37:g.25885596C>G	ENSP00000365529:p.Arg675Gly	141	0		125	41	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	c	18.44	3.623783	0.66901	.	.	ENSG00000151025	ENST00000376351	T	0.62788	-0.0	6.03	2.94	0.34122	.	0.000000	0.64402	D	0.000004	T	0.75796	0.3898	M	0.72353	2.195	0.47341	D	0.999391	D	0.76494	0.999	D	0.74674	0.984	T	0.76870	-0.2799	10	0.46703	T	0.11	.	14.0548	0.64761	0.6642:0.3358:0.0:0.0	.	675	Q5T848	GP158_HUMAN	G	675	ENSP00000365529:R675G	ENSP00000365529:R675G	R	+	1	2	GPR158	25925602	0.995000	0.38212	0.749000	0.31150	0.961000	0.63080	1.700000	0.37815	0.886000	0.36113	-0.121000	0.15023	CGA	.		0.408	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
GPR158	57512	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	25887095	25887095	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:25887095C>A	ENST00000376351.3	+	11	2899	c.2540C>A	c.(2539-2541)tCc>tAc	p.S847Y	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	847					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACAGAAAATTCCACACTGGAA	0.493																																					p.S847Y		.											.	GPR158-141	0			c.C2540A						.						106.0	117.0	113.0					10																	25887095		2203	4300	6503	SO:0001583	missense	57512	exon11			AAAATTCCACACT	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2540C>A	10.37:g.25887095C>A	ENSP00000365529:p.Ser847Tyr	169	1		152	47	NM_020752	0	0	0	0	0	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757441	0.49468	.	.	ENSG00000151025	ENST00000376351	T	0.66460	-0.21	5.79	4.87	0.63330	.	0.338755	0.25453	N	0.030565	T	0.78298	0.4261	L	0.59436	1.845	0.44816	D	0.997823	D	0.60160	0.987	D	0.64595	0.927	T	0.79883	-0.1615	10	0.56958	D	0.05	.	16.7743	0.85547	0.0:0.8709:0.129:0.0	.	847	Q5T848	GP158_HUMAN	Y	847	ENSP00000365529:S847Y	ENSP00000365529:S847Y	S	+	2	0	GPR158	25927101	1.000000	0.71417	0.011000	0.14972	0.149000	0.21700	4.623000	0.61247	1.406000	0.46857	0.650000	0.86243	TCC	.		0.493	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
MYO3A	53904	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	26459432	26459432	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:26459432A>T	ENST00000265944.5	+	29	3528	c.3362A>T	c.(3361-3363)cAg>cTg	p.Q1121L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1121					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTTCTGATCAGGAATTCGAC	0.338																																					p.Q1121L		.											.	MYO3A-1007	0			c.A3362T						.						67.0	62.0	63.0					10																	26459432		2203	4300	6503	SO:0001583	missense	53904	exon29			CTGATCAGGAATT	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3362A>T	10.37:g.26459432A>T	ENSP00000265944:p.Gln1121Leu	273	0		250	64	NM_017433	0	0	0	0	0	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	6.199	0.404855	0.11754	.	.	ENSG00000095777	ENST00000265944	T	0.77750	-1.12	5.03	2.65	0.31530	.	0.313882	0.33959	N	0.004386	T	0.60843	0.2300	L	0.29908	0.895	0.09310	N	0.999995	B	0.28439	0.212	B	0.24006	0.05	T	0.54741	-0.8248	10	0.72032	D	0.01	.	3.9723	0.09458	0.6232:0.0:0.2292:0.1477	.	1121	Q8NEV4	MYO3A_HUMAN	L	1121	ENSP00000265944:Q1121L	ENSP00000265944:Q1121L	Q	+	2	0	MYO3A	26499438	0.145000	0.22656	0.142000	0.22268	0.148000	0.21650	0.534000	0.23098	0.366000	0.24427	-0.290000	0.09829	CAG	.		0.338	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
ZEB1	6935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	31750115	31750115	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:31750115G>T	ENST00000320985.10	+	2	318	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	ZEB1_ENST00000361642.5_Missense_Mutation_p.G70W|ZEB1_ENST00000542815.3_Intron|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.G70W|ZEB1_ENST00000446923.2_Missense_Mutation_p.G53W			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	70					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGTGTTACCAGGGAGGAGCAG	0.418																																					p.G70W	Ovarian(40;423 959 14296 36701 49589)	.											.	ZEB1-518	0			c.G208T						.						113.0	83.0	93.0					10																	31750115		2203	4300	6503	SO:0001583	missense	6935	exon2			TTACCAGGGAGGA	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.208G>T	10.37:g.31750115G>T	ENSP00000319248:p.Gly70Trp	240	0		279	103	NM_001174093	0	0	0	0	0	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336426	0.81801	.	.	ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000320985;ENST00000437844;ENST00000424869;ENST00000446923	T;T;T;T	0.80033	-1.18;-1.18;-1.18;-1.33	5.6	5.6	0.85130	.	1.561240	0.03605	N	0.234036	D	0.86343	0.5910	L	0.40543	1.245	0.41139	D	0.985948	D;D;D;D;D;D	0.60575	0.988;0.979;0.979;0.969;0.973;0.979	P;P;P;P;P;P	0.54210	0.715;0.697;0.604;0.745;0.715;0.697	T	0.76000	-0.3119	10	0.66056	D	0.02	-9.3486	19.6324	0.95717	0.0:0.0:1.0:0.0	.	53;70;70;70;70;70	E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;ZEB1_HUMAN	W	70;70;70;70;70;70;53	ENSP00000354487:G70W;ENSP00000319248:G70W;ENSP00000415961:G70W;ENSP00000391612:G53W	ENSP00000319248:G70W	G	+	1	0	ZEB1	31790121	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.560000	0.82277	2.651000	0.90000	0.555000	0.69702	GGG	.		0.418	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
ANKRD30A	91074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	37422904	37422904	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:37422904G>T	ENST00000602533.1	+	5	609	c.510G>T	c.(508-510)caG>caT	p.Q170H	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q170H|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q170H|RNU6-811P_ENST00000384069.1_RNA			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	226					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q170H(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTTCTTCAGCAAAATGTTG	0.383																																					p.Q170H		.											.	ANKRD30A-161	1	Substitution - Missense(1)	lung(1)	c.G510T						.						256.0	237.0	243.0					10																	37422904		1910	4127	6037	SO:0001583	missense	91074	exon5			TCTTCAGCAAAAT	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.510G>T	10.37:g.37422904G>T	ENSP00000473551:p.Gln170His	157	0		152	66	NM_052997	0	0	0	0	0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	10.87	1.472861	0.26423	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.66460	-0.13;-0.21	1.43	-0.535	0.11879	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.74230	0.3689	M	0.76574	2.34	0.09310	N	1	D	0.55800	0.973	D	0.65323	0.934	T	0.61327	-0.7085	9	0.62326	D	0.03	.	3.5493	0.07840	0.5041:0.0:0.4959:0.0	.	226	Q9BXX3	AN30A_HUMAN	H	170	ENSP00000354432:Q170H;ENSP00000363792:Q170H	ENSP00000354432:Q170H	Q	+	3	2	ANKRD30A	37462910	0.000000	0.05858	0.005000	0.12908	0.173000	0.22820	-0.365000	0.07573	-0.018000	0.14079	0.289000	0.19496	CAG	.		0.383	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ANKRD30A	91074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	37508068	37508068	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:37508068A>G	ENST00000602533.1	+	34	3359	c.3260A>G	c.(3259-3261)aAt>aGt	p.N1087S	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.N1087S|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.N1206S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1143					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAGAAAAGAATGCTGAACTT	0.353																																					p.N1087S		.											.	ANKRD30A-161	0			c.A3260G						.						117.0	117.0	117.0					10																	37508068		1816	4066	5882	SO:0001583	missense	91074	exon34			AAAAGAATGCTGA	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3260A>G	10.37:g.37508068A>G	ENSP00000473551:p.Asn1087Ser	240	0		252	49	NM_052997	0	0	0	0	0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	a	3.725	-0.056717	0.07362	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.18174	2.23;2.23	2.64	1.33	0.21861	.	.	.	.	.	T	0.28034	0.0691	M	0.79693	2.465	0.19775	N	0.999958	P	0.47604	0.898	P	0.50192	0.634	T	0.11641	-1.0579	9	0.62326	D	0.03	.	5.3405	0.15981	0.5691:0.0:0.0:0.4309	.	1143	Q9BXX3	AN30A_HUMAN	S	1087;1206	ENSP00000354432:N1087S;ENSP00000363792:N1206S	ENSP00000354432:N1087S	N	+	2	0	ANKRD30A	37548074	1.000000	0.71417	0.568000	0.28447	0.055000	0.15305	1.158000	0.31737	1.077000	0.40990	0.234000	0.17832	AAT	.		0.353	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ZNF33A	7581	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	38305844	38305844	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:38305844G>T	ENST00000458705.2	+	3	213	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	ZNF33A_ENST00000432900.2_Missense_Mutation_p.V26L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.V19L|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000374618.3_Missense_Mutation_p.V19L|ZNF33A_ENST00000469037.2_Missense_Mutation_p.V19L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	19	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGATGTGACTGTGGGCTTCAC	0.478																																					p.V19L		.											.	ZNF33A-93	0			c.G55T						.						78.0	78.0	78.0					10																	38305844		2203	4300	6503	SO:0001583	missense	7581	exon3			GTGACTGTGGGCT	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.55G>T	10.37:g.38305844G>T	ENSP00000387713:p.Val19Leu	286	1		319	107	NM_006954	0	0	0	0	0	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599842	0.66332	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	3.52	3.52	0.40303	Krueppel-associated box (4);	.	.	.	.	T	0.26195	0.0639	M	0.90870	3.155	0.25609	N	0.986512	D;P;D;D	0.89917	0.99;0.922;0.992;1.0	D;P;D;D	0.87578	0.98;0.583;0.992;0.998	T	0.04333	-1.0959	9	0.87932	D	0	.	10.7336	0.46111	0.0:0.0:1.0:0.0	.	26;19;19;19	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	L	19;26;19;19;19	ENSP00000363747:V19L;ENSP00000402467:V26L;ENSP00000387713:V19L;ENSP00000304268:V19L	ENSP00000277672:V19L	V	+	1	0	ZNF33A	38345850	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.978000	0.49305	1.981000	0.57761	0.313000	0.20887	GTG	.		0.478	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974	
RET	5979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	43609034	43609034	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:43609034G>T	ENST00000355710.3	+	10	2022	c.1790G>T	c.(1789-1791)gGg>gTg	p.G597V	RET_ENST00000340058.5_Missense_Mutation_p.G597V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	597					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G592_G607del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CACGAGCCTGGGGAGCCCCGG	0.647		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												p.G597V	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	.	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	.	RET-4507	1	Deletion - In frame(1)	thyroid(1)	c.G1790T						.						27.0	29.0	28.0					10																	43609034		2202	4300	6502	SO:0001583	missense	5979	exon10	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	AGCCTGGGGAGCC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1790G>T	10.37:g.43609034G>T	ENSP00000347942:p.Gly597Val	21	0		33	14	NM_020630	0	0	0	0	0	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905397	0.33628	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98474	-1.16;-4.95;-1.28	4.92	4.0	0.46444	.	0.047539	0.85682	D	0.000000	D	0.98438	0.9480	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98463	1.0597	10	0.72032	D	0.01	.	7.8599	0.29504	0.086:0.0:0.7507:0.1634	.	343;597;597	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	597;114;597	ENSP00000347942:G597V;ENSP00000419080:G114V;ENSP00000344798:G597V	ENSP00000344798:G597V	G	+	2	0	RET	42929040	1.000000	0.71417	0.954000	0.39281	0.005000	0.04900	4.875000	0.63072	1.037000	0.40024	0.563000	0.77884	GGG	.		0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
RASGEF1A	221002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	43692433	43692433	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:43692433T>A	ENST00000395809.1	-	11	3845	c.1339A>T	c.(1339-1341)Agc>Tgc	p.S447C	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.S447C|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.S455C			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	447	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCTTCCTCGCTGTAGATGGGC	0.582																																					p.S447C		.											.	RASGEF1A-227	0			c.A1339T						.						153.0	114.0	127.0					10																	43692433		2203	4300	6503	SO:0001583	missense	221002	exon11			CCTCGCTGTAGAT	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1339A>T	10.37:g.43692433T>A	ENSP00000379154:p.Ser447Cys	154	0		150	62	NM_145313	0	0	0	0	0	Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176070	0.78564	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.35236	1.32;1.32;1.32	5.08	5.08	0.68730	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.065737	0.64402	D	0.000005	T	0.58047	0.2095	M	0.71036	2.16	0.42677	D	0.993533	D;D	0.65815	0.992;0.995	P;D	0.66497	0.88;0.944	T	0.63897	-0.6533	10	0.87932	D	0	.	15.1349	0.72555	0.0:0.0:0.0:1.0	.	447;455	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	C	455;447;447	ENSP00000363583:S455C;ENSP00000379155:S447C;ENSP00000379154:S447C	ENSP00000363583:S455C	S	-	1	0	RASGEF1A	43012439	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.730000	0.68546	2.033000	0.60031	0.533000	0.62120	AGC	.		0.582	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313	
NPY4R	5540	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	47087507	47087507	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:47087507C>A	ENST00000395716.1	+	2	809	c.724C>A	c.(724-726)Cag>Aag	p.Q242K	NPY4R_ENST00000374312.1_Missense_Mutation_p.Q242K			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	242					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCGGCGCCTGCAGAGGCAGGG	0.597																																					p.Q242K		.											.	PPYR1-524	0			c.C724A						.						152.0	126.0	135.0					10																	47087507		2203	4300	6503	SO:0001583	missense	5540	exon3			CGCCTGCAGAGGC		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.724C>A	10.37:g.47087507C>A	ENSP00000379066:p.Gln242Lys	121	0		131	28	NM_005972	0	0	0	0	0	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	C	1.302	-0.604675	0.03717	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.35048	1.33;1.33	5.12	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.412407	0.26514	N	0.023957	T	0.15305	0.0369	N	0.03324	-0.35	0.40897	D	0.984125	B	0.09022	0.002	B	0.09377	0.004	T	0.07888	-1.0749	10	0.10636	T	0.68	.	12.6649	0.56835	0.2944:0.7056:0.0:0.0	.	242	P50391	NPY4R_HUMAN	K	242	ENSP00000363431:Q242K;ENSP00000379066:Q242K	ENSP00000363431:Q242K	Q	+	1	0	PPYR1	46507513	0.995000	0.38212	0.997000	0.53966	0.237000	0.25408	1.457000	0.35212	1.291000	0.44653	0.609000	0.83330	CAG	.		0.597	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1		
ARHGAP22	58504	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	49658873	49658873	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:49658873C>G	ENST00000249601.4	-	9	1595	c.1299G>C	c.(1297-1299)cgG>cgC	p.R433R	ARHGAP22_ENST00000374170.1_Silent_p.R274R|ARHGAP22_ENST00000477708.2_Silent_p.R266R|ARHGAP22_ENST00000417247.2_Silent_p.R343R|ARHGAP22_ENST00000374172.1_Silent_p.R324R|ARHGAP22_ENST00000435790.2_Silent_p.R439R|ARHGAP22_ENST00000417912.2_Silent_p.R449R	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	433	Ser-rich.				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						ACCTCGGCTGCCGGAAGGAGG	0.682																																					p.R449R		.											.	ARHGAP22-228	0			c.G1347C						.						17.0	16.0	17.0					10																	49658873		2192	4292	6484	SO:0001819	synonymous_variant	58504	exon9			CGGCTGCCGGAAG	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.1299G>C	10.37:g.49658873C>G		106	0		186	68	NM_001256024	0	0	0	0	0	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	CCDS7227.1																																																																																			.		0.682	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226	
WDFY4	57705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	49918000	49918000	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:49918000C>A	ENST00000325239.5	+	1	250	c.223C>A	c.(223-225)Cta>Ata	p.L75I	WDFY4_ENST00000413659.2_Missense_Mutation_p.L75I|WDFY4_ENST00000360890.2_Missense_Mutation_p.L75I	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	75						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TCTTCTCCCCCTATTCCTAAA	0.453																																					p.L75I		.											.	WDFY4-22	0			c.C223A						.						132.0	114.0	119.0					10																	49918000		692	1591	2283	SO:0001583	missense	57705	exon2			CTCCCCCTATTCC	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.223C>A	10.37:g.49918000C>A	ENSP00000320563:p.Leu75Ile	57	0		45	16	NM_020945	0	0	0	0	0	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614135	0.46631	.	.	ENSG00000128815	ENST00000360890;ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T;T	0.53857	0.6;3.47;3.47	5.54	4.64	0.57946	.	.	.	.	.	T	0.55832	0.1945	M	0.64997	1.995	0.34271	D	0.680978	P;P	0.46395	0.856;0.877	B;P	0.47470	0.439;0.548	T	0.70051	-0.4978	9	0.62326	D	0.03	.	10.2046	0.43105	0.0:0.9081:0.0:0.0919	.	75;75	Q6ZS81;Q6ZS81-2	WDFY4_HUMAN;.	I	75;84;75;75;75	ENSP00000354141:L75I;ENSP00000320563:L75I;ENSP00000403789:L75I	ENSP00000320563:L75I	L	+	1	2	WDFY4	49588006	0.140000	0.22579	0.974000	0.42286	0.416000	0.31233	0.994000	0.29693	1.332000	0.45431	0.591000	0.81541	CTA	.		0.453	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
WDFY4	57705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	49934093	49934093	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:49934093C>G	ENST00000325239.5	+	5	786	c.759C>G	c.(757-759)ctC>ctG	p.L253L	WDFY4_ENST00000413659.2_Silent_p.L253L|WDFY4_ENST00000360890.2_Silent_p.L253L	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	253						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CCCAGAACCTCAGCATCATCC	0.587																																					p.L253L		.											.	WDFY4-22	0			c.C759G						.						38.0	32.0	34.0					10																	49934093		692	1591	2283	SO:0001819	synonymous_variant	57705	exon6			GAACCTCAGCATC	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.759C>G	10.37:g.49934093C>G		119	0		170	31	NM_020945	0	0	0	0	0	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Silent	SNP	ENST00000325239.5	37	CCDS44385.1																																																																																			.		0.587	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
WDFY4	57705	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	49951243	49951243	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:49951243G>T	ENST00000325239.5	+	11	2136	c.2109G>T	c.(2107-2109)agG>agT	p.R703S	WDFY4_ENST00000413659.2_Missense_Mutation_p.R703S	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	703						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						ACTTCTTCAGGAGGAATGGGC	0.592																																					p.R703S		.											.	WDFY4-22	0			c.G2109T						.						39.0	35.0	36.0					10																	49951243		692	1591	2283	SO:0001583	missense	57705	exon12			CTTCAGGAGGAAT	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.2109G>T	10.37:g.49951243G>T	ENSP00000320563:p.Arg703Ser	178	1		140	57	NM_020945	0	0	0	0	0	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376888	0.42105	.	.	ENSG00000128815	ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T	0.54866	0.55;1.57	5.13	4.23	0.50019	Armadillo-type fold (1);	.	.	.	.	T	0.46425	0.1392	L	0.55103	1.725	0.30273	N	0.792042	P	0.35328	0.495	B	0.31442	0.13	T	0.47182	-0.9137	8	.	.	.	.	12.674	0.56882	0.08:0.0:0.92:0.0	.	703	Q6ZS81	WDFY4_HUMAN	S	712;703;703;703	ENSP00000320563:R703S;ENSP00000403789:R703S	.	R	+	3	2	WDFY4	49621249	1.000000	0.71417	0.984000	0.44739	0.695000	0.40330	3.066000	0.50002	1.182000	0.42928	-0.251000	0.11542	AGG	.		0.592	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
WDFY4	57705	bcgsc.ca	37	10	49968459	49968459	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:49968459C>T	ENST00000325239.5	+	12	2554	c.2527C>T	c.(2527-2529)Cgg>Tgg	p.R843W	WDFY4_ENST00000413659.2_Missense_Mutation_p.R843W	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	843						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GCTGCTGCCTCGGTTGTACCA	0.512																																					p.R843W		.											.	WDFY4-22	0			c.C2527T						.						109.0	97.0	101.0					10																	49968459		692	1591	2283	SO:0001583	missense	57705	exon13			CTGCCTCGGTTGT	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.2527C>T	10.37:g.49968459C>T	ENSP00000320563:p.Arg843Trp	154	3		167	60	NM_020945	0	0	0	0	0	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144182	0.37825	.	.	ENSG00000128815	ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T	0.42900	0.96;0.96	5.52	1.41	0.22369	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.23572	0.0570	L	0.29908	0.895	0.09310	N	1	B	0.18863	0.031	B	0.08055	0.003	T	0.16276	-1.0408	8	.	.	.	.	1.2171	0.01916	0.164:0.4476:0.14:0.2485	.	843	Q6ZS81	WDFY4_HUMAN	W	852;843;843;843	ENSP00000320563:R843W;ENSP00000403789:R843W	.	R	+	1	2	WDFY4	49638465	0.000000	0.05858	0.190000	0.23270	0.984000	0.73092	0.247000	0.18179	0.817000	0.34445	0.655000	0.94253	CGG	.		0.512	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
WDFY4	57705	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	50098737	50098737	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50098737G>A	ENST00000325239.5	+	43	7308	c.7281G>A	c.(7279-7281)acG>acA	p.T2427T	WDFY4_ENST00000413659.2_3'UTR|RP11-523O18.7_ENST00000430438.1_RNA	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2427						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TGTCTCCCACGGGTGATGTCT	0.547																																					p.T2427T		.											.	WDFY4-22	0			c.G7281A						.						114.0	88.0	96.0					10																	50098737		692	1591	2283	SO:0001819	synonymous_variant	57705	exon44			TCCCACGGGTGAT	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.7281G>A	10.37:g.50098737G>A		273	1		292	95	NM_020945	0	0	0	0	0	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Silent	SNP	ENST00000325239.5	37	CCDS44385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.854|7.854	0.724609|0.724609	0.15439|0.15439	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000312002|ENST00000265453	.|.	.|.	.|.	4.83|4.83	-0.843|-0.843	0.10744|0.10744	.|.	.|.	.|.	.|.	.|.	T|T	0.42921|0.42921	0.1224|0.1224	.|.	.|.	.|.	0.51233|0.51233	D|D	0.999919|0.999919	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.27502|0.27502	-1.0072|-1.0072	4|4	.|.	.|.	.|.	.|.	3.2518|3.2518	0.06818|0.06818	0.3643:0.0:0.412:0.2237|0.3643:0.0:0.412:0.2237	.|.	.|.	.|.	.|.	R|Q	1518|514	.|.	.|.	G|R	+|+	1|2	0|0	WDFY4|WDFY4	49768743|49768743	0.195000|0.195000	0.23338|0.23338	0.446000|0.446000	0.26920|0.26920	0.924000|0.924000	0.55760|0.55760	-0.042000|-0.042000	0.12063|0.12063	0.055000|0.055000	0.16094|0.16094	-0.254000|-0.254000	0.11334|0.11334	GGG|CGG	.		0.547	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
FAM170B	170370	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	50341914	50341914	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50341914C>G	ENST00000311787.5	-	1	139	c.50G>C	c.(49-51)gGg>gCg	p.G17A	FAM170B-AS1_ENST00000443389.1_RNA|FAM170B-AS1_ENST00000442525.1_RNA|FAM170B-AS1_ENST00000435809.1_RNA	NM_001164484.1	NP_001157956.1	A6NMN3	F170B_HUMAN	family with sequence similarity 170, member B	17										central_nervous_system(1)|endometrium(1)|skin(1)	3						GAGGGTGGTCCCATCGGTGGG	0.542																																					p.G17A		.											.	.	0			c.G50C						.						160.0	140.0	146.0					10																	50341914		692	1591	2283	SO:0001583	missense	170370	exon1			GTGGTCCCATCGG		CCDS53536.1	10q11.23	2008-11-06	2008-06-12	2008-06-12	ENSG00000172538	ENSG00000172538			19736	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 73"""	C10orf73			Standard	NM_001164484		Approved	Em:AC084727.4	uc001jhj.3	A6NMN3	OTTHUMG00000018187	ENST00000311787.5:c.50G>C	10.37:g.50341914C>G	ENSP00000308292:p.Gly17Ala	179	2		189	55	NM_001164484	0	0	0	0	0	Q86WY6|Q8N6K8	Missense_Mutation	SNP	ENST00000311787.5	37	CCDS53536.1	.	.	.	.	.	.	.	.	.	.	C	2.123	-0.400985	0.04865	.	.	ENSG00000172538	ENST00000311787	T	0.35789	1.29	3.73	1.88	0.25563	.	0.445700	0.18559	N	0.137676	T	0.27134	0.0665	L	0.51422	1.61	0.09310	N	1	P	0.44139	0.827	B	0.38327	0.271	T	0.14282	-1.0478	10	0.54805	T	0.06	-26.1047	5.6882	0.17815	0.0:0.7562:0.0:0.2438	.	17	A6NMN3	F170B_HUMAN	A	17	ENSP00000308292:G17A	ENSP00000308292:G17A	G	-	2	0	FAM170B	50011920	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.226000	0.17776	0.554000	0.29061	0.655000	0.94253	GGG	.		0.542	FAM170B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047974.1	XM_096317	
C10orf71	118461	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	50530784	50530784	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50530784G>T	ENST00000374144.3	+	3	482	c.194G>T	c.(193-195)gGg>gTg	p.G65V	C10orf71_ENST00000323868.4_Missense_Mutation_p.G65V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	65										endometrium(1)	1						CAGGTGTTTGGGACTTTTCAC	0.572																																					p.G65V		.											.	C10orf71-90	0			c.G194T						.						56.0	60.0	59.0					10																	50530784		1982	4149	6131	SO:0001583	missense	118461	exon3			TGTTTGGGACTTT	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.194G>T	10.37:g.50530784G>T	ENSP00000363259:p.Gly65Val	247	1		264	92	NM_001135196	0	0	0	0	0	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533437	0.27387	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.18174	2.23;3.36	5.13	5.13	0.70059	.	0.000000	0.51477	D	0.000085	T	0.37598	0.1009	L	0.59436	1.845	0.20926	N	0.999824	D	0.76494	0.999	D	0.76575	0.988	T	0.11494	-1.0585	10	0.62326	D	0.03	.	14.2323	0.65901	0.0:0.2676:0.7324:0.0	.	65	Q711Q0-3	.	V	65	ENSP00000318713:G65V;ENSP00000363259:G65V	ENSP00000318713:G65V	G	+	2	0	C10orf71	50200790	0.099000	0.21834	0.079000	0.20413	0.206000	0.24218	1.439000	0.35013	2.396000	0.81511	0.557000	0.71058	GGG	.		0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
C10orf71	118461	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	10	50532949	50532949	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50532949G>T	ENST00000374144.3	+	3	2647	c.2359G>T	c.(2359-2361)Ggg>Tgg	p.G787W	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	787										endometrium(1)	1						CTTAAGCAATGGGCACGCATG	0.532																																					p.G787W		.											.	C10orf71-90	0			c.G2359T						.						88.0	84.0	85.0					10																	50532949		692	1591	2283	SO:0001583	missense	118461	exon3			AGCAATGGGCACG	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2359G>T	10.37:g.50532949G>T	ENSP00000363259:p.Gly787Trp	153	0		197	68	NM_001135196	0	0	0	0	0	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351744	0.41700	.	.	ENSG00000177354	ENST00000374144	T	0.05513	3.43	5.16	4.25	0.50352	.	0.518932	0.14424	U	0.320424	T	0.07324	0.0185	L	0.27053	0.805	0.18873	N	0.999984	.	.	.	.	.	.	T	0.28713	-1.0035	8	0.87932	D	0	.	8.627	0.33895	0.0:0.266:0.511:0.223	.	.	.	.	W	787	ENSP00000363259:G787W	ENSP00000363259:G787W	G	+	1	0	C10orf71	50202955	0.417000	0.25432	0.009000	0.14445	0.033000	0.12548	1.368000	0.34216	1.152000	0.42452	0.467000	0.42956	GGG	.		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
C10orf71	118461	bcgsc.ca	37	10	50534259	50534259	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50534259C>A	ENST00000374144.3	+	3	3957	c.3669C>A	c.(3667-3669)tgC>tgA	p.C1223*	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1223										endometrium(1)	1						GGCCGCTGTGCCCCAGAGAGA	0.657																																					p.C1223X		.											.	C10orf71-90	0			c.C3669A						.						6.0	9.0	8.0					10																	50534259		685	1569	2254	SO:0001587	stop_gained	118461	exon3			GCTGTGCCCCAGA	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3669C>A	10.37:g.50534259C>A	ENSP00000363259:p.Cys1223*	173	2		221	80	NM_001135196	0	0	0	0	0	A0AVL8	Nonsense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	41	8.615974	0.98886	.	.	ENSG00000177354	ENST00000374144	.	.	.	5.51	0.342	0.15996	.	0.656368	0.12658	N	0.449896	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	2.764	0.05315	0.3333:0.3059:0.0:0.3608	.	.	.	.	X	1223	.	ENSP00000363259:C1223X	C	+	3	2	C10orf71	50204265	0.000000	0.05858	0.006000	0.13384	0.030000	0.12068	-0.115000	0.10741	0.013000	0.14918	-0.439000	0.05793	TGC	.		0.657	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
SLC18A3	6572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	50819769	50819769	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50819769G>T	ENST00000374115.3	+	1	1423	c.983G>T	c.(982-984)gGc>gTc	p.G328V	CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	328					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGGGAGATGGGCATGGCCTGG	0.667																																					p.G328V		.											.	SLC18A3-92	0			c.G983T						.						71.0	71.0	71.0					10																	50819769		2203	4300	6503	SO:0001583	missense	6572	exon1			AGATGGGCATGGC	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.983G>T	10.37:g.50819769G>T	ENSP00000363229:p.Gly328Val	39	0		59	17	NM_003055	0	0	0	0	0	B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553913	0.86231	.	.	ENSG00000187714	ENST00000374115	T	0.61158	0.13	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.82829	0.5122	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87720	0.2572	10	0.87932	D	0	1.7678	18.6285	0.91350	0.0:0.0:1.0:0.0	.	328	Q16572	VACHT_HUMAN	V	328	ENSP00000363229:G328V	ENSP00000363229:G328V	G	+	2	0	SLC18A3	50489775	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.817000	0.99352	2.412000	0.81896	0.561000	0.74099	GGC	.		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055	
CHAT	1103	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	50854688	50854688	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:50854688G>C	ENST00000337653.2	+	8	1402	c.1249G>C	c.(1249-1251)Ggg>Cgg	p.G417R	CHAT_ENST00000455728.2_Missense_Mutation_p.G299R|CHAT_ENST00000395559.2_Missense_Mutation_p.G299R|CHAT_ENST00000351556.3_Missense_Mutation_p.G299R|CHAT_ENST00000339797.1_Missense_Mutation_p.G299R|CHAT_ENST00000395562.2_Missense_Mutation_p.G335R	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	417					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CAGCAAGAACGGGGCCAATCG	0.642																																					p.G417R		.											.	CHAT-514	0			c.G1249C						.						78.0	67.0	71.0					10																	50854688		2203	4300	6503	SO:0001583	missense	1103	exon8			AAGAACGGGGCCA	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1249G>C	10.37:g.50854688G>C	ENSP00000337103:p.Gly417Arg	235	0		273	86	NM_020549	0	0	0	0	0	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458951	0.84317	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.46	5.46	0.80206	.	0.110722	0.64402	D	0.000005	D	0.95918	0.8671	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95761	0.8800	10	0.54805	T	0.06	-28.1281	19.2976	0.94129	0.0:0.0:1.0:0.0	.	299;417	F8W8I2;P28329	.;CLAT_HUMAN	R	299;299;299;417;335;299	ENSP00000343486:G299R;ENSP00000345878:G299R;ENSP00000378926:G299R;ENSP00000337103:G417R;ENSP00000378929:G335R;ENSP00000390521:G299R	ENSP00000337103:G417R	G	+	1	0	CHAT	50524694	1.000000	0.71417	0.886000	0.34754	0.812000	0.45895	5.956000	0.70315	2.569000	0.86673	0.655000	0.94253	GGG	.		0.642	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
PARG	8505	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	51040918	51040918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:51040918C>A	ENST00000402038.3	-	12	1122	c.1123G>T	c.(1123-1125)Gag>Tag	p.E375*	PARG_ENST00000492350.1_5'UTR	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	860	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		GAAAGATTCTCTGAAGAAACT	0.448																																					p.E860X		.											.	PARG-948	0			c.G2578T						.						73.0	69.0	70.0					10																	51040918		692	1591	2283	SO:0001587	stop_gained	8505	exon16			GATTCTCTGAAGA	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.1123G>T	10.37:g.51040918C>A	ENSP00000384408:p.Glu375*	145	0		163	52	NM_003631	0	0	0	0	0	A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Nonsense_Mutation	SNP	ENST00000402038.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.961766|3.961766	0.74016|0.74016	.|.	.|.	ENSG00000227345|ENSG00000227345	ENST00000402038|ENST00000432127	.|.	.|.	.|.	5.67|5.67	4.76|4.76	0.60689|0.60689	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51787	.|0.1695	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62478	.|-0.6846	.|3	0.10636|.	T|.	0.68|.	-13.7566|-13.7566	9.1349|9.1349	0.36868|0.36868	0.0:0.5701:0.353:0.0769|0.0:0.5701:0.353:0.0769	.|.	.|.	.|.	.|.	X|H	375|75	.|.	ENSP00000384408:E375X|.	E|Q	-|-	1|3	0|2	PARG|PARG	50710924|50710924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.860000|0.860000	0.49131|0.49131	2.351000|2.351000	0.44071|0.44071	1.389000|1.389000	0.46526|0.46526	-0.176000|-0.176000	0.13171|0.13171	GAG|CAG	.		0.448	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631	
SGMS1	259230	broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	52067049	52067049	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:52067049C>G	ENST00000361781.2	-	11	2054	c.1095G>C	c.(1093-1095)ctG>ctC	p.L365L	SGMS1_ENST00000429490.1_Silent_p.L196L	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	371					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ACACCCTGGCCAGGAGGTTCA	0.438																																					p.L365L		.											.	SGMS1-227	0			c.G1095C						.						88.0	82.0	84.0					10																	52067049		2203	4300	6503	SO:0001819	synonymous_variant	259230	exon11			CCTGGCCAGGAGG	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.1095G>C	10.37:g.52067049C>G		80	2		112	54	NM_147156	0	0	0	0	0	Q68U43|Q6EKK0|Q75SP1	Silent	SNP	ENST00000361781.2	37	CCDS7240.1																																																																																			.		0.438	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156	
A1CF	29974	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	52573773	52573773	+	Silent	SNP	G	G	T	rs377560793		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:52573773G>T	ENST00000373993.1	-	8	1235	c.1191C>A	c.(1189-1191)ggC>ggA	p.G397G	A1CF_ENST00000282641.2_Silent_p.G397G|A1CF_ENST00000373997.3_Silent_p.G389G|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000374001.2_Silent_p.G389G|A1CF_ENST00000395489.2_Silent_p.G390G|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373995.3_Silent_p.G397G|A1CF_ENST00000395495.1_Silent_p.G342G			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	397	Required for nuclear localization. {ECO:0000269|PubMed:12896982}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AGCCACGGCCGCCCAGTCCTC	0.483																																					p.G405G		.											.	A1CF-68	0			c.C1215A						.						78.0	80.0	80.0					10																	52573773		2203	4300	6503	SO:0001819	synonymous_variant	29974	exon12			ACGGCCGCCCAGT	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1191C>A	10.37:g.52573773G>T		83	0		93	32	NM_001198819	0	0	0	0	0	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	CCDS7242.1																																																																																			.		0.483	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	56106181	56106181	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:56106181C>G	ENST00000320301.6	-	6	932	c.538G>C	c.(538-540)Gat>Cat	p.D180H	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D180H|PCDH15_ENST00000373965.2_Missense_Mutation_p.D180H|PCDH15_ENST00000395433.1_Missense_Mutation_p.D158H|PCDH15_ENST00000395442.1_Missense_Mutation_p.D180H|PCDH15_ENST00000395438.1_Missense_Mutation_p.D180H|PCDH15_ENST00000395446.1_Missense_Mutation_p.D180H|PCDH15_ENST00000395445.1_Missense_Mutation_p.D180H|PCDH15_ENST00000395440.1_Missense_Mutation_p.D180H|PCDH15_ENST00000414778.1_Missense_Mutation_p.D185H|PCDH15_ENST00000373957.3_Missense_Mutation_p.D158H|PCDH15_ENST00000361849.3_Missense_Mutation_p.D180H|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000373955.1_Missense_Mutation_p.D180H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D180H|PCDH15_ENST00000395432.2_Missense_Mutation_p.D180H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	180	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			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)				GGTCCATCATCTATATCTGTA	0.323										HNSCC(58;0.16)																											p.D185H		.											.	PCDH15-193	0			c.G553C						.						142.0	143.0	142.0					10																	56106181		2203	4299	6502	SO:0001583	missense	65217	exon7			CATCATCTATATC	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.538G>C	10.37:g.56106181C>G	ENSP00000322604:p.Asp180His	56	0		75	15	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	25.2	4.612047	0.87258	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;1.5;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.35	5.35	0.76521	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92001	0.7466	H	0.98507	4.25	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D	0.95008	0.8149	9	0.87932	D	0	.	17.8392	0.88710	0.0:1.0:0.0:0.0	.	158;180;180;185;180;180;180;180;180;180;180;185;180;158;180	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	180;185;180;180;180;180;180;180;180;180;158;158;180;180;185;180;180	ENSP00000363076:D180H;ENSP00000410304:D185H;ENSP00000378826:D180H;ENSP00000378832:D180H;ENSP00000378833:D180H;ENSP00000378829:D180H;ENSP00000378827:D180H;ENSP00000378820:D180H;ENSP00000354950:D180H;ENSP00000378821:D158H;ENSP00000363068:D158H;ENSP00000322604:D180H;ENSP00000378818:D180H;ENSP00000412628:D180H;ENSP00000363066:D180H	ENSP00000322604:D180H	D	-	1	0	PCDH15	55776187	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.137000	0.77295	2.514000	0.84764	0.650000	0.86243	GAT	.		0.323	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
BICC1	80114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	60562966	60562966	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:60562966C>T	ENST00000373886.3	+	15	2149	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A	BICC1_ENST00000263103.1_Silent_p.A341A	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	715					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCGAAAGGGCCCACCTTGCTC	0.502																																					p.A715A		.											.	BICC1-72	0			c.C2145T						.						48.0	48.0	48.0					10																	60562966		2203	4300	6503	SO:0001819	synonymous_variant	80114	exon15			AAGGGCCCACCTT	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2145C>T	10.37:g.60562966C>T		152	0		108	26	NM_001080512	0	0	0	0	0		Silent	SNP	ENST00000373886.3	37	CCDS31206.1																																																																																			.		0.502	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	
FAM13C	220965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	61029737	61029737	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:61029737G>T	ENST00000373868.2	-	7	812	c.725C>A	c.(724-726)tCc>tAc	p.S242Y	FAM13C_ENST00000442566.3_Missense_Mutation_p.S263Y|FAM13C_ENST00000277705.6_Missense_Mutation_p.S263Y|FAM13C_ENST00000468840.2_Missense_Mutation_p.S159Y|FAM13C_ENST00000419214.2_Missense_Mutation_p.S242Y|FAM13C_ENST00000422313.2_Missense_Mutation_p.S242Y|FAM13C_ENST00000435852.2_Missense_Mutation_p.S242Y|FAM13C_ENST00000373867.3_Missense_Mutation_p.S159Y	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	242										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGAAGATGGAGCATCGTGG	0.522																																					p.S242Y		.											.	FAM13C-70	0			c.C725A						.						101.0	91.0	94.0					10																	61029737		2203	4300	6503	SO:0001583	missense	220965	exon7			AAGATGGAGCATC	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.725C>A	10.37:g.61029737G>T	ENSP00000362975:p.Ser242Tyr	216	0		130	53	NM_198215	0	0	0	0	0	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383925	0.82792	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;0.92;-1.12;-1.12;-1.12;-1.12	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.80944	0.4721	L	0.31845	0.965	0.48975	D	0.999731	D;D;D;D;D	0.89917	1.0;0.99;0.999;0.988;0.999	D;P;D;D;D	0.71656	0.974;0.906;0.971;0.912;0.962	T	0.73254	-0.4041	10	0.06891	T	0.86	-3.7849	19.7156	0.96119	0.0:0.0:1.0:0.0	.	242;159;242;242;242	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	Y	159;242;263;263;242;159;242;242;20	ENSP00000362974:S159Y;ENSP00000362975:S242Y;ENSP00000395661:S263Y;ENSP00000277705:S263Y;ENSP00000391993:S242Y;ENSP00000423896:S159Y;ENSP00000392302:S242Y;ENSP00000400241:S242Y;ENSP00000445068:S20Y	ENSP00000277705:S263Y	S	-	2	0	FAM13C	60699743	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.055000	0.76656	2.658000	0.90341	0.655000	0.94253	TCC	.		0.522	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
FAM13C	220965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	61112192	61112192	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:61112192C>A	ENST00000373868.2	-	3	249	c.162G>T	c.(160-162)ctG>ctT	p.L54L	FAM13C_ENST00000442566.3_Silent_p.L54L|FAM13C_ENST00000277705.6_Silent_p.L54L|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000419214.2_Silent_p.L54L|FAM13C_ENST00000422313.2_Silent_p.L54L|FAM13C_ENST00000435852.2_Silent_p.L54L|FAM13C_ENST00000373867.3_5'UTR	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	54										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTCTTCTACCAGAGCCCCTG	0.502																																					p.L54L		.											.	FAM13C-70	0			c.G162T						.						30.0	33.0	32.0					10																	61112192		2203	4300	6503	SO:0001819	synonymous_variant	220965	exon3			TTCTACCAGAGCC	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.162G>T	10.37:g.61112192C>A		36	0		33	8	NM_198215	0	0	0	0	0	B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	CCDS7255.1																																																																																			.		0.502	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
ANK3	288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	61815615	61815615	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:61815615C>G	ENST00000280772.2	-	42	13057	c.12866G>C	c.(12865-12867)gGa>gCa	p.G4289A	ANK3_ENST00000355288.2_Missense_Mutation_p.G913A|ANK3_ENST00000373827.2_Missense_Mutation_p.G1773A|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000503366.1_Missense_Mutation_p.G1780A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4289					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGACCAGATCCATGTATTTT	0.388																																					p.G4289A		.											.	ANK3-107	0			c.G12866C						.						255.0	243.0	247.0					10																	61815615		2203	4300	6503	SO:0001583	missense	288	exon42			CCAGATCCATGTA	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12866G>C	10.37:g.61815615C>G	ENSP00000280772:p.Gly4289Ala	123	0		111	47	NM_020987	0	0	0	0	0	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	9.020	0.984648	0.18889	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.77489	-0.11;-0.44;-1.1;0.74;0.33;-0.43	6.03	2.1	0.27182	.	0.177369	0.26983	N	0.021516	T	0.61540	0.2355	L	0.27053	0.805	0.09310	N	0.999996	B;B;B;B;B;B;B	0.30664	0.043;0.043;0.043;0.289;0.073;0.043;0.0	B;B;B;B;B;B;B	0.34779	0.004;0.01;0.006;0.189;0.023;0.01;0.0	T	0.47661	-0.9100	10	0.23891	T	0.37	.	5.2886	0.15716	0.3552:0.3744:0.2098:0.0606	.	1780;913;1773;4289;1014;913;312	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	A	4289;1773;371;61;913;1780;1759;1014	ENSP00000280772:G4289A;ENSP00000362933:G1773A;ENSP00000362926:G371A;ENSP00000423057:G61A;ENSP00000347436:G913A;ENSP00000425236:G1780A	ENSP00000280772:G4289A	G	-	2	0	ANK3	61485621	0.951000	0.32395	0.289000	0.24876	0.827000	0.46813	0.634000	0.24614	0.140000	0.18849	-0.226000	0.12346	GGA	.		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
TET1	80312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	70450767	70450767	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:70450767A>T	ENST00000373644.4	+	12	5816	c.5607A>T	c.(5605-5607)tcA>tcT	p.S1869S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1869					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CAACAGCCTCATGCGGGTTTT	0.572																																					p.S1869S		.											.	TET1-663	0			c.A5607T						.						80.0	72.0	75.0					10																	70450767		2203	4300	6503	SO:0001819	synonymous_variant	80312	exon12			AGCCTCATGCGGG	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5607A>T	10.37:g.70450767A>T		74	0		96	26	NM_030625	0	0	0	0	0	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																			.		0.572	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
STOX1	219736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	70644278	70644278	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:70644278G>T	ENST00000298596.6	+	3	809	c.726G>T	c.(724-726)caG>caT	p.Q242H	STOX1_ENST00000399169.4_Missense_Mutation_p.Q242H|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.Q132H	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	242						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CCCACTGTCAGTCTTGCCAGT	0.532																																					p.Q242H		.											.	STOX1-92	0			c.G726T						.						77.0	77.0	77.0					10																	70644278		2031	4188	6219	SO:0001583	missense	219736	exon3			CTGTCAGTCTTGC	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.726G>T	10.37:g.70644278G>T	ENSP00000298596:p.Gln242His	126	0		109	46	NM_152709	0	0	0	0	0	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	3.471	-0.107935	0.06924	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.74106	-0.81;-0.81;-0.48	5.57	-1.02	0.10135	.	0.142736	0.44483	U	0.000455	T	0.48677	0.1513	N	0.17674	0.51	0.23882	N	0.996577	B	0.10296	0.003	B	0.04013	0.001	T	0.17992	-1.0351	10	0.34782	T	0.22	.	1.0841	0.01649	0.2096:0.2031:0.368:0.2193	.	242	Q6ZVD7	STOX1_HUMAN	H	242;242;132	ENSP00000382121:Q242H;ENSP00000298596:Q242H;ENSP00000394509:Q132H	ENSP00000298596:Q242H	Q	+	3	2	STOX1	70314284	1.000000	0.71417	0.134000	0.22075	0.014000	0.08584	0.855000	0.27805	-0.190000	0.10465	0.591000	0.81541	CAG	.		0.532	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709	
COL13A1	1305	broad.mit.edu;bcgsc.ca	37	10	71658494	71658494	+	Silent	SNP	G	G	T	rs538730570		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:71658494G>T	ENST00000398978.3	+	14	1248	c.756G>T	c.(754-756)ccG>ccT	p.P252P	COL13A1_ENST00000398964.3_Silent_p.P223P|COL13A1_ENST00000398972.3_Silent_p.P252P|COL13A1_ENST00000398969.3_Silent_p.P195P|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398966.3_Intron|COL13A1_ENST00000356340.3_Silent_p.P252P|COL13A1_ENST00000398974.3_Silent_p.P240P|COL13A1_ENST00000398968.3_Silent_p.P233P|COL13A1_ENST00000520267.1_Silent_p.P195P|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000522165.1_Silent_p.P233P|COL13A1_ENST00000398971.3_Silent_p.P252P|COL13A1_ENST00000398973.3_Silent_p.P252P|COL13A1_ENST00000354547.3_Intron	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CTCCACCCCCGGTCATAAAAA	0.572																																					p.P252P		.											.	COL13A1-91	0			c.G756T						.						79.0	77.0	78.0					10																	71658494		2013	4157	6170	SO:0001819	synonymous_variant	1305	exon14			ACCCCCGGTCATA	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.756G>T	10.37:g.71658494G>T		79	0		79	12	NM_001130103	0	0	0	0	0		Silent	SNP	ENST00000398978.3	37	CCDS44419.1																																																																																			.		0.572	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203	
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	73326680	73326680	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:73326680C>A	ENST00000224721.6	+	6	631	c.626C>A	c.(625-627)aCg>aAg	p.T209K	CDH23_ENST00000398809.4_Missense_Mutation_p.T204K|CDH23_ENST00000398842.3_Missense_Mutation_p.T204K|CDH23_ENST00000461841.3_Missense_Mutation_p.T249K|CDH23_ENST00000299366.7_Missense_Mutation_p.T249K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	204	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TACCAGCTCACGGTCAACGCC	0.622																																					p.T204K		.											.	CDH23-563	0			c.C611A						.						36.0	38.0	37.0					10																	73326680		2056	4180	6236	SO:0001583	missense	64072	exon7			AGCTCACGGTCAA	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.626C>A	10.37:g.73326680C>A	ENSP00000224721:p.Thr209Lys	50	0		29	22	NM_052836	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	16.15	3.040388	0.55003	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.02446	4.29;4.29	5.6	3.48	0.39840	Cadherin (5);Cadherin-like (1);	0.193410	0.30752	N	0.008945	T	0.03053	0.0090	M	0.61703	1.905	0.80722	D	1	P;P;P;P	0.49358	0.701;0.869;0.799;0.923	B;B;B;B	0.42386	0.127;0.386;0.151;0.316	T	0.41592	-0.9500	10	0.02654	T	1	.	6.0485	0.19773	0.3955:0.5066:0.0:0.0979	.	204;204;204;204	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	K	209;204;204;204;204;209;209;145	ENSP00000381789:T204K;ENSP00000381822:T204K	ENSP00000224721:T209K	T	+	2	0	CDH23	72996686	0.998000	0.40836	0.999000	0.59377	0.990000	0.78478	3.859000	0.55987	2.653000	0.90120	0.561000	0.74099	ACG	.		0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	73405591	73405591	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:73405591C>A	ENST00000224721.6	+	12	1164	c.1159C>A	c.(1159-1161)Ctg>Atg	p.L387M	CDH23_ENST00000398809.4_Missense_Mutation_p.L382M|CDH23_ENST00000398842.3_Missense_Mutation_p.L382M|CDH23_ENST00000461841.3_Missense_Mutation_p.L427M|CDH23_ENST00000299366.7_Missense_Mutation_p.L427M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACCCAGGGCCTGAACAGCAT	0.577																																					p.L382M		.											.	CDH23-563	0			c.C1144A						.						58.0	62.0	61.0					10																	73405591		2073	4214	6287	SO:0001583	missense	64072	exon12			CAGGGCCTGAACA	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1159C>A	10.37:g.73405591C>A	ENSP00000224721:p.Leu387Met	218	0		237	96	NM_052836	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	17.15	3.317138	0.60524	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.61627	0.62;0.09	4.91	3.02	0.34903	Cadherin (3);Cadherin-like (1);	0.273596	0.25192	N	0.032453	T	0.53029	0.1771	L	0.31157	0.91	0.80722	D	1	P;D	0.53151	0.836;0.958	P;P	0.54312	0.519;0.748	T	0.46233	-0.9206	10	0.32370	T	0.25	.	9.0143	0.36159	0.0:0.7691:0.0:0.2309	.	382;382	Q9H251;Q9H251-5	CAD23_HUMAN;.	M	387;382;382;382;382;385;385;297	ENSP00000381789:L382M;ENSP00000381822:L382M	ENSP00000224721:L387M	L	+	1	2	CDH23	73075597	0.999000	0.42202	1.000000	0.80357	0.931000	0.56810	1.782000	0.38654	1.068000	0.40764	0.561000	0.74099	CTG	.		0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
CDH23	64072	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	73447457	73447457	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:73447457G>T	ENST00000224721.6	+	18	2060	c.2055G>T	c.(2053-2055)gtG>gtT	p.V685V	CDH23_ENST00000299366.7_Silent_p.V725V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	680	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCGTCTCCGTGGTGGAGAACA	0.627																																					p.V680V		.											.	CDH23-563	0			c.G2040T						.						42.0	46.0	45.0					10																	73447457		2066	4208	6274	SO:0001819	synonymous_variant	64072	exon18			CTCCGTGGTGGAG	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2055G>T	10.37:g.73447457G>T		103	1		129	29	NM_022124	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				.		0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
CHST3	9469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	73766985	73766985	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:73766985G>T	ENST00000373115.4	+	3	633	c.196G>T	c.(196-198)Gac>Tac	p.D66Y		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	66					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)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						CAACAGCACCGACCCAGCCCT	0.567																																					p.D66Y		.											.	CHST3-90	0			c.G196T						.						95.0	89.0	91.0					10																	73766985		2203	4300	6503	SO:0001583	missense	9469	exon3			AGCACCGACCCAG	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.196G>T	10.37:g.73766985G>T	ENSP00000362207:p.Asp66Tyr	123	0		105	39	NM_004273	0	0	0	0	0	O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	G	3.890	-0.024202	0.07634	.	.	ENSG00000122863	ENST00000373115	D	0.96522	-4.04	5.62	3.75	0.43078	.	0.419079	0.26780	N	0.022533	D	0.92799	0.7710	L	0.36672	1.1	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	D	0.86083	0.1545	10	0.72032	D	0.01	-39.0115	11.6258	0.51145	0.1448:0.0:0.8552:0.0	.	66	Q7LGC8	CHST3_HUMAN	Y	66	ENSP00000362207:D66Y	ENSP00000362207:D66Y	D	+	1	0	CHST3	73436991	0.968000	0.33430	0.897000	0.35233	0.011000	0.07611	2.740000	0.47418	0.728000	0.32382	0.655000	0.94253	GAC	.		0.567	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273	
PPP3CB	5532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	75239173	75239173	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:75239173C>A	ENST00000360663.5	-	2	299	c.188G>T	c.(187-189)gGt>gTt	p.G63V	PPP3CB_ENST00000545874.1_5'UTR|PPP3CB_ENST00000394828.2_Missense_Mutation_p.G63V|PPP3CB_ENST00000342558.3_Missense_Mutation_p.G63V|PPP3CB_ENST00000394822.2_Missense_Mutation_p.G63V|PPP3CB_ENST00000394829.2_Missense_Mutation_p.G63V			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	63	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					ATCTACTCGACCTTCTTTCAC	0.448																																					p.G63V		.											.	PPP3CB-226	0			c.G188T						.						182.0	173.0	176.0					10																	75239173		2203	4300	6503	SO:0001583	missense	5532	exon2			ACTCGACCTTCTT	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.188G>T	10.37:g.75239173C>A	ENSP00000353881:p.Gly63Val	126	0		107	29	NM_001142354	0	0	0	0	0	P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047505	0.93740	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000394822	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000009	D	0.88058	0.6335	H	0.95780	3.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91095	0.4910	10	0.87932	D	0	.	19.6572	0.95847	0.0:1.0:0.0:0.0	.	63;63;63;63	P16298-2;P16298-3;Q8N1F0;P16298	.;.;.;PP2BB_HUMAN	V	63	ENSP00000353881:G63V;ENSP00000378306:G63V;ENSP00000378305:G63V;ENSP00000343147:G63V;ENSP00000378299:G63V	ENSP00000343147:G63V	G	-	2	0	PPP3CB	74909179	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.732000	0.84908	2.661000	0.90470	0.655000	0.94253	GGT	.		0.448	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132	
DUSP13	51207	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	76861715	76861715	+	5'Flank	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:76861715T>A	ENST00000472493.2	-	0	0				DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000607131.1_Missense_Mutation_p.Q63L|DUSP13_ENST00000605915.1_5'Flank|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000491677.2_Missense_Mutation_p.Q99L|DUSP13_ENST00000478873.2_5'Flank	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13						meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CACTTGATGCTGTTTCTATTT	0.527																																					p.Q63L	NSCLC(174;1655 2059 12324 40663 42963)	.											.	DUSP13-226	0			c.A188T						.						69.0	70.0	70.0					10																	76861715		2203	4300	6503	SO:0001631	upstream_gene_variant	51207	exon3			TGATGCTGTTTCT	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516		10.37:g.76861715T>A	Exception_encountered	62	0		56	10	NM_001007273	0	0	0	0	0	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.140932	0.37825	.	.	ENSG00000079393	ENST00000491677;ENST00000372698	T	0.05925	3.37	4.14	1.74	0.24563	.	1.379220	0.05124	N	0.491197	T	0.05456	0.0144	L	0.27053	0.805	0.80722	D	1	B	0.33694	0.421	B	0.32465	0.146	T	0.25710	-1.0124	10	0.48119	T	0.1	-4.4496	4.1569	0.10265	0.0:0.1076:0.2093:0.683	.	99	F2Z2C4	.	L	99;63	ENSP00000436312:Q99L	ENSP00000361783:Q63L	Q	-	2	0	DUSP13	76531721	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.593000	0.23999	0.368000	0.24481	0.533000	0.62120	CAG	.		0.527	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3		
RPS24	6229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	79814544	79814544	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:79814544G>T	ENST00000440692.1	+	5	788	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	RPS24_ENST00000476545.1_3'UTR	NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	0					cellular protein metabolic process (GO:0044267)|erythrocyte homeostasis (GO:0034101)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|translation initiation factor binding (GO:0031369)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			GAGGGCACTGgtcagaaacgg	0.587																																					p.V216F		.											.	RPS24-91	0			c.G646T						.						139.0	138.0	138.0					10																	79814544		692	1591	2283	SO:0001583	missense	6229	exon5			GCACTGGTCAGAA	AB007159	CCDS7355.1, CCDS7356.1, CCDS44443.1	10q22	2011-04-06			ENSG00000138326	ENSG00000138326		"""S ribosomal proteins"""	10411	protein-coding gene	gene with protein product		602412				9027498, 9582194	Standard	NM_001142283		Approved	S24	uc001jzs.3	P62847	OTTHUMG00000018549	ENST00000440692.1:c.646G>T	10.37:g.79814544G>T	ENSP00000414321:p.Val216Phe	173	0		192	82	NM_001142285	0	0	0	0	0	E7EPK6|P16632|Q5T0P7|Q5T0P8|Q7Z3D1	Missense_Mutation	SNP	ENST00000440692.1	37	CCDS44443.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829244	0.32329	.	.	ENSG00000138326	ENST00000440692	.	.	.	2.52	2.52	0.30459	.	.	.	.	.	T	0.16599	0.0399	N	0.08118	0	0.24318	N	0.995054	D	0.55385	0.971	B	0.44278	0.445	T	0.04885	-1.0920	7	.	.	.	.	8.6869	0.34243	0.0:0.0:1.0:0.0	.	216	E7EPK6	.	F	216	.	.	V	+	1	0	RPS24	79484550	0.425000	0.25498	0.063000	0.19743	0.058000	0.15608	1.609000	0.36858	1.749000	0.51849	0.462000	0.41574	GTC	.		0.587	RPS24-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001026	
CDHR1	92211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	85961590	85961590	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:85961590C>A	ENST00000372117.3	+	7	656	c.553C>A	c.(553-555)Cgc>Agc	p.R185S	CDHR1_ENST00000440770.2_5'Flank|CDHR1_ENST00000332904.3_Missense_Mutation_p.R185S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGCCGTGGACCGCCACAGCGG	0.612																																					p.R185S		.											.	CDHR1-91	0			c.C553A						.						48.0	51.0	50.0					10																	85961590		2203	4300	6503	SO:0001583	missense	92211	exon7			GTGGACCGCCACA	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.553C>A	10.37:g.85961590C>A	ENSP00000361189:p.Arg185Ser	30	0		33	16	NM_001171971	0	0	0	0	0	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820218	0.32145	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.51071	0.72;0.72	5.11	5.11	0.69529	Cadherin (4);Cadherin-like (1);	0.225617	0.45867	D	0.000331	T	0.38161	0.1030	N	0.04373	-0.215	0.80722	D	1	P;P	0.48589	0.873;0.912	B;P	0.56700	0.446;0.804	T	0.18713	-1.0328	10	0.08179	T	0.78	-5.5634	15.8037	0.78477	0.0:1.0:0.0:0.0	.	185;185	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	S	185	ENSP00000331063:R185S;ENSP00000361189:R185S	ENSP00000331063:R185S	R	+	1	0	CDHR1	85951570	1.000000	0.71417	0.998000	0.56505	0.134000	0.20937	2.859000	0.48364	2.531000	0.85337	0.655000	0.94253	CGC	.		0.612	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100	
BMPR1A	657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	88649911	88649911	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:88649911G>C	ENST00000372037.3	+	4	697	c.160G>C	c.(160-162)Gat>Cat	p.D54H	RNU1-19P_ENST00000363306.1_RNA	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	54					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AGCACCAGAGGATACCTTGCC	0.418			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												p.D54H	Ovarian(190;603 2086 22044 30335 47971)	.	yes	Rec		Juvenile polyposis	10	10q22.3	657	"""bone morphogenetic protein receptor, type IA"""		E	.	BMPR1A-1619	0			c.G160C						.						159.0	146.0	151.0					10																	88649911		2203	4300	6503	SO:0001583	missense	657	exon4	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	CCAGAGGATACCT	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.160G>C	10.37:g.88649911G>C	ENSP00000361107:p.Asp54His	254	0		234	47	NM_004329	0	0	0	0	0	A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696773	0.68386	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.83506	-1.73	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.83557	0.5280	L	0.27053	0.805	0.80722	D	1	P	0.44429	0.835	P	0.51866	0.682	T	0.82768	-0.0294	10	0.46703	T	0.11	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	54	P36894	BMR1A_HUMAN	H	54	ENSP00000361107:D54H	ENSP00000224764:D54H	D	+	1	0	BMPR1A	88639891	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.065000	0.93941	2.861000	0.98227	0.650000	0.86243	GAT	.		0.418	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329	
IFIT5	24138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	91177055	91177055	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:91177055G>A	ENST00000371795.4	+	2	312	c.99G>A	c.(97-99)gaG>gaA	p.E33E	LIPA_ENST00000371837.1_5'Flank|IFIT5_ENST00000416601.1_Silent_p.E33E	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	33		Interaction with PPP-RNA.			defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						ATCTGTTTGAGGTAGAAGATA	0.368																																					p.E33E		.											.	IFIT5-90	0			c.G99A						.						85.0	89.0	88.0					10																	91177055		2203	4300	6503	SO:0001819	synonymous_variant	24138	exon2			GTTTGAGGTAGAA	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.99G>A	10.37:g.91177055G>A		138	0		125	40	NM_012420	0	0	0	0	0	B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Silent	SNP	ENST00000371795.4	37	CCDS7403.1																																																																																			.		0.368	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420	
IDE	3416	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	94239048	94239048	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:94239048T>C	ENST00000265986.6	-	15	1926	c.1870A>G	c.(1870-1872)Atc>Gtc	p.I624V	IDE_ENST00000371581.5_Missense_Mutation_p.I69V|IDE_ENST00000496903.1_Intron	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	624					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	ATCCCATAGATGGTATTTTGG	0.413																																					p.I624V		.											.	IDE-92	0			c.A1870G						.						177.0	153.0	161.0					10																	94239048		2203	4300	6503	SO:0001583	missense	3416	exon15			CATAGATGGTATT	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1870A>G	10.37:g.94239048T>C	ENSP00000265986:p.Ile624Val	88	1		77	26	NM_004969	0	0	0	0	0	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	1.474	-0.559160	0.03967	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.34472	1.36;1.36	5.64	5.64	0.86602	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.169358	0.49305	D	0.000154	T	0.17874	0.0429	N	0.02286	-0.61	0.48341	D	0.999633	B	0.02656	0.0	B	0.01281	0.0	T	0.08411	-1.0723	10	0.30078	T	0.28	-11.1868	15.5248	0.75894	0.0:0.0:0.0:1.0	.	624	P14735	IDE_HUMAN	V	624;69	ENSP00000265986:I624V;ENSP00000360637:I69V	ENSP00000265986:I624V	I	-	1	0	IDE	94229028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.650000	0.46665	2.152000	0.67230	0.533000	0.62120	ATC	.		0.413	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	
PIPSL	266971	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	95720969	95720969	+	RNA	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:95720969A>T	ENST00000480546.1	-	0	328					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ACTCTCCACCATGTGGAAATC	0.507																																					.		.											.	.	0			.						.																																					266971	.			TCCACCATGTGGA	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720969A>T		342	1		311	47	.	0	0	0	0	0	Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																				.		0.507	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319	
ALDH18A1	5832	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	97386505	97386505	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:97386505C>A	ENST00000371224.2	-	10	1244	c.1107G>T	c.(1105-1107)atG>atT	p.M369I	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.M367I	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	369	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CAGATCGCGCCATTTCTCCCT	0.448																																					p.M369I		.											.	ALDH18A1-117	0			c.G1107T						.						146.0	114.0	125.0					10																	97386505		2203	4300	6503	SO:0001583	missense	5832	exon10			TCGCGCCATTTCT	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1107G>T	10.37:g.97386505C>A	ENSP00000360268:p.Met369Ile	115	1		97	21	NM_002860	0	0	0	0	0	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427587	0.62733	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.75367	-0.93;-0.93	5.96	5.96	0.96718	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.102431	0.85682	D	0.000000	T	0.64338	0.2589	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.21360	0.034;0.02	T	0.57294	-0.7836	10	0.38643	T	0.18	-30.313	17.9158	0.88950	0.0:1.0:0.0:0.0	.	369;367	P54886;P54886-2	P5CS_HUMAN;.	I	369;367	ENSP00000360268:M369I;ENSP00000360265:M367I	ENSP00000360265:M367I	M	-	3	0	ALDH18A1	97376495	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.096000	0.76960	2.832000	0.97577	0.655000	0.94253	ATG	.		0.448	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860	
PIK3AP1	118788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	98355338	98355338	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:98355338C>G	ENST00000339364.5	-	17	2533	c.2414G>C	c.(2413-2415)cGc>cCc	p.R805P	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R627P|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R404P	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	805					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTGGAATCAGCGTCCTCTGGG	0.428																																					p.R805P		.											.	PIK3AP1-519	0			c.G2414C						.						133.0	121.0	125.0					10																	98355338		2203	4300	6503	SO:0001583	missense	118788	exon17			AATCAGCGTCCTC	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.2414G>C	10.37:g.98355338C>G	ENSP00000339826:p.Arg805Pro	203	0		180	39	NM_152309	0	0	0	0	0	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283160	0.59867	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.38722	2.26;1.6;1.12	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.52370	0.1730	L	0.27053	0.805	0.50632	D	0.999889	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.55095	-0.8194	10	0.87932	D	0	.	15.1861	0.73002	0.0:1.0:0.0:0.0	.	805;404	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	P	805;627;404	ENSP00000339826:R805P;ENSP00000360151:R627P;ENSP00000360150:R404P	ENSP00000339826:R805P	R	-	2	0	PIK3AP1	98345328	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	4.021000	0.57196	2.659000	0.90383	0.563000	0.77884	CGC	.		0.428	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309	
SLIT1	6585	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	98766287	98766287	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:98766287G>T	ENST00000266058.4	-	32	3777	c.3532C>A	c.(3532-3534)Cag>Aag	p.Q1178K	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Q1178K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1178	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCAGTGAACTGCAGGTAAGTG	0.612																																					p.Q1178K		.											.	SLIT1-94	0			c.C3532A						.						78.0	56.0	63.0					10																	98766287		2203	4300	6503	SO:0001583	missense	6585	exon32			TGAACTGCAGGTA	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3532C>A	10.37:g.98766287G>T	ENSP00000266058:p.Gln1178Lys	212	1		229	91	NM_003061	0	0	0	0	0	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928738	0.73327	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.68331	-0.32;-0.32	5.19	5.19	0.71726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.063724	0.64402	D	0.000004	T	0.63082	0.2481	L	0.46157	1.445	0.80722	D	1	P	0.39282	0.666	B	0.37601	0.254	T	0.66114	-0.6004	10	0.49607	T	0.09	.	18.9192	0.92518	0.0:0.0:1.0:0.0	.	1178	O75093	SLIT1_HUMAN	K	1178	ENSP00000266058:Q1178K;ENSP00000360109:Q1178K	ENSP00000266058:Q1178K	Q	-	1	0	SLIT1	98756277	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.552000	0.73914	2.698000	0.92095	0.655000	0.94253	CAG	.		0.612	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
PYROXD2	84795	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	100143584	100143584	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:100143584C>G	ENST00000370575.4	-	16	1765	c.1717G>C	c.(1717-1719)Gtg>Ctg	p.V573L	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	573							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTAAAGGCCACATGTGCTGCA	0.557																																					p.V573L		.											.	PYROXD2-90	0			c.G1717C						.						194.0	183.0	187.0					10																	100143584		2203	4300	6503	SO:0001583	missense	84795	exon16			AGGCCACATGTGC	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1717G>C	10.37:g.100143584C>G	ENSP00000359607:p.Val573Leu	116	1		102	41	NM_032709	0	0	0	0	0	D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	C	5.426	0.263811	0.10294	.	.	ENSG00000119943	ENST00000370575	T	0.40756	1.02	5.39	2.52	0.30459	.	0.576325	0.19741	N	0.107121	T	0.30198	0.0757	L	0.37897	1.145	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.17961	-1.0352	10	0.27082	T	0.32	-36.4938	9.5032	0.39031	0.0:0.7077:0.0:0.2923	.	573	Q8N2H3	PYRD2_HUMAN	L	573	ENSP00000359607:V573L	ENSP00000359607:V573L	V	-	1	0	PYROXD2	100133574	0.003000	0.15002	0.745000	0.31077	0.198000	0.23893	0.669000	0.25142	0.252000	0.21531	0.462000	0.41574	GTG	.		0.557	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709	
PYROXD2	84795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	100159880	100159880	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:100159880C>A	ENST00000370575.4	-	5	498	c.450G>T	c.(448-450)caG>caT	p.Q150H	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	150							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCTGGGAGAACTGGGCGATCT	0.587																																					p.Q150H		.											.	PYROXD2-90	0			c.G450T						.						127.0	81.0	97.0					10																	100159880		2203	4300	6503	SO:0001583	missense	84795	exon5			GGAGAACTGGGCG	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.450G>T	10.37:g.100159880C>A	ENSP00000359607:p.Gln150His	109	0		79	32	NM_032709	0	0	0	0	0	D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829646	0.50845	.	.	ENSG00000119943	ENST00000370575	T	0.59224	0.28	5.25	3.1	0.35709	.	0.170299	0.51477	D	0.000081	T	0.53158	0.1779	M	0.70275	2.135	0.46061	D	0.998844	B	0.13145	0.007	B	0.12156	0.007	T	0.56074	-0.8039	10	0.62326	D	0.03	-18.9699	8.0866	0.30775	0.0:0.6935:0.1848:0.1217	.	150	Q8N2H3	PYRD2_HUMAN	H	150	ENSP00000359607:Q150H	ENSP00000359607:Q150H	Q	-	3	2	PYROXD2	100149870	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.632000	0.37102	1.172000	0.42781	0.462000	0.41574	CAG	.		0.587	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709	
CWF19L1	55280	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	101995432	101995432	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:101995432C>T	ENST00000354105.4	-	13	1550	c.1464G>A	c.(1462-1464)caG>caA	p.Q488Q	SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Silent_p.Q203Q|RP11-316M21.6_ENST00000444359.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	488							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		ACCTTCCAAACTGCAAAGGAA	0.353																																					p.Q488Q		.											.	CWF19L1-90	0			c.G1464A						.						66.0	64.0	64.0					10																	101995432		2203	4300	6503	SO:0001819	synonymous_variant	55280	exon13			TCCAAACTGCAAA	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1464G>A	10.37:g.101995432C>T		23	0		25	6	NM_018294	0	0	0	0	0	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Silent	SNP	ENST00000354105.4	37	CCDS7489.1																																																																																			.		0.353	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294	
PAX2	5076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	102568924	102568924	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:102568924C>T	ENST00000428433.1	+	8	1469	c.919C>T	c.(919-921)Cta>Tta	p.L307L	PAX2_ENST00000556085.1_Silent_p.L283L|PAX2_ENST00000370296.2_Silent_p.L307L|PAX2_ENST00000361791.3_Silent_p.L284L|PAX2_ENST00000355243.3_Silent_p.L284L	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	307					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAAGTCGAGTCTATCTGCATC	0.577																																					p.L307L		.											.	PAX2-90	0			c.C919T						.						105.0	94.0	98.0					10																	102568924		2203	4300	6503	SO:0001819	synonymous_variant	5076	exon8			TCGAGTCTATCTG		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.919C>T	10.37:g.102568924C>T		100	0		100	43	NM_003987	0	0	0	0	0	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Silent	SNP	ENST00000428433.1	37	CCDS53569.1																																																																																			.		0.577	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
NFKB2	4791	hgsc.bcm.edu	37	10	104159416	104159416	+	Silent	SNP	G	G	T	rs576597585		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:104159416G>T	ENST00000369966.3	+	14	1660	c.1410G>T	c.(1408-1410)gcG>gcT	p.A470A	NFKB2_ENST00000189444.6_Silent_p.A470A|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Silent_p.A470A	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	470				A -> R (in Ref. 1; CAA43715 and 2; AAB21124). {ECO:0000305}.	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)	CCGCGGACGCGCGCGCGCTGC	0.731			T	IGH@	B-NHL								G|||	1	0.000199681	0.0008	0.0	5008	,	,		14700	0.0		0.0	False		,,,				2504	0.0				p.A470A		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.G1410T						.						4.0	6.0	5.0					10																	104159416		1641	3452	5093	SO:0001819	synonymous_variant	4791	exon14			GGACGCGCGCGCG	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.1410G>T	10.37:g.104159416G>T		2	0		68	25	NM_001077494	0	0	0	0	0	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			.		0.731	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
C10orf95	79946	hgsc.bcm.edu	37	10	104210735	104210735	+	Missense_Mutation	SNP	C	C	A	rs2281878	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:104210735C>A	ENST00000239125.1	-	2	327	c.253G>T	c.(253-255)Gct>Tct	p.A85S	RP11-18I14.10_ENST00000494270.2_RNA|RP11-18I14.10_ENST00000492465.2_RNA|RP11-18I14.10_ENST00000473970.2_RNA|RP11-18I14.10_ENST00000596045.1_RNA|RP11-18I14.10_ENST00000594818.1_RNA|RP11-18I14.10_ENST00000596366.1_RNA	NM_024886.1	NP_079162.1	Q9H7T3	CJ095_HUMAN	chromosome 10 open reading frame 95	85	Arg/Pro-rich.									liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		GCTGCGGAAGCTGTGGGCCTG	0.766													C|||	1422	0.283946	0.2481	0.2147	5008	,	,		8527	0.3661		0.2107	False		,,,				2504	0.3722				p.A85S		.											.	C10orf95-91	0			c.G253T						.	C	SER/ALA	686,2688		69,548,1070	4.0	6.0	5.0		253	0.9	1.0	10	dbSNP_100	5	1301,5815		124,1053,2381	yes	missense	C10orf95	NM_024886.1	99	193,1601,3451	AA,AC,CC		18.2827,20.332,18.9418	possibly-damaging	85/258	104210735	1987,8503	1687	3558	5245	SO:0001583	missense	79946	exon2			CGGAAGCTGTGGG	AK024342	CCDS7534.1	10q24.32	2014-02-19	2014-02-19	2014-02-19	ENSG00000120055	ENSG00000120055			25880	protein-coding gene	gene with protein product							Standard	NM_024886		Approved	FLJ14280	uc001kvo.1	Q9H7T3	OTTHUMG00000018959	ENST00000239125.1:c.253G>T	10.37:g.104210735C>A	ENSP00000239125:p.Ala85Ser	0	0		24	20	NM_024886	0	0	0	0	0	A0AVQ7	Missense_Mutation	SNP	ENST00000239125.1	37	CCDS7534.1	525	0.2403846153846154	101	0.20528455284552846	71	0.19613259668508287	200	0.34965034965034963	153	0.20184696569920843	C	12.47	1.948662	0.34377	0.20332	0.182827	ENSG00000120055	ENST00000239125	.	.	.	4.68	0.951	0.19579	.	0.773948	0.10608	N	0.654824	T	0.00012	0.0000	N	0.08118	0	0.53688	P	2.5000000000052758E-5	B	0.33807	0.426	B	0.32090	0.14	T	0.45891	-0.9230	8	0.33940	T	0.23	-38.6243	6.6233	0.22816	0.0:0.3488:0.0:0.6512	rs2281878	85	Q9H7T3	CJ095_HUMAN	S	85	.	ENSP00000239125:A85S	A	-	1	0	C10orf95	104200725	0.997000	0.39634	0.987000	0.45799	0.038000	0.13279	0.038000	0.13862	0.047000	0.15862	-0.350000	0.07774	GCT	C|0.759;A|0.241		0.766	C10orf95-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050065.1	NM_024886	
INA	9118	hgsc.bcm.edu	37	10	105037222	105037222	+	Missense_Mutation	SNP	A	A	G	rs529183084	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:105037222A>G	ENST00000369849.4	+	1	303	c.254A>G	c.(253-255)aAc>aGc	p.N85S		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	85	Head.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCGCGCACCAACGAGTACAAG	0.692													A|||	2	0.000399361	0.0	0.0	5008	,	,		11800	0.002		0.0	False		,,,				2504	0.0				p.N85S		.											.	INA-154	0			c.A254G						.						25.0	26.0	25.0					10																	105037222		2143	4158	6301	SO:0001583	missense	9118	exon1			GCACCAACGAGTA	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.254A>G	10.37:g.105037222A>G	ENSP00000358865:p.Asn85Ser	10	0		50	13	NM_032727	0	0	0	0	0	B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142927	0.57044	.	.	ENSG00000148798	ENST00000369849	D	0.82803	-1.65	4.03	4.03	0.46877	Intermediate filament head, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	L	0.37630	1.12	0.43841	D	0.996426	B	0.32653	0.379	B	0.40329	0.326	T	0.68792	-0.5315	10	0.05620	T	0.96	.	12.3605	0.55201	1.0:0.0:0.0:0.0	.	85	Q16352	AINX_HUMAN	S	85	ENSP00000358865:N85S	ENSP00000358865:N85S	N	+	2	0	INA	105027212	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.092000	0.50207	1.810000	0.52873	0.379000	0.24179	AAC	.		0.692	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727	
CALHM3	119395	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	105236155	105236155	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:105236155G>T	ENST00000369783.4	-	2	646	c.439C>A	c.(439-441)Cag>Aag	p.Q147K		NM_001129742.1	NP_001123214.1	Q86XJ0	CAHM3_HUMAN	calcium homeostasis modulator 3	147					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)	2						AGCTGTACCTGGCTGGGGGTC	0.597																																					p.Q147K		.											.	CALHM3-67	0			c.C439A						.						54.0	54.0	54.0					10																	105236155		692	1591	2283	SO:0001583	missense	119395	exon2			GTACCTGGCTGGG	BC043367	CCDS44476.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000183128	ENSG00000183128			23458	protein-coding gene	gene with protein product			"""family with sequence similarity 26, member A"""	FAM26A		18585350	Standard	NM_001129742		Approved	bA225H22.7	uc001kxg.4	Q86XJ0	OTTHUMG00000018989	ENST00000369783.4:c.439C>A	10.37:g.105236155G>T	ENSP00000358798:p.Gln147Lys	254	0		425	140	NM_001129742	0	0	0	0	0	Q5W090|Q8IXR2	Missense_Mutation	SNP	ENST00000369783.4	37	CCDS44476.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657912	0.47467	.	.	ENSG00000183128	ENST00000369783	T	0.15834	2.39	5.61	4.68	0.58851	.	0.335612	0.32120	N	0.006546	T	0.15955	0.0384	L	0.53249	1.67	0.32795	N	0.500604	B	0.13145	0.007	B	0.16289	0.015	T	0.06552	-1.0820	10	0.21540	T	0.41	-1.202	10.2343	0.43273	0.082:0.2344:0.6836:0.0	.	147	Q86XJ0-2	.	K	147	ENSP00000358798:Q147K	ENSP00000358798:Q147K	Q	-	1	0	CALHM3	105226145	0.045000	0.20229	1.000000	0.80357	0.839000	0.47603	1.003000	0.29809	2.646000	0.89796	0.561000	0.74099	CAG	.		0.597	CALHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050157.1	NM_182494	
SORCS3	22986	hgsc.bcm.edu;broad.mit.edu	37	10	106401534	106401534	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:106401534C>T	ENST00000369701.3	+	1	676	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	150					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCACTGCTCCGGCCGATGGT	0.726																																					p.P150L	NSCLC(116;1497 1690 7108 13108 14106)	.											.	SORCS3-99	0			c.C449T						.						4.0	3.0	3.0					10																	106401534		1841	3681	5522	SO:0001583	missense	22986	exon1			CTGCTCCGGCCGA	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.449C>T	10.37:g.106401534C>T	ENSP00000358715:p.Pro150Leu	18	0		107	14	NM_014978	0	0	0	0	0	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	3.504	-0.101251	0.06967	.	.	ENSG00000156395	ENST00000369701	T	0.13901	2.55	3.88	-5.71	0.02413	.	1.585390	0.04484	N	0.378314	T	0.05502	0.0145	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39292	-0.9621	10	0.30854	T	0.27	.	7.9091	0.29780	0.1186:0.4998:0.0:0.3816	.	150	Q9UPU3	SORC3_HUMAN	L	150	ENSP00000358715:P150L	ENSP00000358715:P150L	P	+	2	0	SORCS3	106391524	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-0.452000	0.06787	-1.105000	0.03011	-0.471000	0.05019	CCG	.		0.726	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SORCS3	22986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	106737189	106737189	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:106737189C>A	ENST00000369701.3	+	4	1119	c.892C>A	c.(892-894)Cag>Aag	p.Q298K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	298					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTCTATATCCAGAGCCTGCT	0.443																																					p.Q298K	NSCLC(116;1497 1690 7108 13108 14106)	.											.	SORCS3-99	0			c.C892A						.						118.0	103.0	108.0					10																	106737189		2203	4300	6503	SO:0001583	missense	22986	exon4			TATATCCAGAGCC	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.892C>A	10.37:g.106737189C>A	ENSP00000358715:p.Gln298Lys	31	0		58	9	NM_014978	0	0	0	0	0	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058912	0.55325	.	.	ENSG00000156395	ENST00000369701	T	0.30182	1.54	5.6	5.6	0.85130	VPS10 (1);	0.073305	0.64402	D	0.000018	T	0.28167	0.0695	L	0.36672	1.1	0.44603	D	0.997577	P	0.37864	0.61	B	0.38616	0.277	T	0.02751	-1.1115	10	0.11485	T	0.65	.	19.6179	0.95643	0.0:1.0:0.0:0.0	.	298	Q9UPU3	SORC3_HUMAN	K	298	ENSP00000358715:Q298K	ENSP00000358715:Q298K	Q	+	1	0	SORCS3	106727179	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.963000	0.56773	2.653000	0.90120	0.563000	0.77884	CAG	.		0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SORCS3	22986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	106970974	106970974	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:106970974T>A	ENST00000369701.3	+	17	2568	c.2341T>A	c.(2341-2343)Tgc>Agc	p.C781S	SORCS3_ENST00000369699.4_Missense_Mutation_p.C67S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	781					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCAAAGGACTGCAGCCTTGG	0.468																																					p.C781S	NSCLC(116;1497 1690 7108 13108 14106)	.											.	SORCS3-99	0			c.T2341A						.						111.0	91.0	97.0					10																	106970974		2203	4300	6503	SO:0001583	missense	22986	exon17			AAGGACTGCAGCC	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2341T>A	10.37:g.106970974T>A	ENSP00000358715:p.Cys781Ser	186	0		216	59	NM_014978	0	0	0	0	0	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.893887	0.72639	.	.	ENSG00000156395	ENST00000369701;ENST00000393176;ENST00000369699	T;T;T	0.64803	1.53;-0.12;0.88	5.93	5.93	0.95920	VPS10 (1);	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88639	0.3174	9	.	.	.	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	781	Q9UPU3	SORC3_HUMAN	S	781;142;67	ENSP00000358715:C781S;ENSP00000376876:C142S;ENSP00000358713:C67S	.	C	+	1	0	SORCS3	106960964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	TGC	.		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SORCS1	114815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	108338952	108338952	+	Intron	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:108338952C>A	ENST00000263054.6	-	25	3379				SORCS1_ENST00000369698.1_Missense_Mutation_p.M678I|SORCS1_ENST00000344440.6_Missense_Mutation_p.M1143I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGGACTGATCATCTCTTGTT	0.453																																					p.M1143I		.											.	SORCS1-153	0			c.G3429T						.						170.0	155.0	160.0					10																	108338952		2203	4300	6503	SO:0001627	intron_variant	114815	exon26			ACTGATCATCTCT	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3371+174G>T	10.37:g.108338952C>A		76	0		115	26	NM_001206572	0	0	0	0	0	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.57|19.57	3.851559|3.851559	0.71719|0.71719	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000369698;ENST00000344440|ENST00000452214	T;T|.	0.25579|.	1.79;2.31|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.400107|.	0.28371|.	N|.	0.015599|.	T|.	0.73760|.	0.3628|.	L|L	0.60455|0.60455	1.87|1.87	0.52099|0.52099	D|D	0.999949|0.999949	B;B|.	0.26363|.	0.063;0.147|.	B;B|.	0.31245|.	0.126;0.126|.	T|.	0.69591|.	-0.5104|.	9|.	.|.	.|.	.|.	-10.6958|-10.6958	20.0165|20.0165	0.97478|0.97478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1143;1143|.	Q8WY21-3;Q8WY21-2|.	.;.|.	I|L	678;1143|158	ENSP00000358712:M678I;ENSP00000345964:M1143I|.	.|.	M|X	-|-	3|2	0|2	SORCS1|SORCS1	108328942|108328942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.740000|2.740000	0.93945|0.93945	0.455000|0.455000	0.32223|0.32223	ATG|TGA	.		0.453	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
SORCS1	114815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	108448031	108448031	+	Missense_Mutation	SNP	G	G	C	rs145364719		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:108448031G>C	ENST00000263054.6	-	10	1486	c.1479C>G	c.(1477-1479)atC>atG	p.I493M	SORCS1_ENST00000369698.1_Missense_Mutation_p.I28M|SORCS1_ENST00000344440.6_Missense_Mutation_p.I493M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	493					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTTATATGTGATGAAAGTCT	0.473																																					p.I493M		.											.	SORCS1-153	0			c.C1479G						.						107.0	96.0	99.0					10																	108448031		2203	4300	6503	SO:0001583	missense	114815	exon10			ATATGTGATGAAA	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1479C>G	10.37:g.108448031G>C	ENSP00000263054:p.Ile493Met	146	0		189	26	NM_001206572	0	0	0	0	0	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473855	0.63737	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.38401	1.14;1.14;1.14	6.17	5.27	0.74061	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	H	0.95745	3.715	0.42229	D	0.991886	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	T	0.76607	-0.2897	9	.	.	.	-27.4765	9.5286	0.39180	0.2076:0.0:0.7924:0.0	.	493;493;493;493;493	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	M	28;493;493	ENSP00000358712:I28M;ENSP00000263054:I493M;ENSP00000345964:I493M	.	I	-	3	3	SORCS1	108438021	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.478000	0.60230	1.620000	0.50308	0.655000	0.94253	ATC	G|1.000;A|0.000		0.473	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
SORCS1	114815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	108589374	108589374	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:108589374G>T	ENST00000263054.6	-	3	691	c.684C>A	c.(682-684)acC>acA	p.T228T	SORCS1_ENST00000344440.6_Silent_p.T228T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	228					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGCTCAAAATGGTTTTCAAAC	0.373																																					p.T228T		.											.	SORCS1-153	0			c.C684A						.						176.0	162.0	167.0					10																	108589374		2203	4300	6503	SO:0001819	synonymous_variant	114815	exon3			CAAAATGGTTTTC	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.684C>A	10.37:g.108589374G>T		108	0		160	17	NM_001206572	0	0	0	0	0	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																			.		0.373	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
SORCS1	114815	broad.mit.edu;bcgsc.ca	37	10	108923768	108923768	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:108923768G>A	ENST00000263054.6	-	1	524	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	SORCS1_ENST00000344440.6_Missense_Mutation_p.H173Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	173					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCTTGGTTGTGTGCTGAGTCT	0.597																																					p.H173Y		.											.	SORCS1-153	0			c.C517T						.						75.0	65.0	68.0					10																	108923768		2203	4300	6503	SO:0001583	missense	114815	exon1			GGTTGTGTGCTGA	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.517C>T	10.37:g.108923768G>A	ENSP00000263054:p.His173Tyr	85	0		127	8	NM_001206572	0	0	0	0	0	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614087	0.87359	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.35973	1.28;1.28	5.16	5.16	0.70880	.	0.000000	0.49305	D	0.000160	T	0.43743	0.1261	L	0.39245	1.2	0.46396	D	0.999022	D;D;P;D;P	0.56968	0.963;0.978;0.955;0.963;0.955	B;P;P;P;P	0.53689	0.42;0.732;0.732;0.543;0.732	T	0.11542	-1.0583	9	.	.	.	-8.4423	17.3761	0.87392	0.0:0.0:1.0:0.0	.	173;173;173;173;173	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Y	173	ENSP00000263054:H173Y;ENSP00000345964:H173Y	.	H	-	1	0	SORCS1	108913758	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	8.700000	0.91322	2.666000	0.90696	0.655000	0.94253	CAC	.		0.597	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
RBM20	282996	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	112572474	112572474	+	Missense_Mutation	SNP	G	G	T	rs540436428		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:112572474G>T	ENST00000369519.3	+	9	2377	c.2319G>T	c.(2317-2319)aaG>aaT	p.K773N		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	773					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						AGTATCTGAAGCAGCAGCAGG	0.602																																					p.K773N		.											.	.	0			c.G2319T						.						55.0	58.0	57.0					10																	112572474		692	1591	2283	SO:0001583	missense	282996	exon9			TCTGAAGCAGCAG	BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.2319G>T	10.37:g.112572474G>T	ENSP00000358532:p.Lys773Asn	98	0		159	70	NM_001134363	0	0	0	0	0	A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	ENST00000369519.3	37	CCDS44477.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277491	0.59758	.	.	ENSG00000203867	ENST00000369519;ENST00000539821	T	0.77358	-1.09	6.04	4.16	0.48862	.	0.544159	0.16462	N	0.213398	T	0.79834	0.4514	L	0.50333	1.59	0.33400	D	0.57726	D	0.61697	0.99	P	0.58721	0.844	T	0.81033	-0.1116	10	0.42905	T	0.14	-34.0735	7.1089	0.25378	0.1488:0.1428:0.7084:0.0	.	773	Q5T481	RBM20_HUMAN	N	773	ENSP00000358532:K773N	ENSP00000358532:K773N	K	+	3	2	RBM20	112562464	1.000000	0.71417	0.918000	0.36340	0.626000	0.37791	1.601000	0.36773	0.849000	0.35215	0.563000	0.77884	AAG	.		0.602	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050339.2	NM_001134363	
ADRA2A	150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	112838012	112838012	+	Silent	SNP	C	C	T	rs375858769		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:112838012C>T	ENST00000280155.2	+	1	1223	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	71					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AAAACCTCTTCCTGGTGTCTC	0.637																																					p.F86F	Esophageal Squamous(173;605 2658 7278 49362)	.											.	ADRA2A-90	0			c.C258T						.	C		0,4406		0,0,2203	61.0	54.0	57.0		258	4.5	1.0	10		57	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADRA2A	NM_000681.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		86/466	112838012	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	150	exon1			CCTCTTCCTGGTG	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.258C>T	10.37:g.112838012C>T		128	0		239	79	NM_000681	0	0	0	0	0	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	CCDS7569.2																																																																																			.		0.637	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681	
ADRA2A	150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	112838129	112838129	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:112838129G>T	ENST00000280155.2	+	1	1340	c.375G>T	c.(373-375)ctG>ctT	p.L125L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	110					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGATCTACCTGGCGCTCGACG	0.612																																					p.L125L	Esophageal Squamous(173;605 2658 7278 49362)	.											.	ADRA2A-90	0			c.G375T						.						96.0	77.0	83.0					10																	112838129		2203	4300	6503	SO:0001819	synonymous_variant	150	exon1			CTACCTGGCGCTC	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.375G>T	10.37:g.112838129G>T		161	0		311	83	NM_000681	0	0	0	0	0	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	CCDS7569.2																																																																																			.		0.612	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681	
TDRD1	56165	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	115991245	115991245	+	Splice_Site	DEL	A	A	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:115991245delA	ENST00000369282.1	+	25	3464	c.3311delA	c.(3310-3312)aaa>aa	p.K1104fs	TDRD1_ENST00000422662.1_Splice_Site_p.K708fs|TDRD1_ENST00000369281.2_Splice_Site_p.K1066fs|TDRD1_ENST00000251864.2_Splice_Site_p.K1180fs			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1094					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCTTTTTCAGAAACAGCATCT	0.333																																					p.K1180fs		.											.	TDRD1-90	0			c.3539delA						.						70.0	68.0	69.0					10																	115991245		2203	4300	6503	SO:0001630	splice_region_variant	56165	exon26			TTTCAGAAACAGC	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369282.1:c.3311-1A>-	10.37:g.115991245delA		52	0		59	18	NM_198795	0	0	0	0	0	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Frame_Shift_Del	DEL	ENST00000369282.1	37																																																																																				.		0.333	TDRD1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050458.1		Frame_Shift_Del
TDRD1	56165	hgsc.bcm.edu	37	10	115991246	115991247	+	Splice_Site	DEL	AA	AA	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	AA	AA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:115991246_115991247delAA	ENST00000369282.1	+	25	3465_3466	c.3312_3313delAA	c.(3310-3315)aaaaca>aaca	p.KT1104fs	TDRD1_ENST00000422662.1_Splice_Site_p.KT708fs|TDRD1_ENST00000369281.2_Splice_Site_p.KT1066fs|TDRD1_ENST00000251864.2_Splice_Site_p.KT1180fs			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1094					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTTTTTCAGAAACAGCATCTCT	0.332																																					p.1180_1181del		.											.	TDRD1-90	0			c.3540_3541del						.																																			SO:0001630	splice_region_variant	56165	exon26			TTCAGAAACAGCA	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369282.1:c.3311-1AA>-	10.37:g.115991246_115991247delAA		52	0		59	0	NM_198795	0	0	0	0	0	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Frame_Shift_Del	DEL	ENST00000369282.1	37																																																																																				.		0.332	TDRD1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050458.1		Frame_Shift_Del
TDRD1	56165	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	10	115991247	115991247	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:115991247A>G	ENST00000369282.1	+	25	3466	c.3313A>G	c.(3313-3315)Aca>Gca	p.T1105A	TDRD1_ENST00000422662.1_Missense_Mutation_p.T709A|TDRD1_ENST00000369281.2_Missense_Mutation_p.T1067A|TDRD1_ENST00000251864.2_Missense_Mutation_p.T1181A			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1095					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTTTTCAGAAACAGCATCTCT	0.333																																					p.T1181A		.											.	TDRD1-90	0			c.A3541G						.						72.0	70.0	70.0					10																	115991247		2203	4300	6503	SO:0001583	missense	56165	exon26			TCAGAAACAGCAT	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369282.1:c.3313A>G	10.37:g.115991247A>G	ENSP00000358288:p.Thr1105Ala	52	0		59	17	NM_198795	0	0	0	0	0	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369282.1	37		.	.	.	.	.	.	.	.	.	.	A	12.23	1.875713	0.33162	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662	T;T;T;T	0.16897	3.16;3.16;2.31;2.59	5.11	-3.24	0.05094	.	0.454713	0.16421	N	0.215159	T	0.05960	0.0155	.	.	.	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.33111	-0.9881	9	0.16420	T	0.52	-2.8461	1.8028	0.03074	0.3586:0.1471:0.3519:0.1424	.	1067;1181	B7WPM2;Q9BXT4-3	.;.	A	1105;1181;1067;709	ENSP00000358288:T1105A;ENSP00000251864:T1181A;ENSP00000358287:T1067A;ENSP00000402794:T709A	ENSP00000251864:T1181A	T	+	1	0	TDRD1	115981237	0.698000	0.27777	0.474000	0.27266	0.092000	0.18411	-0.041000	0.12084	-0.665000	0.05317	-0.429000	0.05907	ACA	.		0.333	TDRD1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050458.1		
ABLIM1	3983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	116201527	116201527	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:116201527G>A	ENST00000277895.5	-	18	2049	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	ABLIM1_ENST00000369266.3_Missense_Mutation_p.S328F|ABLIM1_ENST00000369253.2_Missense_Mutation_p.S274F|ABLIM1_ENST00000392952.3_Missense_Mutation_p.S328F|ABLIM1_ENST00000533213.2_Missense_Mutation_p.S591F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S591F	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	651					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGCAGTTTTAGATGATGGAAT	0.423																																					p.S651F		.											.	ABLIM1-153	0			c.C1952T						.						141.0	136.0	138.0					10																	116201527		2203	4300	6503	SO:0001583	missense	3983	exon18			GTTTTAGATGATG	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1952C>T	10.37:g.116201527G>A	ENSP00000277895:p.Ser651Phe	90	0		163	39	NM_002313	0	0	0	0	0	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320085	0.81469	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.93	5.93	0.95920	.	0.425710	0.26414	N	0.024520	T	0.70072	0.3182	M	0.69463	2.115	0.58432	D	0.999991	P;P;P;P;P;D;P;P;P	0.62365	0.911;0.919;0.951;0.91;0.91;0.991;0.919;0.955;0.951	P;P;P;P;P;P;P;P;P	0.61800	0.668;0.736;0.822;0.635;0.635;0.891;0.536;0.726;0.894	T	0.71307	-0.4632	10	0.87932	D	0	.	18.5344	0.91004	0.0:0.0:1.0:0.0	.	528;253;591;619;651;328;621;575;274	B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.;.;.;.;ABLM1_HUMAN;.;.;.;.	F	651;591;328;274;619;591;719;575;328;575;528;719;403	ENSP00000358256:S591F;ENSP00000376679:S328F;ENSP00000433629:S591F;ENSP00000358270:S328F	ENSP00000277895:S719F	S	-	2	0	ABLIM1	116191517	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	7.416000	0.80143	2.826000	0.97356	0.655000	0.94253	TCT	.		0.423	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
ABLIM1	3983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	116444073	116444073	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:116444073G>A	ENST00000369252.4	-	1	341	c.40C>T	c.(40-42)Cat>Tat	p.H14Y	ABLIM1_ENST00000533213.2_Missense_Mutation_p.H14Y	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	0					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ATGGTGTGATGAGGGTCCGTG	0.463																																					p.H14Y		.											.	ABLIM1-153	0			c.C40T						.						201.0	162.0	175.0					10																	116444073		2203	4300	6503	SO:0001583	missense	3983	exon1			TGTGATGAGGGTC	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000369252.4:c.40C>T	10.37:g.116444073G>A	ENSP00000358256:p.His14Tyr	138	0		275	63	NM_001003407	0	0	0	0	0	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000369252.4	37	CCDS31288.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831566	0.32329	.	.	ENSG00000099204	ENST00000369252;ENST00000369267;ENST00000533213	T;T	0.27104	1.69;1.69	5.87	2.97	0.34412	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.20307	N	0.999915	B;B;B	0.22683	0.073;0.012;0.012	B;B;B	0.19391	0.025;0.009;0.016	T	0.27536	-1.0071	9	0.34782	T	0.22	.	8.3265	0.32160	0.0797:0.2978:0.6225:0.0	.	14;14;14	F8W8M4;A6NKJ2;B3KVH2	.;.;.	Y	14	ENSP00000358256:H14Y;ENSP00000433629:H14Y	ENSP00000358256:H14Y	H	-	1	0	ABLIM1	116434063	0.016000	0.18221	0.179000	0.23059	0.419000	0.31324	1.625000	0.37029	0.458000	0.26988	0.655000	0.94253	CAT	.		0.463	ABLIM1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
GFRA1	2674	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	118030372	118030372	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118030372C>A	ENST00000355422.6	-	3	846	c.296G>T	c.(295-297)tGc>tTc	p.C99F	GFRA1_ENST00000439649.3_Missense_Mutation_p.C99F|GFRA1_ENST00000369236.1_Missense_Mutation_p.C99F|GFRA1_ENST00000490345.1_5'Flank	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	99					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AATGCGCAGGCAGTTCTTCTC	0.627																																					p.C99F	Ovarian(128;329 1725 45498 46808 50759)	.											.	GFRA1-93	0			c.G296T						.						78.0	80.0	79.0					10																	118030372		2203	4300	6503	SO:0001583	missense	2674	exon3			CGCAGGCAGTTCT	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.296G>T	10.37:g.118030372C>A	ENSP00000347591:p.Cys99Phe	83	0		152	37	NM_005264	0	0	0	0	0	A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751246	0.89753	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000369234	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	4.55	4.55	0.56014	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	D	0.93595	0.7955	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.94708	0.7889	10	0.87932	D	0	-12.6975	17.377	0.87395	0.0:1.0:0.0:0.0	.	99;99	P56159;P56159-2	GFRA1_HUMAN;.	F	99	ENSP00000393725:C99F;ENSP00000358239:C99F;ENSP00000347591:C99F;ENSP00000358237:C99F	ENSP00000347591:C99F	C	-	2	0	GFRA1	118020362	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.784000	0.85713	2.085000	0.62840	0.555000	0.69702	TGC	.		0.627	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793	
PNLIP	5406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	118306857	118306857	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118306857G>T	ENST00000369221.2	+	3	126	c.98G>T	c.(97-99)tGg>tTg	p.W33L	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	33					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GACTCCCCATGGTCAGGAATT	0.423																																					p.W33L		.											.	PNLIP-92	0			c.G98T						.						92.0	89.0	90.0					10																	118306857		2203	4300	6503	SO:0001583	missense	5406	exon3			CCCCATGGTCAGG	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.98G>T	10.37:g.118306857G>T	ENSP00000358223:p.Trp33Leu	104	0		161	21	NM_000936	0	0	0	0	0	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733621	0.48939	.	.	ENSG00000175535	ENST00000369221	D	0.90261	-2.64	5.12	4.2	0.49525	Lipase, N-terminal (1);	0.177366	0.41294	D	0.000911	D	0.95411	0.8510	M	0.87758	2.905	0.58432	D	0.999993	D	0.89917	1.0	D	0.75020	0.985	D	0.95925	0.8934	10	0.72032	D	0.01	.	13.944	0.64073	0.0:0.0:0.8467:0.1533	.	33	P16233	LIPP_HUMAN	L	33	ENSP00000358223:W33L	ENSP00000358223:W33L	W	+	2	0	PNLIP	118296847	1.000000	0.71417	0.971000	0.41717	0.239000	0.25481	5.567000	0.67378	1.366000	0.46076	0.591000	0.81541	TGG	.		0.423	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	
PNLIP	5406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	118315585	118315585	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118315585T>G	ENST00000369221.2	+	9	913	c.885T>G	c.(883-885)gaT>gaG	p.D295E		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	295					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TCAACCCTGATGGCTTTGCTG	0.438																																					p.D295E		.											.	PNLIP-92	0			c.T885G						.						218.0	190.0	199.0					10																	118315585		2203	4300	6503	SO:0001583	missense	5406	exon9			CCCTGATGGCTTT	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.885T>G	10.37:g.118315585T>G	ENSP00000358223:p.Asp295Glu	104	0		184	45	NM_000936	0	0	0	0	0	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.394361	0.25205	.	.	ENSG00000175535	ENST00000369221	D	0.90788	-2.73	6.16	-0.223	0.13118	Lipase, N-terminal (1);	0.369709	0.26574	N	0.023608	T	0.79581	0.4470	L	0.37800	1.135	0.31238	N	0.69548	B	0.06786	0.001	B	0.12156	0.007	T	0.64525	-0.6387	10	0.06099	T	0.92	.	5.5218	0.16938	0.1235:0.3374:0.0:0.5391	.	295	P16233	LIPP_HUMAN	E	295	ENSP00000358223:D295E	ENSP00000358223:D295E	D	+	3	2	PNLIP	118305575	0.087000	0.21565	0.240000	0.24138	0.228000	0.25075	0.049000	0.14099	-0.264000	0.09365	0.528000	0.53228	GAT	.		0.438	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	
PNLIPRP1	5407	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	118350667	118350667	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118350667delT	ENST00000528052.1	+	2	97	c.26delT	c.(25-27)cttfs	p.L9fs	PNLIPRP1_ENST00000358834.4_Frame_Shift_Del_p.L9fs|PNLIPRP1_ENST00000442761.1_Frame_Shift_Del_p.L9fs|PNLIPRP1_ENST00000534537.1_Frame_Shift_Del_p.L9fs|PNLIPRP1_ENST00000480870.2_3'UTR			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	9					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACAATCACACTTTTCCTGCTG	0.493																																					p.L9fs		.											.	PNLIPRP1-154	0			c.26delT						.						86.0	75.0	78.0					10																	118350667		2203	4300	6503	SO:0001589	frameshift_variant	5407	exon2			TCACACTTTTCCT	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.26delT	10.37:g.118350667delT	ENSP00000433933:p.Leu9fs	38	0		69	19	NM_006229	0	0	0	0	0	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Frame_Shift_Del	DEL	ENST00000528052.1	37	CCDS7595.1																																																																																			.		0.493	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229	
PNLIPRP2	5408	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	118383552	118383552	+	RNA	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118383552C>A	ENST00000298771.7	+	0	171				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CCCTGGTCCCCCGAGGACATT	0.478																																					.		.											.	PNLIPRP2-67	0			.						.						109.0	105.0	106.0					10																	118383552		1898	4130	6028			5408	.			GGTCCCCCGAGGA	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118383552C>A		111	1		209	51	.	0	0	0	0	0	A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37		.	.	.	.	.	.	.	.	.	.	C	13.82	2.352494	0.41700	.	.	ENSG00000165862	ENST00000537242	D	0.91843	-2.92	5.65	5.65	0.86999	Lipase, N-terminal (1);	0.000000	0.56097	D	0.000021	D	0.96228	0.8770	.	.	.	0.34824	D	0.73903	D	0.89917	1.0	D	0.80764	0.994	D	0.99712	1.1007	9	0.87932	D	0	.	18.4917	0.90851	0.0:1.0:0.0:0.0	.	49	P54317	LIPR2_HUMAN	H	49	ENSP00000446346:P49H	ENSP00000446346:P49H	P	+	2	0	PNLIPRP2	118373542	0.998000	0.40836	0.146000	0.22360	0.272000	0.26649	5.875000	0.69660	2.660000	0.90430	0.555000	0.69702	CCC	.		0.478	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396	
C10orf82	143379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	118424447	118424447	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118424447C>G	ENST00000369210.3	-	4	340	c.286G>C	c.(286-288)Gta>Cta	p.V96L	C10orf82_ENST00000588184.1_Missense_Mutation_p.V96L	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	96										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GGTTTCTTTACATATTTGCAT	0.493																																					p.V96L		.											.	C10orf82-90	0			c.G286C						.						69.0	79.0	75.0					10																	118424447		2203	4300	6503	SO:0001583	missense	143379	exon4			TCTTTACATATTT	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.286G>C	10.37:g.118424447C>G	ENSP00000358212:p.Val96Leu	32	0		46	7	NM_144661	0	0	0	0	0	B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	CCDS7596.1	.	.	.	.	.	.	.	.	.	.	C	4.280	0.051173	0.08243	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.39997	1.05	6.08	-12.2	0.00006	.	1.964930	0.01761	N	0.030563	T	0.17746	0.0426	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06607	-1.0817	10	0.09843	T	0.71	0.557	4.7758	0.13178	0.0827:0.4395:0.2515:0.2263	.	96	Q8WW14	CJ082_HUMAN	L	96	ENSP00000358212:V96L	ENSP00000358212:V96L	V	-	1	0	C10orf82	118414437	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-2.538000	0.00938	-2.865000	0.00325	-0.857000	0.03018	GTA	.		0.493	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661	
C10orf82	143379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	118425218	118425218	+	Missense_Mutation	SNP	C	C	G	rs144390968	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118425218C>G	ENST00000369210.3	-	3	229	c.175G>C	c.(175-177)Gca>Cca	p.A59P	C10orf82_ENST00000588184.1_Missense_Mutation_p.A59P	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	59										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GTGGCCACTGCGCAGCACAAT	0.552																																					p.A59P		.											.	C10orf82-90	0			c.G175C						.						114.0	104.0	108.0					10																	118425218		2203	4300	6503	SO:0001583	missense	143379	exon3			CCACTGCGCAGCA	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.175G>C	10.37:g.118425218C>G	ENSP00000358212:p.Ala59Pro	149	0		260	35	NM_144661	0	0	0	0	0	B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	CCDS7596.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397046	0.42512	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.48201	0.82	5.16	-10.3	0.00346	.	1.813090	0.02560	N	0.096683	T	0.35307	0.0927	N	0.22421	0.69	0.09310	N	1	P;P	0.46621	0.742;0.881	B;P	0.48873	0.395;0.593	T	0.57112	-0.7867	10	0.56958	D	0.05	-3.0E-4	5.4726	0.16678	0.1127:0.4205:0.066:0.4007	.	59;59	Q8WW14-3;Q8WW14	.;CJ082_HUMAN	P	59	ENSP00000358212:A59P	ENSP00000358212:A59P	A	-	1	0	C10orf82	118415208	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.456000	0.02377	-2.592000	0.00456	-0.310000	0.09108	GCA	C|1.000;T|0.000		0.552	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661	
VAX1	11023	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	118893665	118893665	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118893665G>T	ENST00000369206.5	-	3	858	c.859C>A	c.(859-861)Cgc>Agc	p.R287S	VAX1_ENST00000277905.2_Intron	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	287					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GAGGACAGGCGGCTGGCGACG	0.697																																					p.R287S		.											.	VAX1-92	0			c.C859A						.						16.0	20.0	19.0					10																	118893665		692	1591	2283	SO:0001583	missense	11023	exon3			ACAGGCGGCTGGC	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.859C>A	10.37:g.118893665G>T	ENSP00000358207:p.Arg287Ser	18	0		62	16	NM_001112704	0	0	0	0	0	B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899535	0.52227	.	.	ENSG00000148704	ENST00000369206	D	0.91740	-2.9	4.19	4.19	0.49359	.	0.062461	0.64402	D	0.000003	D	0.86961	0.6059	L	0.50333	1.59	0.47245	D	0.999368	P	0.39601	0.68	B	0.31686	0.134	D	0.85812	0.1380	10	0.11182	T	0.66	-9.2334	16.6896	0.85318	0.0:0.0:1.0:0.0	.	287	Q5SQQ9	VAX1_HUMAN	S	287	ENSP00000358207:R287S	ENSP00000358207:R287S	R	-	1	0	VAX1	118883655	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.935000	0.70145	2.161000	0.67846	0.297000	0.19635	CGC	.		0.697	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242	
VAX1	11023	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	118896161	118896161	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118896161C>A	ENST00000369206.5	-	2	250	c.251G>T	c.(250-252)gGg>gTg	p.G84V	VAX1_ENST00000277905.2_Missense_Mutation_p.G84V	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	84					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCGGATGGACCCCTTGGCATC	0.642																																					p.G84V		.											.	VAX1-92	0			c.G251T						.						45.0	38.0	40.0					10																	118896161		2200	4295	6495	SO:0001583	missense	11023	exon2			ATGGACCCCTTGG	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.251G>T	10.37:g.118896161C>A	ENSP00000358207:p.Gly84Val	207	2		325	74	NM_001112704	0	0	0	0	0	B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119624	0.77323	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.92699	-2.3;-3.09	3.76	3.76	0.43208	Homeodomain-like (1);	0.061556	0.64402	D	0.000003	D	0.94745	0.8304	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94987	0.8131	10	0.54805	T	0.06	-14.9746	15.7549	0.78015	0.0:1.0:0.0:0.0	.	84;84	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	V	84	ENSP00000277905:G84V;ENSP00000358207:G84V	ENSP00000277905:G84V	G	-	2	0	VAX1	118886151	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.228000	0.78079	1.929000	0.55896	0.455000	0.32223	GGG	.		0.642	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242	
VAX1	11023	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	118897336	118897336	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118897336G>T	ENST00000369206.5	-	1	231	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	VAX1_ENST00000277905.2_Missense_Mutation_p.L78M	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	78					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCTCGGACCAGGATCCGGCGG	0.667																																					p.L78M		.											.	VAX1-92	0			c.C232A						.						24.0	30.0	28.0					10																	118897336		2203	4300	6503	SO:0001583	missense	11023	exon1			GGACCAGGATCCG	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.232C>A	10.37:g.118897336G>T	ENSP00000358207:p.Leu78Met	50	0		146	58	NM_001112704	0	0	0	0	0	B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219567	0.39201	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.92545	-2.24;-3.06	3.82	3.82	0.43975	.	0.000000	0.64402	D	0.000005	D	0.93769	0.8008	L	0.58810	1.83	0.40982	D	0.984786	D;D	0.76494	0.998;0.999	D;D	0.87578	0.99;0.998	D	0.92754	0.6218	10	0.41790	T	0.15	-4.1746	8.8777	0.35356	0.1074:0.0:0.8926:0.0	.	78;78	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	M	78	ENSP00000277905:L78M;ENSP00000358207:L78M	ENSP00000277905:L78M	L	-	1	2	VAX1	118887326	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.418000	0.66429	1.676000	0.50930	0.305000	0.20034	CTG	.		0.667	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242	
KCNK18	338567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	118969655	118969655	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:118969655C>A	ENST00000334549.1	+	3	1000	c.1000C>A	c.(1000-1002)Cct>Act	p.P334T		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	334					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.P334V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTTAGAACACCCTAACTTCTT	0.423																																					p.P334T		.											.	KCNK18-91	2	Substitution - Missense(2)	lung(2)	c.C1000A						.						328.0	283.0	298.0					10																	118969655		2203	4300	6503	SO:0001583	missense	338567	exon3			GAACACCCTAACT	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.1000C>A	10.37:g.118969655C>A	ENSP00000334650:p.Pro334Thr	199	0		316	105	NM_181840	0	0	0	0	0	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139849	0.77775	.	.	ENSG00000186795	ENST00000334549	T	0.22945	1.93	5.4	4.45	0.53987	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.52364	1.645	0.58432	D	0.999996	B	0.33549	0.417	P	0.48334	0.574	T	0.05683	-1.0870	10	0.25751	T	0.34	.	16.1623	0.81730	0.1334:0.8666:0.0:0.0	.	334	Q7Z418	KCNKI_HUMAN	T	334	ENSP00000334650:P334T	ENSP00000334650:P334T	P	+	1	0	KCNK18	118959645	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	3.778000	0.55371	2.704000	0.92352	0.655000	0.94253	CCT	.		0.423	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840	
SLC18A2	6571	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	119003663	119003663	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:119003663C>A	ENST00000298472.5	+	3	446	c.303C>A	c.(301-303)acC>acA	p.T101T	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	101					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTCATCAGACCGCCACACAGC	0.512																																					p.T101T		.											.	SLC18A2-90	0			c.C303A						.						121.0	105.0	110.0					10																	119003663		2203	4300	6503	SO:0001819	synonymous_variant	6571	exon3			TCAGACCGCCACA	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.303C>A	10.37:g.119003663C>A		135	0		231	41	NM_003054	0	0	0	0	0	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	CCDS7599.1																																																																																			.		0.512	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054	
EMX2	2018	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	119305183	119305183	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:119305183G>T	ENST00000553456.3	+	2	1271	c.447G>T	c.(445-447)gcG>gcT	p.A149A	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Intron|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	149					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TGCACAACGCGCTGGCCCGAA	0.622																																					p.A149A		.											.	EMX2-90	0			c.G447T						.						66.0	56.0	59.0					10																	119305183		2203	4300	6503	SO:0001819	synonymous_variant	2018	exon2			CAACGCGCTGGCC	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.447G>T	10.37:g.119305183G>T		410	1		606	223	NM_004098	0	0	0	0	0	G3V305|Q96NN8|Q9BQF4	Silent	SNP	ENST00000553456.3	37	CCDS7601.1																																																																																			.		0.622	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098	
PRLHR	2834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	120353662	120353662	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:120353662G>C	ENST00000369169.1	-	1	1094	c.1095C>G	c.(1093-1095)acC>acG	p.T365T	PRLHR_ENST00000239032.2_Silent_p.T365T			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	365	Required for interaction with GRIP1, GRIP2 and PICK1.				feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CCACGCTGACGGTCATATTCT	0.587																																					p.T365T		.											.	PRLHR-90	0			c.C1095G						.						52.0	47.0	49.0					10																	120353662		2203	4300	6503	SO:0001819	synonymous_variant	2834	exon2			GCTGACGGTCATA	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.1095C>G	10.37:g.120353662G>C		161	0		331	53	NM_004248	0	0	0	0	0	O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	37	CCDS7606.1																																																																																			.		0.587	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248	
PRLHR	2834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	120354576	120354576	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:120354576C>A	ENST00000369169.1	-	1	180	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W	PRLHR_ENST00000239032.2_Missense_Mutation_p.G61W			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	61					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		ACGATCAGCCCCTTCAGCTGA	0.697																																					p.G61W		.											.	PRLHR-90	0			c.G181T						.						57.0	59.0	59.0					10																	120354576		2203	4299	6502	SO:0001583	missense	2834	exon2			TCAGCCCCTTCAG	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.181G>T	10.37:g.120354576C>A	ENSP00000358167:p.Gly61Trp	80	0		372	97	NM_004248	0	0	0	0	0	O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407399	0.62399	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.37058	1.22;1.22	4.97	4.97	0.65823	.	0.382752	0.26373	N	0.024753	T	0.20373	0.0490	N	0.08118	0	0.31857	N	0.621519	D	0.55800	0.973	B	0.43754	0.43	T	0.06807	-1.0806	10	0.32370	T	0.25	.	10.5604	0.45142	0.1382:0.7102:0.1516:0.0	.	61	P49683	PRLHR_HUMAN	W	61	ENSP00000239032:G61W;ENSP00000358167:G61W	ENSP00000239032:G61W	G	-	1	0	PRLHR	120344566	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.542000	0.45744	2.578000	0.87016	0.655000	0.94253	GGG	.		0.697	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248	
SFXN4	119559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	120921874	120921874	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:120921874C>T	ENST00000355697.2	-	3	249	c.230G>A	c.(229-231)aGc>aAc	p.S77N	SFXN4_ENST00000330036.6_Missense_Mutation_p.S77N|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	77					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		CGAGGCAGGGCTGGAAACATC	0.453																																					p.S77N		.											.	SFXN4-91	0			c.G230A						.						150.0	131.0	138.0					10																	120921874		2203	4300	6503	SO:0001583	missense	119559	exon3			GCAGGGCTGGAAA		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.230G>A	10.37:g.120921874C>T	ENSP00000347924:p.Ser77Asn	195	0		329	122	NM_213649	0	0	0	0	0	Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	c	1.409	-0.576096	0.03882	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.32023	1.47;1.47	3.41	-4.07	0.03975	.	1.173220	0.06399	N	0.718470	T	0.10723	0.0262	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23404	-1.0189	10	0.17832	T	0.49	-0.0157	4.0393	0.09743	0.3809:0.3345:0.0:0.2846	.	77	Q6P4A7	SFXN4_HUMAN	N	77	ENSP00000347924:S77N;ENSP00000333200:S77N	ENSP00000333200:S77N	S	-	2	0	SFXN4	120911864	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.227000	0.02950	-1.436000	0.01970	-1.144000	0.01866	AGC	.		0.453	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406	
SEC23IP	11196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	121685604	121685604	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:121685604G>T	ENST00000369075.3	+	13	2250	c.2178G>T	c.(2176-2178)gaG>gaT	p.E726D	SEC23IP_ENST00000543134.1_Missense_Mutation_p.E515D	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	726					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AAGGACAAGAGCAAAGTGCCC	0.433																																					p.E726D		.											.	SEC23IP-93	0			c.G2178T						.						87.0	78.0	81.0					10																	121685604		2203	4300	6503	SO:0001583	missense	11196	exon13			ACAAGAGCAAAGT	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2178G>T	10.37:g.121685604G>T	ENSP00000358071:p.Glu726Asp	134	0		168	68	NM_007190	0	0	0	0	0	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	4.498	0.092284	0.08632	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.43688	1.41;0.94	5.71	-3.95	0.04118	.	0.340899	0.34291	N	0.004092	T	0.17023	0.0409	N	0.22421	0.69	0.09310	N	0.999992	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.003	T	0.08911	-1.0699	10	0.19590	T	0.45	-9.6098	0.8291	0.01126	0.4205:0.1197:0.1936:0.2662	.	515;726	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	D	726;515	ENSP00000358071:E726D;ENSP00000438773:E515D	ENSP00000358071:E726D	E	+	3	2	SEC23IP	121675594	0.954000	0.32549	0.051000	0.19133	0.317000	0.28152	0.155000	0.16362	-0.562000	0.06086	0.591000	0.81541	GAG	.		0.433	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
TACC2	10579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	124008228	124008228	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:124008228C>T	ENST00000369005.1	+	20	8803	c.8463C>T	c.(8461-8463)gcC>gcT	p.A2821A	TACC2_ENST00000334433.3_Silent_p.A2821A|TACC2_ENST00000369000.1_Silent_p.A444A|TACC2_ENST00000360561.3_Silent_p.A869A|TACC2_ENST00000453444.2_Silent_p.A2748A|TACC2_ENST00000515603.1_Silent_p.A2699A|TACC2_ENST00000358010.1_Silent_p.A967A|TACC2_ENST00000260733.3_Silent_p.A899A|TACC2_ENST00000368999.1_Silent_p.A911A|TACC2_ENST00000515273.1_Silent_p.A2748A|TACC2_ENST00000369001.1_Silent_p.A448A|TACC2_ENST00000513429.1_Silent_p.A967A|TACC2_ENST00000369004.3_Silent_p.A881A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2821					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGAGCAAGCCCTGGCCGACC	0.562																																					p.A2821A		.											.	TACC2-296	0			c.C8463T						.						112.0	120.0	117.0					10																	124008228		2203	4300	6503	SO:0001819	synonymous_variant	10579	exon20			GCAAGCCCTGGCC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8463C>T	10.37:g.124008228C>T		110	0		181	33	NM_206862	0	0	0	0	0	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	3.377	-0.127132	0.06795	.	.	ENSG00000138162	ENST00000490979	.	.	.	5.29	-0.283	0.12874	.	.	.	.	.	T	0.42017	0.1184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	-17.4476	1.9848	0.03434	0.3084:0.2305:0.3353:0.1258	.	.	.	.	L	65	.	.	P	+	2	0	TACC2	123998218	0.072000	0.21174	0.997000	0.53966	0.212000	0.24457	-0.286000	0.08399	-0.006000	0.14370	-0.181000	0.13052	CCC	.		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
DMBT1	1755	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	124402801	124402801	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:124402801G>C	ENST00000338354.3	+	53	7235	c.7129G>C	c.(7129-7131)Ggc>Cgc	p.G2377R	DMBT1_ENST00000344338.3_Missense_Mutation_p.G2367R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1749R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G1097R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G2367R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1749R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G2377R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2377	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGCTACCGAGGCTGTGTGTT	0.602																																					p.G2377R	Ovarian(182;93 2026 18125 22222 38972)	.											.	DMBT1-494	0			c.G7129C						.						114.0	117.0	116.0					10																	124402801		2076	4220	6296	SO:0001583	missense	1755	exon53			TACCGAGGCTGTG		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7129G>C	10.37:g.124402801G>C	ENSP00000342210:p.Gly2377Arg	304	2		570	143	NM_007329	0	0	0	0	0	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	G	17.21	3.332037	0.60853	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.28	5.28	0.74379	Zona pellucida sperm-binding protein (3);	0.203356	0.23866	U	0.043795	D	0.93044	0.7786	M	0.90705	3.14	0.52501	D	0.999959	D;B;D;D;D;D;D	0.89917	1.0;0.043;1.0;1.0;1.0;1.0;1.0	D;B;D;D;D;D;D	0.97110	1.0;0.012;1.0;1.0;1.0;1.0;1.0	D	0.94215	0.7462	10	0.87932	D	0	.	18.9486	0.92632	0.0:0.0:1.0:0.0	.	1097;2357;1626;2506;1749;2367;2377	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	R	2377;2506;2377;2377;2377;2376;1749;2367;1749;1749;2377;2367;1749;523;1097	ENSP00000342210:G2377R;ENSP00000343175:G2367R;ENSP00000327747:G1749R;ENSP00000357905:G2377R;ENSP00000357951:G2367R;ENSP00000357952:G1749R;ENSP00000352593:G1097R	ENSP00000331522:G1749R	G	+	1	0	DMBT1	124392791	1.000000	0.71417	0.920000	0.36463	0.044000	0.14063	7.727000	0.84838	2.479000	0.83701	0.655000	0.94253	GGC	.		0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
HMX2	3167	broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	124909282	124909282	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:124909282C>A	ENST00000339992.3	+	2	722	c.465C>A	c.(463-465)gtC>gtA	p.V155V		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	155					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CGCGCACCGTCTTTTCGCGCA	0.726																																					p.V155V		.											.	HMX2-90	0			c.C465A						.						11.0	11.0	11.0					10																	124909282		2171	4251	6422	SO:0001819	synonymous_variant	3167	exon2			CACCGTCTTTTCG		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.465C>A	10.37:g.124909282C>A		98	1		196	29	NM_005519	0	0	0	0	0	B2RNV5	Silent	SNP	ENST00000339992.3	37	CCDS31305.1																																																																																			.		0.726	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580	
CPXM2	119587	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	125530486	125530486	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:125530486C>A	ENST00000241305.3	-	8	1202	c.1048G>T	c.(1048-1050)Ggc>Tgc	p.G350C	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	350					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGCTTCAGGCCCTGGTGGCTT	0.463																																					p.G350C		.											.	CPXM2-92	0			c.G1048T						.						269.0	276.0	274.0					10																	125530486		2203	4300	6503	SO:0001583	missense	119587	exon8			TCAGGCCCTGGTG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1048G>T	10.37:g.125530486C>A	ENSP00000241305:p.Gly350Cys	146	2		247	85	NM_198148	0	0	0	0	0	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459282	0.84317	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.07908	3.15	4.42	4.42	0.53409	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64279	-0.6445	10	0.87932	D	0	-14.6304	17.2256	0.86969	0.0:1.0:0.0:0.0	.	350	Q8N436	CPXM2_HUMAN	C	350;183;350	ENSP00000241305:G350C	ENSP00000241305:G350C	G	-	1	0	CPXM2	125520476	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.645000	0.83430	2.271000	0.75665	0.591000	0.81541	GGC	.		0.463	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
CPXM2	119587	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	125530489	125530489	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:125530489G>T	ENST00000241305.3	-	8	1199	c.1045C>A	c.(1045-1047)Cag>Aag	p.Q349K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	349					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTCAGGCCCTGGTGGCTTTTT	0.463																																					p.Q349K		.											.	CPXM2-92	0			c.C1045A						.						272.0	280.0	277.0					10																	125530489		2203	4300	6503	SO:0001583	missense	119587	exon8			GGCCCTGGTGGCT	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1045C>A	10.37:g.125530489G>T	ENSP00000241305:p.Gln349Lys	154	3		246	80	NM_198148	0	0	0	0	0	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708793	0.30322	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.11604	2.76	4.42	4.42	0.53409	Peptidase M14, carboxypeptidase A (2);	0.295124	0.34932	N	0.003570	T	0.10895	0.0266	L	0.31294	0.92	0.80722	D	1	B	0.13594	0.008	B	0.23716	0.048	T	0.12993	-1.0526	10	0.37606	T	0.19	-19.3477	17.2256	0.86969	0.0:0.0:1.0:0.0	.	349	Q8N436	CPXM2_HUMAN	K	349;182;349	ENSP00000241305:Q349K	ENSP00000241305:Q349K	Q	-	1	0	CPXM2	125520479	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.426000	0.52778	2.271000	0.75665	0.591000	0.81541	CAG	.		0.463	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
FANK1	92565	broad.mit.edu	37	10	127585214	127585214	+	Start_Codon_SNP	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:127585214G>C	ENST00000368693.1	+	1	107	c.3G>C	c.(1-3)atG>atC	p.M1I	FANK1_ENST00000449042.2_5'UTR|FANK1_ENST00000368695.1_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	1						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AGCCGACCATGGAGCCCCAGA	0.761																																					p.M1I		.											.	FANK1-91	0			c.G3C						.						9.0	12.0	11.0					10																	127585214		2175	4262	6437	SO:0001582	initiator_codon_variant	92565	exon1			GACCATGGAGCCC	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.3G>C	10.37:g.127585214G>C	ENSP00000357682:p.Met1Ile	12	0		218	10	NM_145235	0	0	0	0	0	Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365761	0.24684	.	.	ENSG00000203780	ENST00000368693	T	0.37752	1.18	2.62	2.62	0.31277	.	.	.	.	.	T	0.27098	0.0664	.	.	.	0.80722	D	1	B;B	0.14805	0.003;0.011	B;B	0.15870	0.002;0.014	T	0.16158	-1.0412	8	0.54805	T	0.06	.	8.8836	0.35389	0.0:0.0:1.0:0.0	.	1;1	Q8TC84-3;Q8TC84	.;FANK1_HUMAN	I	1	ENSP00000357682:M1I	ENSP00000357682:M1I	M	+	3	0	FANK1	127575204	1.000000	0.71417	0.997000	0.53966	0.258000	0.26162	3.627000	0.54252	1.756000	0.51951	0.462000	0.41574	ATG	.		0.761	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235	Missense_Mutation
ADAM12	8038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	127806696	127806696	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:127806696C>A	ENST00000368679.4	-	6	832	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F	ADAM12_ENST00000368676.4_Missense_Mutation_p.V175F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	175					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.V175I(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GATCCCCGGACGCTTTTCAGC	0.463																																					p.V175F		.											.	ADAM12-716	3	Substitution - Missense(3)	endometrium(3)	c.G523T						.						196.0	171.0	179.0					10																	127806696		2203	4300	6503	SO:0001583	missense	8038	exon6			CCCGGACGCTTTT	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.523G>T	10.37:g.127806696C>A	ENSP00000357668:p.Val175Phe	135	0		235	54	NM_021641	0	0	0	0	0	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	2.926	-0.222096	0.06061	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.21543	4.78;2.0;3.73	5.03	-9.81	0.00487	.	1.225820	0.05704	N	0.594691	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.31680	0.226;0.335;0.335;0.335;0.103	B;B;B;B;B	0.34779	0.092;0.189;0.189;0.189;0.058	T	0.20306	-1.0279	10	0.13853	T	0.58	.	4.9588	0.14056	0.1842:0.484:0.0998:0.232	.	172;172;175;172;175	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	F	175;175;172	ENSP00000357668:V175F;ENSP00000357665:V175F;ENSP00000391268:V172F	ENSP00000357665:V175F	V	-	1	0	ADAM12	127796686	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.784000	0.00367	-1.828000	0.01202	-2.056000	0.00403	GTC	.		0.463	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
C10orf90	118611	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	128147643	128147643	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:128147643G>T	ENST00000284694.7	-	6	1983	c.1863C>A	c.(1861-1863)agC>agA	p.S621R	C10orf90_ENST00000454341.1_Missense_Mutation_p.S524R|C10orf90_ENST00000480379.1_Missense_Mutation_p.S25R|C10orf90_ENST00000356858.3_Missense_Mutation_p.S574R|C10orf90_ENST00000544758.1_Missense_Mutation_p.S718R	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	621	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACTGCTTCTTGCTGGTGCGGA	0.577																																					p.S621R		.											.	C10orf90-92	0			c.C1863A						.						156.0	118.0	131.0					10																	128147643		2203	4300	6503	SO:0001583	missense	118611	exon6			CTTCTTGCTGGTG	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1863C>A	10.37:g.128147643G>T	ENSP00000284694:p.Ser621Arg	100	1		200	64	NM_001004298	0	0	0	0	0	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.587|6.587	0.476688|0.476688	0.12521|0.12521	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000424927|ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	.|T;T;T;T	.|0.18016	.|2.27;2.24;2.26;2.25	5.01|5.01	3.06|3.06	0.35304|0.35304	.|.	.|0.783453	.|0.11119	.|N	.|0.597671	T|T	0.07683|0.07683	0.0193|0.0193	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999995|0.999995	.|B;B;B	.|0.33583	.|0.418;0.418;0.074	.|B;B;B	.|0.30943	.|0.122;0.122;0.029	T|T	0.23404|0.23404	-1.0189|-1.0189	5|10	.|0.11794	.|T	.|0.64	-9.7278|-9.7278	4.3577|4.3577	0.11187|0.11187	0.0869:0.1509:0.6068:0.1554|0.0869:0.1509:0.6068:0.1554	.|.	.|718;621;524	.|F5GZL2;Q96M02;Q96M02-2	.|.;CJ090_HUMAN;.	E|R	164|574;621;524;718;621	.|ENSP00000284694:S621R;ENSP00000398786:S524R;ENSP00000444369:S718R;ENSP00000405995:S621R	.|ENSP00000284694:S621R	A|S	-|-	2|3	0|2	C10orf90|C10orf90	128137633|128137633	0.968000|0.968000	0.33430|0.33430	0.839000|0.839000	0.33178|0.33178	0.826000|0.826000	0.46750|0.46750	1.370000|1.370000	0.34238|0.34238	1.323000|1.323000	0.45263|0.45263	0.655000|0.655000	0.94253|0.94253	GCA|AGC	.		0.577	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
C10orf90	118611	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	128153420	128153420	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:128153420C>G	ENST00000284694.7	-	4	1499	c.1379G>C	c.(1378-1380)tGt>tCt	p.C460S	C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000480379.1_5'Flank|C10orf90_ENST00000356858.3_Missense_Mutation_p.C413S|C10orf90_ENST00000544758.1_Missense_Mutation_p.C557S	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	460					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCTAGACAGACAGTCATCGCT	0.478																																					p.C460S		.											.	C10orf90-92	0			c.G1379C						.						114.0	110.0	111.0					10																	128153420		2203	4300	6503	SO:0001583	missense	118611	exon4			GACAGACAGTCAT	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1379G>C	10.37:g.128153420C>G	ENSP00000284694:p.Cys460Ser	164	0		279	25	NM_001004298	0	0	0	0	0	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	1.442	-0.567470	0.03910	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000544758;ENST00000432642	T;T;T	0.16597	2.33;2.34;2.33	4.17	0.985	0.19779	.	1.118330	0.06747	N	0.779376	T	0.10465	0.0256	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.18013	0.025;0.007	B;B	0.12156	0.007;0.007	T	0.39820	-0.9595	10	0.15066	T	0.55	0.4615	2.94	0.05826	0.0:0.4517:0.2369:0.3115	.	557;460	F5GZL2;Q96M02	.;CJ090_HUMAN	S	413;460;557;460	ENSP00000284694:C460S;ENSP00000444369:C557S;ENSP00000405995:C460S	ENSP00000284694:C460S	C	-	2	0	C10orf90	128143410	0.076000	0.21285	0.013000	0.15412	0.755000	0.42902	0.166000	0.16583	0.395000	0.25257	0.637000	0.83480	TGT	.		0.478	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
MGMT	4255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	131565118	131565118	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:131565118G>C	ENST00000306010.7	+	5	606	c.574G>C	c.(574-576)Gga>Cga	p.G192R	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	161					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CTACTCCGGAGGACTGGCCGT	0.657								Direct reversal of damage																													p.G192R		.											.	MGMT-1108	0			c.G574C						.						36.0	37.0	37.0					10																	131565118		2203	4300	6503	SO:0001583	missense	4255	exon5			TCCGGAGGACTGG	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.574G>C	10.37:g.131565118G>C	ENSP00000302111:p.Gly192Arg	220	0		338	41	NM_002412	0	0	0	0	0	Q5VY78	Missense_Mutation	SNP	ENST00000306010.7	37	CCDS7660.2	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490258	0.64074	.	.	ENSG00000170430	ENST00000306010	T	0.22336	1.96	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.92367	3.3	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	T	0.69465	-0.5138	10	0.87932	D	0	.	18.4481	0.90693	0.0:0.0:1.0:0.0	.	192	B4DEE8	.	R	192	ENSP00000302111:G192R	ENSP00000302111:G192R	G	+	1	0	MGMT	131455108	1.000000	0.71417	0.910000	0.35882	0.076000	0.17211	7.831000	0.86748	2.362000	0.80069	0.563000	0.77884	GGA	.		0.657	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412	
EBF3	253738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	131638572	131638572	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:131638572C>A	ENST00000355311.5	-	15	1768	c.1696G>T	c.(1696-1698)Gtg>Ttg	p.V566L	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.V521L			Q9H4W6	COE3_HUMAN	early B-cell factor 3	566					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGCCGGACCACGGGCGCGAAG	0.622																																					p.V521L		.											.	EBF3-91	0			c.G1561T						.						40.0	38.0	39.0					10																	131638572		2199	4294	6493	SO:0001583	missense	253738	exon15			GGACCACGGGCGC		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1696G>T	10.37:g.131638572C>A	ENSP00000347463:p.Val566Leu	125	0		207	30	NM_001005463	0	0	0	0	0	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.371658|4.371658	0.82573|0.82573	.|.	.|.	ENSG00000108001|ENSG00000108001	ENST00000440978|ENST00000355311;ENST00000368648	.|T;T	.|0.68025	.|-0.3;-0.3	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|0.262921	.|0.36034	.|N	.|0.002825	T|T	0.82047|0.82047	0.4952|0.4952	M|M	0.85542|0.85542	2.76|2.76	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.46952	.|0.887	.|P	.|0.58970	.|0.849	D|D	0.85232|0.85232	0.1033|0.1033	5|10	.|0.59425	.|D	.|0.04	-12.8126|-12.8126	17.6452|17.6452	0.88146|0.88146	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|521	.|Q9H4W6-2	.|.	L|L	127|566;521	.|ENSP00000347463:V566L;ENSP00000357637:V521L	.|ENSP00000347463:V566L	R|V	-|-	2|1	0|0	EBF3|EBF3	131528562|131528562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.766000|7.766000	0.85320|0.85320	2.220000|2.220000	0.72140|0.72140	0.462000|0.462000	0.41574|0.41574	CGT|GTG	.		0.622	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463	
JAKMIP3	282973	ucsc.edu;bcgsc.ca	37	10	133931066	133931066	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:133931066G>T	ENST00000298622.4	+	2	759	c.621G>T	c.(619-621)gaG>gaT	p.E207D		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	207						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		gcgagcgggagatccgcaggc	0.697																																					p.E207D		.											.	JAKMIP3-23	0			c.G621T						.						12.0	13.0	12.0					10																	133931066		2011	4129	6140	SO:0001583	missense	282973	exon2			GCGGGAGATCCGC	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.621G>T	10.37:g.133931066G>T	ENSP00000298622:p.Glu207Asp	114	2		233	86	NM_001105521	0	0	0	0	0	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	3.089	-0.187320	0.06299	.	.	ENSG00000188385	ENST00000298622	T	0.29655	1.56	4.66	3.74	0.42951	.	0.054685	0.64402	N	0.000001	T	0.14313	0.0346	N	0.12569	0.235	0.28091	N	0.931799	B	0.06786	0.001	B	0.08055	0.003	T	0.22452	-1.0216	10	0.12430	T	0.62	-32.3029	8.0937	0.30816	0.0897:0.3319:0.5784:0.0	.	207	Q5VZ66	JKIP3_HUMAN	D	207	ENSP00000298622:E207D	ENSP00000298622:E207D	E	+	3	2	JAKMIP3	133781056	0.991000	0.36638	1.000000	0.80357	0.987000	0.75469	0.236000	0.17967	1.132000	0.42129	0.591000	0.81541	GAG	.		0.697	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	
PWWP2B	170394	hgsc.bcm.edu	37	10	134218296	134218296	+	Missense_Mutation	SNP	C	C	G	rs10747057	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:134218296C>G	ENST00000305233.5	+	2	351	c.292C>G	c.(292-294)Cgc>Ggc	p.R98G	PWWP2B_ENST00000368609.4_Missense_Mutation_p.R98G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	98	Pro-rich.		R -> G (in dbSNP:rs10747057). {ECO:0000269|PubMed:15489334}.							central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGAGACCACCCGCCCCGAGCC	0.756													G|||	2967	0.592452	0.7065	0.5461	5008	,	,		5878	0.6954		0.4563	False		,,,				2504	0.5051				p.R98G		.											.	PWWP2B-90	0			c.C292G						.	G	GLY/ARG,GLY/ARG	2822,1070		1079,664,203	6.0	9.0	8.0		292,292	2.8	0.0	10	dbSNP_120	8	3931,3905		1096,1739,1083	no	missense,missense	PWWP2B	NM_001098637.1,NM_138499.3	125,125	2175,2403,1286	GG,GC,CC		49.8341,27.4923,42.4198	benign,benign	98/500,98/591	134218296	6753,4975	1946	3918	5864	SO:0001583	missense	170394	exon2			ACCACCCGCCCCG	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.292C>G	10.37:g.134218296C>G	ENSP00000306324:p.Arg98Gly	0	0		21	14	NM_001098637	0	0	0	0	0	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	CCDS7667.2	1241	0.5682234432234432	337	0.6849593495934959	177	0.4889502762430939	394	0.6888111888111889	333	0.4393139841688654	G	0.032	-1.327586	0.01309	0.725077	0.501659	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.54675	0.56;1.56	2.77	2.77	0.32553	.	1.934230	0.03132	N	0.165319	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44003	-0.9356	9	0.23302	T	0.38	0.1321	1.7392	0.02948	0.1217:0.2122:0.4474:0.2187	rs10747057;rs57970936	98	Q6NUJ5	PWP2B_HUMAN	G	98	ENSP00000306324:R98G;ENSP00000357598:R98G	ENSP00000306324:R98G	R	+	1	0	PWWP2B	134068286	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-1.230000	0.02942	0.744000	0.32741	-0.224000	0.12420	CGC	C|0.431;G|0.569		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499	
PWWP2B	170394	hgsc.bcm.edu	37	10	134219066	134219066	+	Silent	SNP	G	G	C	rs76595411	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:134219066G>C	ENST00000305233.5	+	2	1121	c.1062G>C	c.(1060-1062)gtG>gtC	p.V354V	PWWP2B_ENST00000368609.4_Silent_p.V354V	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	354										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCGAGCTGGTGGGGGAGCTGA	0.726													G|||	150	0.0299521	0.0083	0.0504	5008	,	,		14238	0.002		0.0636	False		,,,				2504	0.0389				p.V354V		.											.	PWWP2B-90	0			c.G1062C						.	G	,	58,4234		0,58,2088	21.0	26.0	24.0		1062,1062	-1.9	0.8	10	dbSNP_132	24	487,7941		17,453,3744	no	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	17,511,5832	CC,CG,GG		5.7784,1.3514,4.2846	,	354/500,354/591	134219066	545,12175	2146	4214	6360	SO:0001819	synonymous_variant	170394	exon2			GCTGGTGGGGGAG	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1062G>C	10.37:g.134219066G>C		3	0		40	25	NM_001098637	0	0	0	0	0	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			G|0.955;C|0.045		0.726	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499	
CFAP46	54777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	134648207	134648207	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:134648207C>T	ENST00000368586.5	-	48	6917	c.6817G>A	c.(6817-6819)Gag>Aag	p.E2273K	TTC40_ENST00000263170.5_Missense_Mutation_p.E434K	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGAAGCTCCTCCAGGGGCCCC	0.632																																					p.E2273K		.											.	.	0			c.G6817A						.						31.0	35.0	34.0					10																	134648207		2203	4300	6503	SO:0001583	missense	54777	exon48			GCTCCTCCAGGGG																												ENST00000368586.5:c.6817G>A	10.37:g.134648207C>T	ENSP00000357575:p.Glu2273Lys	154	0		239	68	NM_001200049	0	0	0	0	0		Missense_Mutation	SNP	ENST00000368586.5	37	CCDS58101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.688306|3.688306	0.68271|0.68271	.|.	.|.	ENSG00000171811|ENSG00000171811	ENST00000368586;ENST00000263170|ENST00000448925	T;T|.	0.22539|.	2.05;1.95|.	3.58|3.58	3.58|3.58	0.41010|0.41010	.|.	0.853808|.	0.09947|.	N|.	0.735152|.	T|.	0.64929|.	0.2643|.	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.67145|.	0.996|.	D|.	0.75484|.	0.986|.	T|.	0.64525|.	-0.6387|.	10|.	0.72032|.	D|.	0.01|.	.|.	10.8737|10.8737	0.46899|0.46899	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	434|.	Q8IYW2|.	CJ092_HUMAN|.	K|X	2273;434|41	ENSP00000357575:E2273K;ENSP00000263170:E434K|.	ENSP00000263170:E434K|.	E|W	-|-	1|3	0|0	C10orf93|C10orf93	134498197|134498197	0.330000|0.330000	0.24705|0.24705	0.612000|0.612000	0.29024|0.29024	0.082000|0.082000	0.17680|0.17680	1.535000|1.535000	0.36061|0.36061	1.997000|1.997000	0.58415|0.58415	0.462000|0.462000	0.41574|0.41574	GAG|TGG	.		0.632	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		
CFAP46	54777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	134663902	134663902	+	Missense_Mutation	SNP	C	C	T	rs143782266	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:134663902C>T	ENST00000368586.5	-	41	5898	c.5798G>A	c.(5797-5799)gGg>gAg	p.G1933E	TTC40_ENST00000263170.5_Missense_Mutation_p.G94E	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGCCAGTGCCCCGTGTGCTAG	0.677																																					p.G1933E		.											.	.	0			c.G5798A						.						23.0	16.0	18.0					10																	134663902		2193	4283	6476	SO:0001583	missense	54777	exon41			AGTGCCCCGTGTG																												ENST00000368586.5:c.5798G>A	10.37:g.134663902C>T	ENSP00000357575:p.Gly1933Glu	103	0		346	92	NM_001200049	0	0	0	0	0		Missense_Mutation	SNP	ENST00000368586.5	37	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	0.186	-1.057567	0.01965	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.10668	3.08;2.85	4.14	-8.27	0.01017	.	3.458170	0.01269	N	0.009401	T	0.05593	0.0147	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45131	-0.9282	10	0.02654	T	1	.	1.5	0.02474	0.181:0.2812:0.3514:0.1865	.	94	Q8IYW2	CJ092_HUMAN	E	1933;94	ENSP00000357575:G1933E;ENSP00000263170:G94E	ENSP00000263170:G94E	G	-	2	0	C10orf93	134513892	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.017000	0.00312	-2.498000	0.00512	-1.899000	0.00529	GGG	C|0.999;G|0.001		0.677	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		
CFAP46	54777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	134664665	134664665	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:134664665C>A	ENST00000368586.5	-	40	5819	c.5719G>T	c.(5719-5721)Gcg>Tcg	p.A1907S	TTC40_ENST00000263170.5_Missense_Mutation_p.A68S	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGATAGTCCGCCAGCAGCTTC	0.617																																					p.A1907S		.											.	.	0			c.G5719T						.						81.0	79.0	80.0					10																	134664665		2203	4300	6503	SO:0001583	missense	54777	exon40			AGTCCGCCAGCAG																												ENST00000368586.5:c.5719G>T	10.37:g.134664665C>A	ENSP00000357575:p.Ala1907Ser	145	0		209	31	NM_001200049	0	0	0	0	0		Missense_Mutation	SNP	ENST00000368586.5	37	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	7.007	0.556007	0.13436	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.12672	2.9;2.66	4.79	1.63	0.23807	.	0.706817	0.11589	N	0.548999	T	0.10594	0.0259	L	0.36672	1.1	0.09310	N	1	B	0.28998	0.23	B	0.25140	0.058	T	0.26052	-1.0114	10	0.44086	T	0.13	.	8.0075	0.30334	0.3202:0.5245:0.1553:0.0	.	68	Q8IYW2	CJ092_HUMAN	S	1907;68	ENSP00000357575:A1907S;ENSP00000263170:A68S	ENSP00000263170:A68S	A	-	1	0	C10orf93	134514655	0.000000	0.05858	0.033000	0.17914	0.055000	0.15305	0.001000	0.13038	0.418000	0.25898	0.655000	0.94253	GCG	.		0.617	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		
TUBGCP2	10844	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	135106162	135106162	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:135106162C>A	ENST00000252936.3	-	7	1094	c.1055G>T	c.(1054-1056)gGg>gTg	p.G352V	TUBGCP2_ENST00000368563.2_Missense_Mutation_p.G352V|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G380V|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G222V|TUBGCP2_ENST00000368562.1_5'Flank|RP11-122K13.12_ENST00000424450.1_RNA			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	352					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CGTGGACCCCCCAAGACATTC	0.622																																					p.G380V		.											.	TUBGCP2-90	0			c.G1139T						.						82.0	74.0	77.0					10																	135106162		2203	4300	6503	SO:0001583	missense	10844	exon9			GACCCCCCAAGAC	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1055G>T	10.37:g.135106162C>A	ENSP00000252936:p.Gly352Val	113	2		226	68	NM_001256617	0	0	0	0	0	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474224	0.63737	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000543663	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.65886	-0.6059	10	0.87932	D	0	-57.4059	16.9761	0.86313	0.0:1.0:0.0:0.0	.	380;380;352	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	V	352;222;352;380	ENSP00000252936:G352V;ENSP00000395666:G222V;ENSP00000357551:G352V;ENSP00000446093:G380V	ENSP00000252936:G352V	G	-	2	0	TUBGCP2	134956152	1.000000	0.71417	0.990000	0.47175	0.030000	0.12068	7.509000	0.81698	2.426000	0.82243	0.484000	0.47621	GGG	.		0.622	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1		
ZNF511	118472	hgsc.bcm.edu	37	10	135122507	135122507	+	Silent	SNP	G	G	A	rs3008357	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:135122507G>A	ENST00000359035.3	+	1	63	c.60G>A	c.(58-60)ccG>ccA	p.P20P	TUBGCP2_ENST00000368563.2_5'UTR|TUBGCP2_ENST00000417178.2_5'Flank|TUBGCP2_ENST00000470829.1_5'UTR|ZNF511_ENST00000368554.4_5'Flank|ZNF511_ENST00000361518.5_Silent_p.P20P			Q8NB15	ZN511_HUMAN	zinc finger protein 511	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CGGCGGAGCCGCTGCCTGTAG	0.781													A|||	1022	0.204073	0.3828	0.2176	5008	,	,		7110	0.0635		0.1511	False		,,,				2504	0.1524				p.P20P		.											.	ZNF511-90	0			c.G60A						.						2.0	2.0	2.0					10																	135122507		1305	2802	4107	SO:0001819	synonymous_variant	118472	exon1			GGAGCCGCTGCCT	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.60G>A	10.37:g.135122507G>A		0	0		39	15	NM_145806	0	0	0	0	0	A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	ENST00000359035.3	37																																																																																				G|0.816;A|0.184		0.781	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806	
ECHS1	1892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	135179540	135179540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:135179540C>A	ENST00000368547.3	-	6	1034	c.679G>T	c.(679-681)Gaa>Taa	p.E227*		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	227					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GCAATTTTTTCTGCACACTGG	0.468																																					p.E227X	GBM(132;1720 1771 5373 10277 21402)	.											.	ECHS1-90	0			c.G679T						.						180.0	152.0	162.0					10																	135179540		2203	4300	6503	SO:0001587	stop_gained	1892	exon6			TTTTTTCTGCACA		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.679G>T	10.37:g.135179540C>A	ENSP00000357535:p.Glu227*	78	0		127	28	NM_004092	0	0	0	0	0	O00739|Q5VWY1|Q96H54	Nonsense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	C	40	8.294809	0.98747	.	.	ENSG00000127884	ENST00000368547	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	15.0604	0.71947	0.0:1.0:0.0:0.0	.	.	.	.	X	227	.	ENSP00000357535:E227X	E	-	1	0	ECHS1	135029530	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.138000	0.71717	2.701000	0.92244	0.555000	0.69702	GAA	.		0.468	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1		
MTG1	92170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	135209699	135209699	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:135209699G>T	ENST00000317502.6	+	3	260	c.210G>T	c.(208-210)caG>caT	p.Q70H	MTG1_ENST00000477902.2_Missense_Mutation_p.Q29H|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.Q75H	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	70	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CTCTGTTTCAGGAAACCCTTG	0.478																																					p.Q70H		.											.	MTG1-91	0			c.G210T						.						205.0	211.0	209.0					10																	135209699		2203	4300	6503	SO:0001583	missense	92170	exon3			GTTTCAGGAAACC		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.210G>T	10.37:g.135209699G>T	ENSP00000323047:p.Gln70His	89	0		146	24	NM_138384	0	0	0	0	0	Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	g	15.69	2.907092	0.52333	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.13657	2.57;2.57;2.57	5.4	2.54	0.30619	.	1.537360	0.04190	N	0.328237	T	0.23532	0.0569	M	0.70595	2.14	0.50313	D	0.99986	B	0.32543	0.375	B	0.39068	0.289	T	0.01972	-1.1237	10	0.38643	T	0.18	-16.2777	8.3368	0.32219	0.2659:0.0:0.7341:0.0	.	70	Q9BT17	MTG1_HUMAN	H	75;70;70;29	ENSP00000436767:Q75H;ENSP00000323047:Q70H;ENSP00000393480:Q70H	ENSP00000323047:Q70H	Q	+	3	2	AL360181.1;MTG1	135059689	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	2.649000	0.46656	0.258000	0.21686	0.478000	0.44815	CAG	.		0.478	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384	
ANO9	338440	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	418479	418479	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:418479C>T	ENST00000332826.6	-	23	2325	c.2241G>A	c.(2239-2241)atG>atA	p.M747I	SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	747					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TTCCATGCCACATCTTCTCAC	0.617																																					p.M747I		.											.	ANO9-227	0			c.G2241A						.						104.0	92.0	96.0					11																	418479		2203	4300	6503	SO:0001583	missense	338440	exon23			ATGCCACATCTTC	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2241G>A	11.37:g.418479C>T	ENSP00000332788:p.Met747Ile	156	1		126	60	NM_001012302	0	0	0	0	0	B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	c	10.40	1.339678	0.24339	.	.	ENSG00000185101	ENST00000332826	T	0.65178	-0.14	3.64	-0.418	0.12344	.	4.389870	0.00934	N	0.002757	T	0.41880	0.1178	N	0.08118	0	0.09310	N	1	B;B	0.20887	0.047;0.049	B;B	0.24006	0.05;0.022	T	0.25676	-1.0125	10	0.27082	T	0.32	.	6.0643	0.19854	0.0:0.4007:0.2346:0.3647	.	448;747	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	I	747	ENSP00000332788:M747I	ENSP00000332788:M747I	M	-	3	0	ANO9	408479	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.126000	0.15769	0.049000	0.15920	-0.362000	0.07510	ATG	.		0.617	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302	
PHRF1	57661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	607214	607214	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:607214A>T	ENST00000264555.5	+	14	1886	c.1758A>T	c.(1756-1758)caA>caT	p.Q586H	PHRF1_ENST00000416188.2_Missense_Mutation_p.Q585H|PHRF1_ENST00000533464.1_Missense_Mutation_p.Q582H|PHRF1_ENST00000413872.2_Missense_Mutation_p.Q584H	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	586					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCAGCTGTCAAGGCAGGTCCC	0.692																																					p.Q585H		.											.	PHRF1-22	0			c.A1755T						.						31.0	36.0	34.0					11																	607214		1860	4107	5967	SO:0001583	missense	57661	exon14			CTGTCAAGGCAGG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1758A>T	11.37:g.607214A>T	ENSP00000264555:p.Gln586His	21	0		45	32	NM_020901	0	0	0	0	0	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37		.	.	.	.	.	.	.	.	.	.	A	13.15	2.152474	0.38021	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	4.45	-5.17	0.02849	.	1.603660	0.03956	N	0.289211	T	0.58061	0.2096	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.36890	-0.9729	10	0.27785	T	0.31	0.2896	3.9731	0.09462	0.3628:0.4173:0.1264:0.0934	.	582;584;585;586	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	H	586;584;585;582	ENSP00000264555:Q586H;ENSP00000388589:Q584H;ENSP00000410626:Q585H;ENSP00000431870:Q582H	ENSP00000264555:Q586H	Q	+	3	2	PHRF1	597214	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-1.121000	0.03270	-0.873000	0.04032	-0.464000	0.05259	CAA	.		0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901	
EPS8L2	64787	bcgsc.ca	37	11	721570	721570	+	Silent	SNP	C	C	T	rs7635	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:721570C>T	ENST00000533256.1	+	11	1149	c.774C>T	c.(772-774)atC>atT	p.I258I	EPS8L2_ENST00000530636.1_Silent_p.I258I|EPS8L2_ENST00000526198.1_Silent_p.I274I|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.I258I			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	258					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGCAAATCCTCAACTGCG	0.637													c|||	1401	0.279752	0.1884	0.5648	5008	,	,		14025	0.1746		0.4155	False		,,,				2504	0.1697				p.I258I		.											.	EPS8L2-91	0			c.C774T						.			970,3408		127,716,1346	22.0	27.0	26.0		774	3.8	1.0	11	dbSNP_52	26	3854,4700		888,2078,1311	no	coding-synonymous	EPS8L2	NM_022772.3		1015,2794,2657	TT,TC,CC		45.0549,22.1562,37.3028		258/716	721570	4824,8108	2189	4277	6466	SO:0001819	synonymous_variant	64787	exon10			GCAAATCCTCAAC	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.774C>T	11.37:g.721570C>T		162	1		175	6	NM_022772	0	0	0	0	0	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	CCDS31328.1																																																																																			C|0.686;T|0.314		0.637	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772	
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	1269567	1269567	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:1269567G>T	ENST00000529681.1	+	31	11515	c.11457G>T	c.(11455-11457)atG>atT	p.M3819I	MUC5B_ENST00000447027.1_Missense_Mutation_p.M3822I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3819	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCACCATGTCCACAGCCA	0.652																																					p.M3819I		.											.	.	0			c.G11457T						.						54.0	76.0	68.0					11																	1269567		2042	4157	6199	SO:0001583	missense	727897	exon31			CACCATGTCCACA	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11457G>T	11.37:g.1269567G>T	ENSP00000436812:p.Met3819Ile	740	1		599	261	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	4.177	0.031490	0.08101	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18502	2.21;2.39	3.01	-6.03	0.02185	.	.	.	.	.	T	0.09642	0.0237	L	0.27053	0.805	0.09310	N	1	B;B	0.19706	0.038;0.038	B;B	0.08055	0.002;0.003	T	0.22695	-1.0209	9	0.87932	D	0	.	5.9985	0.19507	0.2189:0.0:0.4122:0.3689	.	4347;3822	A7Y9J9;E9PBJ0	.;.	I	3819;3822;3763;3724	ENSP00000436812:M3819I;ENSP00000415793:M3822I	ENSP00000343037:M3763I	M	+	3	0	MUC5B	1226143	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-1.495000	0.02294	-3.394000	0.00172	0.194000	0.17425	ATG	.		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
BRSK2	9024	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	1464775	1464775	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:1464775G>T	ENST00000528841.1	+	8	1074	c.690G>T	c.(688-690)cgG>cgT	p.R230R	BRSK2_ENST00000382179.1_Silent_p.R276R|BRSK2_ENST00000531197.1_Silent_p.R230R|BRSK2_ENST00000308230.5_Silent_p.R230R|BRSK2_ENST00000526678.1_Silent_p.R230R|BRSK2_ENST00000308219.9_Silent_p.R230R|BRSK2_ENST00000528710.1_Silent_p.R170R|BRSK2_ENST00000544817.1_5'UTR			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGGTGAAGCGGGGCGTGTTCC	0.682																																					p.R276R		.											.	BRSK2-333	0			c.G828T						.						23.0	28.0	27.0					11																	1464775		2178	4290	6468	SO:0001819	synonymous_variant	9024	exon8			GAAGCGGGGCGTG	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.690G>T	11.37:g.1464775G>T		51	0		62	34	NM_001256630	0	0	0	0	0	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	CCDS58107.1																																																																																			.		0.682	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957	
KRTAP5-1	387264	broad.mit.edu	37	11	1606164	1606164	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:1606164T>G	ENST00000382171.2	-	1	349	c.316A>C	c.(316-318)Aag>Cag	p.K106Q	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	106	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCCCCCCTTGGAGCCCCCA	0.677																																					p.K106Q		.											.	KRTAP5-1-44	0			c.A316C						.						36.0	52.0	46.0					11																	1606164		2139	4246	6385	SO:0001583	missense	387264	exon1			CCCCCTTGGAGCC	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.316A>C	11.37:g.1606164T>G	ENSP00000371606:p.Lys106Gln	104	2		86	7	NM_001005922	0	0	0	0	0		Missense_Mutation	SNP	ENST00000382171.2	37	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	T	0.039	-1.294467	0.01375	.	.	ENSG00000205869	ENST00000382171	T	0.05447	3.44	3.58	1.13	0.20643	.	.	.	.	.	T	0.07052	0.0179	M	0.64567	1.98	0.09310	N	1	B	0.17268	0.021	B	0.16722	0.016	T	0.40887	-0.9539	9	0.26408	T	0.33	.	4.4931	0.11824	0.0:0.1143:0.1992:0.6865	.	106	Q6L8H4	KRA51_HUMAN	Q	106	ENSP00000371606:K106Q	ENSP00000371606:K106Q	K	-	1	0	KRTAP5-1	1562740	0.033000	0.19621	0.008000	0.14137	0.003000	0.03518	0.000000	0.12993	-0.063000	0.13065	-0.836000	0.03065	AAG	.		0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922	
C11orf40	143501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	4592668	4592668	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:4592668C>G	ENST00000307616.1	-	4	638	c.639G>C	c.(637-639)ttG>ttC	p.L213F		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	213										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		gcagggacttcaagtagttca	0.418																																					p.L213F		.											.	C11orf40-92	0			c.G639C						.						82.0	72.0	75.0					11																	4592668		1989	3819	5808	SO:0001583	missense	143501	exon4			GGACTTCAAGTAG		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.639G>C	11.37:g.4592668C>G	ENSP00000302918:p.Leu213Phe	70	0		37	22	NM_144663	0	0	0	0	0		Missense_Mutation	SNP	ENST00000307616.1	37	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	C	3.354	-0.132015	0.06753	.	.	ENSG00000171987	ENST00000307616	T	0.57273	0.41	0.56	-1.12	0.09808	.	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.40506	0.331	T	0.17531	-1.0366	8	0.87932	D	0	.	.	.	.	.	213	Q8WZ69	CK040_HUMAN	F	213	ENSP00000302918:L213F	ENSP00000302918:L213F	L	-	3	2	C11orf40	4549244	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.722000	0.04958	-0.484000	0.06763	0.185000	0.17295	TTG	.		0.418	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663	
OR51A4	401666	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	4968178	4968178	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:4968178G>T	ENST00000380373.2	-	1	178	c.153C>A	c.(151-153)atC>atA	p.I51I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTGTCTTGATGATAAAAA	0.433																																					p.I51I		.											.	OR51A4-71	0			c.C153A						.						130.0	120.0	123.0					11																	4968178		2197	4298	6495	SO:0001819	synonymous_variant	401666	exon1			TGTCTTGATGATA	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.153C>A	11.37:g.4968178G>T		794	1		510	300	NM_001005329	0	0	0	0	0		Silent	SNP	ENST00000380373.2	37	CCDS31367.1																																																																																			.		0.433	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329	
OR52E8	390079	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	5878658	5878658	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:5878658C>G	ENST00000537935.1	-	1	306	c.275G>C	c.(274-276)tGg>tCg	p.W92S	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTATTGAACCAGAAGATGCC	0.473																																					p.W92S		.											.	OR52E8-70	0			c.G275C						.						146.0	164.0	158.0					11																	5878658		2147	4296	6443	SO:0001583	missense	390079	exon1			TTGAACCAGAAGA	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.275G>C	11.37:g.5878658C>G	ENSP00000444054:p.Trp92Ser	158	1		113	62	NM_001005168	0	0	0	0	0	B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958346	0.34565	.	.	ENSG00000183269	ENST00000537935	T	0.00392	7.58	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000069	T	0.01156	0.0038	M	0.85945	2.785	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.65080	-0.6255	10	0.87932	D	0	.	15.6856	0.77409	0.0:1.0:0.0:0.0	.	92	Q6IFG1	O52E8_HUMAN	S	92	ENSP00000444054:W92S	ENSP00000444054:W92S	W	-	2	0	OR52E8	5835234	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	2.470000	0.45119	2.353000	0.79882	0.549000	0.68633	TGG	.		0.473	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168	
FAM160A2	84067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	6245247	6245247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:6245247C>A	ENST00000449352.2	-	3	633	c.370G>T	c.(370-372)Gag>Tag	p.E124*	FAM160A2_ENST00000265978.4_Nonsense_Mutation_p.E124*|FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E124*			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	124					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCCGTTCCTCGACCCCATCC	0.592																																					p.E124X		.											.	FAM160A2-92	0			c.G370T						.						52.0	45.0	48.0					11																	6245247		2201	4296	6497	SO:0001587	stop_gained	84067	exon3			GTTCCTCGACCCC		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.370G>T	11.37:g.6245247C>A	ENSP00000416918:p.Glu124*	101	0		73	36	NM_032127	0	0	0	0	0	Q9C0A4|Q9H0N3|Q9H624	Nonsense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	38	6.886814	0.97912	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	.	.	.	5.05	5.05	0.67936	.	0.204980	0.42548	D	0.000698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-26.1163	12.9408	0.58342	0.0:0.837:0.163:0.0	.	.	.	.	X	124;49;124;124	.	ENSP00000265978:E124X	E	-	1	0	FAM160A2	6201823	0.999000	0.42202	0.994000	0.49952	0.997000	0.91878	3.229000	0.51278	2.642000	0.89623	0.655000	0.94253	GAG	.		0.592	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127	
DCHS1	8642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	6661671	6661671	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:6661671C>A	ENST00000299441.3	-	2	1585	c.1174G>T	c.(1174-1176)Gac>Tac	p.D392Y		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATCTGGGTCTGACACAGAG	0.567																																					p.D392Y		.											.	DCHS1-73	0			c.G1174T						.						57.0	55.0	56.0					11																	6661671		2201	4296	6497	SO:0001583	missense	8642	exon2			CTGGGTCTGACAC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1174G>T	11.37:g.6661671C>A	ENSP00000299441:p.Asp392Tyr	134	0		69	33	NM_003737	0	0	0	0	0	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044279	0.75732	.	.	ENSG00000166341	ENST00000299441	T	0.34667	1.35	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000220	T	0.78780	0.4337	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88192	0.2878	10	0.87932	D	0	.	18.7519	0.91819	0.0:1.0:0.0:0.0	.	392	Q96JQ0	PCD16_HUMAN	Y	392	ENSP00000299441:D392Y	ENSP00000299441:D392Y	D	-	1	0	DCHS1	6618247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.661000	0.90470	0.637000	0.83480	GAC	.		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
OR2D2	120776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	6913108	6913108	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:6913108G>T	ENST00000299459.2	-	1	722	c.624C>A	c.(622-624)ctC>ctA	p.L208L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	208					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)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAACAGGTATGAGGAGAATCA	0.448																																					p.L208L		.											.	OR2D2-501	0			c.C624A						.						86.0	82.0	84.0					11																	6913108		2201	4296	6497	SO:0001819	synonymous_variant	120776	exon1			AGGTATGAGGAGA	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.624C>A	11.37:g.6913108G>T		92	0		68	37	NM_003700	0	0	0	0	0	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	CCDS31416.1																																																																																			.		0.448	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700	
OR2D3	120775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	6942958	6942958	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:6942958C>A	ENST00000317834.3	+	1	754	c.726C>A	c.(724-726)atC>atA	p.I242I		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCACTGTTATCCAGATGCAGT	0.468																																					p.I242I		.											.	OR2D3-68	0			c.C726A						.						113.0	101.0	105.0					11																	6942958		2201	4296	6497	SO:0001819	synonymous_variant	120775	exon1			TGTTATCCAGATG	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.726C>A	11.37:g.6942958C>A		213	0		146	75	NM_001004684	0	0	0	0	0	B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	CCDS31417.1																																																																																			.		0.468	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684	
OR5P2	120065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	7817640	7817640	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:7817640G>T	ENST00000329434.2	-	1	880	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	284						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)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGTAGATCAGGGGGTTCAAC	0.418																																					p.L284M		.											.	OR5P2-496	0			c.C850A						.						97.0	112.0	107.0					11																	7817640		2104	4292	6396	SO:0001583	missense	120065	exon1			AGATCAGGGGGTT	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.850C>A	11.37:g.7817640G>T	ENSP00000331823:p.Leu284Met	224	0		206	119	NM_153444	0	0	0	0	0	Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874158	0.51695	.	.	ENSG00000183303	ENST00000329434	T	0.45668	0.89	5.46	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.376551	0.22866	N	0.054695	T	0.37919	0.1021	L	0.28649	0.875	0.31167	N	0.703637	P	0.40875	0.731	P	0.48770	0.589	T	0.43180	-0.9407	10	0.62326	D	0.03	-58.1259	8.2007	0.31424	0.0764:0.0:0.6242:0.2994	.	284	Q8WZ92	OR5P2_HUMAN	M	284	ENSP00000331823:L284M	ENSP00000331823:L284M	L	-	1	2	OR5P2	7774216	0.000000	0.05858	1.000000	0.80357	0.869000	0.49853	-0.338000	0.07842	0.798000	0.33994	0.549000	0.68633	CTG	.		0.418	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444	
SBF2	81846	bcgsc.ca	37	11	10019853	10019853	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:10019853G>T	ENST00000256190.8	-	9	1072	c.935C>A	c.(934-936)cCa>cAa	p.P312Q	SBF2_ENST00000527019.1_Intron	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	312					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAGTGGTTCTGGGAGGGAAGA	0.333																																					p.P312Q		.											.	SBF2-93	0			c.C935A						.						107.0	111.0	110.0					11																	10019853		2201	4294	6495	SO:0001583	missense	81846	exon9			GGTTCTGGGAGGG	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.935C>A	11.37:g.10019853G>T	ENSP00000256190:p.Pro312Gln	72	0		53	4	NM_030962	0	0	0	0	0	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858764	0.91433	.	.	ENSG00000133812	ENST00000256190	D	0.92495	-3.05	5.26	5.26	0.73747	.	0.123114	0.56097	D	0.000028	D	0.96078	0.8722	M	0.81942	2.565	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.95890	0.8906	9	.	.	.	.	18.8668	0.92294	0.0:0.0:1.0:0.0	.	312	Q86WG5	MTMRD_HUMAN	Q	312	ENSP00000256190:P312Q	.	P	-	2	0	SBF2	9976429	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.452000	0.82932	0.585000	0.79938	CCA	.		0.333	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	
ADM	133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	10328160	10328160	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:10328160C>A	ENST00000528655.1	+	3	1147	c.530C>A	c.(529-531)cCg>cAg	p.P177Q	ADM_ENST00000278175.5_Missense_Mutation_p.P177Q|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000534464.1_Missense_Mutation_p.P130Q|ADM_ENST00000525063.1_Missense_Mutation_p.P177Q|ADM_ENST00000530439.1_Missense_Mutation_p.P109Q			P35318	ADML_HUMAN	adrenomedullin	177					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		CCAGCCCCCCCGAGTGGAAGT	0.667																																					p.P177Q		.											.	ADM-514	0			c.C530A						.						17.0	21.0	19.0					11																	10328160		2152	4196	6348	SO:0001583	missense	133	exon4			CCCCCCCGAGTGG	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.530C>A	11.37:g.10328160C>A	ENSP00000436607:p.Pro177Gln	96	0		118	70	NM_001124	0	0	0	0	0	B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848613	0.32699	.	.	ENSG00000148926	ENST00000278175;ENST00000534464;ENST00000530439;ENST00000528655;ENST00000525063	T;T;T;T;T	0.47528	1.48;1.45;0.84;1.48;1.48	5.43	-3.79	0.04320	.	4.063620	0.00931	N	0.002702	T	0.24890	0.0604	N	0.08118	0	0.18873	N	0.999987	D	0.60160	0.987	B	0.42995	0.404	T	0.16217	-1.0410	10	0.20046	T	0.44	8.8112	5.0837	0.14671	0.3172:0.2837:0.3359:0.0633	.	177	P35318	ADML_HUMAN	Q	177;130;109;177;177	ENSP00000278175:P177Q;ENSP00000431438:P130Q;ENSP00000436837:P109Q;ENSP00000436607:P177Q;ENSP00000435124:P177Q	ENSP00000278175:P177Q	P	+	2	0	ADM	10284736	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.945000	0.03909	-0.486000	0.06744	-0.311000	0.09066	CCG	.		0.667	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124	
SPON1	10418	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	14063180	14063180	+	RNA	SNP	G	G	A	rs543468968		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:14063180G>A	ENST00000310358.7	+	0	996							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCACCAGCGGGAACAGGCTGC	0.458																																					.		.											.	SPON1-1	0			.						.						89.0	90.0	90.0					11																	14063180		1913	4139	6052			10418	.			CAGCGGGAACAGG	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14063180G>A		99	1		57	30	.	0	0	0	0	0	A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37		.	.	.	.	.	.	.	.	.	.	G	26.0	4.696594	0.88830	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.01	5.01	0.66863	Reeler domain (2);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	L	0.46885	1.475	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.75578	-0.3269	8	0.87932	D	0	.	16.1804	0.81895	0.0:0.0:1.0:0.0	.	153	Q9HCB6	SPON1_HUMAN	E	153	.	ENSP00000309297:G153E	G	+	2	0	SPON1	14019756	1.000000	0.71417	0.965000	0.40720	0.980000	0.70556	9.024000	0.93689	2.476000	0.83614	0.655000	0.94253	GGA	.		0.458	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584	
INSC	387755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	15197588	15197588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:15197588G>T	ENST00000379554.3	+	3	545	c.499G>T	c.(499-501)Gag>Tag	p.E167*	INSC_ENST00000424273.1_Nonsense_Mutation_p.E120*|INSC_ENST00000379556.3_Nonsense_Mutation_p.E120*|INSC_ENST00000530161.1_Nonsense_Mutation_p.E120*|INSC_ENST00000528567.1_Nonsense_Mutation_p.E120*|INSC_ENST00000525218.1_Nonsense_Mutation_p.E120*	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	167					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CATGGTCAGCGAGTACAGTGC	0.622																																					p.E167X		.											.	INSC-94	0			c.G499T						.						16.0	17.0	17.0					11																	15197588		2056	4206	6262	SO:0001587	stop_gained	387755	exon3			GTCAGCGAGTACA	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.499G>T	11.37:g.15197588G>T	ENSP00000368872:p.Glu167*	187	0		146	59	NM_001031853	0	0	0	0	0	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Nonsense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	37	6.554867	0.97658	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	.	.	.	5.08	4.16	0.48862	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-22.3182	12.9226	0.58241	0.0783:0.0:0.9217:0.0	.	.	.	.	X	167;120;120;120;120;120;120	.	ENSP00000368872:E167X	E	+	1	0	INSC	15154164	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.601000	0.82783	2.360000	0.80028	0.462000	0.41574	GAG	.		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	
SOX6	55553	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	11	16256218	16256218	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:16256218C>A	ENST00000352083.6	-	4	523		c.e4-1		SOX6_ENST00000528252.1_Splice_Site|SOX6_ENST00000528429.1_Splice_Site|SOX6_ENST00000316399.6_Splice_Site|SOX6_ENST00000527619.1_Splice_Site|SOX6_ENST00000396356.3_Splice_Site			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6						astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|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)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CAGGAGGAATCTATTAAAATA	0.269																																					.		.											.	SOX6-93	0			c.446-1G>T						.						54.0	49.0	51.0					11																	16256218		2194	4280	6474	SO:0001630	splice_region_variant	55553	exon5			AGGAATCTATTAA	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.446-1G>T	11.37:g.16256218C>A		12	0		11	6	NM_001145811	0	0	0	0	0	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Splice_Site	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	C	17.45	3.391446	0.62066	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429;ENST00000533411	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6372	0.45571	0.0:0.876:0.0:0.124	.	.	.	.	.	-1	.	.	.	-	.	.	SOX6	16212794	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	7.331000	0.79192	2.539000	0.85634	0.655000	0.94253	.	.		0.269	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	Intron
USH1C	10083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	17552712	17552712	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:17552712C>A	ENST00000318024.4	-	4	484	c.376G>T	c.(376-378)Gtc>Ttc	p.V126F	USH1C_ENST00000005226.7_Missense_Mutation_p.V126F|USH1C_ENST00000527720.1_Missense_Mutation_p.V95F|USH1C_ENST00000527020.1_Missense_Mutation_p.V126F	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	126	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.V126I(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGGAGCCCGACGCTGTCTGCC	0.642																																					p.V126F		.											.	USH1C-91	1	Substitution - Missense(1)	prostate(1)	c.G376T						.						37.0	40.0	39.0					11																	17552712		2200	4293	6493	SO:0001583	missense	10083	exon4			GCCCGACGCTGTC	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.376G>T	11.37:g.17552712C>A	ENSP00000317018:p.Val126Phe	199	0		128	73	NM_005709	0	0	0	0	0	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153311	0.78114	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.39	4.48	0.54585	PDZ/DHR/GLGF (4);	0.055949	0.64402	D	0.000001	T	0.36441	0.0967	L	0.35414	1.06	0.54753	D	0.999983	D;D;D	0.89917	0.996;0.993;1.0	D;D;D	0.76575	0.915;0.915;0.988	T	0.12142	-1.0559	10	0.59425	D	0.04	.	9.4929	0.38971	0.0:0.8357:0.0:0.1643	.	126;126;126	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	F	126;95;126;126;137	ENSP00000317018:V126F;ENSP00000432944:V95F;ENSP00000436934:V126F;ENSP00000005226:V126F;ENSP00000437128:V137F	ENSP00000005226:V126F	V	-	1	0	USH1C	17509288	0.992000	0.36948	0.916000	0.36221	0.979000	0.70002	3.176000	0.50863	1.413000	0.46997	0.561000	0.74099	GTC	.		0.642	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	
NELL1	4745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	21596527	21596527	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:21596527G>T	ENST00000357134.5	+	20	2544	c.2392G>T	c.(2392-2394)Gtc>Ttc	p.V798F	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000298925.5_Missense_Mutation_p.V826F|NELL1_ENST00000325319.5_Missense_Mutation_p.V741F|NELL1_ENST00000532434.1_Missense_Mutation_p.V751F	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	798					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAATGGAAGAGTCTGTTGTTC	0.353																																					p.V798F		.											.	NELL1-155	0			c.G2392T						.						189.0	170.0	177.0					11																	21596527		2203	4300	6503	SO:0001583	missense	4745	exon20			GGAAGAGTCTGTT	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2392G>T	11.37:g.21596527G>T	ENSP00000349654:p.Val798Phe	105	0		58	26	NM_006157	0	0	0	0	0	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965455	0.74131	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;T;T	0.82433	-1.61;-1.58;-1.49;-1.47	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.89959	0.6866	M	0.64997	1.995	0.52099	D	0.999945	D;D;D;D;D	0.65815	0.992;0.986;0.995;0.995;0.986	P;P;P;D;P	0.69654	0.907;0.809;0.873;0.965;0.809	D	0.86228	0.1635	10	0.30078	T	0.28	-19.9688	20.8794	0.99867	0.0:0.0:1.0:0.0	.	741;826;343;751;798	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	F	826;798;741;751	ENSP00000298925:V826F;ENSP00000349654:V798F;ENSP00000317837:V741F;ENSP00000437170:V751F	ENSP00000298925:V826F	V	+	1	0	NELL1	21553103	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.590000	0.53979	2.941000	0.99782	0.655000	0.94253	GTC	.		0.353	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
SLC17A6	57084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	22363120	22363120	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:22363120G>C	ENST00000263160.3	+	2	570	c.133G>C	c.(133-135)Gag>Cag	p.E45Q		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	45					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CGAGCTGACGGAGGATGGGAA	0.647																																					p.E45Q		.											.	SLC17A6-580	0			c.G133C						.						62.0	67.0	65.0					11																	22363120		2203	4300	6503	SO:0001583	missense	57084	exon2			CTGACGGAGGATG	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.133G>C	11.37:g.22363120G>C	ENSP00000263160:p.Glu45Gln	102	0		57	33	NM_020346	0	0	0	0	0	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227156	0.79576	.	.	ENSG00000091664	ENST00000263160	T	0.62364	0.03	5.79	5.79	0.91817	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	L	0.52759	1.655	0.80722	D	1	B	0.23442	0.085	B	0.25140	0.058	T	0.56135	-0.8029	10	0.42905	T	0.14	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	45	Q9P2U8	VGLU2_HUMAN	Q	45	ENSP00000263160:E45Q	ENSP00000263160:E45Q	E	+	1	0	SLC17A6	22319696	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.869000	0.99810	2.744000	0.94065	0.650000	0.86243	GAG	.		0.647	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	
SLC17A6	57084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	22399006	22399006	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:22399006G>T	ENST00000263160.3	+	12	1906	c.1469G>T	c.(1468-1470)gGa>gTa	p.G490V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	490					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CACTATGGTGGAGTTATATTT	0.448																																					p.G490V		.											.	SLC17A6-580	0			c.G1469T						.						77.0	77.0	77.0					11																	22399006		2203	4300	6503	SO:0001583	missense	57084	exon12			ATGGTGGAGTTAT	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1469G>T	11.37:g.22399006G>T	ENSP00000263160:p.Gly490Val	149	0		88	51	NM_020346	0	0	0	0	0	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860997	0.71949	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.61158	0.13	5.98	5.98	0.97165	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.097108	0.64402	D	0.000001	D	0.83119	0.5185	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85953	0.1465	10	0.87932	D	0	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	490	Q9P2U8	VGLU2_HUMAN	V	490;378	ENSP00000263160:G490V	ENSP00000263160:G490V	G	+	2	0	SLC17A6	22355582	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.869000	0.99810	2.838000	0.97847	0.655000	0.94253	GGA	.		0.448	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	
KCNA4	3739	hgsc.bcm.edu	37	11	30034154	30034154	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:30034154C>A	ENST00000328224.6	-	2	1305	c.72G>T	c.(70-72)caG>caT	p.Q24H	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	24					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GGGCCCGGGCCTGGGCAGCAT	0.622																																					p.Q24H		.											.	KCNA4-517	0			c.G72T						.						67.0	68.0	67.0					11																	30034154		1929	4128	6057	SO:0001583	missense	3739	exon2			CCGGGCCTGGGCA	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.72G>T	11.37:g.30034154C>A	ENSP00000328511:p.Gln24His	15	0		19	6	NM_002233	0	0	0	0	0		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202191	0.38905	.	.	ENSG00000182255	ENST00000328224	D	0.97620	-4.46	4.97	3.07	0.35406	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	341.984000	0.00166	N	0.000011	D	0.96537	0.8870	N	0.24115	0.695	0.45580	D	0.998524	D	0.65815	0.995	D	0.65684	0.937	D	0.90219	0.4270	10	0.66056	D	0.02	.	4.2006	0.10464	0.1783:0.5695:0.0:0.2522	.	24	P22459	KCNA4_HUMAN	H	24	ENSP00000328511:Q24H	ENSP00000328511:Q24H	Q	-	3	2	KCNA4	29990730	0.976000	0.34144	1.000000	0.80357	0.631000	0.37964	0.168000	0.16622	1.075000	0.40932	-0.181000	0.13052	CAG	.		0.622	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
DCDC1	341019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	30915876	30915876	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:30915876C>A	ENST00000597505.1	-	33	4811	c.4812G>T	c.(4810-4812)gtG>gtT	p.V1604V	DCDC1_ENST00000406071.2_Silent_p.V342V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCACGGGCTGCACAGGGCTCT	0.483																																					p.V711V		.											.	DCDC5-23	0			c.G2133T						.						71.0	73.0	72.0					11																	30915876		1926	4136	6062	SO:0001819	synonymous_variant	100506627	exon16			GGGCTGCACAGGG	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4812G>T	11.37:g.30915876C>A		85	0		56	26	NM_020869	0	0	0	0	0	A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000597505.1	37																																																																																				.		0.483	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
WT1	7490	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	32414240	32414240	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:32414240C>A	ENST00000379079.2	-	8	948	c.675G>T	c.(673-675)caG>caT	p.Q225H	WT1_ENST00000332351.3_Missense_Mutation_p.Q437H|WT1_ENST00000448076.3_Missense_Mutation_p.Q437H|WT1_ENST00000530998.1_Missense_Mutation_p.Q208H	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	369					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTCTTTTGAGCTGGTCTGAAC	0.438			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																												p.Q437H		.	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	.	WT1-6891	0			c.G1311T	GRCh37	CM065521	WT1	M		.						191.0	159.0	170.0					11																	32414240		2202	4299	6501	SO:0001583	missense	7490	exon8	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	TTTGAGCTGGTCT		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.675G>T	11.37:g.32414240C>A	ENSP00000368370:p.Gln225His	185	0		142	80	NM_024424	0	0	0	0	0	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004486	0.74932	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.73	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000004	T	0.27866	0.0686	N	0.00808	-1.17	0.58432	D	0.999997	D;D;D;D;D	0.71674	0.998;0.995;0.997;0.998;0.997	D;D;D;D;D	0.77557	0.98;0.99;0.985;0.979;0.983	T	0.33007	-0.9885	10	0.37606	T	0.19	.	6.9979	0.24793	0.0:0.6674:0.0:0.3326	.	425;369;442;208;225	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	H	225;437;208;420;437	ENSP00000368370:Q225H;ENSP00000331327:Q437H;ENSP00000435307:Q208H;ENSP00000415516:Q420H;ENSP00000413452:Q437H	ENSP00000331327:Q437H	Q	-	3	2	WT1	32370816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.115000	0.41921	1.572000	0.49736	0.555000	0.69702	CAG	.		0.438	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	
CCDC73	493860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	32635948	32635948	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:32635948G>T	ENST00000335185.5	-	16	1959	c.1916C>A	c.(1915-1917)cCt>cAt	p.P639H	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	639										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACATGGAACAGGATTTTTTTT	0.313																																					p.I639K		.											.	CCDC73-91	0			c.T1916A						.						63.0	57.0	59.0					11																	32635948		1803	4078	5881	SO:0001583	missense	493860	exon16			GGAACAGGATTTT	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1916C>A	11.37:g.32635948G>T	ENSP00000335325:p.Pro639His	52	0		38	21	NM_001008391	0	0	0	0	0	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.434823	0.01108	.	.	ENSG00000186714	ENST00000335185	.	.	.	4.76	0.142	0.14816	.	1.323950	0.05061	N	0.479834	T	0.14570	0.0352	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18999	-1.0319	9	0.15066	T	0.55	.	3.2741	0.06892	0.2435:0.1155:0.5236:0.1174	.	639	Q6ZRK6	CCD73_HUMAN	H	639	.	ENSP00000335325:P639H	P	-	2	0	CCDC73	32592524	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.412000	0.21131	-0.099000	0.12263	-1.579000	0.00862	CCT	.		0.313	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
QSER1	79832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	32956724	32956724	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:32956724G>T	ENST00000399302.2	+	4	3868	c.3533G>T	c.(3532-3534)cGg>cTg	p.R1178L	QSER1_ENST00000527788.1_Missense_Mutation_p.R939L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1178										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGGACTAGACGGCCAGGGACC	0.478																																					p.R1178L		.											.	QSER1-95	0			c.G3533T						.						100.0	101.0	101.0					11																	32956724		1904	4108	6012	SO:0001583	missense	79832	exon4			CTAGACGGCCAGG	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3533G>T	11.37:g.32956724G>T	ENSP00000382241:p.Arg1178Leu	131	0		68	35	NM_001076786	0	0	0	0	0	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.55|18.55	3.648071|3.648071	0.67358|0.67358	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.24151	.|2.2;1.87	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.56097	.|D	.|0.000027	T|T	0.53658|0.53658	0.1810|0.1810	M|M	0.73598|0.73598	2.24|2.24	0.46901|0.46901	D|D	0.999245|0.999245	.|D;P;D	.|0.89917	.|1.0;0.928;0.999	.|D;P;D	.|0.87578	.|0.998;0.524;0.931	T|T	0.54241|0.54241	-0.8323|-0.8323	5|10	.|0.51188	.|T	.|0.08	.|.	18.9689|18.9689	0.92707|0.92707	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|939;939;1178	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	C|L	199|1178;939;939	.|ENSP00000382241:R1178L;ENSP00000432766:R939L	.|ENSP00000078652:R939L	G|R	+|+	1|2	0|0	QSER1|QSER1	32913300|32913300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	5.193000|5.193000	0.65120|0.65120	2.494000|2.494000	0.84150|0.84150	0.467000|0.467000	0.42956|0.42956	GGC|CGG	.		0.478	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
KIAA1549L	25758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	33564462	33564462	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:33564462A>T	ENST00000321505.4	+	1	642	c.462A>T	c.(460-462)tcA>tcT	p.S154S	KIAA1549L_ENST00000265654.5_Silent_p.S154S|KIAA1549L_ENST00000389726.3_Silent_p.S154S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	154						integral component of membrane (GO:0016021)											TGCATTTGTCAGCAGCTCCAG	0.532											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S154S		.											.	.	0			c.A462T						.						82.0	80.0	81.0					11																	33564462		1898	4111	6009	SO:0001819	synonymous_variant	25758	exon1			TTTGTCAGCAGCT	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.462A>T	11.37:g.33564462A>T		94	0	841	65	33	NM_012194	0	0	0	0	0	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2																																																																																			.		0.532	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
PAMR1	25891	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	35453941	35453941	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:35453941A>C	ENST00000378880.2	-	11	2571	c.2126T>G	c.(2125-2127)cTg>cGg	p.L709R	PAMR1_ENST00000278360.3_Missense_Mutation_p.L726R|PAMR1_ENST00000378878.3_Missense_Mutation_p.L598R|PAMR1_ENST00000532848.1_Missense_Mutation_p.L669R	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	709	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTTAAAAGGCAGCACCTTGGT	0.483																																					p.L726R		.											.	PAMR1-70	0			c.T2177G						.						111.0	104.0	106.0					11																	35453941		2202	4298	6500	SO:0001583	missense	25891	exon12			AAAGGCAGCACCT		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.2126T>G	11.37:g.35453941A>C	ENSP00000368158:p.Leu709Arg	63	1		45	21	NM_015430	0	0	0	0	0	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001327	0.54254	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.4	5.4	0.78164	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.311160	0.30630	N	0.009212	D	0.91720	0.7382	N	0.19112	0.55	0.40834	D	0.983614	D;P;P	0.61080	0.989;0.773;0.731	P;P;B	0.53450	0.726;0.58;0.347	D	0.93570	0.6903	10	0.87932	D	0	.	15.7223	0.77721	1.0:0.0:0.0:0.0	.	598;709;726	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	R	726;709;598;669	ENSP00000278360:L726R;ENSP00000368158:L709R;ENSP00000368156:L598R;ENSP00000433868:L669R	ENSP00000278360:L726R	L	-	2	0	PAMR1	35410517	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.033000	0.64146	2.170000	0.68504	0.454000	0.30748	CTG	.		0.483	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	
PAMR1	25891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	35457622	35457622	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:35457622G>T	ENST00000378880.2	-	9	1607	c.1162C>A	c.(1162-1164)Cct>Act	p.P388T	PAMR1_ENST00000278360.3_Missense_Mutation_p.P405T|PAMR1_ENST00000378878.3_Missense_Mutation_p.P277T|PAMR1_ENST00000532848.1_Missense_Mutation_p.P348T	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	388	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTCTTGGTAGGGGCACTCTGC	0.557																																					p.P405T		.											.	PAMR1-70	0			c.C1213A						.						212.0	196.0	201.0					11																	35457622		2202	4298	6500	SO:0001583	missense	25891	exon10			TGGTAGGGGCACT		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1162C>A	11.37:g.35457622G>T	ENSP00000368158:p.Pro388Thr	308	0		255	142	NM_015430	0	0	0	0	0	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	8.780	0.928105	0.18131	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.89415	-2.39;-2.39;-2.51;-2.4;-2.33	5.54	2.58	0.30949	Sushi/SCR/CCP (1);	0.100972	0.64402	D	0.000001	T	0.80899	0.4712	N	0.19112	0.55	0.45150	D	0.998167	P;B;B	0.39352	0.669;0.193;0.29	B;B;B	0.41374	0.355;0.119;0.154	T	0.77222	-0.2667	10	0.87932	D	0	.	8.2575	0.31765	0.1437:0.1292:0.7271:0.0	.	277;388;405	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	T	405;388;277;348;365	ENSP00000278360:P405T;ENSP00000368158:P388T;ENSP00000368156:P277T;ENSP00000433868:P348T;ENSP00000432591:P365T	ENSP00000278360:P405T	P	-	1	0	PAMR1	35414198	1.000000	0.71417	0.928000	0.36995	0.968000	0.65278	6.177000	0.71961	0.269000	0.21961	0.561000	0.74099	CCT	.		0.557	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	
RAG1	5896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	36596616	36596616	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:36596616G>T	ENST00000299440.5	+	2	1874	c.1762G>T	c.(1762-1764)Gat>Tat	p.D588Y		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	588					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGACCTTGATGATTACCTGAA	0.488									Familial Hemophagocytic Lymphohistiocytosis																												p.D588Y	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	.											.	RAG1-230	0			c.G1762T						.						116.0	97.0	103.0					11																	36596616		2202	4298	6500	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	CTTGATGATTACC	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1762G>T	11.37:g.36596616G>T	ENSP00000299440:p.Asp588Tyr	198	1		136	75	NM_000448	0	0	0	0	0	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746587	0.30955	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87491	-2.26;-2.26	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96454	0.9336	10	0.87932	D	0	.	15.1294	0.72511	0.0676:0.0:0.9324:0.0	.	588	P15918	RAG1_HUMAN	Y	588	ENSP00000434610:D588Y;ENSP00000299440:D588Y	ENSP00000299440:D588Y	D	+	1	0	RAG1	36553192	1.000000	0.71417	0.034000	0.17996	0.120000	0.20174	9.476000	0.97823	1.526000	0.49068	0.644000	0.83932	GAT	.		0.488	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
LRRC4C	57689	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	40137767	40137767	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:40137767G>T	ENST00000278198.2	-	2	2039	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	LRRC4C_ENST00000527150.1_Missense_Mutation_p.L26M|LRRC4C_ENST00000530763.1_Missense_Mutation_p.L26M|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L26M			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	26					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACCACAAGCAGGGGGTCAAAT	0.502																																					p.L26M		.											.	LRRC4C-521	0			c.C76A						.						76.0	75.0	75.0					11																	40137767		2203	4300	6503	SO:0001583	missense	57689	exon7			CAAGCAGGGGGTC	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.76C>A	11.37:g.40137767G>T	ENSP00000278198:p.Leu26Met	171	1		136	69	NM_001258419	0	0	0	0	0	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729281	0.69074	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763;ENST00000533474	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.76	5.76	0.90799	.	0.077291	0.52532	D	0.000070	T	0.53334	0.1790	L	0.29908	0.895	0.49130	D	0.999755	P	0.42757	0.789	B	0.43018	0.405	T	0.55730	-0.8095	10	0.54805	T	0.06	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	26	Q9HCJ2	LRC4C_HUMAN	M	26	ENSP00000278198:L26M;ENSP00000436976:L26M;ENSP00000437132:L26M;ENSP00000434761:L26M	ENSP00000278198:L26M	L	-	1	2	LRRC4C	40094343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.197000	0.72100	2.719000	0.93026	0.650000	0.86243	CTG	.		0.502	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
LRP4	4038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	46880716	46880716	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:46880716C>A	ENST00000378623.1	-	38	5778	c.5536G>T	c.(5536-5538)Gac>Tac	p.D1846Y	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1846					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GACACCGTGTCTGTCTTCATG	0.577																																					p.D1846Y		.											.	LRP4-94	0			c.G5536T						.						94.0	81.0	86.0					11																	46880716		2201	4299	6500	SO:0001583	missense	4038	exon38			CCGTGTCTGTCTT	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5536G>T	11.37:g.46880716C>A	ENSP00000367888:p.Asp1846Tyr	107	0		87	27	NM_002334	0	0	0	0	0	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085919	0.94100	.	.	ENSG00000134569	ENST00000378623	D	0.91464	-2.85	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	N	0.24115	0.695	0.80722	D	1	D	0.58970	0.984	P	0.57371	0.819	D	0.91912	0.5540	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1846	O75096	LRP4_HUMAN	Y	1846	ENSP00000367888:D1846Y	ENSP00000367888:D1846Y	D	-	1	0	LRP4	46837292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.461000	0.80834	2.882000	0.98803	0.655000	0.94253	GAC	.		0.577	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
OR4S1	256148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	48328090	48328090	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:48328090G>C	ENST00000319988.1	+	1	316	c.316G>C	c.(316-318)Ggt>Cgt	p.G106R		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CCACTTCTTTGGTGGCACTGA	0.507																																					p.G106R		.											.	OR4S1-69	0			c.G316C						.						119.0	104.0	109.0					11																	48328090		2201	4288	6489	SO:0001583	missense	256148	exon1			TTCTTTGGTGGCA	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.316G>C	11.37:g.48328090G>C	ENSP00000321447:p.Gly106Arg	116	0		84	52	NM_001004725	0	0	0	0	0	Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819066	0.50633	.	.	ENSG00000176555	ENST00000319988	T	0.00301	8.21	5.02	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	H	0.96889	3.9	0.27647	N	0.947517	D	0.89917	1.0	D	0.80764	0.994	T	0.09707	-1.0662	9	0.72032	D	0.01	.	12.7967	0.57564	0.0:0.0:0.8347:0.1653	.	106	Q8NGB4	OR4S1_HUMAN	R	106	ENSP00000321447:G106R	ENSP00000321447:G106R	G	+	1	0	OR4S1	48284666	0.413000	0.25400	0.872000	0.34217	0.351000	0.29236	2.471000	0.45127	1.229000	0.43630	-0.181000	0.13052	GGT	.		0.507	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725	
FOLH1	2346	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	49195014	49195014	+	Silent	SNP	G	G	A	rs539478487		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:49195014G>A	ENST00000256999.2	-	10	1380	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000533034.1_Silent_p.L359L|FOLH1_ENST00000343844.4_Silent_p.L66L|FOLH1_ENST00000356696.3_Silent_p.L374L|FOLH1_ENST00000340334.7_Silent_p.L359L	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	374	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGACCTCCCAGAATGACATAT	0.388																																					p.L374L		.											.	FOLH1-579	0			c.C1120T						.						132.0	123.0	126.0					11																	49195014		2201	4295	6496	SO:0001819	synonymous_variant	2346	exon10			CTCCCAGAATGAC	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1120C>T	11.37:g.49195014G>A		117	0		80	38	NM_004476	0	0	0	0	0	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																			.		0.388	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	
OR4C46	119749	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	51515827	51515827	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:51515827G>T	ENST00000328188.1	+	1	546	c.546G>T	c.(544-546)ttG>ttT	p.L182F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGAACCCTTTGCTCAACCTCG	0.458																																					p.L182F		.											.	OR4C46-69	0			c.G546T						.						115.0	105.0	108.0					11																	51515827		2201	4296	6497	SO:0001583	missense	119749	exon1			CCCTTTGCTCAAC		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.546G>T	11.37:g.51515827G>T	ENSP00000329056:p.Leu182Phe	124	0		103	54	NM_001004703	0	0	0	0	0		Missense_Mutation	SNP	ENST00000328188.1	37	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	6.971	0.549121	0.13312	.	.	ENSG00000185926	ENST00000328188	T	0.00231	8.49	2.47	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36932	N	0.002336	T	0.00356	0.0011	M	0.86420	2.815	0.09310	N	1	P	0.46395	0.877	P	0.51079	0.658	T	0.39014	-0.9634	10	0.72032	D	0.01	.	4.8217	0.13394	0.0:0.2429:0.5092:0.2479	.	182	A6NHA9	O4C46_HUMAN	F	182	ENSP00000329056:L182F	ENSP00000329056:L182F	L	+	3	2	OR4C46	51372403	0.012000	0.17670	0.027000	0.17364	0.023000	0.10783	0.062000	0.14389	0.364000	0.24374	0.121000	0.15741	TTG	.		0.458	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703	
OR4C46	119749	ucsc.edu;bcgsc.ca	37	11	51515989	51515989	+	Silent	SNP	C	C	T	rs141793341	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:51515989C>T	ENST00000328188.1	+	1	708	c.708C>T	c.(706-708)tcC>tcT	p.S236S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AAGCCCTCTCCACCTGTGTCT	0.473													.|||	55	0.0109824	0.0386	0.0058	5008	,	,		20016	0.0		0.0	False		,,,				2504	0.0				p.S236S		.											.	OR4C46-69	0			c.C708T						.	C		112,4290		3,106,2092	129.0	109.0	115.0		708	-1.4	0.7	11	dbSNP_134	115	2,8590		0,2,4294	no	coding-synonymous	OR4C46	NM_001004703.1		3,108,6386	TT,TC,CC		0.0233,2.5443,0.8773		236/310	51515989	114,12880	2201	4296	6497	SO:0001819	synonymous_variant	119749	exon1			CCTCTCCACCTGT		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.708C>T	11.37:g.51515989C>T		143	0		114	33	NM_001004703	0	0	0	0	0		Silent	SNP	ENST00000328188.1	37	CCDS31498.1																																																																																			C|0.991;T|0.009		0.473	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703	
OR4C15	81309	bcgsc.ca	37	11	55322211	55322211	+	Silent	SNP	A	A	G	rs9804659	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55322211A>G	ENST00000314644.2	+	1	429	c.429A>G	c.(427-429)aaA>aaG	p.K143K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	89						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)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATGTGACAAAAACCATCTCTT	0.478										HNSCC(20;0.049)			a|||	1265	0.252596	0.1014	0.3242	5008	,	,		19759	0.3919		0.2833	False		,,,				2504	0.2311				p.K143K		.											.	OR4C15-70	0			c.A429G						.	A		561,3841	252.1+/-258.6	27,507,1667	159.0	140.0	146.0		429	2.8	1.0	11	dbSNP_119	146	2288,6304	385.5+/-341.5	329,1630,2337	no	coding-synonymous	OR4C15	NM_001001920.1		356,2137,4004	GG,GA,AA		26.6294,12.7442,21.9255		143/371	55322211	2849,10145	2201	4296	6497	SO:0001819	synonymous_variant	81309	exon1			GACAAAAACCATC	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.429A>G	11.37:g.55322211A>G		60	0		44	4	NM_001001920	0	0	0	0	0	Q6IFE2	Silent	SNP	ENST00000314644.2	37	CCDS31501.1																																																																																			A|0.760;G|0.240		0.478	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920	
OR4C11	219429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	55371701	55371701	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55371701C>T	ENST00000302231.4	-	1	173	c.149G>A	c.(148-150)aGc>aAc	p.S50N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TAGTGTCCGGCTGGACTTGAT	0.408																																					p.S50N		.											.	OR4C11-69	0			c.G149A						.						77.0	73.0	75.0					11																	55371701		2179	4006	6185	SO:0001583	missense	219429	exon1			GTCCGGCTGGACT	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.149G>A	11.37:g.55371701C>T	ENSP00000306651:p.Ser50Asn	59	0		34	23	NM_001004700	0	0	0	0	0	B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148657	0.21288	.	.	ENSG00000172188	ENST00000302231	T	0.01068	5.38	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000019	T	0.02012	0.0063	L	0.55103	1.725	0.26428	N	0.975987	B	0.14438	0.01	B	0.17098	0.017	T	0.30119	-0.9989	10	0.72032	D	0.01	.	14.7292	0.69368	0.0:1.0:0.0:0.0	.	50	Q6IEV9	OR4CB_HUMAN	N	50	ENSP00000306651:S50N	ENSP00000306651:S50N	S	-	2	0	OR4C11	55128277	0.000000	0.05858	0.077000	0.20336	0.004000	0.04260	-0.907000	0.04067	2.425000	0.82216	0.478000	0.44815	AGC	.		0.408	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700	
OR4C6	219432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	55432829	55432829	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55432829T>A	ENST00000314259.3	+	1	216	c.187T>A	c.(187-189)Ttc>Atc	p.F63I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTTTCTTACCTTCTTGTCCCT	0.433																																					p.F63I		.											.	OR4C6-70	0			c.T187A						.						296.0	258.0	271.0					11																	55432829		2200	4296	6496	SO:0001583	missense	219432	exon1			CTTACCTTCTTGT	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.187T>A	11.37:g.55432829T>A	ENSP00000324769:p.Phe63Ile	141	0		113	70	NM_001004704	0	0	0	0	0	B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.787123	0.31593	.	.	ENSG00000181903	ENST00000314259	T	0.02974	4.09	3.83	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.606749	0.13668	N	0.371094	T	0.01661	0.0053	N	0.11892	0.195	0.09310	N	1	B	0.30326	0.276	B	0.32211	0.142	T	0.46652	-0.9176	10	0.66056	D	0.02	.	0.3463	0.00342	0.1883:0.2061:0.194:0.4116	.	63	Q8NH72	OR4C6_HUMAN	I	63	ENSP00000324769:F63I	ENSP00000324769:F63I	F	+	1	0	OR4C6	55189405	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.585000	0.05794	1.387000	0.46486	0.444000	0.29173	TTC	.		0.433	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704	
OR5D16	390144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	55606310	55606310	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55606310C>T	ENST00000378396.1	+	1	83	c.83C>T	c.(82-84)cCc>cTc	p.P28L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTGCAAATTCCCCTCTTCTTT	0.433																																					p.P28L		.											.	OR5D16-73	0			c.C83T						.						117.0	108.0	111.0					11																	55606310		2201	4296	6497	SO:0001583	missense	390144	exon1			AAATTCCCCTCTT	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.83C>T	11.37:g.55606310C>T	ENSP00000367649:p.Pro28Leu	92	0		73	41	NM_001005496	0	0	0	0	0	Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	6.203	0.405543	0.11754	.	.	ENSG00000205029	ENST00000378396	T	0.00036	8.86	4.04	1.01	0.19927	.	.	.	.	.	T	0.00073	0.0002	N	0.10760	0.04	0.09310	N	1	B	0.21452	0.056	B	0.31245	0.126	T	0.00783	-1.1568	9	0.10111	T	0.7	-31.7045	8.4556	0.32897	0.0:0.6375:0.0:0.3625	.	28	Q8NGK9	OR5DG_HUMAN	L	28	ENSP00000367649:P28L	ENSP00000367649:P28L	P	+	2	0	OR5D16	55362886	0.000000	0.05858	0.006000	0.13384	0.739000	0.42172	-1.543000	0.02194	0.332000	0.23536	0.530000	0.56133	CCC	.		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496	
OR5W2	390148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	55681212	55681212	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55681212G>C	ENST00000344514.1	-	1	846	c.847C>G	c.(847-849)Ccc>Gcc	p.P283A		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTCAACATGGGAACCACAAGG	0.358																																					p.P283A	Melanoma(48;171 1190 15239 43886 49348)	.											.	OR5W2-70	0			c.C847G						.						48.0	54.0	52.0					11																	55681212		2201	4296	6497	SO:0001583	missense	390148	exon1			ACATGGGAACCAC	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.847C>G	11.37:g.55681212G>C	ENSP00000342448:p.Pro283Ala	93	0		53	16	NM_001001960	0	0	0	0	0		Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770675	0.31320	.	.	ENSG00000187612	ENST00000344514	T	0.00340	8.04	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001169	T	0.01254	0.0041	M	0.94101	3.495	0.34653	D	0.72183	D	0.76494	0.999	D	0.87578	0.998	T	0.38394	-0.9663	10	0.87932	D	0	.	15.4853	0.75560	0.0:0.0:1.0:0.0	.	283	Q8NH69	OR5W2_HUMAN	A	283	ENSP00000342448:P283A	ENSP00000342448:P283A	P	-	1	0	OR5W2	55437788	0.998000	0.40836	0.964000	0.40570	0.010000	0.07245	3.368000	0.52357	2.228000	0.72767	0.549000	0.68633	CCC	.		0.358	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
OR8H1	219469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	56058500	56058500	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:56058500G>T	ENST00000313022.2	-	1	66	c.39C>A	c.(37-39)atC>atA	p.I13I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTCCCGTAAGGATGAAGTCAG	0.383																																					p.I13I		.											.	OR8H1-71	0			c.C39A						.						106.0	101.0	103.0					11																	56058500		2201	4296	6497	SO:0001819	synonymous_variant	219469	exon1			CGTAAGGATGAAG	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.39C>A	11.37:g.56058500G>T		41	0		29	16	NM_001005199	0	0	0	0	0	B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	CCDS31526.1																																																																																			.		0.383	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
OR8U1	219417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	56143148	56143148	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:56143148C>A	ENST00000302270.1	+	1	49	c.49C>A	c.(49-51)Ctc>Atc	p.L17I		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCTTGTGGGCCTCACAGACCA	0.438																																					p.L17I		.											.	OR8U1-72	0			c.C49A						.						146.0	132.0	136.0					11																	56143148		1889	4109	5998	SO:0001583	missense	219417	exon1			GTGGGCCTCACAG	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.49C>A	11.37:g.56143148C>A	ENSP00000304188:p.Leu17Ile	115	0		71	44	NM_001005204	0	0	0	0	0		Missense_Mutation	SNP	ENST00000302270.1	37	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	C	0.351	-0.944938	0.02304	.	.	ENSG00000172199	ENST00000302270	T	0.01406	4.93	5.87	1.49	0.22878	.	0.167338	0.28706	N	0.014409	T	0.01592	0.0051	L	0.58101	1.795	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.44112	-0.9349	10	0.36615	T	0.2	.	2.7894	0.05384	0.3924:0.3225:0.0:0.285	.	17	Q8NH10	OR8U1_HUMAN	I	17	ENSP00000304188:L17I	ENSP00000304188:L17I	L	+	1	0	OR8U1	55899724	0.001000	0.12720	0.999000	0.59377	0.003000	0.03518	-0.106000	0.10890	0.786000	0.33708	-0.148000	0.13756	CTC	.		0.438	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204	
OR5R1	219479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	56185247	56185247	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:56185247C>A	ENST00000312253.1	-	1	461	c.462G>T	c.(460-462)ctG>ctT	p.L154L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGAGGGCAACCAGGAAGCTGT	0.443																																					p.L154L		.											.	OR5R1-70	0			c.G462T						.						111.0	113.0	113.0					11																	56185247		2201	4296	6497	SO:0001819	synonymous_variant	219479	exon1			GGCAACCAGGAAG	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.462G>T	11.37:g.56185247C>A		137	0		94	56	NM_001004744	0	0	0	0	0		Silent	SNP	ENST00000312253.1	37	CCDS31530.1																																																																																			.		0.443	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744	
OR1S2	219958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	57970677	57970677	+	Nonstop_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:57970677C>G	ENST00000302592.6	-	1	976	c.977G>C	c.(976-978)tGa>tCa	p.*326S		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*326S(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TCCAGGGCATCAAAGGGAAGA	0.408																																					p.X326S		.											.	OR1S2-69	1	Nonstop extension(1)	lung(1)	c.G977C						.						127.0	129.0	129.0					11																	57970677		2201	4296	6497	SO:0001578	stop_lost	219958	exon1			GGGCATCAAAGGG	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.977G>C	11.37:g.57970677C>G		170	0		104	66	NM_001004459	0	0	0	0	0	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777818	0.31502	.	.	ENSG00000197887	ENST00000302592	.	.	.	4.65	2.14	0.27477	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.899	0.29723	0.0:0.7586:0.0:0.2414	.	.	.	.	S	326	.	.	X	-	2	2	OR1S2	57727253	0.000000	0.05858	0.153000	0.22517	0.182000	0.23217	-0.101000	0.10973	0.576000	0.29452	-0.140000	0.14226	TGA	.		0.408	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459	
OR5B3	441608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	58170454	58170454	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:58170454G>A	ENST00000309403.2	-	1	428	c.429C>T	c.(427-429)gcC>gcT	p.A143A		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGAGCCTATGGCCAGACGAG	0.483																																					p.A143A		.											.	OR5B3-68	0			c.C429T						.						117.0	106.0	110.0					11																	58170454		2201	4295	6496	SO:0001819	synonymous_variant	441608	exon1			GCCTATGGCCAGA	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.429C>T	11.37:g.58170454G>A		152	0		97	57	NM_001005469	0	0	0	0	0	Q6IEV6	Silent	SNP	ENST00000309403.2	37	CCDS31549.1																																																																																			.		0.483	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469	
OR5B2	390190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	58190520	58190520	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:58190520G>T	ENST00000302581.2	-	1	266	c.215C>A	c.(214-216)tCc>tAc	p.S72Y		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GACAGCTGAGGAGTATCCAAA	0.498																																					p.S72Y		.											.	OR5B2-71	0			c.C215A						.						117.0	106.0	110.0					11																	58190520		2201	4295	6496	SO:0001583	missense	390190	exon1			GCTGAGGAGTATC	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.215C>A	11.37:g.58190520G>T	ENSP00000303076:p.Ser72Tyr	189	0		129	80	NM_001005566	0	0	0	0	0	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660172	0.29515	.	.	ENSG00000172365	ENST00000302581	T	0.00840	5.63	3.8	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34828	U	0.003658	T	0.07908	0.0198	H	0.98178	4.165	0.09310	N	1	D	0.65815	0.995	D	0.63381	0.914	T	0.12708	-1.0537	10	0.87932	D	0	-16.9951	8.1436	0.31097	0.2058:0.0:0.7942:0.0	.	72	Q96R09	OR5B2_HUMAN	Y	72	ENSP00000303076:S72Y	ENSP00000303076:S72Y	S	-	2	0	OR5B2	57947096	0.288000	0.24324	0.595000	0.28798	0.160000	0.22226	3.440000	0.52886	0.944000	0.37579	0.645000	0.84053	TCC	.		0.498	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566	
OR5B12	390191	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	58207133	58207133	+	Silent	SNP	G	G	A	rs146093633		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:58207133G>A	ENST00000302572.2	-	1	513	c.492C>T	c.(490-492)ctC>ctT	p.L164L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACAGAAGGAGAGCCTGAAAG	0.443																																					p.L164L		.											.	OR5B12-68	0			c.C492T						.	G		1,4401	2.1+/-5.4	0,1,2200	123.0	114.0	117.0		492	-2.8	0.5	11	dbSNP_134	117	0,8590		0,0,4295	no	coding-synonymous	OR5B12	NM_001004733.2		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		164/315	58207133	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	390191	exon1			GAAGGAGAGCCTG	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.492C>T	11.37:g.58207133G>A		161	0		139	83	NM_001004733	0	0	0	0	0	B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	CCDS31551.1																																																																																			G|1.000;A|0.000		0.443	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733	
OR5AN1	390195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	59132631	59132631	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:59132631G>T	ENST00000313940.2	+	1	747	c.700G>T	c.(700-702)Ggc>Tgc	p.G234C		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TTCAGCTAAAGGCAGGTCCAA	0.423																																					p.G234C		.											.	OR5AN1-69	0			c.G700T						.						217.0	200.0	206.0					11																	59132631		2201	4295	6496	SO:0001583	missense	390195	exon1			GCTAAAGGCAGGT	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.700G>T	11.37:g.59132631G>T	ENSP00000320302:p.Gly234Cys	164	0		112	69	NM_001004729	0	0	0	0	0	B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121309	0.56613	.	.	ENSG00000176495	ENST00000313940	T	0.00304	8.19	4.51	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.239840	0.29737	N	0.011331	T	0.01222	0.0040	H	0.98068	4.14	0.32829	D	0.503749	D	0.89917	1.0	D	0.85130	0.997	T	0.02539	-1.1144	10	0.87932	D	0	-7.9502	12.8553	0.57882	0.0:0.0:0.8355:0.1645	.	234	Q8NGI8	O5AN1_HUMAN	C	234	ENSP00000320302:G234C	ENSP00000320302:G234C	G	+	1	0	OR5AN1	58889207	0.174000	0.23070	0.839000	0.33178	0.990000	0.78478	1.048000	0.30379	1.183000	0.42943	0.655000	0.94253	GGC	.		0.423	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729	
CCDC86	79080	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	60617436	60617436	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:60617436G>T	ENST00000227520.5	+	3	966	c.912G>T	c.(910-912)gaG>gaT	p.E304D	CCDC86_ENST00000545580.1_Missense_Mutation_p.E48D|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	304					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCCGGGCTGAGAACCTGAAAC	0.612																																					p.E304D		.											.	CCDC86-90	0			c.G912T						.						86.0	82.0	84.0					11																	60617436		2203	4299	6502	SO:0001583	missense	79080	exon3			GGCTGAGAACCTG	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.912G>T	11.37:g.60617436G>T	ENSP00000227520:p.Glu304Asp	146	1		95	45	NM_024098	0	0	0	0	0	B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386869	0.61956	.	.	ENSG00000110104	ENST00000227520;ENST00000545580	T;T	0.78816	0.12;-1.21	4.8	2.89	0.33648	.	0.055044	0.64402	D	0.000001	T	0.81964	0.4934	M	0.83118	2.625	0.43377	D	0.995479	P	0.46142	0.873	P	0.52793	0.709	T	0.79876	-0.1618	10	0.62326	D	0.03	-30.3331	4.866	0.13609	0.1804:0.0:0.6528:0.1668	.	304	Q9H6F5	CCD86_HUMAN	D	304;48	ENSP00000227520:E304D;ENSP00000440906:E48D	ENSP00000227520:E304D	E	+	3	2	CCDC86	60374012	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	1.746000	0.38288	0.607000	0.29982	0.561000	0.74099	GAG	.		0.612	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098	
LRRC10B	390205	hgsc.bcm.edu	37	11	61277031	61277031	+	Silent	SNP	C	C	T	rs1139011	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:61277031C>T	ENST00000378075.2	+	1	760	c.561C>T	c.(559-561)ctC>ctT	p.L187L	MIR4488_ENST00000577388.1_RNA	NM_001145077.1	NP_001138549.1	A6NIK2	LR10B_HUMAN	leucine rich repeat containing 10B	187																	TGCACATCCTCGACCTCGACC	0.731													c|||	986	0.196885	0.0068	0.2637	5008	,	,		12936	0.4474		0.0636	False		,,,				2504	0.2853				p.L187L		.											.	.	0			c.C561T						.						5.0	7.0	6.0					11																	61277031		659	1526	2185	SO:0001819	synonymous_variant	390205	exon1			CATCCTCGACCTC		CCDS44621.1	11q12.2	2009-09-08			ENSG00000204950	ENSG00000204950			37215	protein-coding gene	gene with protein product							Standard	NM_001145077		Approved		uc010rlk.2	A6NIK2		ENST00000378075.2:c.561C>T	11.37:g.61277031C>T		3	0		25	6	NM_001145077	0	0	0	0	0		Silent	SNP	ENST00000378075.2	37	CCDS44621.1																																																																																			C|0.816;T|0.184		0.731	LRRC10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398623.1	NM_001145077	
MYRF	745	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	61533677	61533677	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:61533677G>T	ENST00000278836.5	+	3	478	c.382G>T	c.(382-384)Gct>Tct	p.A128S	TMEM258_ENST00000535042.1_5'Flank|MYRF_ENST00000265460.5_Missense_Mutation_p.A119S	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	128	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGAGCCCAAGGCTCCCTATGC	0.677																																					p.A128S		.											.	.	0			c.G382T						.						13.0	17.0	16.0					11																	61533677		2096	4126	6222	SO:0001583	missense	745	exon3			CCCAAGGCTCCCT		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.382G>T	11.37:g.61533677G>T	ENSP00000278836:p.Ala128Ser	58	1		61	38	NM_001127392	0	0	0	0	0	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797928	0.70567	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.36878	1.24;1.23	4.44	4.44	0.53790	.	0.120658	0.56097	D	0.000025	T	0.27349	0.0671	N	0.19112	0.55	0.80722	D	1	P;P	0.52316	0.952;0.851	P;B	0.47299	0.543;0.217	T	0.01390	-1.1367	10	0.22706	T	0.39	-14.2674	11.5039	0.50454	0.0846:0.0:0.9154:0.0	.	119;128	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	S	128;119	ENSP00000278836:A128S;ENSP00000265460:A119S	ENSP00000265460:A119S	A	+	1	0	C11orf9	61290253	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	4.522000	0.60539	2.420000	0.82092	0.561000	0.74099	GCT	.		0.677	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279	
SLC22A24	283238	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	62886491	62886491	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:62886491G>T	ENST00000417740.1	-	4	1164	c.723C>A	c.(721-723)taC>taA	p.Y241*	SLC22A24_ENST00000326192.5_Nonsense_Mutation_p.Y241*	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	241					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						GCCCAACACTGTAGGAACATA	0.428																																					p.Y241X		.											.	.	0			c.C723A						.						153.0	133.0	139.0					11																	62886491		692	1591	2283	SO:0001587	stop_gained	283238	exon4			AACACTGTAGGAA		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.723C>A	11.37:g.62886491G>T	ENSP00000396586:p.Tyr241*	181	2		147	95	NM_001136506	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000417740.1	37		.	.	.	.	.	.	.	.	.	.	G	31	5.076350	0.94000	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	.	.	.	3.86	2.94	0.34122	.	0.559403	0.18994	U	0.125539	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	6.0769	0.19921	0.2332:0.0:0.7668:0.0	.	.	.	.	X	241	.	ENSP00000321549:Y241X	Y	-	3	2	SLC22A24	62643067	0.000000	0.05858	0.004000	0.12327	0.021000	0.10359	-0.490000	0.06482	0.851000	0.35264	0.501000	0.49751	TAC	.		0.428	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000383747.1	NM_173586	
MACROD1	28992	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	63885551	63885551	+	Intron	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:63885551G>A	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.G604G|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGAGTCAGGGACCAAGAAGG	0.597																																					p.G604G		.											.	FLRT1-90	0			c.G1812A						.						52.0	51.0	51.0					11																	63885551		2201	4297	6498	SO:0001627	intron_variant	23769	exon2			GTCAGGGACCAAG	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33159C>T	11.37:g.63885551G>A		178	1		171	79	NM_013280	0	0	0	0	0	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																			.		0.597	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067	
NRXN2	9379	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	64375221	64375221	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:64375221G>A	ENST00000377551.1	-	22	4797	c.4586C>T	c.(4585-4587)cCc>cTc	p.P1529L	NRXN2_ENST00000301894.2_Missense_Mutation_p.P483L|NRXN2_ENST00000265459.6_Missense_Mutation_p.P1529L|NRXN2_ENST00000409571.1_Missense_Mutation_p.P1522L|NRXN2_ENST00000377559.3_Missense_Mutation_p.P1459L			Q9P2S2	NRX2A_HUMAN	neurexin 2	1529					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGTTTGCGGGGTGACAGGAG	0.711																																					p.P1529L		.											.	NRXN2-232	0			c.C4586T						.						40.0	38.0	39.0					11																	64375221		2181	4282	6463	SO:0001583	missense	9379	exon23			TTGCGGGGTGACA		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4586C>T	11.37:g.64375221G>A	ENSP00000366774:p.Pro1529Leu	59	0		124	58	NM_015080	0	0	0	0	0	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886304	0.51908	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.60672	0.68;0.17;0.2;0.17;0.27	3.37	3.37	0.38596	.	0.000000	0.43110	U	0.000620	T	0.49457	0.1558	N	0.19112	0.55	0.58432	D	0.999998	B;B;D;B	0.53619	0.206;0.006;0.961;0.155	B;B;P;B	0.49637	0.085;0.015;0.617;0.108	T	0.55866	-0.8073	10	0.59425	D	0.04	.	12.6086	0.56538	0.0:0.0:1.0:0.0	.	1459;1529;1275;483	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	L	483;1529;1459;1529;1459;1522	ENSP00000301894:P483L;ENSP00000366774:P1529L;ENSP00000366782:P1459L;ENSP00000265459:P1529L;ENSP00000386416:P1522L	ENSP00000265459:P1529L	P	-	2	0	NRXN2	64131797	1.000000	0.71417	0.973000	0.42090	0.806000	0.45545	8.792000	0.91856	1.899000	0.54978	0.313000	0.20887	CCC	.		0.711	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	
NRXN2	9379	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	64402917	64402917	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:64402917G>T	ENST00000377551.1	-	17	3622	c.3411C>A	c.(3409-3411)acC>acA	p.T1137T	NRXN2_ENST00000301894.2_Silent_p.T91T|NRXN2_ENST00000265459.6_Silent_p.T1137T|NRXN2_ENST00000409571.1_Silent_p.T1130T|NRXN2_ENST00000377559.3_Silent_p.T1097T			Q9P2S2	NRX2A_HUMAN	neurexin 2	1137	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGATGTATGTGGTCCCGGCTG	0.597																																					p.T1137T		.											.	NRXN2-232	0			c.C3411A						.						37.0	35.0	35.0					11																	64402917		2201	4297	6498	SO:0001819	synonymous_variant	9379	exon18			GTATGTGGTCCCG		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3411C>A	11.37:g.64402917G>T		62	1		98	33	NM_015080	0	0	0	0	0	A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																			.		0.597	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	
ZFPL1	7542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	64855517	64855517	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:64855517G>T	ENST00000294258.3	+	8	1016	c.864G>T	c.(862-864)cgG>cgT	p.R288R	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	288					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCCTAGGCCGGGCCGCAGCTG	0.682																																					p.R288R		.											.	ZFPL1-91	0			c.G864T						.						86.0	85.0	85.0					11																	64855517		2201	4297	6498	SO:0001819	synonymous_variant	7542	exon8			AGGCCGGGCCGCA		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.864G>T	11.37:g.64855517G>T		58	0		100	41	NM_006782	0	0	0	0	0	A8K7E9|O14616|Q9UID0	Silent	SNP	ENST00000294258.3	37	CCDS8092.1																																																																																			.		0.682	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782	
TM7SF2	7108	hgsc.bcm.edu	37	11	64880090	64880090	+	Silent	SNP	G	G	C	rs4930284	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:64880090G>C	ENST00000279263.7	+	2	318	c.156G>C	c.(154-156)ccG>ccC	p.P52P	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_5'UTR|TM7SF2_ENST00000345348.5_Silent_p.P52P	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		8	8	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	
FAM89B	23625	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	65340987	65340987	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:65340987G>T	ENST00000530349.1	+	2	587	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	EHBP1L1_ENST00000309295.4_5'Flank|FAM89B_ENST00000316409.2_Missense_Mutation_p.G136C|FAM89B_ENST00000449319.2_Missense_Mutation_p.G152V			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	149					negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)	transcription corepressor binding (GO:0001222)			large_intestine(1)|urinary_tract(2)	3						ACCGGATGCGGGCCTGTCTGA	0.627																																					p.G152V		.											.	FAM89B-90	0			c.G455T						.						79.0	67.0	71.0					11																	65340987		2201	4297	6498	SO:0001583	missense	23625	exon2			GATGCGGGCCTGT	AF052151	CCDS8105.1, CCDS44648.1, CCDS53662.1	11q23	2007-12-04				ENSG00000176973			16708	protein-coding gene	gene with protein product						9525630, 10512749	Standard	NM_152832		Approved		uc001oel.2	Q8N5H3		ENST00000530349.1:c.445G>T	11.37:g.65340987G>T	ENSP00000431459:p.Gly149Cys	159	1		225	25	NM_001098784	0	0	0	0	0	E9PB01|E9PL72|Q6PJ27	Missense_Mutation	SNP	ENST00000530349.1	37	CCDS53662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.26|19.26	3.792988|3.792988	0.70452|0.70452	.|.	.|.	ENSG00000173465;ENSG00000176973;ENSG00000176973;ENSG00000176973|ENSG00000176973	ENST00000526433;ENST00000316409;ENST00000530349;ENST00000377088|ENST00000449319	.|.	.|.	.|.	4.78|4.78	3.87|3.87	0.44632|0.44632	.|.	0.212222|0.212222	0.23949|0.23949	N|N	0.042970|0.042970	T|T	0.54647|0.54647	0.1871|0.1871	L|L	0.54323|0.54323	1.7|1.7	0.51012|0.51012	D|D	0.9999|0.9999	D;D|B	0.65815|0.09022	0.995;0.995|0.002	P;P|B	0.60682|0.04013	0.878;0.878|0.001	T|T	0.56269|0.56269	-0.8007|-0.8007	9|9	0.87932|0.87932	D|D	0|0	-15.9902|-15.9902	8.5586|8.5586	0.33496|0.33496	0.1035:0.0:0.8965:0.0|0.1035:0.0:0.8965:0.0	.|.	136;149|152	Q8N5H3;E9PL72|E9PB01	FA89B_HUMAN;.|.	C|V	105;136;149;122|152	.|.	ENSP00000314829:G136C|ENSP00000402439:G152V	G|G	+|+	1|2	0|0	SSSCA1;FAM89B|FAM89B	65097563|65097563	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.474000|0.474000	0.32979|0.32979	5.130000|5.130000	0.64745|0.64745	1.247000|1.247000	0.43917|0.43917	0.561000|0.561000	0.74099|0.74099	GGC|GGG	.		0.627	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390095.1	NM_152832	
GAL3ST3	89792	hgsc.bcm.edu	37	11	65810209	65810209	+	Silent	SNP	C	C	T	rs61895584	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:65810209C>T	ENST00000312006.4	-	3	1346	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	GAL3ST3_ENST00000527878.1_Silent_p.P355P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	355					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGGCTGCCACGGCTGCAGCT	0.741													C|||	3763	0.751398	0.5408	0.8746	5008	,	,		7225	0.7649		0.8549	False		,,,				2504	0.8282				p.P355P		.											.	GAL3ST3-91	0			c.G1065A						.	C		1752,666		619,514,76	3.0	2.0	2.0		1065	-9.2	0.7	11	dbSNP_129	2	4565,363		2119,327,18	no	coding-synonymous	GAL3ST3	NM_033036.2		2738,841,94	TT,TC,CC		7.3661,27.5434,14.0076		355/432	65810209	6317,1029	1209	2464	3673	SO:0001819	synonymous_variant	89792	exon3			CTGCCACGGCTGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.1065G>A	11.37:g.65810209C>T		0	0		8	8	NM_033036	0	0	0	0	0	Q14D05	Silent	SNP	ENST00000312006.4	37	CCDS8128.1																																																																																			C|0.233;T|0.767		0.741	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036	
GAL3ST3	89792	hgsc.bcm.edu;broad.mit.edu	37	11	65810462	65810463	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:65810462_65810463delGC	ENST00000312006.4	-	3	1092_1093	c.811_812delGC	c.(811-813)gccfs	p.A272fs	GAL3ST3_ENST00000527878.1_Frame_Shift_Del_p.A272fs	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	272					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CGAGCTGGCGGCGCGCGCGTTG	0.718																																					p.271_271del		.											.	GAL3ST3-91	0			c.811_812del						.																																			SO:0001589	frameshift_variant	89792	exon3			CTGGCGGCGCGCG	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.811_812delGC	11.37:g.65810468_65810469delGC	ENSP00000308591:p.Ala272fs	4	0		54	24	NM_033036	0	0	0	0	0	Q14D05	Frame_Shift_Del	DEL	ENST00000312006.4	37	CCDS8128.1																																																																																			.		0.718	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036	
TMEM151A	256472	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	66062127	66062127	+	Missense_Mutation	SNP	C	C	A	rs528968497		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:66062127C>A	ENST00000327259.4	+	2	554	c.410C>A	c.(409-411)gCg>gAg	p.A137E		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	137						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						ACGGTGCTGGCGCTGATCCGC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		14113	0.0		0.001	False		,,,				2504	0.0				p.A137E		.											.	TMEM151A-90	0			c.C410A						.						20.0	17.0	18.0					11																	66062127		2185	4266	6451	SO:0001583	missense	256472	exon2			TGCTGGCGCTGAT	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.410C>A	11.37:g.66062127C>A	ENSP00000326244:p.Ala137Glu	13	0		93	21	NM_153266	0	0	0	0	0	Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	C	4.182	0.032382	0.08101	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.69	4.69	0.59074	.	0.087086	0.48286	D	0.000191	T	0.11495	0.0280	N	0.00197	-1.87	0.43766	D	0.996288	B	0.16396	0.017	B	0.12156	0.007	T	0.38993	-0.9635	9	0.02654	T	1	.	10.244	0.43330	0.311:0.689:0.0:0.0	.	137	Q8N4L1	T151A_HUMAN	E	137	.	ENSP00000326244:A137E	A	+	2	0	TMEM151A	65818703	1.000000	0.71417	0.476000	0.27291	0.830000	0.47004	5.362000	0.66098	2.438000	0.82558	0.561000	0.74099	GCG	.		0.687	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266	
ACTN3	89	broad.mit.edu;bcgsc.ca	37	11	66326794	66326794	+	lincRNA	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:66326794A>G	ENST00000504911.1	-	0	220				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA																							GAGGCCTTTGAGAGCGACCTG	0.682																																					.		.											.	ACTN3-90	0			.						.						28.0	32.0	31.0					11																	66326794		2192	4289	6481			89	.			CCTTTGAGAGCGA																													11.37:g.66326794A>G		66	1		245	88	.	0	0	0	0	0		RNA	SNP	ENST00000504911.1	37																																																																																				.		0.682	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1		
CCS	9973	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	66366693	66366693	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:66366693G>T	ENST00000533244.1	+	3	660	c.219G>T	c.(217-219)gcG>gcT	p.A73A	CCS_ENST00000310190.4_Silent_p.A54A	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	73	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GGCGGCAGGCGGTACTCAAGG	0.612																																					p.A73A		.											.	CCS-90	0			c.G219T						.						64.0	54.0	57.0					11																	66366693		2200	4295	6495	SO:0001819	synonymous_variant	9973	exon3			GCAGGCGGTACTC	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.219G>T	11.37:g.66366693G>T		87	0		90	20	NM_005125	0	0	0	0	0	Q2M366|Q8NEV0	Silent	SNP	ENST00000533244.1	37	CCDS8146.1																																																																																			.		0.612	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125	
SPTBN2	6712	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	66466921	66466921	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:66466921G>C	ENST00000533211.1	-	18	4063	c.3732C>G	c.(3730-3732)atC>atG	p.I1244M	SPTBN2_ENST00000529997.1_Missense_Mutation_p.I1244M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.I1244M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1244					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						TGTCGGCGTGGATGTTGCCTT	0.552																																					p.I1244M		.											.	SPTBN2-155	0			c.C3732G						.						95.0	90.0	92.0					11																	66466921		2200	4295	6495	SO:0001583	missense	6712	exon17			GGCGTGGATGTTG	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.3732C>G	11.37:g.66466921G>C	ENSP00000432568:p.Ile1244Met	147	2		197	79	NM_006946	0	0	0	0	0	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.823025	0.32237	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.49720	0.77;0.77;0.77	5.16	4.23	0.50019	.	0.352176	0.29916	N	0.010866	T	0.63534	0.2519	M	0.77616	2.38	0.30991	N	0.721428	D	0.63046	0.992	P	0.60345	0.873	T	0.65730	-0.6097	10	0.40728	T	0.16	.	13.0942	0.59182	0.0808:0.0:0.9192:0.0	.	1244	O15020	SPTN2_HUMAN	M	1244	ENSP00000432568:I1244M;ENSP00000311489:I1244M;ENSP00000433593:I1244M	ENSP00000311489:I1244M	I	-	3	3	SPTBN2	66223497	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	0.674000	0.25218	2.670000	0.90874	0.591000	0.81541	ATC	.		0.552	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
RHOD	29984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	66838961	66838961	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:66838961G>A	ENST00000308831.2	+	5	606	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	RHOD_ENST00000532559.1_Missense_Mutation_p.R108Q	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	174					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|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)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						TGCTCGGCTCGGCTCCATGAC	0.692																																					p.R174Q		.											.	RHOD-659	0			c.G521A						.						35.0	33.0	34.0					11																	66838961		2200	4293	6493	SO:0001583	missense	29984	exon5			CGGCTCGGCTCCA	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.521G>A	11.37:g.66838961G>A	ENSP00000308576:p.Arg174Gln	38	0		192	41	NM_014578	0	0	0	0	0		Missense_Mutation	SNP	ENST00000308831.2	37	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614505	0.66672	.	.	ENSG00000173156	ENST00000308831;ENST00000532559	T;T	0.70282	-0.47;-0.47	4.27	-1.58	0.08479	.	0.647722	0.12831	N	0.435588	T	0.67739	0.2925	L	0.48642	1.525	0.09310	N	1	D	0.58620	0.983	P	0.49637	0.617	T	0.62618	-0.6816	10	0.36615	T	0.2	-11.1496	12.9416	0.58348	0.0:0.0:0.5591:0.4409	.	174	O00212	RHOD_HUMAN	Q	174;108	ENSP00000308576:R174Q;ENSP00000432003:R108Q	ENSP00000308576:R174Q	R	+	2	0	RHOD	66595537	0.998000	0.40836	0.000000	0.03702	0.648000	0.38561	2.489000	0.45285	-0.563000	0.06078	0.561000	0.74099	CGG	.		0.692	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578	
GPR152	390212	bcgsc.ca;mdanderson.org	37	11	67219676	67219676	+	Missense_Mutation	SNP	C	C	T	rs368998457	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:67219676C>T	ENST00000312457.2	-	1	524	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TACCACCAGACGGCAGCCTCG	0.672													C|||	3	0.000599042	0.0	0.0043	5008	,	,		17297	0.0		0.0	False		,,,				2504	0.0				p.V174I	Pancreas(102;800 1581 2723 7382 33622)	.											.	GPR152-90	0			c.G520A						.	C	ILE/VAL	0,4398		0,0,2199	54.0	61.0	59.0		520	0.9	0.2	11		59	1,8589	1.2+/-3.3	0,1,4294	no	missense	GPR152	NM_206997.1	29	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	174/471	67219676	1,12987	2199	4295	6494	SO:0001583	missense	390212	exon1			ACCAGACGGCAGC	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.520G>A	11.37:g.67219676C>T	ENSP00000310255:p.Val174Ile	36	1		131	48	NM_206997	0	0	0	0	0	Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	5.308	0.242105	0.10077	0.0	1.16E-4	ENSG00000175514	ENST00000312457	T	0.71934	-0.61	4.82	0.897	0.19258	GPCR, rhodopsin-like superfamily (1);	0.224875	0.22329	N	0.061481	T	0.43787	0.1263	N	0.08118	0	0.09310	N	1	B	0.23185	0.081	B	0.15484	0.013	T	0.22941	-1.0202	10	0.30078	T	0.28	.	7.2502	0.26146	0.0:0.5306:0.0:0.4694	.	174	Q8TDT2	GP152_HUMAN	I	174	ENSP00000310255:V174I	ENSP00000310255:V174I	V	-	1	0	GPR152	66976252	0.000000	0.05858	0.233000	0.24025	0.408000	0.30992	-0.771000	0.04699	0.009000	0.14813	0.561000	0.74099	GTC	.		0.672	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1		
PITPNM1	9600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	67264702	67264702	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:67264702C>A	ENST00000534749.1	-	13	2334	c.2146G>T	c.(2146-2148)Gca>Tca	p.A716S	PITPNM1_ENST00000356404.3_Splice_Site_p.A716S|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000436757.2_Splice_Site_p.A716S			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	716	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TAGGACTCACCCTCCAGGGCG	0.637																																					p.A716S	GBM(28;144 709 4607 5525)	.											.	PITPNM1-227	0			c.G2146T						.						21.0	23.0	22.0					11																	67264702		2196	4292	6488	SO:0001630	splice_region_variant	9600	exon14			ACTCACCCTCCAG	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2146+1G>T	11.37:g.67264702C>A		210	0		240	100	NM_001130848	0	0	0	0	0	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505359	0.64410	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.41065	1.02;1.01;1.02	4.41	4.41	0.53225	DDHD (2);	0.278485	0.25096	N	0.033164	T	0.30324	0.0761	N	0.25380	0.74	0.39974	D	0.974828	P;B	0.40230	0.708;0.002	B;B	0.36534	0.227;0.039	T	0.13415	-1.0510	9	.	.	.	-10.4249	16.024	0.80528	0.0:1.0:0.0:0.0	.	716;716	O00562-2;O00562	.;PITM1_HUMAN	S	716	ENSP00000437286:A716S;ENSP00000398787:A716S;ENSP00000348772:A716S	.	A	-	1	0	PITPNM1	67021278	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.446000	0.60014	2.208000	0.71279	0.555000	0.69702	GCA;GCC;GCA	.		0.637	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910	Missense_Mutation
FGF3	2248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	69625429	69625429	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:69625429G>T	ENST00000334134.2	-	3	454	c.364C>A	c.(364-366)Cac>Aac	p.H122N		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	122					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.H122N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCCAGCTCGTGGATCCGCTCC	0.647																																					p.H122N		.											.	FGF3-847	1	Substitution - Missense(1)	prostate(1)	c.C364A						.						41.0	46.0	45.0					11																	69625429		2198	4288	6486	SO:0001583	missense	2248	exon3			GCTCGTGGATCCG		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.364C>A	11.37:g.69625429G>T	ENSP00000334122:p.His122Asn	211	1		204	104	NM_005247	0	0	0	0	0	Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069131	0.76301	.	.	ENSG00000186895	ENST00000334134	T	0.81163	-1.46	3.92	3.92	0.45320	.	0.052603	0.85682	D	0.000000	D	0.87006	0.6070	L	0.56769	1.78	0.58432	D	0.999993	D	0.69078	0.997	D	0.76071	0.987	D	0.86883	0.2043	9	.	.	.	.	15.9315	0.79663	0.0:0.0:1.0:0.0	.	122	P11487	FGF3_HUMAN	N	122	ENSP00000334122:H122N	.	H	-	1	0	FGF3	69334610	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.979000	0.76154	1.714000	0.51371	0.462000	0.41574	CAC	.		0.647	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247	
SHANK2	22941	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	70331792	70331792	+	Missense_Mutation	SNP	C	C	A	rs532381199		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:70331792C>A	ENST00000423696.2	-	15	3505	c.3469G>T	c.(3469-3471)Ggg>Tgg	p.G1157W	SHANK2_ENST00000449833.2_Missense_Mutation_p.G941W|SHANK2_ENST00000409161.1_Missense_Mutation_p.G940W|SHANK2_ENST00000338508.4_Missense_Mutation_p.G1537W			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1157					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.G1537W(1)|p.G941W(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AATGCTTGCCCATCTGCATAG	0.507																																					p.G948W		.											.	SHANK2-94	2	Substitution - Missense(2)	lung(2)	c.G2842T						.						140.0	124.0	129.0					11																	70331792		2200	4294	6494	SO:0001583	missense	22941	exon10			CTTGCCCATCTGC	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3469G>T	11.37:g.70331792C>A	ENSP00000394536:p.Gly1157Trp	211	1		161	76	NM_133266	0	0	0	0	0	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37		.	.	.	.	.	.	.	.	.	.	C	19.22	3.786429	0.70337	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77	5.42	5.42	0.78866	.	0.093157	0.85682	D	0.000000	T	0.58452	0.2123	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.64833	-0.6314	10	0.87932	D	0	.	19.2305	0.93836	0.0:1.0:0.0:0.0	.	1157;1536;941	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	W	941;940;815;1537;1157;1175;1160	ENSP00000399423:G941W;ENSP00000386491:G940W;ENSP00000402944:G815W;ENSP00000345193:G1537W;ENSP00000394536:G1157W;ENSP00000294018:G1160W	ENSP00000294018:G1160W	G	-	1	0	SHANK2	70009440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.254000	0.78329	2.549000	0.85964	0.655000	0.94253	GGG	.		0.507	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309	
KRTAP5-9	3846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	71259735	71259735	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:71259735G>T	ENST00000528743.2	+	1	270	c.32G>T	c.(31-33)gGc>gTc	p.G11V		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	11					epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGAGGCTGTGGCTCCAGCTGT	0.657																																					p.G11V		.											.	.	0			c.G32T						.						67.0	78.0	74.0					11																	71259735		2200	4293	6493	SO:0001583	missense	3846	exon1			GCTGTGGCTCCAG	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.32G>T	11.37:g.71259735G>T	ENSP00000431443:p.Gly11Val	405	1		331	189	NM_005553	0	0	0	0	0	Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	CCDS53677.1	.	.	.	.	.	.	.	.	.	.	N	4.103	0.017249	0.07959	.	.	ENSG00000254997	ENST00000528743	T	0.05199	3.48	1.47	0.396	0.16309	.	.	.	.	.	T	0.09862	0.0242	M	0.90309	3.105	0.45066	D	0.998087	B	0.31209	0.313	B	0.24155	0.051	T	0.03060	-1.1077	9	0.36615	T	0.2	.	5.4062	0.16323	0.0:0.361:0.639:0.0	.	11	P26371	KRA59_HUMAN	V	11	ENSP00000431443:G11V	ENSP00000431443:G11V	G	+	2	0	KRTAP5-9	70937383	0.660000	0.27420	0.996000	0.52242	0.272000	0.26649	1.588000	0.36633	0.137000	0.18759	0.442000	0.29010	GGC	.		0.657	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2		
UCP2	7351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	73687909	73687909	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:73687909T>A	ENST00000310473.3	-	5	1333	c.491A>T	c.(490-492)aAg>aTg	p.K164M	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Missense_Mutation_p.K164M	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	164					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GGCAATGGTCTTGTAGGCATT	0.592																																					p.K164M	Colon(191;388 2040 43557 45622 48925)	.											.	UCP2-90	0			c.A491T						.						136.0	127.0	130.0					11																	73687909		2200	4293	6493	SO:0001583	missense	7351	exon5			ATGGTCTTGTAGG	U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.491A>T	11.37:g.73687909T>A	ENSP00000312029:p.Lys164Met	281	0		229	116	NM_003355	0	0	0	0	0	Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	t	18.06	3.538345	0.65085	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615;ENST00000545212	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.92	3.59	0.41128	Mitochondrial carrier domain (2);	0.204155	0.48767	D	0.000170	D	0.85813	0.5784	M	0.72894	2.215	0.35036	D	0.759308	P;P	0.35328	0.495;0.494	P;P	0.55871	0.459;0.786	D	0.84887	0.0834	10	0.32370	T	0.25	-0.5815	7.456	0.27266	0.0:0.3377:0.0:0.6623	.	164;164	F5GX45;P55851	.;UCP2_HUMAN	M	164;164;137;48	ENSP00000312029:K164M;ENSP00000441147:K164M;ENSP00000439951:K137M;ENSP00000439706:K48M	ENSP00000312029:K164M	K	-	2	0	UCP2	73365557	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	0.811000	0.27198	0.494000	0.27859	-0.360000	0.07572	AAG	.		0.592	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355	
ARRB1	408	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	11	74978733	74978733	+	Missense_Mutation	SNP	T	T	A	rs373898995		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:74978733T>A	ENST00000420843.2	-	15	1205	c.1108A>T	c.(1108-1110)Acg>Tcg	p.T370S	ARRB1_ENST00000360025.3_Missense_Mutation_p.T362S|CTD-2562J17.9_ENST00000529304.1_RNA|ARRB1_ENST00000393505.4_Missense_Mutation_p.T370S	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	370	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TCTACTGGCGTCTCGTTCTCT	0.607													T|||	1	0.000199681	0.0	0.0014	5008	,	,		10869	0.0		0.0	False		,,,				2504	0.0				p.T370S		.											.	ARRB1-567	0			c.A1108T						.	T	SER/THR,SER/THR	1,4399	2.1+/-5.4	0,1,2199	56.0	53.0	54.0		1108,1084	-1.3	0.4	11		54	0,8586		0,0,4293	no	missense,missense	ARRB1	NM_004041.4,NM_020251.3	58,58	0,1,6492	AA,AT,TT		0.0,0.0227,0.0077	benign,benign	370/419,362/411	74978733	1,12985	2200	4293	6493	SO:0001583	missense	408	exon15			CTGGCGTCTCGTT	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1108A>T	11.37:g.74978733T>A	ENSP00000409581:p.Thr370Ser	19	0		13	8	NM_004041	0	0	0	0	0	B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	T	8.021	0.759621	0.15846	2.27E-4	0.0	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025	T;T;T	0.09255	3.0;3.0;3.0	5.15	-1.33	0.09172	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.421858	0.21381	N	0.075472	T	0.06050	0.0157	L	0.29908	0.895	0.26157	N	0.980066	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.45160	-0.9280	10	0.09084	T	0.74	-2.7064	9.4048	0.38455	0.0:0.4878:0.0:0.5122	.	362;370	P49407-2;P49407	.;ARRB1_HUMAN	S	370;370;362	ENSP00000409581:T370S;ENSP00000377141:T370S;ENSP00000353124:T362S	ENSP00000353124:T362S	T	-	1	0	ARRB1	74656381	0.546000	0.26457	0.355000	0.25773	0.913000	0.54294	0.381000	0.20619	-0.472000	0.06881	-0.366000	0.07423	ACG	.		0.607	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041	
UVRAG	7405	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	75563004	75563004	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:75563004A>T	ENST00000356136.3	+	2	435	c.194A>T	c.(193-195)tAc>tTc	p.Y65F	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	65	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTTGATACCTACTTTACACTT	0.373																																					p.Y65F		.											.	UVRAG-229	0			c.A194T						.						105.0	107.0	106.0					11																	75563004		2200	4293	6493	SO:0001583	missense	7405	exon2			ATACCTACTTTAC	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.194A>T	11.37:g.75563004A>T	ENSP00000348455:p.Tyr65Phe	92	0		64	33	NM_003369	0	0	0	0	0	B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130026	0.77549	.	.	ENSG00000198382	ENST00000356136	T	0.78003	-1.14	6.06	4.91	0.64330	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.054249	0.85682	D	0.000000	T	0.71576	0.3356	L	0.39633	1.23	0.80722	D	1	B	0.30281	0.275	B	0.36030	0.216	T	0.68239	-0.5461	10	0.44086	T	0.13	-11.6253	10.8127	0.46557	0.8582:0.0:0.0:0.1418	.	65	Q9P2Y5	UVRAG_HUMAN	F	65	ENSP00000348455:Y65F	ENSP00000348455:Y65F	Y	+	2	0	UVRAG	75240652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.257000	0.78362	1.067000	0.40740	0.533000	0.62120	TAC	.		0.373	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	
TMEM135	65084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	87013485	87013485	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:87013485G>T	ENST00000305494.5	+	8	737		c.e8+1		TMEM135_ENST00000340353.7_Splice_Site|TMEM135_ENST00000532959.1_Splice_Site|TMEM135_ENST00000535167.1_Splice_Site	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135						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)				TGGATTCAATGTGAGCTCTTT	0.353																																					.		.											.	TMEM135-514	0			c.632+1G>T						.						137.0	149.0	145.0					11																	87013485		2201	4299	6500	SO:0001630	splice_region_variant	65084	exon7			TTCAATGTGAGCT	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.698+1G>T	11.37:g.87013485G>T		105	0		56	24	NM_001168724	0	0	0	0	0	Q6AW91|Q8ND01|Q9H6M3	Splice_Site	SNP	ENST00000305494.5	37	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860977	0.51482	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8642	0.92285	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM135	86691133	1.000000	0.71417	0.998000	0.56505	0.315000	0.28087	7.916000	0.87491	2.768000	0.95171	0.655000	0.94253	.	.		0.353	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	Intron
CTSC	1075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	88045699	88045699	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:88045699C>G	ENST00000227266.5	-	3	456	c.342G>C	c.(340-342)gtG>gtC	p.V114V		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	114					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTAAGTGGTCACCTTGCTGC	0.458																																					p.V114V		.											.	CTSC-90	0			c.G342C						.						194.0	183.0	186.0					11																	88045699		2201	4299	6500	SO:0001819	synonymous_variant	1075	exon3			AGTGGTCACCTTG	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.342G>C	11.37:g.88045699C>G		62	0		61	32	NM_001814	0	0	0	0	0	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Silent	SNP	ENST00000227266.5	37	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832466	0.02713	.	.	ENSG00000109861	ENST00000527018	.	.	.	5.97	-11.9	0.00025	.	.	.	.	.	.	.	.	.	.	.	0.45822	D	0.998694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5682	0.27892	0.1288:0.4242:0.3189:0.1281	.	.	.	.	S	71	.	.	X	-	2	2	CTSC	87685347	0.005000	0.15991	0.002000	0.10522	0.164000	0.22412	-1.713000	0.01883	-4.205000	0.00065	-0.793000	0.03317	TGA	.		0.458	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814	
GRM5	2915	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	88242036	88242036	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:88242036G>A	ENST00000305447.4	-	9	3512	c.3363C>T	c.(3361-3363)atC>atT	p.I1121I	GRM5_ENST00000455756.2_Silent_p.I1089I|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Silent_p.I1089I|GRM5-AS1_ENST00000531994.1_RNA|GRM5_ENST00000418177.2_Silent_p.I1121I|GRM5-AS1_ENST00000526448.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1121					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.I1089I(1)|p.I1121I(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCGTGACTTCGATGGCCGGCA	0.731																																					p.I1121I		.											.	GRM5-949	2	Substitution - coding silent(2)	large_intestine(2)	c.C3363T						.						8.0	10.0	9.0					11																	88242036		2192	4287	6479	SO:0001819	synonymous_variant	2915	exon9			GACTTCGATGGCC	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3363C>T	11.37:g.88242036G>A		58	0		71	31	NM_001143831	0	0	0	0	0	Q6J164	Silent	SNP	ENST00000305447.4	37	CCDS44694.1																																																																																			.		0.731	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
NOX4	50507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	89223635	89223635	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:89223635C>G	ENST00000263317.4	-	2	382	c.144G>C	c.(142-144)caG>caC	p.Q48H	NOX4_ENST00000534731.1_Missense_Mutation_p.Q48H|NOX4_ENST00000528341.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.Q69H|NOX4_ENST00000343727.5_Missense_Mutation_p.Q24H|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000542487.1_Missense_Mutation_p.Q24H|NOX4_ENST00000424319.1_Missense_Mutation_p.Q24H|NOX4_ENST00000525196.1_Missense_Mutation_p.Q48H|NOX4_ENST00000527956.1_Missense_Mutation_p.Q24H|NOX4_ENST00000535633.1_Missense_Mutation_p.Q24H|NOX4_ENST00000532825.1_Missense_Mutation_p.Q24H|NOX4_ENST00000531342.1_Missense_Mutation_p.Q48H|NOX4_ENST00000375979.3_Missense_Mutation_p.Q48H|NOX4_ENST00000393282.2_Missense_Mutation_p.Q48H			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	48					bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCCCCAACATCTGGTGGAGGT	0.433																																					p.Q48H		.											.	NOX4-515	0			c.G144C						.						134.0	129.0	131.0					11																	89223635		2201	4299	6500	SO:0001583	missense	50507	exon2			CAACATCTGGTGG	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.144G>C	11.37:g.89223635C>G	ENSP00000263317:p.Gln48His	31	0		27	17	NM_001143836	0	0	0	0	0	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865691	0.32977	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000413594;ENST00000531342;ENST00000375979;ENST00000393282	D;D;D;D;D;D;D;D;D;D;D;D	0.95412	-3.63;-3.63;-3.63;-3.61;-3.64;-3.56;-3.7;-3.63;-3.63;-3.67;-3.04;-2.98	5.1	4.18	0.49190	.	0.143604	0.47455	D	0.000223	D	0.91429	0.7295	L	0.42245	1.32	0.42638	D	0.9934	B;P;P;P;B;B	0.41041	0.232;0.736;0.729;0.729;0.002;0.247	B;B;B;B;B;B	0.38056	0.176;0.205;0.264;0.264;0.009;0.146	D	0.88777	0.3268	9	.	.	.	-2.7051	9.9933	0.41885	0.0:0.9038:0.0:0.0962	.	24;48;48;48;48;48	E9PMY6;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;NOX4_HUMAN	H	24;24;24;48;48;48;24;24;24;69;48;48;48	ENSP00000412446:Q24H;ENSP00000440172:Q24H;ENSP00000344747:Q24H;ENSP00000436892:Q48H;ENSP00000436716:Q48H;ENSP00000263317:Q48H;ENSP00000434924:Q24H;ENSP00000433797:Q24H;ENSP00000439373:Q24H;ENSP00000405705:Q69H;ENSP00000435039:Q48H;ENSP00000365146:Q48H	.	Q	-	3	2	NOX4	88863283	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	1.806000	0.38892	1.121000	0.41925	0.313000	0.20887	CAG	.		0.433	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	
FAT3	120114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	92534391	92534391	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:92534391G>A	ENST00000298047.6	+	9	8229	c.8212G>A	c.(8212-8214)Gtc>Atc	p.V2738I	FAT3_ENST00000525166.1_Missense_Mutation_p.V2588I|FAT3_ENST00000409404.2_Missense_Mutation_p.V2738I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2738	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)				CAGTCAGAATGTCTGGTTCAG	0.463										TCGA Ovarian(4;0.039)																											p.V2738I		.											.	FAT3-73	0			c.G8212A						.						57.0	55.0	56.0					11																	92534391		1932	4145	6077	SO:0001583	missense	120114	exon9			CAGAATGTCTGGT	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.8212G>A	11.37:g.92534391G>A	ENSP00000298047:p.Val2738Ile	116	0		56	30	NM_001008781	0	0	0	0	0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	12.32	1.903310	0.33628	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.61040	0.14;0.14;0.14	5.74	5.74	0.90152	.	.	.	.	.	T	0.42877	0.1222	N	0.25031	0.7	0.80722	D	1	B	0.31625	0.332	B	0.29440	0.102	T	0.39057	-0.9632	9	0.06236	T	0.91	.	19.9111	0.97025	0.0:0.0:1.0:0.0	.	2738	Q8TDW7-3	.	I	2738;2738;2588	ENSP00000298047:V2738I;ENSP00000387040:V2738I;ENSP00000432586:V2588I	ENSP00000298047:V2738I	V	+	1	0	FAT3	92174039	0.984000	0.35163	0.404000	0.26397	0.795000	0.44927	4.132000	0.57977	2.722000	0.93159	0.591000	0.81541	GTC	.		0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FOLR4	390243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	94039684	94039684	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:94039684C>T	ENST00000440961.2	+	2	188	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	48					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TTCAGTGCATCCCCTGGAAGG	0.522																																					p.I48I		.											.	FOLR4-23	0			c.C144T						.						175.0	173.0	174.0					11																	94039684		2041	4197	6238	SO:0001819	synonymous_variant	390243	exon2			GTGCATCCCCTGG			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.144C>T	11.37:g.94039684C>T		87	0		79	39	NM_001199206	0	0	0	0	0		Silent	SNP	ENST00000440961.2	37		.	.	.	.	.	.	.	.	.	.	C	3.696	-0.062591	0.07273	.	.	ENSG00000183560	ENST00000328458	.	.	.	4.75	-1.48	0.08745	.	.	.	.	.	T	0.50650	0.1628	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40365	-0.9567	4	.	.	.	-19.6503	6.2057	0.20602	0.1168:0.3238:0.4796:0.0798	.	.	.	.	F	42	.	.	S	+	2	0	FOLR4	93679332	0.001000	0.12720	0.031000	0.17742	0.537000	0.34900	-0.137000	0.10389	-0.322000	0.08615	-0.314000	0.08810	TCC	.		0.522	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486	
CNTN5	53942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	99942487	99942487	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:99942487A>T	ENST00000524871.1	+	12	1640	c.1350A>T	c.(1348-1350)caA>caT	p.Q450H	CNTN5_ENST00000418526.2_Missense_Mutation_p.Q376H|CNTN5_ENST00000528682.1_Missense_Mutation_p.Q450H|CNTN5_ENST00000527185.1_Missense_Mutation_p.Q450H|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q450H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	450	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATGTGAATCAATCAGATGCTG	0.353																																					p.Q450H		.											.	CNTN5-366	0			c.A1350T						.						123.0	115.0	118.0					11																	99942487		1880	4142	6022	SO:0001583	missense	53942	exon11			GAATCAATCAGAT	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1350A>T	11.37:g.99942487A>T	ENSP00000435637:p.Gln450His	127	0		81	50	NM_001243270	0	0	0	0	0	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.639029	0.67130	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.48	-1.45	0.08828	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.266972	0.39759	N	0.001270	T	0.77219	0.4098	N	0.20574	0.59	0.42527	D	0.993024	P;P;P	0.51653	0.947;0.889;0.947	D;P;P	0.64687	0.928;0.774;0.907	T	0.74867	-0.3518	10	0.87932	D	0	.	9.0978	0.36649	0.244:0.1603:0.5957:0.0	.	450;376;450	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	H	450;450;450;376;450	ENSP00000433575:Q450H;ENSP00000436185:Q450H;ENSP00000435637:Q450H;ENSP00000393229:Q376H;ENSP00000279463:Q450H	ENSP00000279463:Q450H	Q	+	3	2	CNTN5	99447697	0.692000	0.27719	0.995000	0.50966	0.986000	0.74619	-0.141000	0.10327	-0.191000	0.10448	-0.254000	0.11334	CAA	.		0.353	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
ATM	472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	108236144	108236144	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:108236144G>T	ENST00000452508.2	+	64	9269	c.9080G>T	c.(9079-9081)aGt>aTt	p.S3027I	ATM_ENST00000278616.4_Missense_Mutation_p.S3027I|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3027	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACTGTGCTCAGTGTTGGTGGA	0.448			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.S3027I		.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	ATM-3419	0			c.G9080T						.						146.0	141.0	143.0					11																	108236144		2201	4298	6499	SO:0001583	missense	472	exon63	Familial Cancer Database	AT, Louis-Bar syndrome	TGCTCAGTGTTGG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9080G>T	11.37:g.108236144G>T	ENSP00000388058:p.Ser3027Ile	67	0		46	28	NM_000051	0	0	0	0	0	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332060	0.81801	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83506	-1.73;-1.73	5.09	5.09	0.68999	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.041854	0.85682	D	0.000000	D	0.94479	0.8223	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96070	0.9045	10	0.87932	D	0	.	18.7508	0.91814	0.0:0.0:1.0:0.0	.	3027	Q13315	ATM_HUMAN	I	3027	ENSP00000278616:S3027I;ENSP00000388058:S3027I	ENSP00000278616:S3027I	S	+	2	0	ATM	107741354	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.289000	0.72696	2.657000	0.90304	0.558000	0.71614	AGT	.		0.448	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ARHGAP20	57569	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	110482045	110482045	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:110482045C>A	ENST00000260283.4	-	8	980	c.696G>T	c.(694-696)atG>atT	p.M232I	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.M209I|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.M196I|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.M206I|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.M206I|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.M196I	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	232	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTATCCCTAGCATTGGTAATG	0.259																																					p.M232I		.											.	ARHGAP20-230	0			c.G696T						.						43.0	39.0	40.0					11																	110482045		2192	4250	6442	SO:0001583	missense	57569	exon8			CCCTAGCATTGGT	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.696G>T	11.37:g.110482045C>A	ENSP00000260283:p.Met232Ile	99	0		48	23	NM_020809	0	0	0	0	0	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420936	0.62622	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	6.16	3.32	0.38043	Ras-association (2);	0.422610	0.30676	N	0.009113	T	0.23688	0.0573	L	0.52011	1.625	0.25779	N	0.984753	P;P	0.45348	0.856;0.826	P;P	0.49887	0.625;0.491	T	0.03739	-1.1008	10	0.59425	D	0.04	.	10.6674	0.45739	0.0:0.7924:0.0:0.2076	.	232;209	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	I	232;206;209;196;206;196	ENSP00000260283:M232I;ENSP00000349660:M206I;ENSP00000432076:M209I;ENSP00000436319:M196I;ENSP00000436522:M206I;ENSP00000431399:M196I	ENSP00000260283:M232I	M	-	3	0	ARHGAP20	109987255	1.000000	0.71417	0.885000	0.34714	0.982000	0.71751	2.516000	0.45520	0.485000	0.27652	0.650000	0.86243	ATG	.		0.259	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
TIMM8B	26521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	111956172	111956172	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:111956172C>A	ENST00000504148.2	-	2	170	c.99G>T	c.(97-99)atG>atT	p.M33I	SDHD_ENST00000526592.1_5'Flank|SDHD_ENST00000528021.1_5'Flank|SDHD_ENST00000528048.1_5'Flank|TIMM8B_ENST00000541231.1_Missense_Mutation_p.M48I|TIMM8B_ENST00000507614.1_5'UTR|SDHD_ENST00000532699.1_5'Flank|SDHD_ENST00000528182.1_5'Flank|SDHD_ENST00000375549.3_5'Flank|SDHD_ENST00000525291.1_5'Flank	NM_012459.2	NP_036591.2	Q9Y5J9	TIM8B_HUMAN	translocase of inner mitochondrial membrane 8 homolog B (yeast)	33					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	zinc ion binding (GO:0008270)			large_intestine(1)	1		all_cancers(61;1.84e-10)|all_epithelial(67;9.33e-06)|Melanoma(852;4.01e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;6.01e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.03e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AACATAACTCCATGAAGTGAT	0.433																																					p.M48I		.											.	TIMM8B-90	0			c.G144T						.						86.0	74.0	78.0					11																	111956172		2201	4297	6498	SO:0001583	missense	26521	exon2			TAACTCCATGAAG	AF150087	CCDS8357.1, CCDS8357.2	11q23.1-q23.2	2010-11-23	2001-11-28		ENSG00000150779	ENSG00000150779			11818	protein-coding gene	gene with protein product	"""mitochondrial import inner membrane translocase subunit Tim8 B"""	606659	"""translocase of inner mitochondrial membrane 8 (yeast) homolog B"""			10552927	Standard	NM_012459		Approved	TIM8B, DDP2, FLJ21744, MGC102866, MGC117373	uc001pmx.3	Q9Y5J9	OTTHUMG00000162261	ENST00000504148.2:c.99G>T	11.37:g.111956172C>A	ENSP00000422122:p.Met33Ile	48	0		42	24	NM_012459	0	0	0	0	0	B0YJA5|Q3KQS9|Q9UN04	Missense_Mutation	SNP	ENST00000504148.2	37		.	.	.	.	.	.	.	.	.	.	C	16.08	3.021185	0.54576	.	.	ENSG00000150779	ENST00000504148;ENST00000541231	T;T	0.62788	0.0;0.0	5.41	5.41	0.78517	.	0.089139	0.85682	N	0.000000	T	0.62392	0.2424	.	.	.	0.35983	D	0.836176	B	0.29886	0.26	B	0.34452	0.183	T	0.70234	-0.4928	9	0.72032	D	0.01	-14.7978	18.0273	0.89273	0.0:1.0:0.0:0.0	.	33	Q9Y5J9	TIM8B_HUMAN	I	33;48	ENSP00000422122:M33I;ENSP00000438455:M48I	ENSP00000422122:M33I	M	-	3	0	TIMM8B	111461382	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.406000	0.34646	2.565000	0.86533	0.549000	0.68633	ATG	.		0.433	TIMM8B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000368270.2	NM_012459	
BCO2	83875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	112087010	112087010	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:112087010A>C	ENST00000357685.5	+	11	1718	c.1583A>C	c.(1582-1584)gAa>gCa	p.E528A	BCO2_ENST00000393032.2_Missense_Mutation_p.E494A|BCO2_ENST00000438022.1_Missense_Mutation_p.E494A|BCO2_ENST00000361053.4_Missense_Mutation_p.E455A|BCO2_ENST00000532593.1_Missense_Mutation_p.E423A|BCO2_ENST00000526088.1_Missense_Mutation_p.E488A|BCO2_ENST00000531169.1_Missense_Mutation_p.E494A			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	528					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ACCAATGAAGAAGATGGTGGG	0.413																																					p.E528A	GBM(177;1916 2099 21049 29541 39946)	.											.	BCO2-68	0			c.A1583C						.						166.0	160.0	162.0					11																	112087010		2201	4297	6498	SO:0001583	missense	83875	exon11			ATGAAGAAGATGG	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.1583A>C	11.37:g.112087010A>C	ENSP00000350314:p.Glu528Ala	128	0		95	57	NM_031938	0	0	0	0	0	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	CCDS8358.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.223096|4.223096	0.79464|0.79464	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169|ENST00000525175	D;D;D;D;D;D;D|.	0.98381|.	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9|.	5.79|5.79	4.67|4.67	0.58626|0.58626	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81823|0.81823	0.4904|0.4904	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.87578|.	0.994;0.998;0.996|.	D|D	0.85013|0.85013	0.0907|0.0907	10|5	0.87932|.	D|.	0|.	-12.9702|-12.9702	10.7771|10.7771	0.46356|0.46356	0.9253:0.0:0.0747:0.0|0.9253:0.0:0.0747:0.0	.|.	499;455;528|.	C9JEZ9;E9PBI8;Q9BYV7|.	.;.;BCDO2_HUMAN|.	A|S	528;494;455;494;488;423;494|62	ENSP00000350314:E528A;ENSP00000376752:E494A;ENSP00000354338:E455A;ENSP00000414843:E494A;ENSP00000436615:E488A;ENSP00000431802:E423A;ENSP00000437053:E494A|.	ENSP00000350314:E528A|.	E|R	+|+	2|3	0|2	BCO2|BCO2	111592220|111592220	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.977000|0.977000	0.68977|0.68977	8.111000|8.111000	0.89564|0.89564	1.030000|1.030000	0.39839|0.39839	0.528000|0.528000	0.53228|0.53228	GAA|AGA	.		0.413	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290	
FXYD2	486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	117691574	117691574	+	Splice_Site	SNP	C	C	T	rs139816783		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:117691574C>T	ENST00000292079.2	-	4	241	c.176G>A	c.(175-177)aGg>aAg	p.R59K	FXYD2_ENST00000514385.1_5'Flank|FXYD6-FXYD2_ENST00000532984.1_3'UTR|FXYD2_ENST00000260287.2_Splice_Site_p.R57K|RP11-728F11.3_ENST00000531850.2_RNA|RP11-728F11.3_ENST00000596805.1_RNA|FXYD2_ENST00000532119.1_Splice_Site_p.R57K|FXYD2_ENST00000528014.1_Splice_Site_p.R57K	NM_001680.4	NP_001671.2	P54710	ATNG_HUMAN	FXYD domain containing ion transport regulator 2	59					ion transmembrane transport (GO:0034220)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ion channel activity (GO:0005216)|sodium:potassium-exchanging ATPase activity (GO:0005391)|transporter activity (GO:0005215)	p.R57K(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)	Cyclothiazide(DB00606)	CAGCGCTCACCTGCGCTTCTT	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10233	0.0		0.0	False		,,,				2504	0.0				p.R137K		.											.	.	1	Substitution - Missense(1)	ovary(1)	c.G410A						.	C	LYS/ARG,LYS/ARG,LYS/ARG	5,4397	9.9+/-24.2	0,5,2196	100.0	119.0	113.0		410,176,170	4.2	0.9	11	dbSNP_134	113	0,8592		0,0,4296	yes	missense-near-splice,missense-near-splice,missense-near-splice	FXYD2,FXYD6-FXYD2	NM_001204268.1,NM_001680.4,NM_021603.3	26,26,26	0,5,6492	TT,TC,CC		0.0,0.1136,0.0385	,,	137/145,59/67,57/65	117691574	5,12989	2201	4296	6497	SO:0001630	splice_region_variant	100533181	exon9			GCTCACCTGCGCT	AF241236	CCDS8385.1, CCDS8386.1	11q23	2008-02-05	2003-02-28						4026	protein-coding gene	gene with protein product		601814	"""hypomagnesemia 2, renal"""	ATP1G1, HOMG2		9048881, 9915957	Standard	NM_021603		Approved	MGC12372		P54710		ENST00000292079.2:c.176+1G>A	11.37:g.117691574C>T		43	0		34	18	NM_001204268	0	0	0	0	0	Q15332|Q53YC1|Q9GZP3|Q9GZQ7	Missense_Mutation	SNP	ENST00000292079.2	37	CCDS8386.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252889	0.80135	0.001136	0.0	ENSG00000137731	ENST00000532119;ENST00000528014;ENST00000292079;ENST00000260287	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.18	4.18	0.49190	.	.	.	.	.	T	0.79323	0.4426	.	.	.	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.79108	0.979;0.992	T	0.79822	-0.1641	7	.	.	.	.	12.1901	0.54266	0.0:1.0:0.0:0.0	.	57;59	P54710-2;P54710	.;ATNG_HUMAN	K	57;57;59;57	ENSP00000436414:R57K;ENSP00000432430:R57K;ENSP00000292079:R59K;ENSP00000260287:R57K	.	R	-	2	0	FXYD2	117196784	0.990000	0.36364	0.875000	0.34327	0.120000	0.20174	3.775000	0.55349	2.321000	0.78463	0.655000	0.94253	AGG	C|1.000;T|0.000		0.552	FXYD2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390050.1	NM_021603	Missense_Mutation
SCN2B	6327	bcgsc.ca	37	11	118038851	118038851	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:118038851G>C	ENST00000278947.5	-	3	638	c.397C>G	c.(397-399)Cct>Gct	p.P133A		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	133	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGCGGTCAGGGGGGTTCATG	0.597																																					p.P133A		.											.	SCN2B-90	0			c.C397G						.						100.0	69.0	79.0					11																	118038851		2200	4296	6496	SO:0001583	missense	6327	exon3			GGTCAGGGGGGTT	AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.397C>G	11.37:g.118038851G>C	ENSP00000278947:p.Pro133Ala	253	4		199	127	NM_004588	0	0	0	0	0	O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286791	0.80803	.	.	ENSG00000149575	ENST00000278947	D	0.93811	-3.29	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97177	0.9848	10	0.72032	D	0.01	-21.3414	17.8498	0.88742	0.0:0.0:1.0:0.0	.	133	O60939	SCN2B_HUMAN	A	133	ENSP00000278947:P133A	ENSP00000278947:P133A	P	-	1	0	SCN2B	117544061	1.000000	0.71417	0.695000	0.30226	0.727000	0.41649	8.983000	0.93477	2.552000	0.86080	0.655000	0.94253	CCT	.		0.597	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588	
NLRX1	79671	bcgsc.ca	37	11	119052826	119052826	+	Missense_Mutation	SNP	C	C	A	rs4245191	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:119052826C>A	ENST00000409109.1	+	9	2965	c.2378C>A	c.(2377-2379)gCg>gAg	p.A793E	NLRX1_ENST00000292199.2_Missense_Mutation_p.A793E|NLRX1_ENST00000409991.1_Missense_Mutation_p.A793E|NLRX1_ENST00000525863.1_Missense_Mutation_p.A793E|NLRX1_ENST00000409265.4_Missense_Mutation_p.A793E	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	793	Required for the repression of MAVS- induced interferon signaling.		A -> E (in dbSNP:rs4245191). {ECO:0000269|PubMed:12766759, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCGCTGACGGCGGCAGGTGTT	0.632													C|||	3447	0.688299	0.708	0.4179	5008	,	,		18563	0.8839		0.5477	False		,,,				2504	0.7965				p.A793E		.											.	NLRX1-92	0			c.C2378A						.	C	GLU/ALA,GLU/ALA	2971,1429	652.9+/-399.5	1024,923,253	124.0	118.0	120.0		2378,2378	2.9	0.0	11	dbSNP_111	120	4477,4113	565.2+/-388.4	1172,2133,990	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	107,107	2196,3056,1243	AA,AC,CC		47.8813,32.4773,42.6636	benign,benign	793/976,793/922	119052826	7448,5542	2200	4295	6495	SO:0001583	missense	79671	exon9			TGACGGCGGCAGG	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2378C>A	11.37:g.119052826C>A	ENSP00000387334:p.Ala793Glu	107	0		109	5	NM_024618	0	0	0	0	0	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	1419	0.6497252747252747	349	0.709349593495935	166	0.4585635359116022	496	0.8671328671328671	408	0.5382585751978892	C	0.006	-2.091840	0.00364	0.675227	0.521187	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.78	2.91	0.33838	.	0.152719	0.40640	N	0.001049	T	0.00012	0.0000	N	0.03115	-0.41	0.54753	P	1.799999999996249E-5	B;B	0.15719	0.014;0.007	B;B	0.17979	0.02;0.006	T	0.40590	-0.9555	9	0.02654	T	1	.	6.5557	0.22460	0.1759:0.6611:0.0:0.163	rs4245191;rs17627663;rs17845376;rs17858230;rs61333211;rs4245191	793;793	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	E	793	ENSP00000386851:A793E;ENSP00000292199:A793E;ENSP00000386858:A793E;ENSP00000387334:A793E;ENSP00000433442:A793E	ENSP00000292199:A793E	A	+	2	0	NLRX1	118558036	0.979000	0.34478	0.018000	0.16275	0.003000	0.03518	2.559000	0.45888	0.628000	0.30357	0.609000	0.83330	GCG	C|0.378;A|0.622		0.632	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	
TECTA	7007	bcgsc.ca	37	11	120998820	120998820	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:120998820G>C	ENST00000392793.1	+	9	2405	c.2134G>C	c.(2134-2136)Gtg>Ctg	p.V712L	TECTA_ENST00000264037.2_Missense_Mutation_p.V712L			O75443	TECTA_HUMAN	tectorin alpha	712	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGGGAGACCGTGTGCCTGCT	0.657																																					p.V712L		.											.	TECTA-225	0			c.G2134C						.						81.0	67.0	72.0					11																	120998820		2203	4299	6502	SO:0001583	missense	7007	exon8			GAGACCGTGTGCC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2134G>C	11.37:g.120998820G>C	ENSP00000376543:p.Val712Leu	75	2		82	47	NM_005422	0	0	0	0	0		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	7.395	0.631555	0.14322	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.37058	1.22;1.22	5.67	3.68	0.42216	von Willebrand factor, type D domain (2);	0.218308	0.39615	N	0.001307	T	0.15998	0.0385	N	0.03177	-0.4	0.25190	N	0.990137	B	0.11235	0.004	B	0.08055	0.003	T	0.16305	-1.0407	10	0.23302	T	0.38	.	11.0777	0.48040	0.0:0.197:0.5817:0.2213	.	712	O75443	TECTA_HUMAN	L	712	ENSP00000376543:V712L;ENSP00000264037:V712L	ENSP00000264037:V712L	V	+	1	0	TECTA	120504030	0.778000	0.28640	0.990000	0.47175	0.300000	0.27592	0.884000	0.28214	1.394000	0.46624	0.655000	0.94253	GTG	.		0.657	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
HSPA8	3312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	122929389	122929389	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:122929389C>A	ENST00000532636.1	-	7	1592	c.1473G>T	c.(1471-1473)gtG>gtT	p.V491V	SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Silent_p.V472V|HSPA8_ENST00000533540.1_Silent_p.V345V|HSPA8_ENST00000526862.1_5'Flank|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534624.1_Silent_p.V491V|HSPA8_ENST00000534319.1_Silent_p.V255V|HSPA8_ENST00000453788.2_Intron|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000227378.3_Silent_p.V491V			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	491					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TACTCTTGTCCACAGCAGAGA	0.438																																					p.V491V	Colon(21;486 594 5900 6733 14272)	.											.	HSPA8-654	0			c.G1473T						.						148.0	143.0	145.0					11																	122929389		2202	4299	6501	SO:0001819	synonymous_variant	3312	exon7			CTTGTCCACAGCA	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1473G>T	11.37:g.122929389C>A		61	0		28	13	NM_006597	0	0	0	0	0	Q9H3R6	Silent	SNP	ENST00000532636.1	37	CCDS8440.1																																																																																			.		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1		
HSPA8	3312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	122929391	122929391	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:122929391C>A	ENST00000532636.1	-	7	1590	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.V472L|HSPA8_ENST00000533540.1_Missense_Mutation_p.V345L|HSPA8_ENST00000526862.1_5'Flank|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.V491L|HSPA8_ENST00000534319.1_Missense_Mutation_p.V255L|HSPA8_ENST00000453788.2_Intron|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.V491L			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	491					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCTTGTCCACAGCAGAGACA	0.438																																					p.V491L	Colon(21;486 594 5900 6733 14272)	.											.	HSPA8-654	0			c.G1471T						.						147.0	143.0	144.0					11																	122929391		2202	4299	6501	SO:0001583	missense	3312	exon7			TGTCCACAGCAGA	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1471G>T	11.37:g.122929391C>A	ENSP00000437125:p.Val491Leu	61	0		28	13	NM_006597	0	0	0	0	0	Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127928	0.77549	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.00976	5.48;5.48;5.48;5.48;5.48;5.48;5.48;5.48	4.45	4.45	0.53987	.	0.071903	0.52532	D	0.000065	T	0.01421	0.0046	L	0.41824	1.3	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.63310	-0.6666	10	0.46703	T	0.11	-11.8248	17.4636	0.87626	0.0:1.0:0.0:0.0	.	491;491	Q53GZ6;P11142	.;HSP7C_HUMAN	L	491;345;491;491;255;472;82;43	ENSP00000437125:V491L;ENSP00000437189:V345L;ENSP00000432083:V491L;ENSP00000227378:V491L;ENSP00000433316:V255L;ENSP00000433584:V472L;ENSP00000435908:V82L;ENSP00000435019:V43L	ENSP00000227378:V491L	V	-	1	0	HSPA8	122434601	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.791000	0.85805	2.167000	0.68274	0.561000	0.74099	GTG	.		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1		
OR10S1	219873	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	123847992	123847992	+	Missense_Mutation	SNP	C	C	A	rs199683540		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:123847992C>A	ENST00000531945.1	-	1	496	c.407G>T	c.(406-408)cGc>cTc	p.R136L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGCCAGATAGCGGTCATAGGC	0.542																																					p.R136L		.											.	OR10S1-70	0			c.G407T						.						100.0	83.0	88.0					11																	123847992		2202	4299	6501	SO:0001583	missense	219873	exon1			AGATAGCGGTCAT	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.407G>T	11.37:g.123847992C>A	ENSP00000431914:p.Arg136Leu	119	0		101	57	NM_001004474	0	0	0	0	0	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283685	0.80803	.	.	ENSG00000196248	ENST00000531945	T	0.77358	-1.09	4.74	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38720	U	0.001587	D	0.91446	0.7300	H	0.97340	3.985	0.44834	D	0.997848	D	0.89917	1.0	D	0.72075	0.976	D	0.93549	0.6885	10	0.87932	D	0	-16.9097	12.6678	0.56851	0.0:0.9191:0.0:0.0809	.	136	Q8NGN2	O10S1_HUMAN	L	136	ENSP00000431914:R136L	ENSP00000431914:R136L	R	-	2	0	OR10S1	123353202	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	7.306000	0.78905	1.253000	0.44018	0.573000	0.79308	CGC	.		0.542	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
VWA5A	4013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	124015980	124015980	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:124015980G>T	ENST00000456829.2	+	18	2442	c.2191G>T	c.(2191-2193)Gtg>Ttg	p.V731L	VWA5A_ENST00000360334.4_3'UTR|VWA5A_ENST00000392748.1_Missense_Mutation_p.V731L	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	731										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CATCCTGGCCGTGATCTGGCT	0.552																																					p.V731L		.											.	VWA5A-92	0			c.G2191T						.						122.0	113.0	116.0					11																	124015980		2201	4299	6500	SO:0001583	missense	4013	exon17			CTGGCCGTGATCT	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.2191G>T	11.37:g.124015980G>T	ENSP00000407726:p.Val731Leu	125	0		65	44	NM_014622	0	0	0	0	0	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	2.212	-0.380370	0.05000	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.14144	2.53;2.53	5.17	2.21	0.28008	.	0.284467	0.34435	N	0.003976	T	0.06416	0.0165	N	0.20357	0.565	0.29161	N	0.877773	B	0.11235	0.004	B	0.15484	0.013	T	0.41395	-0.9511	10	0.06099	T	0.92	-17.0838	6.754	0.23503	0.1648:0.1462:0.689:0.0	.	731	O00534	VMA5A_HUMAN	L	731	ENSP00000407726:V731L;ENSP00000376504:V731L	ENSP00000376504:V731L	V	+	1	0	VWA5A	123521190	0.800000	0.28916	0.005000	0.12908	0.406000	0.30931	0.887000	0.28254	0.319000	0.23209	0.655000	0.94253	GTG	.		0.552	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
OR8A1	390275	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	124440239	124440239	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:124440239C>T	ENST00000284287.3	+	1	347	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	92					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGCTACTCCTCCGTCATTACC	0.463																																					p.S92F		.											.	OR8A1-69	0			c.C275T						.						188.0	171.0	177.0					11																	124440239		2201	4299	6500	SO:0001583	missense	390275	exon1			ACTCCTCCGTCAT	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.275C>T	11.37:g.124440239C>T	ENSP00000284287:p.Ser92Phe	122	0		84	46	NM_001005194	0	0	0	0	0	Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509387	0.85282	.	.	ENSG00000196119	ENST00000284287	T	0.00408	7.54	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000384	T	0.00936	0.0031	L	0.51422	1.61	0.49483	D	0.999798	D	0.76494	0.999	D	0.73380	0.98	T	0.80132	-0.1510	10	0.72032	D	0.01	.	17.9341	0.89007	0.0:1.0:0.0:0.0	.	92	Q8NGG7	OR8A1_HUMAN	F	92	ENSP00000284287:S92F	ENSP00000284287:S92F	S	+	2	0	OR8A1	123945449	0.258000	0.24033	1.000000	0.80357	0.954000	0.61252	4.555000	0.60767	2.549000	0.85964	0.585000	0.79938	TCC	.		0.463	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194	
NTM	50863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	132204993	132204993	+	Missense_Mutation	SNP	G	G	T	rs145004908		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:132204993G>T	ENST00000374786.1	+	7	1467	c.988G>T	c.(988-990)Gtc>Ttc	p.V330F	NTM_ENST00000374791.3_Missense_Mutation_p.V330F|NTM_ENST00000539799.1_Missense_Mutation_p.V341F|NTM_ENST00000427481.2_Missense_Mutation_p.V332F|NTM_ENST00000425719.2_Missense_Mutation_p.V341F|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	330					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGCAGGCTGCGTCTGGCTGCT	0.607																																					p.V341F		.											.	NTM-95	0			c.G1021T						.						106.0	104.0	104.0					11																	132204993		2201	4297	6498	SO:0001583	missense	50863	exon8			GGCTGCGTCTGGC	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.988G>T	11.37:g.132204993G>T	ENSP00000363918:p.Val330Phe	57	0		43	27	NM_001144058	0	0	0	0	0	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	g	13.27	2.186056	0.38609	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719	T;T;T;T;T	0.61274	0.23;0.18;0.12;0.25;0.17	5.13	-8.24	0.01029	.	1.210410	0.05618	N	0.579415	T	0.38772	0.1053	N	0.08118	0	0.09310	N	1	B;B;B;P;P;P	0.48089	0.429;0.411;0.098;0.546;0.61;0.905	B;B;B;B;B;P	0.47470	0.314;0.091;0.035;0.12;0.082;0.548	T	0.57556	-0.7791	10	0.66056	D	0.02	0.2619	9.0585	0.36421	0.3515:0.1994:0.4491:0.0	.	341;332;289;341;330;330	B7Z1Z5;B7Z1I4;B7Z1H3;Q9P121-4;Q9P121;Q9P121-2	.;.;.;.;NTRI_HUMAN;.	F	330;341;332;330;341	ENSP00000363923:V330F;ENSP00000437668:V341F;ENSP00000416320:V332F;ENSP00000363918:V330F;ENSP00000396722:V341F	ENSP00000363918:V330F	V	+	1	0	NTM	131710203	0.001000	0.12720	0.022000	0.16811	0.849000	0.48306	-0.418000	0.07080	-2.145000	0.00801	-1.106000	0.02097	GTC	G|1.000;A|0.000		0.607	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	
CACNA2D4	93589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	1994182	1994182	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:1994182G>T	ENST00000382722.5	-	10	1491	c.1129C>A	c.(1129-1131)Ctg>Atg	p.L377M	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.L313M|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.L313M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.L377M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.L377M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.L293M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	377	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCTTCTCTCAGGGCTTGGTCC	0.587																																					p.L377M	Colon(2;101 179 21030 23310 28141)	.											.	CACNA2D4-23	0			c.C1129A						.						125.0	125.0	125.0					12																	1994182		1952	4138	6090	SO:0001583	missense	93589	exon10			CTCTCAGGGCTTG	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1129C>A	12.37:g.1994182G>T	ENSP00000372169:p.Leu377Met	132	0		113	73	NM_172364	0	0	0	0	0	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049454	0.55218	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.26067	1.76	5.55	3.68	0.42216	von Willebrand factor, type A (3);	0.052643	0.85682	D	0.000000	T	0.33147	0.0853	L	0.49640	1.575	0.44036	D	0.996763	P;P	0.50066	0.931;0.776	P;B	0.52793	0.709;0.364	T	0.02596	-1.1136	10	0.51188	T	0.08	.	9.461	0.38785	0.2539:0.0:0.7461:0.0	.	377;377	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	M	313;377;377	ENSP00000372169:L377M	ENSP00000280663:L377M	L	-	1	2	CACNA2D4	1864443	1.000000	0.71417	0.978000	0.43139	0.975000	0.68041	3.264000	0.51553	0.661000	0.30985	0.549000	0.68633	CTG	.		0.587	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		
FGF6	2251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	4554551	4554551	+	Silent	SNP	G	G	C	rs202212518		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:4554551G>C	ENST00000228837.2	-	1	229	c.186C>G	c.(184-186)cgC>cgG	p.R62R		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	62					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.R62R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CTAGCCCGGCGCGAGACCTGG	0.652																																					p.R62R		.											.	FGF6-659	1	Substitution - coding silent(1)	large_intestine(1)	c.C186G						.						86.0	81.0	83.0					12																	4554551		2203	4300	6503	SO:0001819	synonymous_variant	2251	exon1			CCCGGCGCGAGAC	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.186C>G	12.37:g.4554551G>C		69	0		86	52	NM_020996	0	0	0	0	0	Q0VAE1	Silent	SNP	ENST00000228837.2	37	CCDS8527.1																																																																																			G|0.999;A|0.000		0.652	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996	
GALNT8	26290	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	4829958	4829958	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:4829958G>T	ENST00000252318.2	+	1	452	c.115G>T	c.(115-117)Ggt>Tgt	p.G39C	RP11-234B24.6_ENST00000544741.2_Intron|RP11-234B24.2_ENST00000527518.1_lincRNA	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	39					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCTGTTTACGGGTGGTCTCCA	0.483																																					p.G39C	Colon(108;631 1558 7270 20097 39846)	.											.	GALNT8-230	0			c.G115T						.						105.0	106.0	105.0					12																	4829958		2203	4300	6503	SO:0001583	missense	26290	exon1			TTTACGGGTGGTC	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.115G>T	12.37:g.4829958G>T	ENSP00000252318:p.Gly39Cys	124	1		144	91	NM_017417	0	0	0	0	0	B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453220	0.43531	.	.	ENSG00000130035	ENST00000252318	T	0.58940	0.3	3.74	1.81	0.25067	.	1776.980000	0.00166	N	0.000000	T	0.54549	0.1865	L	0.48642	1.525	0.09310	N	1	P	0.52170	0.951	B	0.43990	0.438	T	0.42292	-0.9460	10	0.66056	D	0.02	.	5.1006	0.14756	0.1205:0.2135:0.6659:0.0	.	39	Q9NY28	GALT8_HUMAN	C	39	ENSP00000252318:G39C	ENSP00000252318:G39C	G	+	1	0	GALNT8	4700219	0.004000	0.15560	0.001000	0.08648	0.273000	0.26683	0.478000	0.22212	0.333000	0.23563	0.455000	0.32223	GGT	.		0.483	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417	
KCNA6	3742	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	4920365	4920365	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:4920365G>A	ENST00000280684.3	+	1	2024	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.G386G			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	386					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TCTTCATCGGGGTCATCCTCT	0.582										HNSCC(72;0.22)																											p.G386G		.											.	KCNA6-93	0			c.G1158A						.						87.0	74.0	78.0					12																	4920365		2203	4298	6501	SO:0001819	synonymous_variant	3742	exon1			CATCGGGGTCATC	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1158G>A	12.37:g.4920365G>A		275	1		267	176	NM_002235	0	0	0	0	0		Silent	SNP	ENST00000280684.3	37	CCDS8534.1																																																																																			.		0.582	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235	
KCNA5	3741	bcgsc.ca	37	12	5153809	5153809	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:5153809G>T	ENST00000252321.3	+	1	725	c.496G>T	c.(496-498)Gac>Tac	p.D166Y		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	166					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|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 membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.D166N(1)|p.D166Y(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GTACTTCTTCGACCGCAACCG	0.667																																					p.D166Y		.											.	KCNA5-715	2	Substitution - Missense(2)	large_intestine(2)	c.G496T						.						38.0	41.0	40.0					12																	5153809		2203	4300	6503	SO:0001583	missense	3741	exon1			TTCTTCGACCGCA	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.496G>T	12.37:g.5153809G>T	ENSP00000252321:p.Asp166Tyr	103	2		105	75	NM_002234	0	0	0	0	0	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620928	0.66787	.	.	ENSG00000130037	ENST00000252321	D	0.85773	-2.03	4.7	3.8	0.43715	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.95749	0.8617	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97103	0.9799	10	0.87932	D	0	.	13.9798	0.64297	0.0:0.1527:0.8473:0.0	.	166	P22460	KCNA5_HUMAN	Y	166	ENSP00000252321:D166Y	ENSP00000252321:D166Y	D	+	1	0	KCNA5	5024070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.580000	0.98207	1.182000	0.42928	0.511000	0.50034	GAC	.		0.667	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234	
ANO2	57101	broad.mit.edu;bcgsc.ca	37	12	6030236	6030236	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:6030236C>A	ENST00000356134.5	-	3	563	c.492G>T	c.(490-492)gaG>gaT	p.E164D	ANO2_ENST00000546188.1_Missense_Mutation_p.E164D|ANO2_ENST00000327087.8_Missense_Mutation_p.E164D	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	168					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCAGTCCAGCCTCCATCAGAT	0.602																																					p.E164D		.											.	ANO2-139	0			c.G492T						.						110.0	105.0	107.0					12																	6030236		2109	4224	6333	SO:0001583	missense	57101	exon3			TCCAGCCTCCATC	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.492G>T	12.37:g.6030236C>A	ENSP00000348453:p.Glu164Asp	79	2		85	62	NM_020373	0	0	0	0	0	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	C	11.06	1.527008	0.27299	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66638	-0.22;-0.22;-0.22	4.84	-5.02	0.02982	.	0.198398	0.39985	N	0.001203	T	0.41858	0.1177	L	0.31526	0.94	0.24806	N	0.992673	B	0.14438	0.01	B	0.16289	0.015	T	0.17258	-1.0375	10	0.23891	T	0.37	.	5.4179	0.16384	0.2586:0.155:0.0:0.5864	.	164	Q9NQ90-3	.	D	164;164;164;168	ENSP00000314048:E164D;ENSP00000348453:E164D;ENSP00000440981:E164D	ENSP00000314048:E164D	E	-	3	2	ANO2	5900497	0.677000	0.27577	0.824000	0.32777	0.874000	0.50279	-0.411000	0.07142	-0.621000	0.05633	-0.253000	0.11424	GAG	.		0.602	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
VWF	7450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	6078387	6078387	+	Missense_Mutation	SNP	G	G	T	rs192262780		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:6078387G>T	ENST00000261405.5	-	45	7973	c.7719C>A	c.(7717-7719)agC>agA	p.S2573R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2573					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACAGCGACAGCTTGGGCAGC	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18661	0.0		0.0	False		,,,				2504	0.0				p.S2573R		.											.	VWF-163	0			c.C7719A						.						28.0	27.0	27.0					12																	6078387		2203	4300	6503	SO:0001583	missense	7450	exon45			GCGACAGCTTGGG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7719C>A	12.37:g.6078387G>T	ENSP00000261405:p.Ser2573Arg	173	0		155	102	NM_000552	0	0	0	0	0	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.117	0.389919	0.11581	.	.	ENSG00000110799	ENST00000261405	T	0.64438	-0.1	4.87	3.98	0.46160	.	0.993499	0.08166	N	0.987750	T	0.55862	0.1947	L	0.54323	1.7	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52902	-0.8513	10	0.42905	T	0.14	.	5.8237	0.18542	0.0966:0.0:0.712:0.1913	.	2573	P04275	VWF_HUMAN	R	2573	ENSP00000261405:S2573R	ENSP00000261405:S2573R	S	-	3	2	VWF	5948648	0.994000	0.37717	0.471000	0.27229	0.009000	0.06853	0.804000	0.27098	1.279000	0.44446	0.561000	0.74099	AGC	G|0.999;T|0.000		0.562	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
VWF	7450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	6125362	6125362	+	Nonsense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:6125362G>C	ENST00000261405.5	-	31	5602	c.5348C>G	c.(5347-5349)tCa>tGa	p.S1783*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1783	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATGCATTTCTGAAGTCAAGTA	0.577																																					p.S1783X		.											.	VWF-163	0			c.C5348G						.						81.0	72.0	75.0					12																	6125362		2203	4300	6503	SO:0001587	stop_gained	7450	exon31			ATTTCTGAAGTCA		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5348C>G	12.37:g.6125362G>C	ENSP00000261405:p.Ser1783*	227	0		286	74	NM_000552	0	0	0	0	0	Q8TCE8|Q99806	Nonsense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	46	12.738036	0.99692	.	.	ENSG00000110799	ENST00000261405	.	.	.	4.58	4.58	0.56647	.	0.000000	0.36740	N	0.002439	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1379	0.81502	0.0:0.0:1.0:0.0	.	.	.	.	X	1783	.	ENSP00000261405:S1783X	S	-	2	0	VWF	5995623	1.000000	0.71417	0.289000	0.24876	0.682000	0.39822	7.091000	0.76923	2.374000	0.81015	0.555000	0.69702	TCA	.		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
LAG3	3902	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	6883823	6883823	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:6883823A>T	ENST00000203629.2	+	4	907	c.574A>T	c.(574-576)Agc>Tgc	p.S192C	LAG3_ENST00000441671.2_Missense_Mutation_p.S192C	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	192	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTGCTCCTTCAGCCGCCCTGA	0.607																																					p.S192C		.											.	LAG3-90	0			c.A574T						.						49.0	49.0	49.0					12																	6883823		2203	4300	6503	SO:0001583	missense	3902	exon4			TCCTTCAGCCGCC		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.574A>T	12.37:g.6883823A>T	ENSP00000203629:p.Ser192Cys	89	1		104	66	NM_002286	0	0	0	0	0	A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	37	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771696	0.49680	.	.	ENSG00000089692	ENST00000441671;ENST00000203629	T;T	0.13901	2.55;2.55	4.53	2.09	0.27110	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.082591	0.52532	D	0.000075	T	0.26666	0.0652	M	0.62723	1.935	0.32470	N	0.542911	D;D	0.76494	0.999;0.997	D;D	0.67900	0.954;0.923	T	0.24870	-1.0148	10	0.72032	D	0.01	-7.8302	6.1464	0.20289	0.7862:0.0:0.2138:0.0	.	192;192	P18627;Q7Z643	LAG3_HUMAN;.	C	192	ENSP00000413825:S192C;ENSP00000203629:S192C	ENSP00000203629:S192C	S	+	1	0	LAG3	6754084	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	1.960000	0.40422	0.778000	0.33520	0.260000	0.18958	AGC	.		0.607	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1		
CD163L1	283316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	7528358	7528358	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:7528358G>A	ENST00000313599.3	-	10	2681	c.2624C>T	c.(2623-2625)cCc>cTc	p.P875L	CD163L1_ENST00000396630.1_Missense_Mutation_p.P875L|CD163L1_ENST00000416109.2_Missense_Mutation_p.P885L|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	875	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGAACAATGGGGCATAATGC	0.438																																					p.P875L		.											.	CD163L1-100	0			c.C2624T						.						133.0	117.0	122.0					12																	7528358		2203	4300	6503	SO:0001583	missense	283316	exon10			ACAATGGGGCATA	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2624C>T	12.37:g.7528358G>A	ENSP00000315945:p.Pro875Leu	126	0		135	95	NM_174941	0	0	0	0	0	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555298	0.45487	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35605	1.3;1.3;1.3	2.84	2.84	0.33178	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.598443	0.14704	N	0.303363	T	0.55000	0.1893	M	0.70108	2.13	0.09310	N	0.999997	D;D	0.89917	0.999;1.0	D;D	0.77557	0.984;0.99	T	0.34875	-0.9811	10	0.59425	D	0.04	.	9.2243	0.37395	0.0:0.0:1.0:0.0	.	885;875	E7EVK4;Q9NR16	.;C163B_HUMAN	L	875;885;875	ENSP00000315945:P875L;ENSP00000393474:P885L;ENSP00000379871:P875L	ENSP00000315945:P875L	P	-	2	0	CD163L1	7419625	0.146000	0.22672	0.002000	0.10522	0.116000	0.19942	1.909000	0.39917	1.580000	0.49851	0.455000	0.32223	CCC	.		0.438	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
C3AR1	719	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	8212382	8212382	+	Missense_Mutation	SNP	G	G	C	rs61736561		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:8212382G>C	ENST00000307637.4	-	2	603	c.400C>G	c.(400-402)Cgc>Ggc	p.R134G		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	134					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CCTACATTGCGATGATTCTGA	0.478																																					p.R134G		.											.	C3AR1-227	0			c.C400G						.						227.0	182.0	197.0					12																	8212382		2203	4300	6503	SO:0001583	missense	719	exon2			CATTGCGATGATT	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.400C>G	12.37:g.8212382G>C	ENSP00000302079:p.Arg134Gly	151	0		122	76	NM_004054	0	0	0	0	0	O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573785	0.65765	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	T;T	0.39406	1.08;1.08	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.73575	0.3604	M	0.92555	3.32	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.79931	-0.1595	10	0.87932	D	0	.	17.4698	0.87642	0.0:0.0:1.0:0.0	.	134	Q16581	C3AR_HUMAN	G	134	ENSP00000302079:R134G;ENSP00000444500:R134G	ENSP00000302079:R134G	R	-	1	0	C3AR1	8103649	1.000000	0.71417	0.998000	0.56505	0.658000	0.38924	3.129000	0.50500	2.713000	0.92767	0.655000	0.94253	CGC	G|0.986;A|0.014		0.478	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1		
MFAP5	8076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	8813475	8813475	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:8813475G>T	ENST00000359478.2	-	3	265	c.78C>A	c.(76-78)gtC>gtA	p.V26V	MFAP5_ENST00000396549.2_Silent_p.V26V|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000540087.1_Silent_p.V26V|MFAP5_ENST00000535336.1_Silent_p.V26V|MFAP5_ENST00000433590.2_Silent_p.V26V|MFAP5_ENST00000538107.1_5'UTR	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	26					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GTTGACTATTGACCCCCAGGG	0.428																																					p.V26V		.											.	MFAP5-577	0			c.C78A						.						86.0	87.0	87.0					12																	8813475		2203	4300	6503	SO:0001819	synonymous_variant	8076	exon3			ACTATTGACCCCC	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.78C>A	12.37:g.8813475G>T		77	0		58	35	NM_003480	0	0	0	0	0	B0AZL6|D3DUV1|Q7Z490	Silent	SNP	ENST00000359478.2	37	CCDS8595.1	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.261482	0.01445	.	.	ENSG00000197614	ENST00000535411	.	.	.	4.81	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.24660	N	0.993478	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.2805	9.0533	0.36389	0.1003:0.0:0.8997:0.0	.	.	.	.	X	16	.	.	S	-	2	0	MFAP5	8704742	0.276000	0.24211	0.042000	0.18584	0.018000	0.09664	1.196000	0.32198	1.378000	0.46305	0.655000	0.94253	TCA	.		0.428	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480	
PZP	5858	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	9334698	9334698	+	Missense_Mutation	SNP	G	G	T	rs188078627		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:9334698G>T	ENST00000261336.2	-	14	1590	c.1562C>A	c.(1561-1563)gCc>gAc	p.A521D	PZP_ENST00000381997.2_Missense_Mutation_p.A390D	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	521					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAAGGATAAGGCAAAACTGCC	0.413																																					p.A521D	Melanoma(125;1402 1695 4685 34487 38571)	.											.	PZP-157	0			c.C1562A						.						61.0	53.0	56.0					12																	9334698		2203	4300	6503	SO:0001583	missense	5858	exon14			GATAAGGCAAAAC	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1562C>A	12.37:g.9334698G>T	ENSP00000261336:p.Ala521Asp	104	1		118	75	NM_002864	0	0	0	0	0	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	9.428	1.084714	0.20309	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.62941	-0.01;-0.01	3.93	0.94	0.19513	Alpha-2-macroglobulin, N-terminal 2 (1);	1.272750	0.05452	N	0.549605	T	0.61388	0.2343	L	0.50333	1.59	0.09310	N	1	P;B	0.45768	0.866;0.0	P;B	0.48598	0.583;0.003	T	0.47711	-0.9096	10	0.54805	T	0.06	.	3.6223	0.08100	0.2213:0.0:0.5845:0.1942	.	390;521	P20742-2;P20742	.;PZP_HUMAN	D	521;390	ENSP00000261336:A521D;ENSP00000371427:A390D	ENSP00000261336:A521D	A	-	2	0	PZP	9225965	0.093000	0.21703	0.001000	0.08648	0.290000	0.27261	0.591000	0.23969	-0.025000	0.13918	-0.378000	0.06908	GCC	G|0.999;A|0.001		0.413	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
PZP	5858	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	9353011	9353011	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:9353011G>T	ENST00000261336.2	-	7	732	c.704C>A	c.(703-705)cCa>cAa	p.P235Q	PZP_ENST00000381997.2_Missense_Mutation_p.P104Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	235					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATTATCTTTGGCACCTGAAC	0.313																																					p.P235Q	Melanoma(125;1402 1695 4685 34487 38571)	.											.	PZP-157	0			c.C704A						.						127.0	112.0	117.0					12																	9353011		2203	4298	6501	SO:0001583	missense	5858	exon7			ATCTTTGGCACCT	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.704C>A	12.37:g.9353011G>T	ENSP00000261336:p.Pro235Gln	69	1		60	36	NM_002864	0	0	0	0	0	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063717	0.55432	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.44083	1.15;0.93	3.37	3.37	0.38596	.	0.226724	0.29684	U	0.011473	T	0.66557	0.2801	M	0.88450	2.955	0.25277	N	0.989464	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.913	T	0.59172	-0.7504	10	0.62326	D	0.03	.	10.9328	0.47228	0.0:0.0:1.0:0.0	.	104;235	P20742-2;P20742	.;PZP_HUMAN	Q	235;104	ENSP00000261336:P235Q;ENSP00000371427:P104Q	ENSP00000261336:P235Q	P	-	2	0	PZP	9244278	0.999000	0.42202	0.974000	0.42286	0.216000	0.24613	5.093000	0.64517	1.847000	0.53656	0.305000	0.20034	CCA	.		0.313	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
STYK1	55359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	10782211	10782211	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:10782211C>A	ENST00000075503.3	-	6	1034	c.514G>T	c.(514-516)Ggg>Tgg	p.G172W		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TTGTGTTTCCCCAGGTATTGA	0.522										HNSCC(73;0.22)																											p.G172W		.											.	STYK1-1379	0			c.G514T						.						71.0	69.0	70.0					12																	10782211		2203	4300	6503	SO:0001583	missense	55359	exon6			GTTTCCCCAGGTA	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.514G>T	12.37:g.10782211C>A	ENSP00000075503:p.Gly172Trp	91	0		64	33	NM_018423	0	0	0	0	0	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	CCDS8629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.950604|3.950604	0.73787|0.73787	.|.	.|.	ENSG00000060140|ENSG00000060140	ENST00000075503|ENST00000542924	T|.	0.70631|.	-0.5|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87087|0.87087	0.6090|0.6090	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90109|0.90109	0.4190|0.4190	10|5	0.87932|.	D|.	0|.	-19.3764|-19.3764	17.4122|17.4122	0.87489|0.87489	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	172|.	Q6J9G0|.	STYK1_HUMAN|.	W|C	172|9	ENSP00000075503:G172W|.	ENSP00000075503:G172W|.	G|W	-|-	1|3	0|0	STYK1|STYK1	10673478|10673478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.835000|0.835000	0.47333|0.47333	5.019000|5.019000	0.64060|0.64060	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GGG|TGG	.		0.522	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423	
ATF7IP	55729	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	14578095	14578095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:14578095G>T	ENST00000540793.1	+	1	1401	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.E416*|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.E416*|ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.E424*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.E416*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	416	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AAATGTTATTGAAGATAACAA	0.333																																					p.E416X		.											.	ATF7IP-252	0			c.G1246T						.						54.0	57.0	56.0					12																	14578095		2203	4299	6502	SO:0001587	stop_gained	55729	exon2			GTTATTGAAGATA	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1246G>T	12.37:g.14578095G>T	ENSP00000444589:p.Glu416*	54	1		31	19	NM_018179	0	0	0	0	0	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Nonsense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935949	0.34189	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	.	.	.	4.27	-2.99	0.05497	.	0.696409	0.13119	N	0.412353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-0.8324	4.7607	0.13106	0.1868:0.131:0.5529:0.1293	.	.	.	.	X	416;416;416;424;416;416	.	ENSP00000261168:E416X	E	+	1	0	ATF7IP	14469362	0.002000	0.14202	0.000000	0.03702	0.032000	0.12392	-0.190000	0.09615	-0.538000	0.06281	-0.469000	0.05056	GAA	.		0.333	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
PDE3A	5139	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	20523173	20523173	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:20523173G>T	ENST00000359062.3	+	1	995	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	319					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TATACCGAGGGAACAGGTAAG	0.592																																					p.E319X		.											.	PDE3A-94	0			c.G955T						.						25.0	24.0	25.0					12																	20523173		2201	4299	6500	SO:0001587	stop_gained	5139	exon1			CCGAGGGAACAGG		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.955G>T	12.37:g.20523173G>T	ENSP00000351957:p.Glu319*	53	0		37	25	NM_000921	0	0	0	0	0	O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	40	7.936368	0.98571	.	.	ENSG00000172572	ENST00000359062	.	.	.	4.58	4.58	0.56647	.	2.424340	0.01183	N	0.007124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.5461	0.87861	0.0:0.0:1.0:0.0	.	.	.	.	X	319	.	ENSP00000351957:E319X	E	+	1	0	PDE3A	20414440	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	8.751000	0.91628	2.529000	0.85273	0.650000	0.86243	GAA	.		0.592	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		
SLCO1C1	53919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	20886031	20886031	+	Missense_Mutation	SNP	T	T	A	rs544314255		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:20886031T>A	ENST00000266509.2	+	10	1743	c.1375T>A	c.(1375-1377)Tac>Aac	p.Y459N	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.Y459N|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.Y459N|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.Y341N|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.Y410N	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	459					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AACTGTCTCCTACCAAGGGTA	0.363																																					p.Y459N		.											.	SLCO1C1-97	0			c.T1375A						.						153.0	138.0	143.0					12																	20886031		2203	4300	6503	SO:0001583	missense	53919	exon10			GTCTCCTACCAAG	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1375T>A	12.37:g.20886031T>A	ENSP00000266509:p.Tyr459Asn	51	0		49	30	NM_017435	0	0	0	0	0	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303040	0.81136	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.122107	0.64402	D	0.000019	T	0.73737	0.3625	H	0.94734	3.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.999	T	0.82275	-0.0538	10	0.87932	D	0	.	15.0568	0.71921	0.0:0.0:0.0:1.0	.	341;410;459;459	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	N	459;410;459;459;341	ENSP00000444149:Y459N;ENSP00000438665:Y410N;ENSP00000266509:Y459N;ENSP00000370964:Y459N;ENSP00000444527:Y341N	ENSP00000266509:Y459N	Y	+	1	0	SLCO1C1	20777298	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.495000	0.81514	2.134000	0.65973	0.482000	0.46254	TAC	.		0.363	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	
SOX5	6660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	23893815	23893815	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:23893815G>T	ENST00000451604.2	-	5	828	c.727C>A	c.(727-729)Cag>Aag	p.Q243K	SOX5_ENST00000309359.1_Missense_Mutation_p.Q230K|SOX5_ENST00000541847.1_Missense_Mutation_p.Q233K|SOX5_ENST00000545921.1_Missense_Mutation_p.Q233K|SOX5_ENST00000381381.2_Missense_Mutation_p.Q230K|SOX5_ENST00000546136.1_Missense_Mutation_p.Q230K|SOX5_ENST00000537393.1_Missense_Mutation_p.Q208K|SOX5_ENST00000541536.1_Missense_Mutation_p.Q230K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	243					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCTTGTTGCTGCTTGGCCAGC	0.493																																					p.Q243K		.											.	SOX5-655	0			c.C727A						.						140.0	127.0	131.0					12																	23893815		2203	4300	6503	SO:0001583	missense	6660	exon5			GTTGCTGCTTGGC	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.727C>A	12.37:g.23893815G>T	ENSP00000398273:p.Gln243Lys	74	0		50	33	NM_006940	0	0	0	0	0	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380920	0.95945	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847	D;D;D;D;D;D;D	0.97688	-4.43;-4.43;-4.49;-4.43;-4.44;-4.49;-4.43	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	M	0.84948	2.725	0.80722	D	1	D;P;D	0.71674	0.997;0.811;0.998	D;P;D	0.66196	0.942;0.828;0.93	D	0.99470	1.0945	10	0.72032	D	0.01	.	20.0503	0.97624	0.0:0.0:1.0:0.0	.	208;230;243	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	K	230;230;230;243;195;208;230;233;233	ENSP00000437487:Q230K;ENSP00000308927:Q230K;ENSP00000370788:Q230K;ENSP00000398273:Q243K;ENSP00000439832:Q208K;ENSP00000441973:Q230K;ENSP00000443520:Q233K	ENSP00000308927:Q230K	Q	-	1	0	SOX5	23785082	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.458000	0.97634	2.736000	0.93811	0.591000	0.81541	CAG	.		0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
MANSC4	100287284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	27915672	27915672	+	Nonstop_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:27915672T>A	ENST00000381273.3	-	3	1021	c.1022A>T	c.(1021-1023)tAg>tTg	p.*341L		NM_001146221.1	NP_001139693.1	A6NHS7	MANS4_HUMAN	MANSC domain containing 4	0						integral component of membrane (GO:0016021)				kidney(1)	1						CAGTTTTTACTATGAAGAGTT	0.373																																					p.X341L		.											.	.	0			c.A1022T						.						135.0	103.0	113.0					12																	27915672		692	1591	2283	SO:0001578	stop_lost	100287284	exon3			TTTTACTATGAAG		CCDS53770.1	12p11.22	2011-05-05			ENSG00000205693	ENSG00000205693			40023	protein-coding gene	gene with protein product							Standard	NM_001146221		Approved		uc010sjs.1	A6NHS7	OTTHUMG00000169216	ENST00000381273.3:c.1022A>T	12.37:g.27915672T>A		43	0		60	33	NM_001146221	0	0	0	0	0		Missense_Mutation	SNP	ENST00000381273.3	37	CCDS53770.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370246	0.24771	.	.	ENSG00000205693	ENST00000381273	.	.	.	3.17	0.275	0.15659	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3398	0.04257	0.2349:0.1586:0.0:0.6065	.	.	.	.	L	341	.	.	X	-	2	0	MANSC4	27806939	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.013000	0.12678	-0.049000	0.13379	0.383000	0.25322	TAG	.		0.373	MANSC4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000402902.1		
CCDC91	55297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	28605587	28605587	+	Splice_Site	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:28605587G>C	ENST00000545336.1	+	14	1520	c.1101G>C	c.(1099-1101)caG>caC	p.Q367H	CCDC91_ENST00000381259.1_Splice_Site_p.Q367H|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Splice_Site_p.Q331H|CCDC91_ENST00000306172.5_Splice_Site_p.Q337H|CCDC91_ENST00000381256.1_Splice_Site_p.Q331H			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	367	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AAATAAGTCAGGTTAGTAATA	0.279																																					p.Q367H		.											.	CCDC91-90	0			c.G1101C						.						35.0	38.0	37.0					12																	28605587		2193	4283	6476	SO:0001630	splice_region_variant	55297	exon10			AAGTCAGGTTAGT	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1101+1G>C	12.37:g.28605587G>C		53	0		35	14	NM_018318	0	0	0	0	0	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	CCDS8716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.66|17.66	3.444674|3.444674	0.63178|0.63178	.|.	.|.	ENSG00000123106|ENSG00000123106	ENST00000536154;ENST00000539107;ENST00000545336;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212|ENST00000542801	T;T;T;T;T;T;T|.	0.50277|.	1.3;0.94;1.31;1.31;0.94;1.29;0.75|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.106387|.	0.42172|.	D|.	0.000745|.	T|T	0.43743|0.43743	0.1261|0.1261	N|N	0.19112|0.19112	0.55|0.55	0.34264|0.34264	D|D	0.680283|0.680283	D;D;D|.	0.69078|.	0.997;0.997;0.997|.	P;D;D|.	0.70935|.	0.899;0.971;0.971|.	T|T	0.53005|0.53005	-0.8499|-0.8499	10|5	0.87932|.	D|.	0|.	-10.1531|-10.1531	12.205|12.205	0.54346|0.54346	0.0818:0.0:0.9182:0.0|0.0818:0.0:0.9182:0.0	.|.	331;367;337|.	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2|.	.;CCD91_HUMAN;.|.	H|T	107;331;367;367;331;337;66|38	ENSP00000444440:Q107H;ENSP00000440513:Q331H;ENSP00000438040:Q367H;ENSP00000370658:Q367H;ENSP00000370655:Q331H;ENSP00000305075:Q337H;ENSP00000445999:Q66H|.	ENSP00000305075:Q337H|.	Q|R	+|+	3|2	2|0	CCDC91|CCDC91	28496854|28496854	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.253000|2.253000	0.43205|0.43205	2.697000|2.697000	0.92050|0.92050	0.585000|0.585000	0.79938|0.79938	CAG|AGG	.		0.279	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Missense_Mutation
OVCH1	341350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	29598275	29598275	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:29598275C>A	ENST00000318184.5	-	23	2816	c.2817G>T	c.(2815-2817)agG>agT	p.R939S	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	939	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGAATGTCACCCTCACCAGCG	0.373																																					p.R939S		.											.	OVCH1-210	0			c.G2817T						.						94.0	92.0	92.0					12																	29598275		1869	4110	5979	SO:0001583	missense	341350	exon23			TGTCACCCTCACC	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2817G>T	12.37:g.29598275C>A	ENSP00000326708:p.Arg939Ser	64	0		52	34	NM_183378	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	0.107	-1.143487	0.01728	.	.	ENSG00000187950	ENST00000318184	T	0.34667	1.35	2.44	0.557	0.17260	CUB (5);	.	.	.	.	T	0.35913	0.0948	N	0.24115	0.695	0.09310	N	1	D	0.59767	0.986	D	0.64042	0.921	T	0.15607	-1.0431	9	0.38643	T	0.18	.	4.8424	0.13496	0.0:0.6895:0.0:0.3105	.	939	Q7RTY7	OVCH1_HUMAN	S	939	ENSP00000326708:R939S	ENSP00000326708:R939S	R	-	3	2	OVCH1	29489542	0.365000	0.25006	0.019000	0.16419	0.095000	0.18619	-0.001000	0.12947	0.149000	0.19098	0.655000	0.94253	AGG	.		0.373	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
OVCH1	341350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	29607850	29607850	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:29607850C>A	ENST00000318184.5	-	21	2453	c.2454G>T	c.(2452-2454)caG>caT	p.Q818H	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	818						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TATTATTTGTCTGAAGTGAAG	0.383																																					p.Q818H		.											.	OVCH1-210	0			c.G2454T						.						121.0	115.0	116.0					12																	29607850		1864	4094	5958	SO:0001583	missense	341350	exon21			ATTTGTCTGAAGT	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2454G>T	12.37:g.29607850C>A	ENSP00000326708:p.Gln818His	83	0		60	36	NM_183378	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	12.86	2.063895	0.36373	.	.	ENSG00000187950	ENST00000318184	D	0.86627	-2.15	3.28	1.36	0.22044	.	.	.	.	.	T	0.70456	0.3226	N	0.14661	0.345	0.09310	N	1	B	0.33904	0.431	B	0.21546	0.035	T	0.62291	-0.6885	9	0.66056	D	0.02	.	3.8599	0.08991	0.2364:0.6348:0.0:0.1288	.	818	Q7RTY7	OVCH1_HUMAN	H	818	ENSP00000326708:Q818H	ENSP00000326708:Q818H	Q	-	3	2	OVCH1	29499117	0.001000	0.12720	0.019000	0.16419	0.338000	0.28826	-0.079000	0.11357	0.369000	0.24510	0.655000	0.94253	CAG	.		0.383	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
OVCH1	341350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	29628092	29628092	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:29628092G>T	ENST00000318184.5	-	14	1501	c.1502C>A	c.(1501-1503)tCa>tAa	p.S501*	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	501	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTGAATATTGAAGTGATGGT	0.303																																					p.S501X		.											.	OVCH1-210	0			c.C1502A						.						38.0	34.0	36.0					12																	29628092		1810	4079	5889	SO:0001587	stop_gained	341350	exon14			AATATTGAAGTGA	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1502C>A	12.37:g.29628092G>T	ENSP00000326708:p.Ser501*	151	0		103	70	NM_183378	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	G	19.06	3.754217	0.69648	.	.	ENSG00000187950	ENST00000318184	.	.	.	2.59	0.678	0.17969	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	6.4829	0.22073	0.1136:0.1856:0.7008:0.0	.	.	.	.	X	501	.	ENSP00000326708:S501X	S	-	2	0	OVCH1	29519359	0.001000	0.12720	0.000000	0.03702	0.174000	0.22865	0.871000	0.28023	0.167000	0.19631	0.467000	0.42956	TCA	.		0.303	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
TMTC1	83857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	29908758	29908758	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:29908758C>A	ENST00000539277.1	-	4	673	c.615G>T	c.(613-615)ttG>ttT	p.L205F	TMTC1_ENST00000551659.1_Missense_Mutation_p.L205F|TMTC1_ENST00000381224.2_Missense_Mutation_p.L97F|TMTC1_ENST00000256062.5_Missense_Mutation_p.L97F|TMTC1_ENST00000552618.1_Missense_Mutation_p.L205F	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	205						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AACTGAGCAGCAAGAAGAAGG	0.473																																					p.L205F		.											.	TMTC1-90	0			c.G615T						.						98.0	90.0	93.0					12																	29908758		2203	4300	6503	SO:0001583	missense	83857	exon4			GAGCAGCAAGAAG		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.615G>T	12.37:g.29908758C>A	ENSP00000442046:p.Leu205Phe	95	0		82	47	NM_001193451	0	0	0	0	0	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786878	0.70337	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.71698	-0.56;-0.33;-0.59;-0.46;1.27	5.45	4.54	0.55810	.	0.000000	0.64402	D	0.000003	T	0.80470	0.4629	L	0.59967	1.855	0.42623	D	0.993351	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.961	T	0.80276	-0.1450	9	.	.	.	-14.4501	13.4756	0.61306	0.0:0.7004:0.2996:0.0	.	97;205	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	F	97;205;205;205;97	ENSP00000256062:L97F;ENSP00000448112:L205F;ENSP00000449043:L205F;ENSP00000442046:L205F;ENSP00000370622:L97F	.	L	-	3	2	TMTC1	29800025	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	2.540000	0.45727	1.257000	0.44085	0.563000	0.77884	TTG	.		0.473	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
KIAA1551	55196	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	32134534	32134534	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:32134534A>T	ENST00000312561.4	+	4	1059	c.645A>T	c.(643-645)ccA>ccT	p.P215P	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	215																	GACCACCTCCAAAGCTATACC	0.383																																					p.P215P		.											.	.	0			c.A645T						.						71.0	69.0	70.0					12																	32134534		2203	4300	6503	SO:0001819	synonymous_variant	55196	exon4			ACCTCCAAAGCTA	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.645A>T	12.37:g.32134534A>T		101	1		95	68	NM_018169	0	0	0	0	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																			.		0.383	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
KIAA1551	55196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	32136907	32136907	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:32136907A>T	ENST00000312561.4	+	4	3432	c.3018A>T	c.(3016-3018)acA>acT	p.T1006T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1006																	AAAAAAGCACAGCTAACGATA	0.418																																					p.T1006T		.											.	.	0			c.A3018T						.						52.0	51.0	51.0					12																	32136907		2203	4299	6502	SO:0001819	synonymous_variant	55196	exon4			AAGCACAGCTAAC	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3018A>T	12.37:g.32136907A>T		53	0		54	36	NM_018169	0	0	0	0	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																			.		0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
KIF21A	55605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	39695356	39695356	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:39695356C>A	ENST00000361418.5	-	37	4872	c.4857G>T	c.(4855-4857)gtG>gtT	p.V1619V	KIF21A_ENST00000395670.3_Silent_p.V1620V|KIF21A_ENST00000541463.2_Silent_p.V1566V|KIF21A_ENST00000544797.2_Silent_p.V1582V|KIF21A_ENST00000361961.3_Silent_p.V1606V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1619					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1606V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCATCTCTCCCACTGGCATAA	0.458																																					p.V1619V		.											.	KIF21A-97	1	Substitution - coding silent(1)	lung(1)	c.G4857T						.						156.0	159.0	158.0					12																	39695356		2203	4300	6503	SO:0001819	synonymous_variant	55605	exon37			CTCTCCCACTGGC	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4857G>T	12.37:g.39695356C>A		179	0		171	126	NM_001173464	0	0	0	0	0	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	5.785	0.329200	0.10956	.	.	ENSG00000139116	ENST00000552961	.	.	.	4.71	-9.42	0.00610	.	.	.	.	.	T	0.36220	0.0959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43540	-0.9385	4	.	.	.	.	3.8422	0.08918	0.266:0.2837:0.3582:0.092	.	.	.	.	L	920	.	.	W	-	2	0	KIF21A	37981623	0.000000	0.05858	0.004000	0.12327	0.991000	0.79684	-1.892000	0.01610	-2.736000	0.00381	-0.272000	0.10252	TGG	.		0.458	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
CNTN1	1272	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	41463834	41463834	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:41463834C>A	ENST00000551295.2	+	24	3171	c.3054C>A	c.(3052-3054)ttC>ttA	p.F1018L	CNTN1_ENST00000347616.1_Missense_Mutation_p.F1018L|CNTN1_ENST00000348761.2_Missense_Mutation_p.F1007L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1018					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)	p.F1018F(1)		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)				ACTTGGAATTCTGAATGTGTT	0.507																																					p.F1018L		.											.	CNTN1-1149	1	Substitution - coding silent(1)	lung(1)	c.C3054A						.						179.0	136.0	150.0					12																	41463834		2203	4300	6503	SO:0001583	missense	1272	exon24			GGAATTCTGAATG	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.3054C>A	12.37:g.41463834C>A	ENSP00000447006:p.Phe1018Leu	85	0		72	49	NM_001843	0	0	0	0	0	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693204	0.48202	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.57595	0.4;0.4;0.39	5.67	4.78	0.61160	.	0.115808	0.64402	D	0.000014	T	0.49847	0.1581	N	0.08118	0	0.80722	D	1	D;P	0.56035	0.974;0.956	D;P	0.67725	0.953;0.899	T	0.56202	-0.8018	10	0.49607	T	0.09	.	11.0895	0.48108	0.0:0.8581:0.0:0.1419	.	1007;1018	Q12860-2;Q12860	.;CNTN1_HUMAN	L	1018;1018;1007	ENSP00000447006:F1018L;ENSP00000325660:F1018L;ENSP00000261160:F1007L	ENSP00000325660:F1018L	F	+	3	2	CNTN1	39750101	0.999000	0.42202	1.000000	0.80357	0.913000	0.54294	0.462000	0.21956	1.551000	0.49450	-0.140000	0.14226	TTC	.		0.507	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
ADAMTS20	80070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	43821221	43821221	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:43821221C>A	ENST00000389420.3	-	27	3996	c.3997G>T	c.(3997-3999)Gat>Tat	p.D1333Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D1333Y|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.D451Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1333	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCATTTTCATCCTGGCAGACC	0.483																																					p.D1333Y		.											.	ADAMTS20-795	0			c.G3997T						.						115.0	85.0	95.0					12																	43821221		2203	4300	6503	SO:0001583	missense	80070	exon27			TTTCATCCTGGCA	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3997G>T	12.37:g.43821221C>A	ENSP00000374071:p.Asp1333Tyr	102	0		94	56	NM_025003	0	0	0	0	0	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510129	0.85282	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61040	0.14;0.62;0.62;0.14	4.94	4.94	0.65067	.	0.110659	0.39210	N	0.001440	T	0.79695	0.4490	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.83031	-0.0162	10	0.87932	D	0	.	19.0406	0.92997	0.0:1.0:0.0:0.0	.	1333;451	P59510;E9PBD5	ATS20_HUMAN;.	Y	1333;463;451;1333;1333	ENSP00000374071:D1333Y;ENSP00000447427:D463Y;ENSP00000378911:D451Y;ENSP00000448341:D1333Y	ENSP00000374068:D1333Y	D	-	1	0	ADAMTS20	42107488	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.678000	0.68153	2.670000	0.90874	0.650000	0.86243	GAT	.		0.483	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
PUS7L	83448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	44142372	44142372	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:44142372C>A	ENST00000416848.2	-	3	1439	c.951G>T	c.(949-951)gcG>gcT	p.A317A	PUS7L_ENST00000431332.3_Silent_p.A4A|PUS7L_ENST00000553166.1_Silent_p.A317A|PUS7L_ENST00000551923.1_Silent_p.A317A|PUS7L_ENST00000344862.5_Silent_p.A317A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	317					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AAAAACCAATCGCTTCAAACA	0.348																																					p.A317A		.											.	PUS7L-91	0			c.G951T						.						94.0	92.0	93.0					12																	44142372		2202	4300	6502	SO:0001819	synonymous_variant	83448	exon3			ACCAATCGCTTCA	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.951G>T	12.37:g.44142372C>A		40	0		38	26	NM_001098614	0	0	0	0	0	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	CCDS8743.1																																																																																			.		0.348	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292	
TWF1	5756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	44190794	44190794	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:44190794C>A	ENST00000395510.2	-	8	996	c.867G>T	c.(865-867)atG>atT	p.M289I	TWF1_ENST00000325127.4_Missense_Mutation_p.M323I|TWF1_ENST00000548315.1_Missense_Mutation_p.M296I|TWF1_ENST00000552521.1_Missense_Mutation_p.M191I	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	289	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.M289I(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TAATTACATCCATTTGTAGTT	0.333																																					p.M296I		.											.	TWF1-797	1	Substitution - Missense(1)	large_intestine(1)	c.G888T						.						81.0	85.0	84.0					12																	44190794		2203	4299	6502	SO:0001583	missense	5756	exon9			TACATCCATTTGT	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.867G>T	12.37:g.44190794C>A	ENSP00000378886:p.Met289Ile	91	0		58	41	NM_001242397	0	0	0	0	0	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	C	5.837	0.338626	0.11069	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315	T;T;T;T	0.25749	1.78;2.54;2.53;2.53	5.55	5.55	0.83447	Actin-binding, cofilin/tropomyosin type (2);	0.118606	0.85682	D	0.000000	T	0.11410	0.0278	N	0.02181	-0.65	0.50039	D	0.999846	B;B	0.06786	0.001;0.0	B;B	0.17433	0.01;0.018	T	0.19321	-1.0309	10	0.06757	T	0.87	-29.9587	19.5094	0.95135	0.0:1.0:0.0:0.0	.	296;289	Q12792-3;Q12792	.;TWF1_HUMAN	I	191;289;323;296	ENSP00000448750:M191I;ENSP00000378886:M289I;ENSP00000321058:M323I;ENSP00000449428:M296I	ENSP00000321058:M323I	M	-	3	0	TWF1	42477061	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.898000	0.39809	2.620000	0.88729	0.591000	0.81541	ATG	.		0.333	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822	
DBX2	440097	broad.mit.edu;bcgsc.ca	37	12	45444412	45444412	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:45444412C>G	ENST00000332700.6	-	1	470	c.299G>C	c.(298-300)gGa>gCa	p.G100A	RP11-478B9.1_ENST00000548424.1_RNA	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	100					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CCACCGCGTTCCGTAGGGCGC	0.706																																					p.G100A		.											.	DBX2-90	0			c.G299C						.						6.0	7.0	7.0					12																	45444412		2038	4042	6080	SO:0001583	missense	440097	exon1			CGCGTTCCGTAGG		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.299G>C	12.37:g.45444412C>G	ENSP00000331470:p.Gly100Ala	103	1		158	70	NM_001004329	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332700.6	37	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	C	6.106	0.387909	0.11581	.	.	ENSG00000185610	ENST00000332700	D	0.91068	-2.78	3.12	3.12	0.35913	.	0.306342	0.23391	N	0.048682	T	0.81356	0.4805	L	0.27053	0.805	0.09310	N	1	B	0.21520	0.057	B	0.17098	0.017	T	0.64071	-0.6493	10	0.13470	T	0.59	-7.8256	9.9197	0.41457	0.0:1.0:0.0:0.0	.	100	Q6ZNG2	DBX2_HUMAN	A	100	ENSP00000331470:G100A	ENSP00000331470:G100A	G	-	2	0	DBX2	43730679	0.420000	0.25457	0.193000	0.23327	0.806000	0.45545	1.442000	0.35046	1.746000	0.51805	0.558000	0.71614	GGA	.		0.706	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329	
ANO6	196527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	45742042	45742042	+	Missense_Mutation	SNP	G	G	C	rs145491348	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:45742042G>C	ENST00000320560.8	+	5	779	c.577G>C	c.(577-579)Gat>Cat	p.D193H	ANO6_ENST00000423947.3_Missense_Mutation_p.D214H|ANO6_ENST00000435642.1_Missense_Mutation_p.D193H|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.D193H|ANO6_ENST00000441606.2_Missense_Mutation_p.D175H	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	193					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCGGATGAATGATTTTTACAT	0.413																																					p.D214H		.											.	ANO6-516	0			c.G640C						.						116.0	118.0	117.0					12																	45742042		2203	4300	6503	SO:0001583	missense	196527	exon6			ATGAATGATTTTT	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.577G>C	12.37:g.45742042G>C	ENSP00000320087:p.Asp193His	137	0		119	29	NM_001204803	0	0	0	0	0	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816677	0.32145	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.3	5.3	0.74995	.	0.392083	0.31624	N	0.007336	T	0.53514	0.1801	N	0.17082	0.46	0.38463	D	0.947274	P;B;P;B	0.51351	0.904;0.015;0.944;0.013	P;B;P;B	0.47206	0.535;0.028;0.541;0.011	T	0.50533	-0.8817	10	0.13108	T	0.6	.	13.6522	0.62318	0.0821:0.0:0.9179:0.0	.	175;214;193;193	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	H	193;214;193;193;175	ENSP00000391417:D193H;ENSP00000409126:D214H;ENSP00000413840:D193H;ENSP00000320087:D193H;ENSP00000413137:D175H	ENSP00000320087:D193H	D	+	1	0	ANO6	44028309	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.350000	0.44063	2.861000	0.98227	0.655000	0.94253	GAT	G|1.000;T|0.000		0.413	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	
DHH	50846	ucsc.edu;bcgsc.ca	37	12	49485010	49485010	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:49485010G>T	ENST00000266991.2	-	2	772	c.466C>A	c.(466-468)Cgc>Agc	p.R156S	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	156					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						TACTTGTTGCGGTCGCGGTCA	0.617																																					p.R156S		.											.	DHH-710	0			c.C466A						.						173.0	140.0	151.0					12																	49485010		2203	4300	6503	SO:0001583	missense	50846	exon2			TGTTGCGGTCGCG	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.466C>A	12.37:g.49485010G>T	ENSP00000266991:p.Arg156Ser	268	3		256	184	NM_021044	0	0	0	0	0	Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903148	0.72754	.	.	ENSG00000139549	ENST00000266991	D	0.99466	-5.95	5.27	5.27	0.74061	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.054734	0.64402	D	0.000003	D	0.98902	0.9628	M	0.89030	3	0.47862	D	0.999536	P	0.48503	0.911	B	0.41619	0.361	D	0.98593	1.0655	10	0.87932	D	0	-13.2361	11.7161	0.51655	0.0:0.0:0.718:0.282	.	156	O43323	DHH_HUMAN	S	156	ENSP00000266991:R156S	ENSP00000266991:R156S	R	-	1	0	DHH	47771277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.434000	0.52841	2.645000	0.89757	0.650000	0.86243	CGC	.		0.617	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044	
NCKAP5L	57701	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	50195681	50195681	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:50195681T>A	ENST00000335999.6	-	6	502	c.301A>T	c.(301-303)Agt>Tgt	p.S101C		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	97										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AACAGGGCACTCAGCATCTGG	0.592																																					p.S101C		.											.	NCKAP5L-68	0			c.A301T						.						149.0	168.0	162.0					12																	50195681		2164	4249	6413	SO:0001583	missense	57701	exon6			GGGCACTCAGCAT	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.301A>T	12.37:g.50195681T>A	ENSP00000337998:p.Ser101Cys	176	0		168	117	NM_001037806	0	0	0	0	0	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563327	0.65651	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.49720	0.77	4.74	4.74	0.60224	.	.	.	.	.	T	0.51261	0.1664	N	0.17474	0.49	0.31013	N	0.71896	P	0.36599	0.56	P	0.57283	0.817	T	0.56220	-0.8015	9	0.31617	T	0.26	-7.149	13.5494	0.61723	0.0:0.0:0.0:1.0	.	97	E2QRB5	.	C	101;97	ENSP00000337998:S101C	ENSP00000337998:S101C	S	-	1	0	NCKAP5L	48481948	0.971000	0.33674	0.995000	0.50966	0.994000	0.84299	3.691000	0.54720	1.912000	0.55364	0.459000	0.35465	AGT	.		0.592	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	
FAM186A	121006	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	50746537	50746537	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:50746537C>G	ENST00000327337.5	-	4	4077	c.4078G>C	c.(4078-4080)Ggg>Cgg	p.G1360R	FAM186A_ENST00000543111.1_Missense_Mutation_p.G1360R|FAM186A_ENST00000543096.1_5'Flank	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1360																	AGAGGGATCCCCAGTTCCTGA	0.637																																					p.G1360R	NSCLC(138;1796 1887 12511 19463 37884)	.											.	FAM186A-68	0			c.G4078C						.						19.0	22.0	21.0					12																	50746537		692	1591	2283	SO:0001583	missense	121006	exon4			GGATCCCCAGTTC		CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4078G>C	12.37:g.50746537C>G	ENSP00000329995:p.Gly1360Arg	271	2		454	374	NM_001145475	0	0	0	0	0		Missense_Mutation	SNP	ENST00000327337.5	37	CCDS44878.1	.	.	.	.	.	.	.	.	.	.	c	12.57	1.978728	0.34942	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.04551	3.6;3.6	4.27	1.43	0.22495	.	.	.	.	.	T	0.10465	0.0256	L	0.34521	1.04	0.09310	N	1	D;P	0.71674	0.998;0.869	D;P	0.74023	0.982;0.448	T	0.25363	-1.0134	9	0.46703	T	0.11	.	7.9208	0.29846	0.0:0.7157:0.0:0.2843	.	1360;1360	F5GYN0;A6NE01	.;F186A_HUMAN	R	1360	ENSP00000441337:G1360R;ENSP00000329995:G1360R	ENSP00000329995:G1360R	G	-	1	0	FAM186A	49032804	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.139000	0.10358	0.196000	0.20367	-0.424000	0.05967	GGG	.		0.637	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1	XM_001718353	
KRT81	3887	broad.mit.edu	37	12	52681054	52681054	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:52681054G>T	ENST00000327741.5	-	7	1147	c.1079C>A	c.(1078-1080)gCc>gAc	p.A360D	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	360	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.617																																					p.A360D		.											.	KRT81-90	0			c.C1079A						.						29.0	30.0	30.0					12																	52681054		2202	4295	6497	SO:0001583	missense	3887	exon7			CTGAGGGCCGCCT	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1079C>A	12.37:g.52681054G>T	ENSP00000369349:p.Ala360Asp	81	1		98	8	NM_002281	0	0	0	0	0	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630234	0.67015	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	T	0.74737	-0.87	5.1	5.1	0.69264	Filament (1);	0.169818	0.27577	U	0.018749	D	0.86539	0.5957	M	0.77712	2.385	0.44595	D	0.997567	D	0.59767	0.986	D	0.70227	0.968	D	0.88340	0.2974	10	0.87932	D	0	.	18.5013	0.90882	0.0:0.0:1.0:0.0	.	360	Q14533	KRT81_HUMAN	D	360	ENSP00000369349:A360D	ENSP00000369349:A360D	A	-	2	0	KRT81	50967321	0.997000	0.39634	0.984000	0.44739	0.358000	0.29455	5.633000	0.67825	2.361000	0.80049	0.561000	0.74099	GCC	.		0.617	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281	
KRT6C	286887	bcgsc.ca	37	12	52863507	52863507	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:52863507G>T	ENST00000252250.6	-	7	1418	c.1371C>A	c.(1369-1371)gcC>gcA	p.A457A		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	457	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCACATCCAGGGCCAGCTTGA	0.592																																					p.A457A		.											.	KRT6C-114	0			c.C1371A						.						118.0	104.0	109.0					12																	52863507		2203	4300	6503	SO:0001819	synonymous_variant	286887	exon7			ATCCAGGGCCAGC	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1371C>A	12.37:g.52863507G>T		142	3		171	127	NM_173086	0	0	0	0	0	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																			.		0.592	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086	
KRT74	121391	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	52967215	52967215	+	Missense_Mutation	SNP	G	G	A	rs563878820	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:52967215G>A	ENST00000305620.2	-	1	394	c.347C>T	c.(346-348)aCt>aTt	p.T116I	KRT74_ENST00000549343.1_Missense_Mutation_p.T116I	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	116	Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTTGTTGACAGTGACCTGGTG	0.632																																					p.T116I		.											.	KRT74-92	0			c.C347T						.						85.0	87.0	86.0					12																	52967215		2203	4300	6503	SO:0001583	missense	121391	exon1			TTGACAGTGACCT	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.347C>T	12.37:g.52967215G>A	ENSP00000307240:p.Thr116Ile	122	0		103	49	NM_175053	0	0	0	0	0	B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998691	0.35226	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.78126	-1.15;-1.15	4.39	4.39	0.52855	.	0.000000	0.36409	N	0.002603	T	0.77579	0.4151	M	0.80028	2.48	0.28492	N	0.914449	B	0.19200	0.034	B	0.23852	0.049	T	0.73777	-0.3876	10	0.66056	D	0.02	.	10.2936	0.43610	0.0:0.2048:0.6624:0.1327	.	116	Q7RTS7	K2C74_HUMAN	I	116	ENSP00000447447:T116I;ENSP00000307240:T116I	ENSP00000307240:T116I	T	-	2	0	KRT74	51253482	0.000000	0.05858	0.934000	0.37439	0.863000	0.49368	-0.275000	0.08525	2.378000	0.81104	0.555000	0.69702	ACT	.		0.632	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053	
KRT73	319101	ucsc.edu;bcgsc.ca	37	12	53012266	53012266	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:53012266C>A	ENST00000305748.3	-	1	77	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	15	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGCCCCCCTTGGCAGCA	0.617																																					p.G15W		.											.	KRT73-157	0			c.G43T						.						37.0	44.0	41.0					12																	53012266		2200	4299	6499	SO:0001583	missense	319101	exon1			AGCCCCCCTTGGC	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.43G>T	12.37:g.53012266C>A	ENSP00000307014:p.Gly15Trp	173	3		182	125	NM_175068	0	0	0	0	0	Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933199	0.52866	.	.	ENSG00000186049	ENST00000305748	D	0.95885	-3.84	4.58	3.69	0.42338	.	0.236944	0.29376	N	0.012325	D	0.94169	0.8129	M	0.87682	2.9	0.32021	N	0.600732	P	0.51653	0.947	B	0.40199	0.322	D	0.93909	0.7195	10	0.66056	D	0.02	.	6.6542	0.22979	0.0:0.7352:0.0:0.2648	.	15	Q86Y46	K2C73_HUMAN	W	15	ENSP00000307014:G15W	ENSP00000307014:G15W	G	-	1	0	KRT73	51298533	0.001000	0.12720	0.994000	0.49952	0.807000	0.45602	0.340000	0.19892	1.235000	0.43724	0.655000	0.94253	GGG	.		0.617	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	
IGFBP6	3489	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	53494882	53494882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:53494882C>T	ENST00000301464.3	+	3	811	c.538C>T	c.(538-540)Cga>Tga	p.R180*	IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000548547.1_Nonsense_Mutation_p.R178*|SOAT2_ENST00000301466.3_5'Flank	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	180	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)		p.R180R(1)		large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						TGAGGTCTACCGAGGGGCTCA	0.572																																					p.R180X	Esophageal Squamous(83;1656 1718 30141 34380)	.											.	IGFBP6-523	1	Substitution - coding silent(1)	lung(1)	c.C538T						.						120.0	107.0	111.0					12																	53494882		2203	4300	6503	SO:0001587	stop_gained	3489	exon3			GTCTACCGAGGGG		CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.538C>T	12.37:g.53494882C>T	ENSP00000301464:p.Arg180*	135	0		125	84	NM_002178	0	0	0	0	0	Q14492	Nonsense_Mutation	SNP	ENST00000301464.3	37	CCDS8846.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883897	0.91814	.	.	ENSG00000167779	ENST00000548547;ENST00000301464	.	.	.	4.43	1.56	0.23342	.	0.319207	0.30501	N	0.009483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-12.3004	5.3185	0.15868	0.3573:0.5469:0.0:0.0958	.	.	.	.	X	178;180	.	ENSP00000301464:R180X	R	+	1	2	IGFBP6	51781149	0.985000	0.35326	0.537000	0.28052	0.719000	0.41307	1.135000	0.31454	0.359000	0.24239	0.655000	0.94253	CGA	.		0.572	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1		
ERBB3	2065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	56487188	56487188	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:56487188C>T	ENST00000267101.3	+	12	1774	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.S386F|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	445					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGCTTCCGATCCCTGAAGGAA	0.498																																					p.S445F		.											.	ERBB3-1403	0			c.C1334T						.						101.0	105.0	104.0					12																	56487188		2203	4300	6503	SO:0001583	missense	2065	exon12			TCCGATCCCTGAA	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1334C>T	12.37:g.56487188C>T	ENSP00000267101:p.Ser445Phe	94	0		115	27	NM_001982	0	0	0	0	0	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833449	0.91036	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.52526	0.66;0.66	5.16	5.16	0.70880	EGF receptor, L domain (1);	0.000000	0.64402	D	0.000008	T	0.77987	0.4213	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84347	0.0530	10	0.87932	D	0	.	17.5796	0.87963	0.0:1.0:0.0:0.0	.	445;445	B4DGQ7;P21860	.;ERBB3_HUMAN	F	445;386	ENSP00000267101:S445F;ENSP00000408340:S386F	ENSP00000267101:S445F	S	+	2	0	ERBB3	54773455	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.942000	0.75928	2.676000	0.91093	0.655000	0.94253	TCC	.		0.498	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		
GNS	2799	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	65122777	65122777	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:65122777T>A	ENST00000258145.3	-	10	1329	c.1159A>T	c.(1159-1161)Aat>Tat	p.N387Y	GNS_ENST00000418919.2_Missense_Mutation_p.N331Y|GNS_ENST00000542058.1_Missense_Mutation_p.N367Y|GNS_ENST00000543646.1_Missense_Mutation_p.N419Y	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	387					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TGTGTCTTATTTAGGTCGTAG	0.448																																					p.N387Y		.											.	GNS-514	0			c.A1159T						.						170.0	134.0	146.0					12																	65122777		2203	4300	6503	SO:0001583	missense	2799	exon10			TCTTATTTAGGTC		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1159A>T	12.37:g.65122777T>A	ENSP00000258145:p.Asn387Tyr	123	0		128	72	NM_002076	0	0	0	0	0	B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165424	0.38217	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.44	5.44	0.79542	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.042851	0.85682	D	0.000000	D	0.95341	0.8488	L	0.32530	0.975	0.58432	D	0.999998	D;D;B;D	0.61697	0.99;0.957;0.04;0.975	P;P;B;P	0.54174	0.744;0.546;0.063;0.574	D	0.94605	0.7799	9	.	.	.	-26.1401	15.8074	0.78524	0.0:0.0:0.0:1.0	.	367;419;387;331	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	Y	331;387;419;367;304;324	ENSP00000413130:N331Y;ENSP00000258145:N387Y;ENSP00000438497:N419Y;ENSP00000444819:N367Y	.	N	-	1	0	GNS	63409044	1.000000	0.71417	0.961000	0.40146	0.103000	0.19146	5.904000	0.69886	2.206000	0.71126	0.455000	0.32223	AAT	.		0.448	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2		
GRIP1	23426	ucsc.edu;bcgsc.ca	37	12	66838367	66838367	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:66838367C>G	ENST00000398016.3	-	12	1596	c.1528G>C	c.(1528-1530)Gca>Cca	p.A510P	GRIP1_ENST00000286445.7_Missense_Mutation_p.A562P|GRIP1_ENST00000359742.4_Missense_Mutation_p.A562P	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATTATACCTGCAACATCAAAC	0.408																																					p.A510P		.											.	GRIP1-494	0			c.G1528C						.						102.0	106.0	105.0					12																	66838367		1939	4143	6082	SO:0001583	missense	23426	exon12			TACCTGCAACATC	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1528G>C	12.37:g.66838367C>G	ENSP00000381098:p.Ala510Pro	156	4		142	78	NM_001178074	0	0	0	0	0	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.666576|4.666576	0.88251|0.88251	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.24538|.	1.87;1.88;1.88;1.85;1.94;1.97|.	5.62|5.62	5.62|5.62	0.85841|0.85841	PDZ/DHR/GLGF (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74465|0.74465	0.3720|0.3720	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.89917|.	1.0;0.851;1.0;0.656|.	D;P;D;P|.	0.97110|.	1.0;0.822;0.998;0.601|.	T|T	0.71474|0.71474	-0.4582|-0.4582	9|5	.|.	.|.	.|.	.|.	19.6584|19.6584	0.95853|0.95853	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	510;562;510;562|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	P|F	510;562;562;510;454;402|376	ENSP00000381098:A510P;ENSP00000352780:A562P;ENSP00000286445:A562P;ENSP00000446047:A510P;ENSP00000446024:A454P;ENSP00000446011:A402P|.	.|.	A|L	-|-	1|3	0|2	GRIP1|GRIP1	65124634|65124634	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.798000|0.798000	0.45092|0.45092	7.487000|7.487000	0.81328|0.81328	2.645000|2.645000	0.89757|0.89757	0.551000|0.551000	0.68910|0.68910	GCA|TTG	.		0.408	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
CAND1	55832	broad.mit.edu;mdanderson.org	37	12	67675711	67675711	+	Missense_Mutation	SNP	G	G	C	rs79653663		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:67675711G>C	ENST00000545606.1	+	2	527	c.90G>C	c.(88-90)ttG>ttC	p.L30F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	30					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)		CAAATGATTTGATGACGGAAC	0.274																																					p.L30F		.											.	CAND1-516	0			c.G90C						.						73.0	74.0	74.0					12																	67675711		2203	4300	6503	SO:0001583	missense	55832	exon2			TGATTTGATGACG		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.90G>C	12.37:g.67675711G>C	ENSP00000442318:p.Leu30Phe	29	0		20	8	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	21.1	4.094499	0.76870	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540525	T;T	0.78246	-1.16;-1.16	5.87	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90010	0.6881	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90062	0.4157	9	.	.	.	-6.5455	10.7768	0.46354	0.2055:0.0:0.7945:0.0	.	30	Q86VP6	CAND1_HUMAN	F	30;30;6	ENSP00000442318:L30F;ENSP00000437594:L6F	.	L	+	3	2	CAND1	65961978	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.592000	0.67543	0.405000	0.25532	-0.145000	0.13849	TTG	.		0.274	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
LGR5	8549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	71972663	71972663	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:71972663C>G	ENST00000266674.5	+	15	1671	c.1360C>G	c.(1360-1362)Cat>Gat	p.H454D	LGR5_ENST00000536515.1_Missense_Mutation_p.H382D|LGR5_ENST00000540815.2_Missense_Mutation_p.H430D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	454					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AACAGGAAATCATGCCTTACA	0.353																																					p.H454D		.											.	LGR5-527	0			c.C1360G						.						137.0	131.0	133.0					12																	71972663		2203	4300	6503	SO:0001583	missense	8549	exon15			GGAAATCATGCCT	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1360C>G	12.37:g.71972663C>G	ENSP00000266674:p.His454Asp	116	0		99	61	NM_003667	0	0	0	0	0	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922981	0.33908	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.57595	0.45;0.39;0.53	5.84	4.93	0.64822	.	0.309664	0.28453	N	0.015295	T	0.43919	0.1269	L	0.42245	1.32	0.29075	N	0.883076	B;B	0.17465	0.008;0.022	B;B	0.22386	0.039;0.028	T	0.39961	-0.9588	10	0.36615	T	0.2	.	9.6163	0.39694	0.1426:0.7873:0.0:0.0701	.	430;454	O75473-2;O75473	.;LGR5_HUMAN	D	454;454;382;430	ENSP00000266674:H454D;ENSP00000443033:H382D;ENSP00000441035:H430D	ENSP00000266674:H454D	H	+	1	0	LGR5	70258930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.005000	0.40864	1.435000	0.47434	0.650000	0.86243	CAT	.		0.353	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667	
LGR5	8549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	71978418	71978418	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:71978418C>G	ENST00000266674.5	+	18	2939	c.2628C>G	c.(2626-2628)atC>atG	p.I876M	LGR5_ENST00000536515.1_Missense_Mutation_p.I804M|LGR5_ENST00000540815.2_Missense_Mutation_p.I852M|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	876					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCTCCAGCATCACTTATGACC	0.463																																					p.I876M		.											.	LGR5-527	0			c.C2628G						.						163.0	154.0	157.0					12																	71978418		2203	4300	6503	SO:0001583	missense	8549	exon18			CAGCATCACTTAT	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2628C>G	12.37:g.71978418C>G	ENSP00000266674:p.Ile876Met	78	0		82	46	NM_003667	0	0	0	0	0	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	5.516	0.280076	0.10458	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.58210	0.41;0.35;0.49	6.06	-11.0	0.00169	.	0.359927	0.27035	N	0.021242	T	0.30198	0.0757	L	0.51422	1.61	0.24316	N	0.995068	B;B	0.27117	0.168;0.059	B;B	0.20767	0.031;0.014	T	0.03534	-1.1027	10	0.33940	T	0.23	.	6.1489	0.20301	0.333:0.4553:0.135:0.0768	.	852;876	O75473-2;O75473	.;LGR5_HUMAN	M	876;804;852	ENSP00000266674:I876M;ENSP00000443033:I804M;ENSP00000441035:I852M	ENSP00000266674:I876M	I	+	3	3	LGR5	70264685	0.705000	0.27846	0.622000	0.29159	0.084000	0.17831	-0.244000	0.08903	-1.407000	0.02043	-1.312000	0.01307	ATC	.		0.463	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667	
TRHDE	29953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	72680494	72680494	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:72680494T>G	ENST00000261180.4	+	2	909	c.813T>G	c.(811-813)caT>caG	p.H271Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	271					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGCCTACACATGCCAGAAAGG	0.353																																					p.H271Q		.											.	TRHDE-93	0			c.T813G						.						137.0	126.0	130.0					12																	72680494		2203	4300	6503	SO:0001583	missense	29953	exon2			TACACATGCCAGA	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.813T>G	12.37:g.72680494T>G	ENSP00000261180:p.His271Gln	128	0		107	67	NM_013381	0	0	0	0	0	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.24|18.24	3.579381|3.579381	0.65878|0.65878	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000547300|ENST00000261180	.|T	.|0.04551	.|3.6	5.83|5.83	3.52|3.52	0.40303|0.40303	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.12092|0.12092	0.0294|0.0294	L|L	0.58810|0.58810	1.83|1.83	0.54753|0.54753	D|D	0.999982|0.999982	.|D	.|0.59357	.|0.985	.|P	.|0.57057	.|0.812	T|T	0.01013|0.01013	-1.1481|-1.1481	5|10	.|0.59425	.|D	.|0.04	.|.	9.7572|9.7572	0.40510|0.40510	0.0:0.1383:0.0:0.8617|0.0:0.1383:0.0:0.8617	.|.	.|271	.|Q9UKU6	.|TRHDE_HUMAN	G|Q	37|271	.|ENSP00000261180:H271Q	.|ENSP00000261180:H271Q	C|H	+|+	1|3	0|2	TRHDE|TRHDE	70966761|70966761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.811000|1.811000	0.38942|0.38942	1.045000|1.045000	0.40225|0.40225	-0.256000|-0.256000	0.11100|0.11100	TGC|CAT	.		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
SLC6A15	55117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	85255765	85255765	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:85255765G>C	ENST00000266682.5	-	12	2380	c.1839C>G	c.(1837-1839)agC>agG	p.S613R	SLC6A15_ENST00000309283.7_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.S506R	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	613					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATGTTGGATAGCTCAGAAATT	0.353																																					p.S613R		.											.	SLC6A15-93	0			c.C1839G						.						80.0	87.0	85.0					12																	85255765		2195	4295	6490	SO:0001583	missense	55117	exon12			TGGATAGCTCAGA	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1839C>G	12.37:g.85255765G>C	ENSP00000266682:p.Ser613Arg	97	0		42	18	NM_182767	0	0	0	0	0	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	G	4.043	0.005621	0.07866	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.74209	-0.82;-0.82	5.99	4.16	0.48862	.	0.338275	0.36893	N	0.002343	T	0.57066	0.2028	L	0.28776	0.89	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.44298	-0.9337	10	0.13108	T	0.6	.	7.525	0.27650	0.1346:0.0:0.7295:0.1359	.	613	Q9H2J7	S6A15_HUMAN	R	613;506;91	ENSP00000266682:S613R;ENSP00000450145:S506R	ENSP00000266682:S613R	S	-	3	2	SLC6A15	83779896	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	4.353000	0.59411	0.851000	0.35264	0.655000	0.94253	AGC	.		0.353	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
TMPO	7112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	98940166	98940166	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:98940166A>G	ENST00000556029.1	+	8	1376	c.1020A>G	c.(1018-1020)gtA>gtG	p.V340V	TMPO_ENST00000343315.5_Silent_p.V300V|TMPO_ENST00000393053.2_Silent_p.V231V|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	340	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAGAAGAGTAGAAAGGGATA	0.313																																					p.V340V		.											.	TMPO-93	0			c.A1020G						.						134.0	135.0	134.0					12																	98940166		2203	4299	6502	SO:0001819	synonymous_variant	7112	exon8			AAGAGTAGAAAGG		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1020A>G	12.37:g.98940166A>G		118	0		105	61	NM_001032283	0	0	0	0	0	A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	CCDS31879.1																																																																																			.		0.313	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
SLC5A8	160728	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	101603553	101603553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:101603553G>T	ENST00000536262.2	-	1	632	c.74C>A	c.(73-75)tCg>tAg	p.S25*		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GATGGCGGCCGAGATGACCAG	0.687																																					p.S25X	GBM(60;420 1056 13605 22380 47675)	.											.	SLC5A8-90	0			c.C74A						.						29.0	28.0	28.0					12																	101603553		2202	4292	6494	SO:0001587	stop_gained	160728	exon1			GCGGCCGAGATGA	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.74C>A	12.37:g.101603553G>T	ENSP00000445340:p.Ser25*	57	0		94	68	NM_145913	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	44	11.039042	0.99507	.	.	ENSG00000256870	ENST00000536262	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4168	0.94704	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000445340:S25X	S	-	2	0	SLC5A8	100127684	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	8.004000	0.88535	2.592000	0.87571	0.561000	0.74099	TCG	.		0.687	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
ALDH1L2	160428	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	105424132	105424132	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:105424132G>T	ENST00000258494.9	-	21	2626	c.2486C>A	c.(2485-2487)cCt>cAt	p.P829H	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	829	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GACCATAATAGGCCCAAAGGA	0.398																																					p.P829H		.											.	ALDH1L2-91	0			c.C2486A						.						88.0	86.0	87.0					12																	105424132		2203	4300	6503	SO:0001583	missense	160428	exon21			ATAATAGGCCCAA	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2486C>A	12.37:g.105424132G>T	ENSP00000258494:p.Pro829His	82	0		84	54	NM_001034173	0	0	0	0	0	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132592	0.94473	.	.	ENSG00000136010	ENST00000258494	D	0.95412	-3.7	5.92	5.92	0.95590	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98507	1.0617	10	0.87932	D	0	.	20.3081	0.98638	0.0:0.0:1.0:0.0	.	829	Q3SY69	AL1L2_HUMAN	H	829	ENSP00000258494:P829H	ENSP00000258494:P829H	P	-	2	0	ALDH1L2	103948262	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.714000	0.98744	2.795000	0.96236	0.655000	0.94253	CCT	.		0.398	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	
BTBD11	121551	broad.mit.edu;bcgsc.ca	37	12	108003971	108003971	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:108003971G>T	ENST00000280758.5	+	5	2176	c.1648G>T	c.(1648-1650)Gac>Tac	p.D550Y	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.D550Y|BTBD11_ENST00000357167.4_Missense_Mutation_p.D87Y|BTBD11_ENST00000420571.2_Missense_Mutation_p.D550Y	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	550						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCTTAGGGCCGACGACTGCTT	0.562											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D550Y		.											.	BTBD11-93	0			c.G1648T						.						116.0	104.0	108.0					12																	108003971		2203	4300	6503	SO:0001583	missense	121551	exon5			AGGGCCGACGACT	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1648G>T	12.37:g.108003971G>T	ENSP00000280758:p.Asp550Tyr	120	2	21	120	92	NM_001018072	0	0	0	0	0	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411076	0.83340	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943;ENST00000357167	T;T;T;T;T;T	0.54479	1.12;1.18;1.16;0.57;0.74;1.0	5.5	5.5	0.81552	.	0.044636	0.85682	D	0.000000	T	0.72293	0.3442	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.79784	0.979;0.925;0.952;0.993	T	0.72899	-0.4152	10	0.54805	T	0.06	.	19.3929	0.94592	0.0:0.0:1.0:0.0	.	550;87;550;550	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	Y	550;550;550;181;184;87	ENSP00000280758:D550Y;ENSP00000413889:D550Y;ENSP00000447319:D550Y;ENSP00000447606:D181Y;ENSP00000407416:D184Y;ENSP00000349690:D87Y	ENSP00000280758:D550Y	D	+	1	0	BTBD11	106528101	1.000000	0.71417	0.997000	0.53966	0.683000	0.39861	9.808000	0.99193	2.572000	0.86782	0.462000	0.41574	GAC	.		0.562	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
TRPV4	59341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	110231758	110231758	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:110231758C>A	ENST00000418703.2	-	8	1655	c.1561G>T	c.(1561-1563)Ggg>Tgg	p.G521W	TRPV4_ENST00000392719.2_Missense_Mutation_p.G474W|TRPV4_ENST00000536838.1_Missense_Mutation_p.G487W|TRPV4_ENST00000537083.1_Missense_Mutation_p.G461W|TRPV4_ENST00000261740.2_Missense_Mutation_p.G521W|TRPV4_ENST00000541794.1_Missense_Mutation_p.G474W|TRPV4_ENST00000544971.1_Missense_Mutation_p.G414W|TRPV4_ENST00000346520.2_Missense_Mutation_p.G461W	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	521					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AACAGGACCCCAGTGAAGAGC	0.622																																					p.G521W		.											.	TRPV4-94	0			c.G1561T						.						46.0	36.0	40.0					12																	110231758		2203	4300	6503	SO:0001583	missense	59341	exon9			GGACCCCAGTGAA	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1561G>T	12.37:g.110231758C>A	ENSP00000406191:p.Gly521Trp	251	0		241	182	NM_021625	0	0	0	0	0	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623431	0.66901	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.96793	0.8953	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.97411	1.0002	10	0.66056	D	0.02	3.1814	16.0526	0.80774	0.0:1.0:0.0:0.0	.	461;521;414;474;487	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	W	521;521;474;461;414;461;474;487	ENSP00000406191:G521W;ENSP00000261740:G521W;ENSP00000376480:G474W;ENSP00000319003:G461W;ENSP00000443611:G414W;ENSP00000442738:G461W;ENSP00000442167:G474W;ENSP00000444336:G487W	ENSP00000261740:G521W	G	-	1	0	TRPV4	108716141	0.980000	0.34600	0.648000	0.29521	0.542000	0.35054	4.942000	0.63547	2.247000	0.74100	0.462000	0.41574	GGG	.		0.622	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
PPP1CC	5501	bcgsc.ca	37	12	111160003	111160003	+	Silent	SNP	G	G	A	rs1973505	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:111160003G>A	ENST00000335007.5	-	6	1009	c.819C>T	c.(817-819)tgC>tgT	p.C273C	PPP1CC_ENST00000550991.1_Silent_p.C273C|PPP1CC_ENST00000546933.1_Silent_p.C282C|PPP1CC_ENST00000551676.1_3'UTR|PPP1CC_ENST00000340766.5_Silent_p.C273C	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	273		Inhibition by microcystin toxin binding.			cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						CAAACTCTCCGCAATAATTGG	0.368													A|||	1176	0.234824	0.5303	0.121	5008	,	,		19020	0.0635		0.164	False		,,,				2504	0.1656				p.C273C		.											.	PPP1CC-1082	0			c.C819T						.	A		2158,2248	595.9+/-388.5	534,1090,579	109.0	104.0	105.0		819	4.6	1.0	12	dbSNP_92	105	1182,7418	764.6+/-407.6	84,1014,3202	no	coding-synonymous	PPP1CC	NM_002710.3		618,2104,3781	AA,AG,GG		13.7442,48.9787,25.6805		273/324	111160003	3340,9666	2203	4300	6503	SO:0001819	synonymous_variant	5501	exon6			CTCTCCGCAATAA		CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9283	protein-coding gene	gene with protein product		176914	"""protein phosphatase 1, catalytic subunit, gamma isoform"""				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.819C>T	12.37:g.111160003G>A		148	2		129	8	NM_002710	0	0	0	0	0		Silent	SNP	ENST00000335007.5	37	CCDS9150.1																																																																																			G|0.770;A|0.230		0.368	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404659.1		
ACAD10	80724	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	112130583	112130583	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:112130583A>C	ENST00000313698.4	+	2	225	c.70A>C	c.(70-72)Acc>Ccc	p.T24P	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.T24P|ACAD10_ENST00000455480.2_Missense_Mutation_p.T24P	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	24						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTGAAACACACCCAGCGCAG	0.592																																					p.T24P		.											.	ACAD10-92	0			c.A70C						.						136.0	116.0	123.0					12																	112130583		2203	4300	6503	SO:0001583	missense	80724	exon2			AAACACACCCAGC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.70A>C	12.37:g.112130583A>C	ENSP00000325137:p.Thr24Pro	96	2		124	77	NM_001136538	0	0	0	0	0	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654170	0.29425	.	.	ENSG00000111271	ENST00000514615;ENST00000509936;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000507135;ENST00000313698	T;D;D	0.95001	3.27;-3.58;-3.57	4.94	-8.41	0.00961	.	2.651740	0.01089	N	0.005154	D	0.85835	0.5789	N	0.12182	0.205	0.09310	N	0.999998	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.001	T	0.76675	-0.2872	10	0.34782	T	0.22	.	8.0135	0.30368	0.2642:0.2534:0.4823:0.0	.	24;24;24;24;24	G3XAJ0;F8VZG7;Q6JQN1;Q6JQN1-2;Q6JQN1-4	.;.;ACD10_HUMAN;.;.	P	24	ENSP00000446959:T24P;ENSP00000389813:T24P;ENSP00000325137:T24P	ENSP00000325137:T24P	T	+	1	0	ACAD10	110614966	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.680000	0.01939	-1.460000	0.01911	-0.456000	0.05471	ACC	.		0.592	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	
HECTD4	283450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	112701980	112701980	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:112701980G>C	ENST00000430131.2	-	16	2505	c.1360C>G	c.(1360-1362)Cag>Gag	p.Q454E	RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000550722.1_Missense_Mutation_p.Q742E|HECTD4_ENST00000377560.5_Missense_Mutation_p.Q704E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	454					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGGTGATTCTGAACTGCCATC	0.413																																					p.Q742E		.											.	.	0			c.C2224G						.						97.0	77.0	84.0					12																	112701980		2203	4300	6503	SO:0001583	missense	283450	exon17			GATTCTGAACTGC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1360C>G	12.37:g.112701980G>C	ENSP00000404379:p.Gln454Glu	109	0		103	21	NM_001109662	0	0	0	0	0	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.980253	0.74474	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.45276	0.9;0.9;0.9	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	N	0.14661	0.345	0.48571	D	0.999679	P;P;P	0.43578	0.811;0.713;0.811	P;P;P	0.54924	0.764;0.68;0.764	T	0.51317	-0.8721	10	0.72032	D	0.01	.	19.7012	0.96054	0.0:0.0:1.0:0.0	.	454;454;454	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	E	704;454;742	ENSP00000366783:Q704E;ENSP00000404379:Q454E;ENSP00000449784:Q742E	ENSP00000366783:Q704E	Q	-	1	0	C12orf51	111186363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.637000	0.89404	0.563000	0.77884	CAG	.		0.413	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
RPH3A	22895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	113304642	113304642	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:113304642G>A	ENST00000389385.4	+	7	938	c.441G>A	c.(439-441)agG>agA	p.R147R	RPH3A_ENST00000447659.2_Silent_p.R98R|RPH3A_ENST00000548866.1_Silent_p.R98R|RPH3A_ENST00000543106.2_Silent_p.R147R|RPH3A_ENST00000551052.1_Silent_p.R143R|RPH3A_ENST00000415485.3_Silent_p.R147R|RPH3A_ENST00000420983.2_Silent_p.R147R	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	147	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TTGAGCAGAGGGAGGTGAGTG	0.542																																					p.R147R		.											.	RPH3A-519	0			c.G441A						.						119.0	93.0	102.0					12																	113304642		2203	4300	6503	SO:0001819	synonymous_variant	22895	exon7			GCAGAGGGAGGTG	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.441G>A	12.37:g.113304642G>A		123	0		133	88	NM_001143854	0	0	0	0	0	B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	CCDS44979.1																																																																																			.		0.542	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	
TBX5	6910	ucsc.edu;bcgsc.ca	37	12	114793514	114793514	+	Silent	SNP	G	G	T	rs575162861		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:114793514G>T	ENST00000310346.4	-	9	2046	c.1380C>A	c.(1378-1380)tcC>tcA	p.S460S	TBX5_ENST00000405440.2_Silent_p.S460S|TBX5_ENST00000349716.5_Silent_p.S410S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	460				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGTGGGCCACGGAGGTCTGGT	0.667																																					p.S460S	NSCLC(152;1358 1980 4050 23898 40356)	.											.	TBX5-98	0			c.C1380A						.						26.0	29.0	28.0					12																	114793514		2203	4300	6503	SO:0001819	synonymous_variant	6910	exon9			GGCCACGGAGGTC	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1380C>A	12.37:g.114793514G>T		163	2		172	114	NM_000192	0	0	0	0	0	A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	CCDS9173.1																																																																																			.		0.667	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	
TBX3	6926	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	115112157	115112157	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:115112157C>G	ENST00000257566.3	-	7	1972	c.1583G>C	c.(1582-1584)gGg>gCg	p.G528A	TBX3_ENST00000349155.2_Missense_Mutation_p.G508A	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	528					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GAAGGCGCCCCCCATGGCAAA	0.711																																					p.G528A		.											.	TBX3-93	0			c.G1583C						.						5.0	7.0	6.0					12																	115112157		2063	4093	6156	SO:0001583	missense	6926	exon7			GCGCCCCCCATGG	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1583G>C	12.37:g.115112157C>G	ENSP00000257566:p.Gly528Ala	57	0		103	49	NM_016569	0	0	0	0	0	Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294279	0.81025	.	.	ENSG00000135111	ENST00000349155;ENST00000257566	D;D	0.87491	-2.26;-2.24	5.06	5.06	0.68205	.	0.261063	0.43919	N	0.000502	D	0.91503	0.7317	L	0.54908	1.71	0.80722	D	1	P;D	0.76494	0.692;0.999	B;D	0.81914	0.325;0.995	D	0.90222	0.4272	10	0.33141	T	0.24	.	17.4208	0.87514	0.0:1.0:0.0:0.0	.	508;528	O15119-2;O15119	.;TBX3_HUMAN	A	508;528	ENSP00000257567:G508A;ENSP00000257566:G528A	ENSP00000257566:G528A	G	-	2	0	TBX3	113596540	1.000000	0.71417	0.993000	0.49108	0.802000	0.45316	3.659000	0.54489	2.335000	0.79485	0.655000	0.94253	GGG	.		0.711	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996	
RNFT2	84900	bcgsc.ca	37	12	117274029	117274029	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:117274029G>T	ENST00000257575.4	+	10	1375	c.1142G>T	c.(1141-1143)gGt>gTt	p.G381V	RNFT2_ENST00000551251.1_3'UTR|RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Missense_Mutation_p.G381V|RNFT2_ENST00000392549.2_Missense_Mutation_p.G381V			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	381						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)		ACAGAAGCTGGTGACATCTGC	0.607																																					p.G381V		.											.	.	0			c.G1142T						.						39.0	33.0	35.0					12																	117274029		2203	4299	6502	SO:0001583	missense	84900	exon10			AAGCTGGTGACAT	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.1142G>T	12.37:g.117274029G>T	ENSP00000257575:p.Gly381Val	78	2		69	51	NM_001109903	0	0	0	0	0	E9PAM7|Q96SU5	Missense_Mutation	SNP	ENST00000257575.4	37	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919090	0.73098	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549	T;T	0.69435	-0.4;-0.4	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82609	0.5074	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84279	0.0493	10	0.87932	D	0	-20.7396	19.3302	0.94283	0.0:0.0:1.0:0.0	.	381;381	Q96EX2;E9PAM7	RNFT2_HUMAN;.	V	381	ENSP00000257575:G381V;ENSP00000376332:G381V	ENSP00000257575:G381V	G	+	2	0	RNFT2	115758412	1.000000	0.71417	0.274000	0.24659	0.402000	0.30811	9.404000	0.97306	2.572000	0.86782	0.591000	0.81541	GGT	.		0.607	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814	
NOS1	4842	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	117768276	117768276	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:117768276C>A	ENST00000338101.4	-	1	603	c.599G>T	c.(598-600)gGg>gTg	p.G200V	NOS1_ENST00000317775.6_Missense_Mutation_p.G200V|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000344089.3_Missense_Mutation_p.G200V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Ala-rich.				cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ATTGTTCTCCCCTCTGCCTTG	0.637																																					p.G200V	Esophageal Squamous(162;1748 2599 51982 52956)	.											.	NOS1-154	0			c.G599T						.						119.0	127.0	124.0					12																	117768276		2045	4205	6250	SO:0001583	missense	4842	exon2			TTCTCCCCTCTGC		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.599G>T	12.37:g.117768276C>A	ENSP00000337459:p.Gly200Val	95	1		91	49	NM_000620	0	0	0	0	0		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509970	0.44660	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.05319	5.05;3.46;5.06	4.4	1.59	0.23543	.	0.497511	0.23123	N	0.051668	T	0.04907	0.0132	L	0.41236	1.265	0.42035	D	0.991046	B	0.02656	0.0	B	0.04013	0.001	T	0.39165	-0.9627	10	0.36615	T	0.2	-4.6983	3.7164	0.08439	0.2075:0.4265:0.0:0.366	.	200	P29475	NOS1_HUMAN	V	200	ENSP00000320758:G200V;ENSP00000339862:G200V;ENSP00000337459:G200V	ENSP00000320758:G200V	G	-	2	0	NOS1	116252659	0.877000	0.30153	0.001000	0.08648	0.908000	0.53690	1.757000	0.38400	0.140000	0.18849	0.484000	0.47621	GGG	.		0.637	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
SUDS3	64426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	118841234	118841234	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:118841234G>T	ENST00000543473.1	+	10	1027	c.715G>T	c.(715-717)Gag>Tag	p.E239*	SUDS3_ENST00000397564.2_Nonsense_Mutation_p.E240*|SUDS3_ENST00000541280.1_3'UTR	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	239					apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCCTCTCCTGAGCACTTGCC	0.453																																					p.E239X		.											.	SUDS3-90	0			c.G715T						.						53.0	52.0	52.0					12																	118841234		2004	4185	6189	SO:0001587	stop_gained	64426	exon10			TCTCCTGAGCACT	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.715G>T	12.37:g.118841234G>T	ENSP00000443988:p.Glu239*	41	0		50	34	NM_022491	0	0	0	0	0	Q4KMQ5|Q8N6H0|Q9H8D2	Nonsense_Mutation	SNP	ENST00000543473.1	37	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	G	40	7.982561	0.98594	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-14.2541	18.5243	0.90965	0.0:0.0:1.0:0.0	.	.	.	.	X	239;240	.	ENSP00000380695:E240X	E	+	1	0	SUDS3	117325617	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.502000	0.90505	2.691000	0.91804	0.655000	0.94253	GAG	.		0.453	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491	
SRRM4	84530	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	119594333	119594333	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:119594333C>A	ENST00000267260.4	+	13	1954	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	522	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACTATCGGCCCAGCCCCTCCT	0.697																																					p.P522P		.											.	SRRM4-2	0			c.C1566A						.						19.0	25.0	23.0					12																	119594333		2023	4169	6192	SO:0001819	synonymous_variant	84530	exon13			TCGGCCCAGCCCC	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1566C>A	12.37:g.119594333C>A		176	1		205	119	NM_194286	0	0	0	0	0	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	CCDS44994.1																																																																																			.		0.697	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
CCDC60	160777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	119926594	119926594	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:119926594C>A	ENST00000327554.2	+	5	945	c.480C>A	c.(478-480)ctC>ctA	p.L160L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	160										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCTGTGCTCTCCACTGGCTTC	0.537																																					p.L160L		.											.	CCDC60-93	0			c.C480A						.						140.0	122.0	128.0					12																	119926594		2203	4300	6503	SO:0001819	synonymous_variant	160777	exon5			TGCTCTCCACTGG	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.480C>A	12.37:g.119926594C>A		236	0		300	218	NM_178499	0	0	0	0	0		Silent	SNP	ENST00000327554.2	37	CCDS9190.1																																																																																			.		0.537	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499	
WDR66	144406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	122413555	122413555	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:122413555C>T	ENST00000288912.4	+	19	3824	c.2970C>T	c.(2968-2970)gtC>gtT	p.V990V		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	990							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TTCCTTTTGTCATGAGAGCAA	0.443																																					p.V990V	Esophageal Squamous(85;849 1794 49757 52143)	.											.	WDR66-92	0			c.C2970T						.						124.0	115.0	118.0					12																	122413555		1921	4151	6072	SO:0001819	synonymous_variant	144406	exon19			TTTTGTCATGAGA	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2970C>T	12.37:g.122413555C>T		112	0		160	32	NM_144668	0	0	0	0	0	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	CCDS41853.1																																																																																			.		0.443	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
DNAH10	196385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	124335466	124335466	+	Missense_Mutation	SNP	G	G	T	rs370827875		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:124335466G>T	ENST00000409039.3	+	34	5805	c.5780G>T	c.(5779-5781)cGc>cTc	p.R1927L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1927	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGACTCCCGCATGGGCATC	0.622																																					p.R1927L		.											.	DNAH10-95	0			c.G5780T						.						37.0	41.0	40.0					12																	124335466		2141	4269	6410	SO:0001583	missense	196385	exon34			ACTCCCGCATGGG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5780G>T	12.37:g.124335466G>T	ENSP00000386770:p.Arg1927Leu	79	0		98	74	NM_207437	0	0	0	0	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593096	0.66219	.	.	ENSG00000197653	ENST00000409039	T	0.41065	1.01	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.285831	0.29389	U	0.012288	T	0.55513	0.1925	L	0.43923	1.385	0.54753	D	0.999989	D	0.57257	0.979	P	0.59948	0.866	T	0.51450	-0.8704	10	0.44086	T	0.13	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	1927	Q8IVF4	DYH10_HUMAN	L	1927	ENSP00000386770:R1927L	ENSP00000386770:R1927L	R	+	2	0	DNAH10	122901419	0.941000	0.31946	0.023000	0.16930	0.607000	0.37147	4.168000	0.58216	2.576000	0.86940	0.655000	0.94253	CGC	.		0.622	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
TMEM132B	114795	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	126135311	126135311	+	Missense_Mutation	SNP	C	C	A	rs371149663		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:126135311C>A	ENST00000299308.3	+	7	1719	c.1711C>A	c.(1711-1713)Cgt>Agt	p.R571S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R83S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	571						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CGCCACAGTGCGTGTCCTCAC	0.597																																					p.R571S		.											.	TMEM132B-185	0			c.C1711A						.						73.0	83.0	79.0					12																	126135311		2186	4290	6476	SO:0001583	missense	114795	exon7			ACAGTGCGTGTCC	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1711C>A	12.37:g.126135311C>A	ENSP00000299308:p.Arg571Ser	241	2		257	182	NM_052907	0	0	0	0	0	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347084	0.61183	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.54479	0.57;0.57	5.14	4.25	0.50352	.	0.098253	0.45606	D	0.000346	T	0.53738	0.1815	M	0.76574	2.34	0.58432	D	0.999991	P	0.36438	0.553	B	0.38985	0.287	T	0.56019	-0.8048	10	0.51188	T	0.08	.	9.9898	0.41863	0.1374:0.7894:0.0:0.0732	.	571	Q14DG7	T132B_HUMAN	S	571;83	ENSP00000299308:R571S;ENSP00000440436:R83S	ENSP00000299308:R571S	R	+	1	0	TMEM132B	124701264	1.000000	0.71417	0.593000	0.28771	0.615000	0.37417	3.193000	0.50997	1.139000	0.42245	0.650000	0.86243	CGT	.		0.597	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
POLE	5426	bcgsc.ca	37	12	133252041	133252041	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:133252041T>C	ENST00000320574.5	-	12	1212	c.1169A>G	c.(1168-1170)cAg>cGg	p.Q390R	POLE_ENST00000535270.1_Missense_Mutation_p.Q363R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	390					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCTGTCCTTCTGGAAGCCTAT	0.612								DNA polymerases (catalytic subunits)																													p.Q390R		.											.	POLE-233	0			c.A1169G						.						108.0	94.0	98.0					12																	133252041		2203	4300	6503	SO:0001583	missense	5426	exon12			TCCTTCTGGAAGC		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1169A>G	12.37:g.133252041T>C	ENSP00000322570:p.Gln390Arg	79	3		89	56	NM_006231	0	0	0	0	0	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.540117	0.45176	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T;T	0.08984	3.05;3.05;3.05;3.05;3.03	5.91	5.91	0.95273	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.05914	0.0154	N	0.12746	0.255	0.58432	D	0.999998	B;B	0.17268	0.021;0.004	B;B	0.17098	0.01;0.017	T	0.43426	-0.9392	10	0.13853	T	0.58	.	16.3426	0.83092	0.0:0.0:0.0:1.0	.	363;390	F5H1D6;Q07864	.;DPOE1_HUMAN	R	390;401;363;170;325;8	ENSP00000322570:Q390R;ENSP00000406383:Q401R;ENSP00000445753:Q363R;ENSP00000442519:Q170R;ENSP00000443213:Q8R	ENSP00000322570:Q390R	Q	-	2	0	POLE	131762114	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.431000	0.52814	2.263000	0.75096	0.379000	0.24179	CAG	.		0.612	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
RNF17	56163	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	25363494	25363494	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:25363494G>T	ENST00000255324.5	+	8	844	c.792G>T	c.(790-792)cgG>cgT	p.R264R	RNF17_ENST00000255325.6_Silent_p.R264R|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.R264R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	264					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGATTATCCGGACTTTGCAGT	0.338																																					p.R264R		.											.	RNF17-228	0			c.G792T						.						109.0	121.0	117.0					13																	25363494		2203	4296	6499	SO:0001819	synonymous_variant	56163	exon8			TATCCGGACTTTG	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.792G>T	13.37:g.25363494G>T		120	0		61	21	NM_001184993	0	0	0	0	0	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	CCDS9308.2																																																																																			.		0.338	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
CDK8	1024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	26923272	26923272	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:26923272G>T	ENST00000381527.3	+	3	771	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	CDK8_ENST00000536792.1_Missense_Mutation_p.D90Y	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GTCTCATGCTGATAGGAAGGT	0.418																																					p.D90Y		.											.	CDK8-1023	0			c.G268T						.						234.0	211.0	219.0					13																	26923272		2203	4300	6503	SO:0001583	missense	1024	exon3			CATGCTGATAGGA	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.268G>T	13.37:g.26923272G>T	ENSP00000370938:p.Asp90Tyr	127	0		93	33	NM_001260	0	0	0	0	0	Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355119	0.82243	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.66815	-0.23;-0.23	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	L	0.52364	1.645	0.80722	D	1	D;D	0.59357	0.981;0.985	P;P	0.62089	0.837;0.898	T	0.79778	-0.1660	10	0.87932	D	0	-15.2132	18.2519	0.90006	0.0:0.0:1.0:0.0	.	90;90	P49336-2;P49336	.;CDK8_HUMAN	Y	90	ENSP00000370938:D90Y;ENSP00000437696:D90Y	ENSP00000370938:D90Y	D	+	1	0	CDK8	25821272	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	9.476000	0.97823	2.304000	0.77564	0.467000	0.42956	GAT	.		0.418	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1		
MTUS2	23281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	29599201	29599201	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:29599201G>T	ENST00000431530.3	+	1	454	c.396G>T	c.(394-396)caG>caT	p.Q132H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	122						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATAGCCTGCAGACCACGCGGA	0.502																																					p.Q132H		.											.	MTUS2-218	0			c.G396T						.						98.0	99.0	98.0					13																	29599201		2059	4203	6262	SO:0001583	missense	23281	exon1			CCTGCAGACCACG	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.396G>T	13.37:g.29599201G>T	ENSP00000392057:p.Gln132His	153	0		86	34	NM_001033602	0	0	0	0	0	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	13.94	2.388359	0.42308	.	.	ENSG00000132938	ENST00000431530	T	0.13657	2.57	4.99	3.15	0.36227	.	0.652521	0.13573	N	0.377913	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.26985	-1.0087	9	.	.	.	.	2.5981	0.04859	0.1588:0.147:0.5219:0.1723	.	122	Q5JR59	MTUS2_HUMAN	H	132	ENSP00000392057:Q132H	.	Q	+	3	2	MTUS2	28497201	0.226000	0.23696	0.022000	0.16811	0.006000	0.05464	1.681000	0.37618	1.170000	0.42753	0.655000	0.94253	CAG	.		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
MTUS2	23281	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	29599429	29599429	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:29599429A>G	ENST00000431530.3	+	1	682	c.624A>G	c.(622-624)ctA>ctG	p.L208L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	198						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CACAGCCTCTATCCCTCGACT	0.597																																					p.L208L		.											.	MTUS2-218	0			c.A624G						.						35.0	40.0	38.0					13																	29599429		2157	4259	6416	SO:0001819	synonymous_variant	23281	exon1			GCCTCTATCCCTC	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.624A>G	13.37:g.29599429A>G		96	1		59	26	NM_001033602	0	0	0	0	0	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	CCDS45022.1																																																																																			.		0.597	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
MTUS2	23281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	29600623	29600623	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:29600623G>T	ENST00000431530.3	+	1	1876	c.1818G>T	c.(1816-1818)ggG>ggT	p.G606G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	596						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCCCAGTGGGATCCCCAAGC	0.532																																					p.G606G		.											.	MTUS2-218	0			c.G1818T						.						50.0	54.0	53.0					13																	29600623		1946	4137	6083	SO:0001819	synonymous_variant	23281	exon1			CAGTGGGATCCCC	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.1818G>T	13.37:g.29600623G>T		122	0		74	23	NM_001033602	0	0	0	0	0	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	CCDS45022.1																																																																																			.		0.532	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
MTUS2	23281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	30054476	30054476	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:30054476G>C	ENST00000380808.2	+	3	527	c.311G>C	c.(310-312)aGc>aCc	p.S104T	MTUS2-AS1_ENST00000323380.5_RNA|MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000431530.3_Missense_Mutation_p.S1135T|MTUS2_ENST00000542829.1_Missense_Mutation_p.S14T	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1125						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGCTGCTGAGCATCCGGTGT	0.657																																					p.S1135T		.											.	MTUS2-218	0			c.G3404C						.						10.0	14.0	13.0					13																	30054476		2070	4197	6267	SO:0001583	missense	23281	exon8			TGCTGAGCATCCG	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	ENST00000380808.2:c.311G>C	13.37:g.30054476G>C	ENSP00000370186:p.Ser104Thr	180	0		112	40	NM_001033602	0	0	0	0	0	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000380808.2	37	CCDS41874.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721991	0.30503	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	T;T;T	0.22134	2.75;2.26;1.97	4.88	3.15	0.36227	.	0.314890	0.38326	N	0.001738	T	0.11922	0.0290	N	0.22421	0.69	0.09310	N	1	B;B	0.26845	0.006;0.161	B;B	0.28638	0.025;0.092	T	0.25257	-1.0137	9	.	.	.	.	5.6542	0.17633	0.1727:0.0:0.6685:0.1587	.	104;1125	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	T	1135;104;14;61	ENSP00000392057:S1135T;ENSP00000370186:S104T;ENSP00000445403:S14T	.	S	+	2	0	MTUS2	28952476	0.022000	0.18835	0.326000	0.25389	0.823000	0.46562	0.786000	0.26844	0.668000	0.31126	0.555000	0.69702	AGC	.		0.657	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270	
DCLK1	9201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	36699966	36699966	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:36699966C>A	ENST00000360631.3	-	2	520	c.309G>T	c.(307-309)caG>caT	p.Q103H	DCLK1_ENST00000379892.4_Missense_Mutation_p.Q103H|DCLK1_ENST00000255448.4_Missense_Mutation_p.Q103H			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	103	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTCTCACTCCCTGGGGCAAAT	0.532																																					p.Q103H		.											.	DCLK1-826	0			c.G309T						.						96.0	91.0	93.0					13																	36699966		2203	4300	6503	SO:0001583	missense	9201	exon2			CACTCCCTGGGGC	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.309G>T	13.37:g.36699966C>A	ENSP00000353846:p.Gln103His	155	0		111	31	NM_004734	0	0	0	0	0	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	C	18.72	3.684356	0.68157	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.92446	-3.04;-3.04;-3.04	5.72	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.94873	0.8343	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94440	0.7657	10	0.45353	T	0.12	.	14.571	0.68210	0.0:0.9299:0.0:0.0701	.	103	O15075-2	.	H	103	ENSP00000255448:Q103H;ENSP00000353846:Q103H;ENSP00000369222:Q103H	ENSP00000255448:Q103H	Q	-	3	2	DCLK1	35597966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.826000	0.62715	1.408000	0.46895	0.655000	0.94253	CAG	.		0.532	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
SMAD9	4093	broad.mit.edu;bcgsc.ca;mdanderson.org	37	13	37427574	37427574	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:37427574G>A	ENST00000399275.2	-	5	1381	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	SMAD9_ENST00000350148.5_Silent_p.I377I|SMAD9_ENST00000379826.4_Silent_p.I414I			O15198	SMAD9_HUMAN	SMAD family member 9	414	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AACTCATCCGGATAGTACACA	0.458																																					p.I414I		.											.	SMAD9-414	0			c.C1242T						.						85.0	78.0	80.0					13																	37427574		2203	4300	6503	SO:0001819	synonymous_variant	4093	exon6			CATCCGGATAGTA		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.1242C>T	13.37:g.37427574G>A		69	0		45	12	NM_001127217	0	0	0	0	0	A2A2Y6|O14989|Q5TBA1	Silent	SNP	ENST00000399275.2	37	CCDS45032.1																																																																																			.		0.458	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905	
EXOSC8	11340	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	37582275	37582275	+	Missense_Mutation	SNP	G	G	T	rs200992929		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:37582275G>T	ENST00000389704.3	+	9	834	c.569G>T	c.(568-570)aGa>aTa	p.R190I		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	190					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TTGAATATTAGAACTCATCCA	0.284																																					p.R190I		.											.	EXOSC8-91	0			c.G569T						.						48.0	55.0	52.0					13																	37582275		2202	4282	6484	SO:0001583	missense	11340	exon9			ATATTAGAACTCA	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.569G>T	13.37:g.37582275G>T	ENSP00000374354:p.Arg190Ile	107	0		45	6	NM_181503	0	0	0	0	0	O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	37	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999229	0.35226	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.47177	0.85	5.53	3.8	0.43715	Exoribonuclease, phosphorolytic domain 2 (1);	0.567130	0.21503	N	0.073498	T	0.44540	0.1298	M	0.74467	2.265	0.49483	D	0.999798	B;B	0.14805	0.011;0.002	B;B	0.10450	0.005;0.001	T	0.31475	-0.9942	10	0.33940	T	0.23	-4.0867	6.9305	0.24439	0.1443:0.0:0.7152:0.1405	.	162;190	Q5JXM0;Q96B26	.;EXOS8_HUMAN	I	190;162	ENSP00000374354:R190I	ENSP00000369137:R162I	R	+	2	0	EXOSC8	36480275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.095000	0.41729	0.710000	0.31997	0.655000	0.94253	AGA	G|1.000;A|0.000		0.284	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503	
FREM2	341640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	39264618	39264618	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:39264618G>T	ENST00000280481.7	+	1	3353	c.3137G>T	c.(3136-3138)gGt>gTt	p.G1046V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1046					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGAGAATTGGTGGCAATACT	0.433																																					p.G1046V		.											.	FREM2-100	0			c.G3137T						.						123.0	124.0	123.0					13																	39264618		2203	4300	6503	SO:0001583	missense	341640	exon1			GAATTGGTGGCAA	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3137G>T	13.37:g.39264618G>T	ENSP00000280481:p.Gly1046Val	96	0		53	21	NM_207361	0	0	0	0	0	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315398	0.40996	.	.	ENSG00000150893	ENST00000280481	T	0.53857	0.6	5.79	5.79	0.91817	.	0.385909	0.31156	N	0.008155	T	0.72748	0.3499	M	0.92219	3.285	0.80722	D	1	P	0.49862	0.929	P	0.48901	0.594	T	0.80284	-0.1447	10	0.87932	D	0	.	20.0413	0.97592	0.0:0.0:1.0:0.0	.	1046	Q5SZK8	FREM2_HUMAN	V	1046	ENSP00000280481:G1046V	ENSP00000280481:G1046V	G	+	2	0	FREM2	38162618	1.000000	0.71417	0.062000	0.19696	0.126000	0.20510	9.864000	0.99589	2.751000	0.94390	0.650000	0.86243	GGT	.		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
NAA16	79612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	41932560	41932560	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:41932560G>T	ENST00000379406.3	+	11	1532	c.1208G>T	c.(1207-1209)aGt>aTt	p.S403I	NAA16_ENST00000379367.3_Missense_Mutation_p.S403I|NAA16_ENST00000403412.3_Missense_Mutation_p.S403I	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	403					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GCAATTGCTAGTACTCCAACT	0.338																																					p.S403I		.											.	NAA16-90	0			c.G1208T						.						78.0	78.0	78.0					13																	41932560		2203	4300	6503	SO:0001583	missense	79612	exon11			TTGCTAGTACTCC	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1208G>T	13.37:g.41932560G>T	ENSP00000368716:p.Ser403Ile	100	0		50	13	NM_001110798	0	0	0	0	0	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827040	0.50739	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.60424	0.92;0.92;0.19	4.82	4.82	0.62117	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	L	0.52126	1.63	0.58432	D	0.999999	P;D	0.52996	0.845;0.957	P;P	0.62298	0.857;0.9	T	0.62364	-0.6870	10	0.17832	T	0.49	-12.4899	17.8716	0.88813	0.0:0.0:1.0:0.0	.	403;403	Q6N069;Q6N069-4	NAA16_HUMAN;.	I	403	ENSP00000368674:S403I;ENSP00000368716:S403I;ENSP00000386103:S403I	ENSP00000368674:S403I	S	+	2	0	NAA16	40830560	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	7.350000	0.79385	2.205000	0.71048	0.484000	0.47621	AGT	.		0.338	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	
ENOX1	55068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	43896519	43896519	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:43896519C>A	ENST00000261488.6	-	11	1839		c.e11+1		ENOX1_ENST00000540032.1_Splice_Site|ENOX1_ENST00000412891.1_Splice_Site	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1						rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATCGGCATTACCTGATTCATC	0.428																																					.		.											.	ENOX1-92	0			c.1261+1G>T						.						173.0	160.0	165.0					13																	43896519		2203	4300	6503	SO:0001630	splice_region_variant	55068	exon12			GCATTACCTGATT	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1261+1G>T	13.37:g.43896519C>A		188	0		73	28	NM_001242863	0	0	0	0	0	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Splice_Site	SNP	ENST00000261488.6	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017373	0.75161	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0026	0.97425	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENOX1	42794519	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.172000	0.77604	2.722000	0.93159	0.650000	0.86243	.	.		0.428	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993	Intron
TSC22D1	8848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	45147767	45147767	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:45147767G>A	ENST00000458659.2	-	1	2934	c.2444C>T	c.(2443-2445)tCa>tTa	p.S815L	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	815	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S815*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CAACTGCTGTGAAACAATTCC	0.468																																					p.S815L		.											.	TSC22D1-90	1	Substitution - Nonsense(1)	urinary_tract(1)	c.C2444T						.						131.0	138.0	136.0					13																	45147767		2203	4300	6503	SO:0001583	missense	8848	exon1			TGCTGTGAAACAA	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2444C>T	13.37:g.45147767G>A	ENSP00000397435:p.Ser815Leu	171	0		86	28	NM_183422	0	0	0	0	0	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	7.330	0.618730	0.14129	.	.	ENSG00000102804	ENST00000458659	D	0.84223	-1.82	4.77	1.96	0.26148	.	0.887861	0.09470	N	0.797815	T	0.71476	0.3344	L	0.27053	0.805	0.09310	N	1	B	0.24186	0.099	B	0.14023	0.01	T	0.56571	-0.7957	10	0.29301	T	0.29	.	2.5326	0.04706	0.1724:0.2265:0.4746:0.1264	.	815	Q15714	T22D1_HUMAN	L	815	ENSP00000397435:S815L	ENSP00000397435:S815L	S	-	2	0	TSC22D1	44045767	0.005000	0.15991	0.233000	0.24025	0.741000	0.42261	1.760000	0.38430	0.619000	0.30197	0.462000	0.41574	TCA	.		0.468	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022	
LRCH1	23143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	47297444	47297444	+	Missense_Mutation	SNP	G	G	T	rs188820612		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:47297444G>T	ENST00000389798.3	+	16	1940	c.1743G>T	c.(1741-1743)gaG>gaT	p.E581D	LRCH1_ENST00000311191.6_Missense_Mutation_p.E581D|LRCH1_ENST00000389797.3_Missense_Mutation_p.E616D	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	581	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AAGAGAAAGAGCTGGTGGAAC	0.368																																					p.E616D		.											.	LRCH1-91	0			c.G1848T						.						81.0	83.0	83.0					13																	47297444		2203	4300	6503	SO:0001583	missense	23143	exon17			GAAAGAGCTGGTG	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1743G>T	13.37:g.47297444G>T	ENSP00000374448:p.Glu581Asp	62	0		30	11	NM_001164211	0	0	0	0	0	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018250	0.75275	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.58506	0.33;0.37;0.35	5.68	2.51	0.30379	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	M	0.63843	1.955	0.43242	D	0.995151	P;D;D	0.76494	0.712;0.999;0.999	B;D;D	0.81914	0.396;0.995;0.976	T	0.65162	-0.6235	10	0.33940	T	0.23	-8.0409	10.842	0.46722	0.1499:0.0:0.8501:0.0	.	581;616;581	Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;LRCH1_HUMAN	D	581;581;616	ENSP00000308493:E581D;ENSP00000374448:E581D;ENSP00000374447:E616D	ENSP00000308493:E581D	E	+	3	2	LRCH1	46195445	0.996000	0.38824	0.980000	0.43619	0.988000	0.76386	0.333000	0.19768	0.613000	0.30089	0.650000	0.86243	GAG	G|0.999;A|0.000		0.368	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116	
HTR2A	3356	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	47469863	47469863	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:47469863C>A	ENST00000378688.4	-	1	310	c.179G>T	c.(178-180)tGc>tTc	p.C60F	HTR2A_ENST00000542664.1_Missense_Mutation_p.C60F|HTR2A_ENST00000543956.1_Intron			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	60					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGGTGAGAGGCACCCTTCACA	0.433																																					p.C60F		.											.	HTR2A-519	0			c.G179T						.						121.0	117.0	118.0					13																	47469863		2203	4300	6503	SO:0001583	missense	3356	exon2			GAGAGGCACCCTT	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.179G>T	13.37:g.47469863C>A	ENSP00000367959:p.Cys60Phe	190	0		129	36	NM_000621	0	0	0	0	0	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	5.711	0.315717	0.10789	.	.	ENSG00000102468	ENST00000378688;ENST00000542664	T;T	0.35973	1.28;1.28	5.7	3.58	0.41010	.	0.377703	0.26234	N	0.025550	T	0.16727	0.0402	N	0.08118	0	0.27481	N	0.952574	B	0.14805	0.011	B	0.06405	0.002	T	0.14337	-1.0476	10	0.24483	T	0.36	.	7.7964	0.29150	0.0:0.6968:0.0:0.3032	.	60	P28223	5HT2A_HUMAN	F	60	ENSP00000367959:C60F;ENSP00000437737:C60F	ENSP00000367959:C60F	C	-	2	0	HTR2A	46367864	0.941000	0.31946	1.000000	0.80357	0.998000	0.95712	1.433000	0.34947	1.067000	0.40740	0.655000	0.94253	TGC	.		0.433	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621	
ITM2B	9445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	48830474	48830474	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:48830474G>T	ENST00000378565.5	+	3	611	c.408G>T	c.(406-408)gaG>gaT	p.E136D	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	136					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTGTCCCAGAGTTTGCAGATA	0.403																																					p.E136D		.											.	ITM2B-90	0			c.G408T						.						94.0	93.0	93.0					13																	48830474		2203	4300	6503	SO:0001583	missense	9445	exon3			CCCAGAGTTTGCA	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.408G>T	13.37:g.48830474G>T	ENSP00000367828:p.Glu136Asp	82	0		53	12	NM_021999	0	0	0	0	0	Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	ENST00000378565.5	37	CCDS9409.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776061	0.31411	.	.	ENSG00000136156	ENST00000378565	T	0.30714	1.52	5.76	1.94	0.25998	.	0.241233	0.48286	N	0.000193	T	0.18341	0.0440	L	0.47716	1.5	0.45621	D	0.998553	B	0.09022	0.002	B	0.10450	0.005	T	0.18999	-1.0319	10	0.02654	T	1	-0.2305	4.67	0.12683	0.3743:0.0:0.4842:0.1415	.	136	Q9Y287	ITM2B_HUMAN	D	136	ENSP00000367828:E136D	ENSP00000367828:E136D	E	+	3	2	ITM2B	47728475	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.556000	0.23438	0.304000	0.22809	0.650000	0.86243	GAG	.		0.403	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999	
ARL11	115761	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	50205070	50205070	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:50205070C>G	ENST00000282026.1	+	2	822	c.487C>G	c.(487-489)Ccc>Gcc	p.P163A	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	163					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GGAGGGGCTGCCCGAGGCCCT	0.622																																					p.P163A		.											.	ARL11-90	0			c.C487G						.						19.0	19.0	19.0					13																	50205070		2200	4292	6492	SO:0001583	missense	115761	exon2			GGGCTGCCCGAGG	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.487C>G	13.37:g.50205070C>G	ENSP00000282026:p.Pro163Ala	89	1		65	26	NM_138450	0	0	0	0	0		Missense_Mutation	SNP	ENST00000282026.1	37	CCDS9419.1	.	.	.	.	.	.	.	.	.	.	C	4.211	0.037892	0.08148	.	.	ENSG00000152213	ENST00000282026	D	0.81739	-1.53	5.42	0.117	0.14652	.	0.708059	0.13713	N	0.367950	T	0.54791	0.1880	N	0.04203	-0.255	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.48387	-0.9040	10	0.87932	D	0	-11.3061	2.1249	0.03736	0.12:0.432:0.1984:0.2496	.	163	Q969Q4	ARL11_HUMAN	A	163	ENSP00000282026:P163A	ENSP00000282026:P163A	P	+	1	0	ARL11	49103071	0.000000	0.05858	0.260000	0.24451	0.677000	0.39632	0.215000	0.17562	0.237000	0.21200	-0.126000	0.14955	CCC	.		0.622	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450	
DLEU7	220107	hgsc.bcm.edu	37	13	51417472	51417472	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:51417472G>A	ENST00000504404.1	-	1	360	c.311C>T	c.(310-312)cCc>cTc	p.P104L	DLEU7_ENST00000400393.3_Missense_Mutation_p.P104L|DLEU7-AS1_ENST00000413510.2_RNA			Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	104													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)		GCGGTCCCGGGGGAAGGGCAG	0.746																																					p.P104L		.											.	.	0			c.C311T						.						5.0	6.0	6.0					13																	51417472		1837	3870	5707	SO:0001583	missense	220107	exon1			TCCCGGGGGAAGG	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.311C>T	13.37:g.51417472G>A	ENSP00000427177:p.Pro104Leu	0	0		31	16	NM_198989	0	0	0	0	0	Q2M2E4|Q6ZT82	Missense_Mutation	SNP	ENST00000504404.1	37		.	.	.	.	.	.	.	.	.	.	G	9.943	1.218071	0.22373	.	.	ENSG00000186047	ENST00000400393;ENST00000504404;ENST00000335465	T;T	0.46063	0.88;0.91	3.82	3.82	0.43975	.	0.000000	0.46758	D	0.000268	T	0.33411	0.0862	L	0.54323	1.7	0.19300	N	0.999979	B;B	0.30851	0.035;0.297	B;B	0.23419	0.021;0.046	T	0.36672	-0.9738	10	0.72032	D	0.01	.	7.4657	0.27320	0.1195:0.0:0.8805:0.0	.	104;104	Q6UYE1;Q6UYE1-2	LEU7_HUMAN;.	L	104;104;57	ENSP00000420976:P104L;ENSP00000427177:P104L	ENSP00000439677:P57L	P	-	2	0	DLEU7	50315473	0.880000	0.30214	0.030000	0.17652	0.054000	0.15201	3.035000	0.49759	2.119000	0.64992	0.491000	0.48974	CCC	.		0.746	DLEU7-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045005.2	NM_198989	
DLEU7	220107	hgsc.bcm.edu	37	13	51417535	51417535	+	Missense_Mutation	SNP	G	G	A	rs898861	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:51417535G>A	ENST00000504404.1	-	1	297	c.248C>T	c.(247-249)gCg>gTg	p.A83V	DLEU7_ENST00000400393.3_Missense_Mutation_p.A83V|DLEU7-AS1_ENST00000413510.2_RNA			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		9	7	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	
PCDH8	5100	broad.mit.edu;bcgsc.ca	37	13	53420741	53420741	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:53420741G>T	ENST00000377942.3	-	1	2034	c.1831C>A	c.(1831-1833)Cac>Aac	p.H611N	PCDH8_ENST00000338862.4_Missense_Mutation_p.H611N	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	611					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGCGCCGGGTGCACCAGGACT	0.677																																					p.H611N	GBM(36;25 841 9273 49207)	.											.	PCDH8-153	0			c.C1831A						.						11.0	12.0	12.0					13																	53420741		2179	4268	6447	SO:0001583	missense	5100	exon1			CCGGGTGCACCAG	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1831C>A	13.37:g.53420741G>T	ENSP00000367177:p.His611Asn	84	1		102	28	NM_002590	0	0	0	0	0	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514341	0.27123	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.60424	0.19;0.19	4.01	4.01	0.46588	Cadherin-like (1);	0.152154	0.30356	N	0.009808	T	0.44008	0.1273	N	0.17872	0.535	0.50632	D	0.999888	B;B	0.19706	0.015;0.038	B;B	0.20955	0.018;0.032	T	0.35968	-0.9767	10	0.35671	T	0.21	.	16.3142	0.82909	0.0:0.0:1.0:0.0	.	611;611	O95206-2;O95206	.;PCDH8_HUMAN	N	611;611;137;454	ENSP00000367177:H611N;ENSP00000341350:H611N	ENSP00000341350:H611N	H	-	1	0	PCDH8	52318742	1.000000	0.71417	0.995000	0.50966	0.732000	0.41865	7.512000	0.81728	2.069000	0.61940	0.511000	0.50034	CAC	.		0.677	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590	
PCDH8	5100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	53422274	53422274	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:53422274G>T	ENST00000377942.3	-	1	501	c.298C>A	c.(298-300)Ccg>Acg	p.P100T	PCDH8_ENST00000338862.4_Missense_Mutation_p.P100T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		ACGCACTGCGGGGCCTGGCCA	0.682																																					p.P100T	GBM(36;25 841 9273 49207)	.											.	PCDH8-153	0			c.C298A						.						36.0	35.0	35.0					13																	53422274		2202	4297	6499	SO:0001583	missense	5100	exon1			ACTGCGGGGCCTG	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.298C>A	13.37:g.53422274G>T	ENSP00000367177:p.Pro100Thr	20	0		68	21	NM_002590	0	0	0	0	0	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556636	0.27827	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.26518	1.73;1.73	4.46	4.46	0.54185	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.40469	N	0.001090	T	0.39332	0.1074	L	0.46741	1.465	0.44207	D	0.997037	P;P	0.52316	0.941;0.952	P;D	0.63283	0.676;0.913	T	0.06954	-1.0798	10	0.45353	T	0.12	.	11.8548	0.52431	0.0839:0.0:0.916:0.0	.	100;100	O95206-2;O95206	.;PCDH8_HUMAN	T	100	ENSP00000367177:P100T;ENSP00000341350:P100T	ENSP00000341350:P100T	P	-	1	0	PCDH8	52320275	1.000000	0.71417	0.864000	0.33941	0.997000	0.91878	2.990000	0.49401	2.337000	0.79520	0.561000	0.74099	CCG	.		0.682	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590	
OLFM4	10562	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	53624443	53624443	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:53624443C>A	ENST00000219022.2	+	5	1148	c.1070C>A	c.(1069-1071)aCg>aAg	p.T357K		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	357	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACCACCAACACGATTGCTGTG	0.428																																					p.T357K		.											.	OLFM4-69	0			c.C1070A						.						190.0	177.0	181.0					13																	53624443		2203	4300	6503	SO:0001583	missense	10562	exon5			CCAACACGATTGC	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1070C>A	13.37:g.53624443C>A	ENSP00000219022:p.Thr357Lys	291	1		203	54	NM_006418	0	0	0	0	0	O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	C	5.515	0.280028	0.10458	.	.	ENSG00000102837	ENST00000219022	D	0.88896	-2.44	5.92	-11.8	0.00035	Olfactomedin-like (3);	1.724340	0.02322	N	0.073061	T	0.74359	0.3706	N	0.25485	0.75	0.09310	N	1	B	0.14012	0.009	B	0.19391	0.025	T	0.60831	-0.7185	10	0.02654	T	1	.	5.9875	0.19442	0.5014:0.1195:0.2822:0.097	.	357	Q6UX06	OLFM4_HUMAN	K	357	ENSP00000219022:T357K	ENSP00000219022:T357K	T	+	2	0	OLFM4	52522444	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-5.033000	0.00158	-3.615000	0.00132	-2.110000	0.00354	ACG	.		0.428	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418	
PCDH17	27253	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	58208469	58208469	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:58208469G>T	ENST00000377918.3	+	1	1815	c.1789G>T	c.(1789-1791)Gtg>Ttg	p.V597L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	597	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)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGAGCTGCAGGTGCCGCGCAA	0.652																																					p.V597L	Melanoma(72;952 1291 1619 12849 33676)	.											.	PCDH17-97	0			c.G1789T						.						31.0	30.0	31.0					13																	58208469		2202	4299	6501	SO:0001583	missense	27253	exon1			CTGCAGGTGCCGC	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1789G>T	13.37:g.58208469G>T	ENSP00000367151:p.Val597Leu	122	1		107	32	NM_001040429	0	0	0	0	0	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770562	0.49680	.	.	ENSG00000118946	ENST00000377918	T	0.55234	0.53	5.36	5.36	0.76844	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	N	0.21508	0.67	0.54753	D	0.999984	D;D	0.54601	0.959;0.967	P;P	0.62014	0.835;0.897	T	0.55192	-0.8179	9	.	.	.	.	19.0883	0.93215	0.0:0.0:1.0:0.0	.	597;597	O14917-2;O14917	.;PCD17_HUMAN	L	597	ENSP00000367151:V597L	.	V	+	1	0	PCDH17	57106470	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.876000	0.87215	2.500000	0.84329	0.561000	0.74099	GTG	.		0.652	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
PCDH17	27253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	58208760	58208760	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:58208760C>G	ENST00000377918.3	+	1	2106	c.2080C>G	c.(2080-2082)Cgg>Ggg	p.R694G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	694	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)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGGGGTACCACGGGTGAATGG	0.622																																					p.R694G	Melanoma(72;952 1291 1619 12849 33676)	.											.	PCDH17-97	0			c.C2080G						.						72.0	72.0	72.0					13																	58208760		2203	4300	6503	SO:0001583	missense	27253	exon1			GTACCACGGGTGA	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2080C>G	13.37:g.58208760C>G	ENSP00000367151:p.Arg694Gly	254	0		164	41	NM_001040429	0	0	0	0	0	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	8.450	0.852807	0.17106	.	.	ENSG00000118946	ENST00000377918	T	0.52983	0.64	5.32	5.32	0.75619	Cadherin (1);	0.166402	0.52532	D	0.000068	T	0.36663	0.0975	L	0.29908	0.895	0.46927	D	0.999259	B;B	0.23891	0.081;0.093	B;B	0.26693	0.072;0.02	T	0.13522	-1.0506	9	.	.	.	.	13.9235	0.63948	0.152:0.848:0.0:0.0	.	694;694	O14917-2;O14917	.;PCD17_HUMAN	G	694	ENSP00000367151:R694G	.	R	+	1	2	PCDH17	57106761	0.991000	0.36638	0.999000	0.59377	0.914000	0.54420	2.949000	0.49074	2.482000	0.83794	0.561000	0.74099	CGG	.		0.622	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
PCDH17	27253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	58240856	58240856	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:58240856G>T	ENST00000377918.3	+	3	2712	c.2686G>T	c.(2686-2688)Gat>Tat	p.D896Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	896					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGGGGACAGTGATCAGGCTGA	0.463																																					p.D896Y	Melanoma(72;952 1291 1619 12849 33676)	.											.	PCDH17-97	0			c.G2686T						.						96.0	92.0	93.0					13																	58240856		2203	4300	6503	SO:0001583	missense	27253	exon3			GACAGTGATCAGG	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2686G>T	13.37:g.58240856G>T	ENSP00000367151:p.Asp896Tyr	174	0		119	42	NM_001040429	0	0	0	0	0	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937384	0.73557	.	.	ENSG00000118946	ENST00000377918	T	0.58210	0.35	5.83	5.83	0.93111	.	0.042806	0.85682	D	0.000000	T	0.71813	0.3384	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68303	-0.5444	9	.	.	.	.	20.115	0.97926	0.0:0.0:1.0:0.0	.	896	O14917	PCD17_HUMAN	Y	896	ENSP00000367151:D896Y	.	D	+	1	0	PCDH17	57138857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.761000	0.94854	0.650000	0.86243	GAT	.		0.463	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
PCDH9	5101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	67205483	67205483	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:67205483C>A	ENST00000377865.2	-	3	3333	c.3199G>T	c.(3199-3201)Ggt>Tgt	p.G1067C	PCDH9_ENST00000456367.1_Missense_Mutation_p.G1033C|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1033C|PCDH9_ENST00000544246.1_Missense_Mutation_p.G1067C|RNU7-87P_ENST00000459343.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1067					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTCCTAGACCACTGTCACTG	0.547																																					p.G1067C		.											.	PCDH9-96	0			c.G3199T						.						109.0	94.0	99.0					13																	67205483		2203	4300	6503	SO:0001583	missense	5101	exon4			CTAGACCACTGTC	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3199G>T	13.37:g.67205483C>A	ENSP00000367096:p.Gly1067Cys	129	0		64	17	NM_203487	0	0	0	0	0	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916968	0.92249	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.70164	-0.46;-0.46;-0.14;-0.14	5.63	5.63	0.86233	.	0.000000	0.45361	D	0.000371	T	0.80747	0.4682	M	0.62723	1.935	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.947	T	0.81355	-0.0970	10	0.66056	D	0.02	.	19.6801	0.95958	0.0:1.0:0.0:0.0	.	1033;1067	Q9HC56-2;Q9HC56	.;PCDH9_HUMAN	C	1067;1067;1033;1033	ENSP00000442186:G1067C;ENSP00000367096:G1067C;ENSP00000401699:G1033C;ENSP00000332060:G1033C	ENSP00000332060:G1033C	G	-	1	0	PCDH9	66103484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.652000	0.90054	0.655000	0.94253	GGT	.		0.547	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
KLHL1	57626	bcgsc.ca	37	13	70681347	70681347	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:70681347delC	ENST00000377844.4	-	1	1244	c.485delG	c.(484-486)ggafs	p.G162fs	ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_Frame_Shift_Del_p.G30fs	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	162					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.G162A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTGTCCACATCCTTCACCTGT	0.517																																					p.G162fs		.											.	KLHL1-90	1	Substitution - Missense(1)	lung(1)	c.485delG						.						127.0	105.0	113.0					13																	70681347		2203	4300	6503	SO:0001589	frameshift_variant	57626	exon1			CCACATCCTTCAC	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.485delG	13.37:g.70681347delC	ENSP00000367075:p.Gly162fs	175	1		147	43	NM_020866	0	0	0	0	0	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Frame_Shift_Del	DEL	ENST00000377844.4	37	CCDS9445.1																																																																																			.		0.517	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
KLHL1	57626	hgsc.bcm.edu	37	13	70681348	70681349	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:70681348_70681349delCT	ENST00000377844.4	-	1	1242_1243	c.483_484delAG	c.(481-486)gaaggafs	p.G162fs	ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_Frame_Shift_Del_p.G30fs	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	162					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTCCACATCCTTCACCTGTTG	0.52																																					p.161_162del		.											.	KLHL1-90	0			c.483_484del						.																																			SO:0001589	frameshift_variant	57626	exon1			CACATCCTTCACC	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.483_484delAG	13.37:g.70681348_70681349delCT	ENSP00000367075:p.Gly162fs	174	0		148	0	NM_020866	0	0	0	0	0	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Frame_Shift_Del	DEL	ENST00000377844.4	37	CCDS9445.1																																																																																			.		0.520	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
KLHL1	57626	bcgsc.ca	37	13	70681349	70681349	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:70681349T>A	ENST00000377844.4	-	1	1242	c.483A>T	c.(481-483)gaA>gaT	p.E161D	ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_Missense_Mutation_p.E29D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	161					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTCCACATCCTTCACCTGTTG	0.522																																					p.E161D		.											.	KLHL1-90	0			c.A483T						.						128.0	106.0	114.0					13																	70681349		2203	4300	6503	SO:0001583	missense	57626	exon1			ACATCCTTCACCT	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.483A>T	13.37:g.70681349T>A	ENSP00000367075:p.Glu161Asp	175	1		147	43	NM_020866	0	0	0	0	0	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384638	0.42308	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.70749	-0.51;-0.49	5.5	4.29	0.51040	.	0.589378	0.16278	N	0.221467	T	0.50377	0.1612	N	0.21373	0.66	0.21627	N	0.999613	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.32079	-0.9920	10	0.11182	T	0.66	.	6.4386	0.21837	0.1482:0.0:0.1766:0.6752	.	161;161	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	D	161;29	ENSP00000367075:E161D;ENSP00000439602:E29D	ENSP00000367075:E161D	E	-	3	2	KLHL1	69579350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.954000	0.40362	0.875000	0.35847	0.533000	0.62120	GAA	.		0.522	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
TBC1D4	9882	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	75915278	75915278	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:75915278T>C	ENST00000377636.3	-	7	1940	c.1594A>G	c.(1594-1596)Atc>Gtc	p.I532V	TBC1D4_ENST00000377625.2_Missense_Mutation_p.I532V|TBC1D4_ENST00000431480.2_Missense_Mutation_p.I532V|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	532					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCTTCCCCGATGTGCACGTGT	0.413																																					p.I532V		.											.	TBC1D4-95	0			c.A1594G						.						134.0	131.0	132.0					13																	75915278		2009	4176	6185	SO:0001583	missense	9882	exon7			CCCCGATGTGCAC	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1594A>G	13.37:g.75915278T>C	ENSP00000366863:p.Ile532Val	133	0		106	28	NM_014832	0	0	0	0	0	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.836078	0.32421	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.23348	4.01;4.01;4.02;1.91	5.07	3.86	0.44501	.	0.102476	0.39687	N	0.001299	T	0.25938	0.0632	M	0.61703	1.905	0.80722	D	1	B;B;B	0.23249	0.082;0.01;0.006	B;B;B	0.22753	0.041;0.016;0.012	T	0.03840	-1.0999	10	0.22109	T	0.4	-5.7224	12.1997	0.54317	0.0:0.0:0.1429:0.8571	.	532;532;532	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	V	532;532;532;44	ENSP00000366863:I532V;ENSP00000395986:I532V;ENSP00000366852:I532V;ENSP00000396932:I44V	ENSP00000366852:I532V	I	-	1	0	TBC1D4	74813279	1.000000	0.71417	0.053000	0.19242	0.197000	0.23852	5.822000	0.69265	0.856000	0.35383	0.528000	0.53228	ATC	.		0.413	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
IRG1	730249	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	13	77531719	77531719	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:77531719G>T	ENST00000377462.1	+	5	1107	c.1045G>T	c.(1045-1047)Gtc>Ttc	p.V349F	IRG1_ENST00000449753.1_Missense_Mutation_p.V349F	NM_001258406.1	NP_001245335.1	A6NK06	IRG1_HUMAN	immunoresponsive 1 homolog (mouse)	349					cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to progesterone stimulus (GO:0071393)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of type I interferon production (GO:0032480)|positive regulation of antimicrobial humoral response (GO:0002760)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|propionate catabolic process (GO:0019543)|tolerance induction to lipopolysaccharide (GO:0072573)	mitochondrion (GO:0005739)	2-methylcitrate dehydratase activity (GO:0047547)|aconitate decarboxylase activity (GO:0047613)										TGGCATCACTGTCCCCTCATT	0.527																																					p.V345F		.											.	.	0			c.G1033T						.																																			SO:0001583	missense	730249	exon4			ATCACTGTCCCCT		CCDS58299.1	13q22.3	2013-04-29			ENSG00000102794	ENSG00000102794			33904	protein-coding gene	gene with protein product		615275				23610393	Standard	NM_001258406		Approved		uc031qmi.1	A6NK06	OTTHUMG00000017098	ENST00000377462.1:c.1045G>T	13.37:g.77531719G>T	ENSP00000366682:p.Val349Phe	78	0		73	17	NM_001258406	0	0	0	0	0		Missense_Mutation	SNP	ENST00000377462.1	37	CCDS58299.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596600	0.28445	.	.	ENSG00000102794	ENST00000377462;ENST00000449753	.	.	.	5.91	3.26	0.37387	.	0.275169	0.40728	N	0.001031	T	0.54663	0.1872	M	0.72894	2.215	0.19575	N	0.999969	.	.	.	.	.	.	T	0.48758	-0.9007	7	0.49607	T	0.09	-12.486	10.6742	0.45776	0.263:0.0:0.737:0.0	.	.	.	.	F	349	.	ENSP00000366682:V349F	V	+	1	0	IRG1	76429720	0.998000	0.40836	0.002000	0.10522	0.009000	0.06853	2.707000	0.47143	0.413000	0.25759	0.655000	0.94253	GTC	.		0.527	IRG1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045311.1	XM_001133269	
MYCBP2	23077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	77870754	77870754	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:77870754T>C	ENST00000544440.2	-	2	261	c.244A>G	c.(244-246)Aaa>Gaa	p.K82E	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.K120E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K82E					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTCTTCACTTTTGATTTGCTC	0.249																																					p.K120E		.											.	MYCBP2-236	0			c.A358G						.						168.0	146.0	153.0					13																	77870754		2202	4298	6500	SO:0001583	missense	23077	exon2			TCACTTTTGATTT	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.244A>G	13.37:g.77870754T>C	ENSP00000444596:p.Lys82Glu	22	0		13	4	NM_015057	0	0	0	0	0		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	T	21.8	4.209179	0.79240	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32272	1.47;1.46;1.47	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.47469	0.1447	L	0.47716	1.5	0.45962	D	0.998785	P	0.52842	0.956	D	0.65010	0.931	T	0.41395	-0.9511	10	0.56958	D	0.05	.	14.796	0.69878	0.0:0.0:0.0:1.0	.	82	O75592	MYCB2_HUMAN	E	82;120;82	ENSP00000349892:K82E;ENSP00000384288:K120E;ENSP00000444596:K82E	ENSP00000349892:K82E	K	-	1	0	MYCBP2	76768755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.075000	0.71261	2.234000	0.73211	0.472000	0.43445	AAA	.		0.249	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
EDNRB	1910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	78492683	78492683	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:78492683C>G	ENST00000334286.5	-	1	262	c.26G>C	c.(25-27)gGa>gCa	p.G9A	EDNRB_ENST00000377211.4_Missense_Mutation_p.G99A|EDNRB_ENST00000446573.1_Missense_Mutation_p.G9A|EDNRB_ENST00000475537.1_5'UTR|RNF219-AS1_ENST00000607862.1_RNA	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	9					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CAGGGCGCGTCCGCACAGACT	0.642											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G99A		.											.	EDNRB-522	0			c.G296C						.						26.0	30.0	29.0					13																	78492683		2203	4300	6503	SO:0001583	missense	1910	exon2			GCGCGTCCGCACA	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.26G>C	13.37:g.78492683C>G	ENSP00000335311:p.Gly9Ala	93	0	1183	79	24	NM_001201397	0	0	0	0	0	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038840	0.35989	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.74106	-0.81;-0.43;-0.54	4.31	2.51	0.30379	.	1.121610	0.06825	N	0.792914	T	0.68504	0.3008	L	0.51422	1.61	0.09310	N	1	B;B;B	0.22683	0.073;0.001;0.001	B;B;B	0.25291	0.059;0.002;0.002	T	0.54622	-0.8266	10	0.37606	T	0.19	0.0726	6.8585	0.24054	0.2003:0.6059:0.1938:0.0	.	9;99;9	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	A	99;9;9	ENSP00000366416:G99A;ENSP00000403401:G9A;ENSP00000335311:G9A	ENSP00000335311:G9A	G	-	2	0	EDNRB	77390684	0.001000	0.12720	0.312000	0.25196	0.967000	0.64934	0.501000	0.22578	0.522000	0.28464	0.591000	0.81541	GGA	.		0.642	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
POU4F1	5457	bcgsc.ca;mdanderson.org	37	13	79176516	79176516	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:79176516C>A	ENST00000377208.5	-	2	505	c.294G>T	c.(292-294)ctG>ctT	p.L98L	RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	98					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		ggtggtgCGCCAGAGGCACCG	0.672																																					p.L98L	Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	.											.	POU4F1-515	0			c.G294T						.						33.0	19.0	24.0					13																	79176516		2170	4258	6428	SO:0001819	synonymous_variant	5457	exon2			GTGCGCCAGAGGC	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.294G>T	13.37:g.79176516C>A		39	1		54	21	NM_006237	0	0	0	0	0	Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	CCDS31996.1																																																																																			.		0.672	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3		
RNF219	79596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	79191112	79191112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:79191112C>A	ENST00000282003.6	-	6	842	c.784G>T	c.(784-786)Gaa>Taa	p.E262*	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	262							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCTTTCTCTTCACTTGAATTT	0.433																																					p.E262X		.											.	RNF219-135	0			c.G784T						.						113.0	110.0	111.0					13																	79191112		2203	4300	6503	SO:0001587	stop_gained	79596	exon6			TCTCTTCACTTGA	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.784G>T	13.37:g.79191112C>A	ENSP00000282003:p.Glu262*	107	0		73	18	NM_024546	0	0	0	0	0	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Nonsense_Mutation	SNP	ENST00000282003.6	37	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157082	0.57259	.	.	ENSG00000152193	ENST00000282003	.	.	.	6.17	5.33	0.75918	.	0.295163	0.32608	N	0.005877	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.7487	13.4238	0.61013	0.0:0.8707:0.0:0.1293	.	.	.	.	X	262	.	ENSP00000282003:E262X	E	-	1	0	RNF219	78089113	0.967000	0.33354	0.983000	0.44433	0.638000	0.38207	3.013000	0.49582	1.632000	0.50472	-0.140000	0.14226	GAA	.		0.433	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546	
SLITRK1	114798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	84455469	84455469	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:84455469G>T	ENST00000377084.2	-	1	1059	c.174C>A	c.(172-174)tcC>tcA	p.S58S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	58					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGTAAAACTGGGAAGTCGGGG	0.433																																					p.S58S		.											.	SLITRK1-94	0			c.C174A						.						77.0	78.0	78.0					13																	84455469		2203	4300	6503	SO:0001819	synonymous_variant	114798	exon1			AAACTGGGAAGTC	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.174C>A	13.37:g.84455469G>T		70	0		37	9	NM_052910	0	0	0	0	0	Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	CCDS9464.1																																																																																			.		0.433	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
SLITRK6	84189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	86368998	86368998	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:86368998G>T	ENST00000400286.2	-	2	2244	c.1646C>A	c.(1645-1647)cCc>cAc	p.P549H		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	549	LRRCT 2.				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)		GAGATGCCCGGGGGAAGTGCA	0.458																																					p.P549H		.											.	SLITRK6-137	0			c.C1646A						.						88.0	88.0	88.0					13																	86368998		1943	4137	6080	SO:0001583	missense	84189	exon2			TGCCCGGGGGAAG	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.1646C>A	13.37:g.86368998G>T	ENSP00000383143:p.Pro549His	132	0		84	14	NM_032229	0	0	0	0	0	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106379	0.37145	.	.	ENSG00000184564	ENST00000400286	T	0.03745	3.82	5.72	5.72	0.89469	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	U	0.000002	T	0.28300	0.0699	H	0.96943	3.91	0.80722	D	1	D	0.71674	0.998	P	0.59487	0.858	T	0.46512	-0.9186	10	0.87932	D	0	-10.0904	18.4428	0.90673	0.0:0.0:1.0:0.0	.	549	Q9H5Y7	SLIK6_HUMAN	H	549	ENSP00000383143:P549H	ENSP00000383143:P549H	P	-	2	0	SLITRK6	85266999	1.000000	0.71417	0.363000	0.25875	0.112000	0.19704	9.869000	0.99810	2.695000	0.91970	0.655000	0.94253	CCC	.		0.458	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
GPC5	2262	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	13	92051320	92051320	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:92051320C>A	ENST00000377067.3	+	1	392	c.20C>A	c.(19-21)cCc>cAc	p.P7H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	7					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGACCTGGCCCGTGGGCTTT	0.672																																					p.P7H		.											.	GPC5-519	0			c.C20A						.						30.0	28.0	29.0					13																	92051320		2175	4272	6447	SO:0001583	missense	2262	exon1			CCTGGCCCGTGGG	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.20C>A	13.37:g.92051320C>A	ENSP00000366267:p.Pro7His	100	0		115	26	NM_004466	0	0	0	0	0	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053458	0.19907	.	.	ENSG00000179399	ENST00000377067	T	0.41758	0.99	4.0	1.99	0.26369	.	0.494624	0.17935	N	0.157028	T	0.23014	0.0556	N	0.08118	0	0.22292	N	0.999221	B	0.32693	0.38	B	0.34991	0.193	T	0.17561	-1.0365	10	0.44086	T	0.13	.	9.9192	0.41453	0.0:0.5083:0.4917:0.0	.	7	P78333	GPC5_HUMAN	H	7	ENSP00000366267:P7H	ENSP00000366267:P7H	P	+	2	0	GPC5	90849321	0.841000	0.29509	0.889000	0.34880	0.262000	0.26303	0.935000	0.28924	0.900000	0.36469	0.471000	0.43371	CCC	.		0.672	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466	
GPC5	2262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	92345810	92345810	+	Missense_Mutation	SNP	G	G	T	rs372954675		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:92345810G>T	ENST00000377067.3	+	3	1067	c.695G>T	c.(694-696)gGc>gTc	p.G232V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	232					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTCAATCTGGGCATTGAAGTC	0.542																																					p.G232V		.											.	GPC5-519	0			c.G695T						.	G	VAL/GLY	0,4406		0,0,2203	52.0	46.0	48.0		695	3.7	1.0	13		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPC5	NM_004466.4	109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	232/573	92345810	1,13005	2203	4300	6503	SO:0001583	missense	2262	exon3			ATCTGGGCATTGA	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.695G>T	13.37:g.92345810G>T	ENSP00000366267:p.Gly232Val	125	0		70	21	NM_004466	0	0	0	0	0	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446914	0.63178	0.0	1.16E-4	ENSG00000179399	ENST00000377067	T	0.56776	0.44	5.49	3.69	0.42338	.	0.103413	0.64402	D	0.000003	T	0.72463	0.3463	M	0.79805	2.47	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.75625	-0.3253	10	0.56958	D	0.05	.	15.2385	0.73450	0.0:0.2308:0.7692:0.0	.	232	P78333	GPC5_HUMAN	V	232	ENSP00000366267:G232V	ENSP00000366267:G232V	G	+	2	0	GPC5	91143811	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.935000	0.87658	0.623000	0.30267	0.591000	0.81541	GGC	.		0.542	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466	
DCT	1638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	95121092	95121092	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:95121092C>A	ENST00000377028.5	-	2	916	c.503G>T	c.(502-504)gGg>gTg	p.G168V	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Missense_Mutation_p.G168V	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	168					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCCATTGGGCCCAAGCAGGCC	0.488																																					p.G168V		.											.	DCT-94	0			c.G503T						.						163.0	165.0	164.0					13																	95121092		2203	4300	6503	SO:0001583	missense	1638	exon2			TTGGGCCCAAGCA	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.503G>T	13.37:g.95121092C>A	ENSP00000366227:p.Gly168Val	101	0		69	17	NM_001129889	0	0	0	0	0	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792062	0.90453	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.85955	-2.05;-2.05	5.69	5.69	0.88448	Uncharacterised domain, di-copper centre (2);	0.045544	0.85682	D	0.000000	D	0.93903	0.8049	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93958	0.7238	9	.	.	.	-21.8694	19.8199	0.96589	0.0:1.0:0.0:0.0	.	168;168	Q09GT4;P40126	.;TYRP2_HUMAN	V	168	ENSP00000366227:G168V;ENSP00000392762:G168V	.	G	-	2	0	DCT	93919093	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	5.783000	0.68982	2.677000	0.91161	0.655000	0.94253	GGG	.		0.488	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
HS6ST3	266722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	96743551	96743551	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:96743551C>G	ENST00000376705.2	+	1	459	c.435C>G	c.(433-435)cgC>cgG	p.R145R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	145					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCAAAGGGCGCGACGTGATCG	0.612																																					p.R145R		.											.	HS6ST3-92	0			c.C435G						.						36.0	37.0	37.0					13																	96743551		2203	4300	6503	SO:0001819	synonymous_variant	266722	exon1			AGGGCGCGACGTG	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.435C>G	13.37:g.96743551C>G		183	0		122	38	NM_153456	0	0	0	0	0	Q5W0L0|Q68CW6	Silent	SNP	ENST00000376705.2	37	CCDS9481.1																																																																																			.		0.612	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456	
GPR183	1880	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	99948095	99948095	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:99948095G>C	ENST00000376414.4	-	2	388	c.305C>G	c.(304-306)gCc>gGc	p.A102G	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	102					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CCTACACAAGGCATCTCCGAT	0.428																																					p.A102G		.											.	GPR183-522	0			c.C305G						.						149.0	125.0	133.0					13																	99948095		2203	4300	6503	SO:0001583	missense	1880	exon2			CACAAGGCATCTC	L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.305C>G	13.37:g.99948095G>C	ENSP00000365596:p.Ala102Gly	218	2		129	37	NM_004951	0	0	0	0	0	B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	ENST00000376414.4	37	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	G	7.634	0.679402	0.14907	.	.	ENSG00000169508	ENST00000376414	T	0.73897	-0.79	5.81	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.242636	0.40728	N	0.001023	T	0.57417	0.2052	N	0.17312	0.475	0.21105	N	0.999787	B	0.12013	0.005	B	0.14023	0.01	T	0.40021	-0.9585	9	.	.	.	.	13.3187	0.60421	0.0676:0.1225:0.8098:0.0	.	102	P32249	GP183_HUMAN	G	102	ENSP00000365596:A102G	.	A	-	2	0	GPR183	98746096	0.980000	0.34600	0.652000	0.29579	0.582000	0.36321	3.073000	0.50057	1.459000	0.47892	0.655000	0.94253	GCC	.		0.428	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045582.2	NM_004951	
NALCN	259232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	101736110	101736110	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:101736110T>G	ENST00000251127.6	-	31	3616	c.3535A>C	c.(3535-3537)Aag>Cag	p.K1179Q		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1179					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTCGGCTCTTCAGGTCTTCC	0.502																																					p.K1179Q		.											.	NALCN-167	0			c.A3535C						.						76.0	74.0	75.0					13																	101736110		2203	4300	6503	SO:0001583	missense	259232	exon31			GGCTCTTCAGGTC	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3535A>C	13.37:g.101736110T>G	ENSP00000251127:p.Lys1179Gln	73	0		30	7	NM_052867	0	0	0	0	0	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222512	0.79464	.	.	ENSG00000102452	ENST00000251127	D	0.97752	-4.52	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	M	0.64170	1.965	0.80722	D	1	P	0.39094	0.659	P	0.48654	0.585	D	0.97769	1.0225	10	0.59425	D	0.04	.	13.6686	0.62412	0.0:0.0:0.0:1.0	.	1179	Q8IZF0	NALCN_HUMAN	Q	1179	ENSP00000251127:K1179Q	ENSP00000251127:K1179Q	K	-	1	0	NALCN	100534111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	1.977000	0.57605	0.528000	0.53228	AAG	.		0.502	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NALCN	259232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	101755576	101755576	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:101755576G>T	ENST00000251127.6	-	26	3085	c.3004C>A	c.(3004-3006)Cag>Aag	p.Q1002K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1002					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCCTCATCTGGGGCACCAGT	0.453																																					p.Q1002K		.											.	NALCN-167	0			c.C3004A						.						102.0	104.0	103.0					13																	101755576		2203	4300	6503	SO:0001583	missense	259232	exon26			TCATCTGGGGCAC	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3004C>A	13.37:g.101755576G>T	ENSP00000251127:p.Gln1002Lys	65	0		51	16	NM_052867	0	0	0	0	0	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264963	0.40095	.	.	ENSG00000102452	ENST00000251127	D	0.98280	-4.84	5.03	5.03	0.67393	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92034	0.7476	N	0.02011	-0.69	0.80722	D	1	B	0.20887	0.049	B	0.22880	0.042	D	0.89235	0.3580	10	0.02654	T	1	.	18.7562	0.91833	0.0:0.0:1.0:0.0	.	1002	Q8IZF0	NALCN_HUMAN	K	1002	ENSP00000251127:Q1002K	ENSP00000251127:Q1002K	Q	-	1	0	NALCN	100553577	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.287000	0.95975	2.488000	0.83962	0.650000	0.86243	CAG	.		0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NALCN	259232	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	101757250	101757250	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:101757250T>A	ENST00000251127.6	-	23	2712	c.2631A>T	c.(2629-2631)caA>caT	p.Q877H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	877					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTACTAAAGTTGATGGTACT	0.313																																					p.Q877H		.											.	NALCN-167	0			c.A2631T						.						172.0	177.0	176.0					13																	101757250		2203	4300	6503	SO:0001583	missense	259232	exon23			CTAAAGTTGATGG	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2631A>T	13.37:g.101757250T>A	ENSP00000251127:p.Gln877His	95	1		87	31	NM_052867	0	0	0	0	0	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945749	0.73672	.	.	ENSG00000102452	ENST00000251127	D	0.97688	-4.49	5.85	0.614	0.17603	.	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	P	0.55749	0.783	D	0.94171	0.7423	10	0.66056	D	0.02	.	10.6589	0.45690	0.0:0.343:0.0:0.657	.	877	Q8IZF0	NALCN_HUMAN	H	877	ENSP00000251127:Q877H	ENSP00000251127:Q877H	Q	-	3	2	NALCN	100555251	0.970000	0.33590	1.000000	0.80357	0.993000	0.82548	0.118000	0.15605	0.140000	0.18849	0.533000	0.62120	CAA	.		0.313	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NALCN	259232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	102029346	102029346	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:102029346C>A	ENST00000251127.6	-	5	518	c.437G>T	c.(436-438)cGg>cTg	p.R146L	NALCN_ENST00000376200.5_Missense_Mutation_p.R146L|NALCN_ENST00000376196.3_Missense_Mutation_p.R146L|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	146					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATCAGTGGCCGTGGAATCCG	0.398																																					p.R146L		.											.	NALCN-167	0			c.G437T						.						74.0	73.0	74.0					13																	102029346		2203	4300	6503	SO:0001583	missense	259232	exon5			AGTGGCCGTGGAA	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.437G>T	13.37:g.102029346C>A	ENSP00000251127:p.Arg146Leu	103	0		91	19	NM_052867	0	0	0	0	0	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309632	0.81247	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98437	-4.93;-4.93;-4.93	4.92	4.92	0.64577	Ion transport (1);	0.070386	0.64402	D	0.000020	D	0.99242	0.9736	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99069	1.0833	10	0.87932	D	0	.	18.1641	0.89719	0.0:1.0:0.0:0.0	.	146;146	F2Z323;Q8IZF0	.;NALCN_HUMAN	L	146	ENSP00000251127:R146L;ENSP00000365367:R146L;ENSP00000365373:R146L	ENSP00000251127:R146L	R	-	2	0	NALCN	100827347	1.000000	0.71417	0.998000	0.56505	0.585000	0.36419	7.487000	0.81328	2.283000	0.76528	0.650000	0.86243	CGG	.		0.398	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
TPP2	7174	bcgsc.ca	37	13	103268776	103268776	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:103268776G>T	ENST00000376065.4	+	4	457	c.421G>T	c.(421-423)Gtt>Ttt	p.V141F	TPP2_ENST00000376052.3_Missense_Mutation_p.V141F	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	141	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGGGACCCTGTTCACAGAGT	0.408																																					p.V141F		.											.	TPP2-92	0			c.G421T						.						94.0	102.0	99.0					13																	103268776		2203	4300	6503	SO:0001583	missense	7174	exon4			GACCCTGTTCACA	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.421G>T	13.37:g.103268776G>T	ENSP00000365233:p.Val141Phe	48	0		46	4	NM_003291	0	0	0	0	0	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	6.718	0.501170	0.12822	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.64	4.79	0.61399	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.472269	0.22995	N	0.053146	T	0.21761	0.0524	N	0.14661	0.345	0.27787	N	0.942964	B	0.11235	0.004	B	0.10450	0.005	T	0.20538	-1.0272	9	0.10111	T	0.7	.	7.5128	0.27583	0.1479:0.1372:0.7149:0.0	.	141	P29144	TPP2_HUMAN	F	141	.	ENSP00000365220:V141F	V	+	1	0	TPP2	102066777	0.584000	0.26766	1.000000	0.80357	0.967000	0.64934	0.217000	0.17603	1.494000	0.48533	0.650000	0.86243	GTT	.		0.408	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
CCDC168	643677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	103388356	103388356	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:103388356G>T	ENST00000322527.2	-	1	803	c.804C>A	c.(802-804)ccC>ccA	p.P268P		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	268																	GTATCCTTTTGGGGAGTATTC	0.418																																					p.P4897P		.											.	.	0			c.C14691A						.						197.0	169.0	178.0					13																	103388356		692	1591	2283	SO:0001819	synonymous_variant	643677	exon4			CCTTTTGGGGAGT		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.804C>A	13.37:g.103388356G>T		83	0		68	20	NM_001146197	0	0	0	0	0	Q8N800	Silent	SNP	ENST00000322527.2	37																																																																																				.		0.418	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001146197	
CCDC168	643677	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	103388670	103388670	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:103388670G>T	ENST00000322527.2	-	1	489	c.490C>A	c.(490-492)Cac>Aac	p.H164N		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	164																	AGAGGACTGTGCTCAGTGATG	0.507																																					p.H4793N		.											.	.	0			c.C14377A						.						181.0	147.0	157.0					13																	103388670		692	1591	2283	SO:0001583	missense	643677	exon4			GACTGTGCTCAGT		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.490C>A	13.37:g.103388670G>T	ENSP00000320232:p.His164Asn	219	1		145	39	NM_001146197	0	0	0	0	0	Q8N800	Missense_Mutation	SNP	ENST00000322527.2	37		.	.	.	.	.	.	.	.	.	.	G	11.56	1.673795	0.29693	.	.	ENSG00000175820	ENST00000322527	T	0.04454	3.62	3.63	0.891	0.19224	.	0.844820	0.09897	N	0.741593	T	0.06872	0.0175	L	0.56769	1.78	0.09310	N	1	P	0.46512	0.879	P	0.45449	0.481	T	0.31833	-0.9929	10	0.62326	D	0.03	.	1.8694	0.03205	0.1236:0.2474:0.4429:0.1861	.	164	Q8NDH2	CC168_HUMAN	N	164	ENSP00000320232:H164N	ENSP00000320232:H164N	H	-	1	0	CCDC168	102186671	0.000000	0.05858	0.001000	0.08648	0.643000	0.38383	-0.279000	0.08479	0.133000	0.18654	0.467000	0.42956	CAC	.		0.507	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001146197	
CCDC168	643677	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	13	103391132	103391132	+	5'Flank	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:103391132G>T	ENST00000322527.2	-	0	0					NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168																		GGAAGCAAAAGGTTTGCTCCA	0.373																																					p.P3972H		.											.	.	0			c.C11915A						.						158.0	129.0	138.0					13																	103391132		692	1591	2283	SO:0001631	upstream_gene_variant	643677	exon4			GCAAAAGGTTTGC		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		13.37:g.103391132G>T	Exception_encountered	65	0		24	4	NM_001146197	0	0	0	0	0	Q8N800	Missense_Mutation	SNP	ENST00000322527.2	37																																																																																				.		0.373	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001146197	
LINC00283	100874057	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	13	103398334	103398334	+	RNA	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:103398334G>A	ENST00000430111.1	+	0	3894									long intergenic non-protein coding RNA 283																		TGAGTATTAAGCCATCGCTGT	0.408																																					p.G1571G		.											.	.	0			c.C4713T						.						245.0	200.0	213.0					13																	103398334		692	1590	2282			643677	exon4			TATTAAGCCATCG			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.103398334G>A		118	0		87	12	NM_001146197	0	0	0	0	0		Silent	SNP	ENST00000430111.1	37																																																																																				.		0.408	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000045714.1		
SLC10A2	6555	ucsc.edu;bcgsc.ca	37	13	103701772	103701772	+	Silent	SNP	C	C	T	rs201412654		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:103701772C>T	ENST00000245312.3	-	5	1382	c.786G>A	c.(784-786)acG>acA	p.T262T		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	262			T -> M (in PBAM; abolishes taurocholate transport; dbSNP:rs72547505). {ECO:0000269|PubMed:9109432}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TCTGCATCCCCGTTTCAAAAG	0.418																																					p.T262T		.											.	SLC10A2-94	0			c.G786A						.						124.0	94.0	104.0					13																	103701772		2203	4300	6503	SO:0001819	synonymous_variant	6555	exon5			CATCCCCGTTTCA	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.786G>A	13.37:g.103701772C>T		132	2		80	17	NM_000452	0	0	0	0	0	A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	CCDS9506.1																																																																																			.		0.418	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1		
COL4A1	1282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	110850953	110850953	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:110850953A>G	ENST00000375820.4	-	21	1267	c.1146T>C	c.(1144-1146)ggT>ggC	p.G382G	COL4A1_ENST00000543140.1_Silent_p.G382G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	382	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCCAGGGGCACCAGCCTGCC	0.552																																					p.G382G		.											.	COL4A1-654	0			c.T1146C						.						66.0	63.0	64.0					13																	110850953		2203	4300	6503	SO:0001819	synonymous_variant	1282	exon21			AGGGGCACCAGCC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1146T>C	13.37:g.110850953A>G		67	0		38	12	NM_001845	0	0	0	0	0	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	CCDS9511.1																																																																																			.		0.552	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
ING1	3621	hgsc.bcm.edu	37	13	111368316	111368316	+	Silent	SNP	C	C	T	rs9555726	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	ING1_ENST00000333219.7_Intron|ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14.0	24.0	21.0		526,,,	-5.6	0.0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		0	0		7	7	NM_005537	0	0	0	0	0	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537	
ATP11A	23250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	113508734	113508734	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:113508734G>C	ENST00000487903.1	+	19	2221	c.2133G>C	c.(2131-2133)ctG>ctC	p.L711L	ATP11A_ENST00000375645.3_Silent_p.L711L|ATP11A_ENST00000375630.2_Silent_p.L711L|ATP11A_ENST00000283558.8_Silent_p.L711L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	711					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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_lung(25;0.134)|all_epithelial(44;0.141)				CGCAGCTGCTGGAGCTGACCA	0.632																																					p.L711L		.											.	ATP11A-138	0			c.G2133C						.						65.0	60.0	61.0					13																	113508734		2203	4300	6503	SO:0001819	synonymous_variant	23250	exon19			GCTGCTGGAGCTG	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2133G>C	13.37:g.113508734G>C		115	0		100	23	NM_032189	0	0	0	0	0	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	8.889	0.953559	0.18431	.	.	ENSG00000068650	ENST00000418678	.	.	.	4.84	-9.69	0.00524	.	.	.	.	.	T	0.41926	0.1180	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47959	-0.9076	4	.	.	.	.	4.8373	0.13471	0.1254:0.0926:0.4572:0.3249	.	.	.	.	S	686	.	.	W	+	2	0	ATP11A	112556735	0.001000	0.12720	0.105000	0.21289	0.982000	0.71751	-2.899000	0.00705	-2.420000	0.00564	-0.311000	0.09066	TGG	.		0.632	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
PCID2	55795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	113839829	113839829	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:113839829C>A	ENST00000337344.4	-	8	589	c.513G>T	c.(511-513)ctG>ctT	p.L171L	PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000246505.5_Silent_p.L225L|PCID2_ENST00000375457.2_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000493650.1_5'UTR	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	171					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GCTGGTTCACCAGAAACAGCA	0.353																																					p.L225L		.											.	PCID2-90	0			c.G675T						.						125.0	122.0	123.0					13																	113839829		2203	4300	6503	SO:0001819	synonymous_variant	55795	exon8			GTTCACCAGAAAC	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.513G>T	13.37:g.113839829C>A		55	0		42	9	NM_001258212	0	0	0	0	0	A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	ENST00000337344.4	37	CCDS9532.2																																																																																			.		0.353	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386	
GRK1	6011	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	114322346	114322346	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:114322346G>T	ENST00000335678.6	+	1	877	c.645G>T	c.(643-645)ctG>ctT	p.L215L		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCGGCAAGCTGTATGCCTGCA	0.642																																					p.L215L		.											.	GRK1-614	0			c.G645T						.						16.0	19.0	18.0					13																	114322346		2107	4229	6336	SO:0001819	synonymous_variant	6011	exon1			CAAGCTGTATGCC			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.645G>T	13.37:g.114322346G>T		164	1		130	36	NM_002929	0	0	0	0	0	Q53X14	Silent	SNP	ENST00000335678.6	37																																																																																				.		0.642	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929	
OR11H12	440153	broad.mit.edu;bcgsc.ca	37	14	19378109	19378109	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:19378109G>C	ENST00000550708.1	+	1	588	c.516G>C	c.(514-516)ctG>ctC	p.L172L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGTTCCTGATCCCCATTG	0.478																																					p.L172L		.											.	OR11H12-24	0			c.G516C						.						109.0	119.0	115.0					14																	19378109		2176	4277	6453	SO:0001819	synonymous_variant	440153	exon1			GTTCCTGATCCCC		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.516G>C	14.37:g.19378109G>C		605	1		584	163	NM_001013354	0	0	0	0	0		Silent	SNP	ENST00000550708.1	37	CCDS32017.1																																																																																			.		0.478	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354	
OR4N2	390429	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	20296018	20296018	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:20296018C>A	ENST00000315947.1	+	1	411	c.411C>A	c.(409-411)aaC>aaA	p.N137K	OR4N2_ENST00000568211.1_Missense_Mutation_p.N137K	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTCATGAACCCTAGAACCT	0.537																																					p.N137K		.											.	OR4N2-71	0			c.C411A						.						211.0	224.0	219.0					14																	20296018		2203	4300	6503	SO:0001583	missense	390429	exon1			CATGAACCCTAGA		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.411C>A	14.37:g.20296018C>A	ENSP00000319601:p.Asn137Lys	195	1		147	68	NM_001004723	0	0	0	0	0	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	8.415	0.844991	0.16963	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.36878	1.23;1.23	4.53	-0.797	0.10909	GPCR, rhodopsin-like superfamily (1);	0.232405	0.30302	N	0.009930	T	0.30448	0.0765	M	0.68952	2.095	0.09310	N	1	B	0.18863	0.031	B	0.23018	0.043	T	0.29761	-1.0001	10	0.72032	D	0.01	-10.5832	4.7937	0.13261	0.1446:0.5005:0.0:0.3549	.	137	Q8NGD1	OR4N2_HUMAN	K	137	ENSP00000452022:N137K;ENSP00000319601:N137K	ENSP00000319601:N137K	N	+	3	2	OR4N2	19365858	0.000000	0.05858	0.827000	0.32855	0.600000	0.36913	-1.200000	0.03029	-0.038000	0.13624	-0.218000	0.12543	AAC	.		0.537	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2		
OR11G2	390439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	20665906	20665906	+	Missense_Mutation	SNP	C	C	A	rs61106173|rs77997988|rs150549668	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:20665906C>A	ENST00000357366.3	+	1	412	c.412C>A	c.(412-414)Cag>Aag	p.Q138K		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGCTTCCTCCAGTTCTACTT	0.493																																					p.Q138K		.											.	OR11G2-70	0			c.C412A						.						63.0	59.0	61.0					14																	20665906		2203	4300	6503	SO:0001583	missense	390439	exon1			TTCCTCCAGTTCT		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.412C>A	14.37:g.20665906C>A	ENSP00000349930:p.Gln138Lys	107	0		67	38	NM_001005503	0	0	0	0	0	Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	24.4	4.532543	0.85812	.	.	ENSG00000196832	ENST00000357366	T	0.02085	4.46	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000350	T	0.23649	0.0572	H	0.97732	4.065	0.40542	D	0.981036	D	0.89917	1.0	D	0.91635	0.999	T	0.44498	-0.9324	10	0.87932	D	0	.	17.0843	0.86606	0.0:1.0:0.0:0.0	.	138	Q8NGC1	O11G2_HUMAN	K	138	ENSP00000349930:Q138K	ENSP00000349930:Q138K	Q	+	1	0	OR11G2	19735746	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.766000	0.68843	2.565000	0.86533	0.650000	0.86243	CAG	.		0.493	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
TEP1	7011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	20845643	20845643	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:20845643C>A	ENST00000262715.5	-	41	5924	c.5884G>T	c.(5884-5886)Ggg>Tgg	p.G1962W	TEP1_ENST00000545983.1_Missense_Mutation_p.G300W|TEP1_ENST00000556935.1_Missense_Mutation_p.G1854W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1962					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCTGAGCCCCCTGGGAACCT	0.587																																					p.G1962W		.											.	TEP1-95	0			c.G5884T						.						53.0	54.0	53.0					14																	20845643		2203	4300	6503	SO:0001583	missense	7011	exon41			GAGCCCCCTGGGA		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5884G>T	14.37:g.20845643C>A	ENSP00000262715:p.Gly1962Trp	81	0		54	30	NM_007110	0	0	0	0	0	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849082	0.32699	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.70399	0.73;-0.48;1.31	5.33	2.31	0.28768	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.101550	0.06719	N	0.774607	T	0.71375	0.3332	L	0.53561	1.675	0.27358	N	0.956042	B;D;B;D	0.61697	0.001;0.99;0.006;0.983	B;P;B;B	0.50378	0.001;0.639;0.007;0.436	T	0.55679	-0.8103	10	0.37606	T	0.19	-0.0223	6.8213	0.23859	0.0:0.5667:0.3353:0.098	.	300;1854;1305;1962	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	W	1962;1962;1854;300	ENSP00000262715:G1962W;ENSP00000452574:G1854W;ENSP00000438849:G300W	ENSP00000262715:G1962W	G	-	1	0	TEP1	19915483	0.001000	0.12720	0.158000	0.22627	0.919000	0.55068	-0.363000	0.07593	0.169000	0.19679	0.563000	0.77884	GGG	.		0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
MYH6	4624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	23876252	23876252	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:23876252C>G	ENST00000356287.3	-	2	210	c.181G>C	c.(181-183)Gct>Cct	p.A61P	MYH6_ENST00000405093.3_Missense_Mutation_p.A61P			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	61					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCGGTTTCAGCAATGACCTTG	0.572																																					p.A61P		.											.	MYH6-94	0			c.G181C						.						248.0	248.0	248.0					14																	23876252		2203	4300	6503	SO:0001583	missense	4624	exon3			TTTCAGCAATGAC	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.181G>C	14.37:g.23876252C>G	ENSP00000348634:p.Ala61Pro	92	0		87	59	NM_002471	0	0	0	0	0	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	14.45	2.538329	0.45176	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80393	-1.37;-1.37	3.53	3.53	0.40419	Myosin, N-terminal, SH3-like (1);	.	.	.	.	D	0.85995	0.5827	M	0.70275	2.135	0.38602	D	0.950683	P;P	0.44877	0.845;0.845	P;P	0.54100	0.742;0.742	D	0.89556	0.3803	9	0.87932	D	0	.	15.2325	0.73401	0.0:1.0:0.0:0.0	.	61;61	D9YZU2;P13533	.;MYH6_HUMAN	P	61	ENSP00000386041:A61P;ENSP00000348634:A61P	ENSP00000348634:A61P	A	-	1	0	MYH6	22946092	0.968000	0.33430	0.974000	0.42286	0.019000	0.09904	5.633000	0.67825	1.974000	0.57490	0.455000	0.32223	GCT	.		0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
RNF31	55072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	24617561	24617561	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:24617561A>C	ENST00000324103.6	+	3	754	c.434A>C	c.(433-435)cAg>cCg	p.Q145P	PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000382687.3_5'Flank|PSME2_ENST00000560410.1_5'Flank|RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000216802.5_5'Flank|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	145	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GATGAGCACCAGGTTGCTACA	0.557																																					p.Q145P		.											.	RNF31-90	0			c.A434C						.						61.0	65.0	63.0					14																	24617561		2099	4216	6315	SO:0001583	missense	55072	exon3			AGCACCAGGTTGC	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.434A>C	14.37:g.24617561A>C	ENSP00000315112:p.Gln145Pro	195	0		115	57	NM_017999	0	0	0	0	0	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515564	0.44763	.	.	ENSG00000092098	ENST00000324103	T	0.45276	0.9	5.31	4.16	0.48862	PUB domain (1);	0.539485	0.19256	N	0.118788	T	0.17450	0.0419	N	0.08118	0	0.48511	D	0.999664	P	0.48911	0.917	B	0.38880	0.284	T	0.04103	-1.0977	10	0.59425	D	0.04	-25.4377	1.5578	0.02588	0.5512:0.1807:0.0961:0.172	.	145	Q96EP0	RNF31_HUMAN	P	145	ENSP00000315112:Q145P	ENSP00000315112:Q145P	Q	+	2	0	RNF31	23687401	0.264000	0.24093	0.996000	0.52242	0.983000	0.72400	2.395000	0.44459	2.243000	0.73865	0.533000	0.62120	CAG	.		0.557	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	
DTD2	112487	broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	31926518	31926518	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:31926518C>T	ENST00000310850.4	-	1	198	c.82G>A	c.(82-84)Gat>Aat	p.D28N	DTD2_ENST00000356180.4_Missense_Mutation_p.D28N|RP11-176H8.1_ENST00000547378.1_Missense_Mutation_p.D28N	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	28					D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)										ACGTCCCCATCGGCTGGGCGA	0.677																																					p.D28N		.											.	.	0			c.G82A						.						13.0	14.0	14.0					14																	31926518		2193	4293	6486	SO:0001583	missense	112487	exon1			CCCCATCGGCTGG	BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 126"""	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.82G>A	14.37:g.31926518C>T	ENSP00000312224:p.Asp28Asn	75	1		304	75	NM_080664	0	0	0	0	0	D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083358	0.36758	.	.	ENSG00000203546;ENSG00000129480;ENSG00000129480	ENST00000547378;ENST00000310850;ENST00000356180	T;T;T	0.44881	0.92;0.91;0.91	4.88	3.95	0.45737	D-Tyr tRNAtyr deacylase-like domain (2);	0.651684	0.15520	N	0.258097	T	0.40791	0.1131	L	0.57536	1.79	0.34591	D	0.715513	B	0.30281	0.275	B	0.24269	0.052	T	0.58059	-0.7703	10	0.59425	D	0.04	-11.7916	15.6583	0.77162	0.0:0.8505:0.1495:0.0	.	28	Q96FN9	DTD2_HUMAN	N	28	ENSP00000447056:D28N;ENSP00000312224:D28N;ENSP00000348503:D28N	ENSP00000312224:D28N	D	-	1	0	C14orf126;RP11-176H8.1	30996269	0.980000	0.34600	0.954000	0.39281	0.041000	0.13682	2.913000	0.48790	2.530000	0.85305	0.655000	0.94253	GAT	.		0.677	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664	
EAPP	55837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	35005309	35005309	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:35005309G>A	ENST00000250454.3	-	2	328	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	83					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CCAGTTCCCAGAGAGGATAAC	0.363																																					p.L83L		.											.	EAPP-91	0			c.C247T						.						81.0	72.0	75.0					14																	35005309		1810	4069	5879	SO:0001819	synonymous_variant	55837	exon2			TTCCCAGAGAGGA	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.247C>T	14.37:g.35005309G>A		36	0		25	17	NM_018453	0	0	0	0	0	Q9BVF4|Q9NWV5|Q9NZ86	Silent	SNP	ENST00000250454.3	37	CCDS41941.1																																																																																			.		0.363	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453	
FAM177A1	283635	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	35548204	35548204	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:35548204G>C	ENST00000382406.3	+	5	466	c.409G>C	c.(409-411)Gat>Cat	p.D137H	FAM177A1_ENST00000396472.1_Missense_Mutation_p.D137H|FAM177A1_ENST00000280987.4_Missense_Mutation_p.D160H			Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1	137										breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						ATATGCCATTGATGAATATTA	0.373																																					p.D160H		.											.	FAM177A1-226	0			c.G478C						.						124.0	109.0	114.0					14																	35548204		2203	4300	6503	SO:0001583	missense	283635	exon4			GCCATTGATGAAT	BG722411	CCDS9653.2, CCDS41944.1	14q13.2	2008-07-09	2008-07-09	2008-07-09	ENSG00000151327	ENSG00000151327			19829	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 24"""	C14orf24			Standard	NM_001079519		Approved		uc001wsq.3	Q8N128	OTTHUMG00000140217	ENST00000382406.3:c.409G>C	14.37:g.35548204G>C	ENSP00000371843:p.Asp137His	96	0		60	16	NM_173607	0	0	0	0	0	Q68CT2	Missense_Mutation	SNP	ENST00000382406.3	37	CCDS41944.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669500	0.67814	.	.	ENSG00000151327	ENST00000396472;ENST00000382406;ENST00000280987;ENST00000554794	.	.	.	5.94	5.94	0.96194	.	0.050311	0.85682	D	0.000000	D	0.83473	0.5262	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84679	0.0716	9	0.87932	D	0	.	18.5541	0.91077	0.0:0.0:1.0:0.0	.	160;137	Q8N128-2;Q8N128	.;F177A_HUMAN	H	137;137;160;105	.	ENSP00000280987:D160H	D	+	1	0	FAM177A1	34617955	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	9.471000	0.97696	2.820000	0.97059	0.650000	0.86243	GAT	.		0.373	FAM177A1-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410816.1	NM_173607	
LRFN5	145581	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	42356483	42356483	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:42356483G>C	ENST00000298119.4	+	3	1844	c.655G>C	c.(655-657)Gct>Cct	p.A219P	LRFN5_ENST00000554120.1_Missense_Mutation_p.A219P|LRFN5_ENST00000554171.1_Missense_Mutation_p.A219P	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	219						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTTTCAGCGAGCTCAGGTACT	0.443										HNSCC(30;0.082)																											p.A219P		.											.	LRFN5-97	0			c.G655C						.						76.0	75.0	76.0					14																	42356483		2203	4300	6503	SO:0001583	missense	145581	exon3			CAGCGAGCTCAGG	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.655G>C	14.37:g.42356483G>C	ENSP00000298119:p.Ala219Pro	121	0		102	57	NM_152447	0	0	0	0	0	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998176	0.54147	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.49432	0.78;0.78;0.78	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000029	T	0.64746	0.2626	M	0.72479	2.2	0.58432	D	0.999996	D;D	0.64830	0.98;0.994	P;P	0.61201	0.865;0.885	T	0.60924	-0.7166	10	0.29301	T	0.29	.	17.0193	0.86429	0.0:0.0:1.0:0.0	.	219;219	G3V364;Q96NI6	.;LRFN5_HUMAN	P	219	ENSP00000298119:A219P;ENSP00000451897:A219P;ENSP00000451067:A219P	ENSP00000298119:A219P	A	+	1	0	LRFN5	41426233	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.861000	0.87004	2.595000	0.87683	0.650000	0.86243	GCT	.		0.443	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
LRFN5	145581	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	42356830	42356830	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:42356830T>A	ENST00000298119.4	+	3	2191	c.1002T>A	c.(1000-1002)tcT>tcA	p.S334S	LRFN5_ENST00000554120.1_Silent_p.S334S|LRFN5_ENST00000554171.1_Silent_p.S334S	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	334	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAACAAGATCTCTGGTGTATG	0.463										HNSCC(30;0.082)																											p.S334S		.											.	LRFN5-97	0			c.T1002A						.						129.0	125.0	127.0					14																	42356830		2203	4300	6503	SO:0001819	synonymous_variant	145581	exon3			AAGATCTCTGGTG	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1002T>A	14.37:g.42356830T>A		130	0		78	37	NM_152447	0	0	0	0	0	B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	CCDS9678.1																																																																																			.		0.463	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
FSCB	84075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	44974595	44974595	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:44974595C>A	ENST00000340446.4	-	1	1887	c.1596G>T	c.(1594-1596)gaG>gaT	p.E532D	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	532	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGCAGGAGCCTCTATAGCTG	0.498																																					p.E532D		.											.	FSCB-587	0			c.G1596T						.						31.0	31.0	31.0					14																	44974595		2203	4299	6502	SO:0001583	missense	84075	exon1			AGGAGCCTCTATA	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1596G>T	14.37:g.44974595C>A	ENSP00000344579:p.Glu532Asp	31	0		35	22	NM_032135	0	0	0	0	0	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961798	0.34659	.	.	ENSG00000189139	ENST00000340446	T	0.12879	2.64	4.74	0.764	0.18465	.	.	.	.	.	T	0.24624	0.0597	L	0.49126	1.545	0.09310	N	1	D	0.71674	0.998	D	0.66847	0.947	T	0.15607	-1.0431	9	0.27082	T	0.32	0.4568	8.9704	0.35903	0.0:0.6484:0.0:0.3516	.	532	Q5H9T9	FSCB_HUMAN	D	532	ENSP00000344579:E532D	ENSP00000344579:E532D	E	-	3	2	FSCB	44044345	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.166000	0.00575	0.184000	0.20083	0.603000	0.83216	GAG	.		0.498	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
MIS18BP1	55320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	45693590	45693590	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:45693590C>T	ENST00000310806.4	-	11	2658	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	734					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						AGCATTTGTTCCTTTTCAAGG	0.313																																					p.E734K		.											.	MIS18BP1-90	0			c.G2200A						.						72.0	74.0	73.0					14																	45693590		2203	4298	6501	SO:0001583	missense	55320	exon11			TTTGTTCCTTTTC	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2200G>A	14.37:g.45693590C>T	ENSP00000309790:p.Glu734Lys	47	0		41	24	NM_018353	0	0	0	0	0	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	0.647	-0.811202	0.02798	.	.	ENSG00000129534	ENST00000310806	T	0.17370	2.28	5.72	-1.97	0.07503	.	1.191510	0.05620	N	0.579749	T	0.10508	0.0257	N	0.16903	0.455	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.40079	-0.9582	10	0.17832	T	0.49	-1.7267	10.2608	0.43425	0.0:0.3927:0.0:0.6073	.	734	Q6P0N0	M18BP_HUMAN	K	734	ENSP00000309790:E734K	ENSP00000309790:E734K	E	-	1	0	MIS18BP1	44763340	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	-0.881000	0.04179	-0.628000	0.05582	0.655000	0.94253	GAA	.		0.313	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		
MIS18BP1	55320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	45711445	45711445	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:45711445C>G	ENST00000310806.4	-	4	1393	c.935G>C	c.(934-936)gGg>gCg	p.G312A	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	312					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTGCGAAGTCCCTTCTGTTGT	0.383																																					p.G312A		.											.	MIS18BP1-90	0			c.G935C						.						86.0	85.0	86.0					14																	45711445		2203	4300	6503	SO:0001583	missense	55320	exon4			GAAGTCCCTTCTG	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.935G>C	14.37:g.45711445C>G	ENSP00000309790:p.Gly312Ala	64	0		57	28	NM_018353	0	0	0	0	0	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	0.200	-1.045964	0.01997	.	.	ENSG00000129534	ENST00000310806	T	0.19105	2.17	4.97	-4.91	0.03085	.	2.034470	0.01883	N	0.037969	T	0.10380	0.0254	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.21724	-1.0237	10	0.06099	T	0.92	4.7139	2.5569	0.04762	0.1238:0.2795:0.1216:0.4751	.	312	Q6P0N0	M18BP_HUMAN	A	312	ENSP00000309790:G312A	ENSP00000309790:G312A	G	-	2	0	MIS18BP1	44781195	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.399000	0.07250	-1.029000	0.03317	-0.293000	0.09583	GGG	.		0.383	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		
MDGA2	161357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	47342647	47342647	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:47342647C>G	ENST00000399232.2	-	14	2898	c.2534G>C	c.(2533-2535)gGa>gCa	p.G845A	MDGA2_ENST00000439988.3_Missense_Mutation_p.G914A|MDGA2_ENST00000426342.1_Missense_Mutation_p.G616A|MDGA2_ENST00000357362.3_Missense_Mutation_p.G616A|MDGA2_ENST00000399222.3_Missense_Mutation_p.G47A	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	845	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TATATGTTGTCCATACATGTG	0.343																																					p.G914A		.											.	MDGA2-95	0			c.G2741C						.						114.0	108.0	110.0					14																	47342647		1839	4084	5923	SO:0001583	missense	161357	exon14			TGTTGTCCATACA	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2534G>C	14.37:g.47342647C>G	ENSP00000382178:p.Gly845Ala	71	0		33	16	NM_001113498	0	0	0	0	0	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.372277	0.82573	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.50627	U	0.000106	T	0.28200	0.0696	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.38735	-0.9647	10	0.87932	D	0	.	17.0556	0.86533	0.0:1.0:0.0:0.0	.	616;845	F6W3S7;Q7Z553	.;MDGA2_HUMAN	A	845;616;914;47;616	ENSP00000400011:G845A;ENSP00000405456:G616A;ENSP00000382178:G914A;ENSP00000382168:G47A;ENSP00000349925:G616A	ENSP00000349925:G616A	G	-	2	0	MDGA2	46412397	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	2.446000	0.82766	0.467000	0.42956	GGA	.		0.343	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
ABHD12B	145447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	51355545	51355545	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:51355545G>A	ENST00000337334.2	+	9	719	c.704G>A	c.(703-705)tGc>tAc	p.C235Y	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Missense_Mutation_p.C128Y|ABHD12B_ENST00000353130.1_Missense_Mutation_p.C158Y|ABHD12B_ENST00000554241.1_3'UTR	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	235							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					TTTCAAGGATGCCCAGTTGAT	0.373																																					p.C235Y		.											.	ABHD12B-153	0			c.G704A						.						127.0	108.0	114.0					14																	51355545		2203	4300	6503	SO:0001583	missense	145447	exon9			AAGGATGCCCAGT	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.704G>A	14.37:g.51355545G>A	ENSP00000336693:p.Cys235Tyr	55	0		31	18	NM_001206673	0	0	0	0	0	Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	CCDS55916.1	.	.	.	.	.	.	.	.	.	.	G	0.429	-0.904562	0.02453	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.21543	2.0;2.0;2.0	4.91	-2.21	0.06973	.	0.982181	0.08399	N	0.951703	T	0.05686	0.0149	N	0.01729	-0.75	0.18873	N	0.999983	B;B	0.12013	0.002;0.005	B;B	0.09377	0.004;0.002	T	0.38929	-0.9638	10	0.07482	T	0.82	-25.2882	4.9816	0.14168	0.0741:0.3035:0.4248:0.1976	.	235;158	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	Y	158;235;128	ENSP00000343951:C158Y;ENSP00000336693:C235Y;ENSP00000379101:C128Y	ENSP00000336693:C235Y	C	+	2	0	ABHD12B	50425295	0.000000	0.05858	0.866000	0.34008	0.994000	0.84299	-0.818000	0.04467	-0.530000	0.06349	0.643000	0.83706	TGC	.		0.373	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1		
NID2	22795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	52485862	52485862	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:52485862C>A	ENST00000216286.5	-	14	2944	c.2945G>T	c.(2944-2946)tGg>tTg	p.W982L	NID2_ENST00000541773.1_Missense_Mutation_p.W881L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	982	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.W982*(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GTCCACGCACCAGCAGAAACC	0.622																																					p.W982L		.											.	NID2-158	1	Substitution - Nonsense(1)	breast(1)	c.G2945T						.						66.0	50.0	56.0					14																	52485862		2203	4300	6503	SO:0001583	missense	22795	exon14			ACGCACCAGCAGA	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2945G>T	14.37:g.52485862C>A	ENSP00000216286:p.Trp982Leu	180	1		177	111	NM_007361	0	0	0	0	0	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173440	0.78452	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.81415	-1.49;-1.49	5.32	5.32	0.75619	Thyroglobulin type-1 (6);	0.173464	0.64402	D	0.000019	D	0.93090	0.7800	H	0.97103	3.94	0.58432	D	0.99999	D;P;D;D	0.67145	0.996;0.525;0.992;0.996	D;B;D;D	0.74023	0.982;0.182;0.94;0.982	D	0.92137	0.5717	10	0.25751	T	0.34	.	19.9038	0.96999	0.0:1.0:0.0:0.0	.	576;881;984;982	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	L	982;576;881;984	ENSP00000216286:W982L;ENSP00000443730:W881L	ENSP00000216286:W982L	W	-	2	0	NID2	51555612	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.830000	0.69324	2.880000	0.98712	0.655000	0.94253	TGG	.		0.622	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
NID2	22795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	52486816	52486816	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:52486816G>T	ENST00000216286.5	-	13	2754	c.2755C>A	c.(2755-2757)Caa>Aaa	p.Q919K	NID2_ENST00000541773.1_Missense_Mutation_p.Q818K	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	919	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TATCCGGGTTGACAACGGCAG	0.458																																					p.Q919K		.											.	NID2-158	0			c.C2755A						.						127.0	114.0	119.0					14																	52486816		2203	4300	6503	SO:0001583	missense	22795	exon13			CGGGTTGACAACG	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2755C>A	14.37:g.52486816G>T	ENSP00000216286:p.Gln919Lys	173	0		124	68	NM_007361	0	0	0	0	0	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.891|1.891	-0.455479|-0.455479	0.04540|0.04540	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707|ENST00000556572	D;D|.	0.87809|.	-2.3;-2.3|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Thyroglobulin type-1 (1);EGF domain, merozoite surface protein 1-like (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.641922|.	0.17470|.	N|.	0.173131|.	T|.	0.38188|.	0.1031|.	N|N	0.10707|0.10707	0.03|0.03	0.35774|0.35774	D|D	0.821157|0.821157	B;B;P;B|.	0.42649|.	0.022;0.077;0.786;0.012|.	B;B;P;B|.	0.49799|.	0.038;0.02;0.622;0.069|.	T|.	0.47649|.	-0.9101|.	10|.	0.02654|.	T|.	1|.	.|.	14.184|14.184	0.65592|0.65592	0.0:0.0:0.8504:0.1496|0.0:0.0:0.8504:0.1496	.|.	513;818;921;919|.	E7EPP3;Q14112-2;Q5CZI2;Q14112|.	.;.;.;NID2_HUMAN|.	K|X	919;513;818;921|187	ENSP00000216286:Q919K;ENSP00000443730:Q818K|.	ENSP00000216286:Q919K|.	Q|S	-|-	1|2	0|0	NID2|NID2	51556566|51556566	0.526000|0.526000	0.26298|0.26298	0.994000|0.994000	0.49952|0.49952	0.596000|0.596000	0.36781|0.36781	0.768000|0.768000	0.26590|0.26590	2.572000|2.572000	0.86782|0.86782	0.655000|0.655000	0.94253|0.94253	CAA|TCA	.		0.458	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
ARID4A	5926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	58831980	58831980	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:58831980G>C	ENST00000355431.3	+	20	3546	c.3173G>C	c.(3172-3174)tGt>tCt	p.C1058S	ARID4A_ENST00000395168.3_Missense_Mutation_p.C1058S|ARID4A_ENST00000348476.3_Missense_Mutation_p.C1058S|ARID4A_ENST00000431317.2_Missense_Mutation_p.C1058S	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1058					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTGGTACCTGTAGTATAATT	0.373																																					p.C1058S		.											.	ARID4A-231	0			c.G3173C						.						65.0	66.0	66.0					14																	58831980		2202	4294	6496	SO:0001583	missense	5926	exon20			GTACCTGTAGTAT	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3173G>C	14.37:g.58831980G>C	ENSP00000347602:p.Cys1058Ser	119	0		81	52	NM_002892	0	0	0	0	0	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	5.122	0.208060	0.09704	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.15603	2.69;2.76;2.82;2.76;2.41	5.46	5.46	0.80206	.	0.155438	0.52532	D	0.000074	T	0.23806	0.0576	N	0.17082	0.46	0.43137	D	0.994886	D;D;D	0.67145	0.996;0.993;0.996	D;D;D	0.77557	0.99;0.977;0.917	T	0.01566	-1.1323	10	0.02654	T	1	-11.8046	19.3065	0.94164	0.0:0.0:1.0:0.0	.	1058;1058;1058	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	S	1058;1058;1058;1058;736	ENSP00000347602:C1058S;ENSP00000344556:C1058S;ENSP00000378597:C1058S;ENSP00000397368:C1058S;ENSP00000416053:C736S	ENSP00000344556:C1058S	C	+	2	0	ARID4A	57901733	1.000000	0.71417	0.200000	0.23457	0.856000	0.48823	4.693000	0.61753	2.574000	0.86865	0.557000	0.71058	TGT	.		0.373	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
C14orf39	317761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	14	60933637	60933637	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:60933637G>T	ENST00000321731.3	-	10	1052	c.893C>A	c.(892-894)gCa>gAa	p.A298E		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	298					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TATTATACCTGCAACTCTTGG	0.284																																					p.A298E		.											.	C14orf39-94	0			c.C893A						.						67.0	66.0	66.0					14																	60933637		2199	4282	6481	SO:0001583	missense	317761	exon10			ATACCTGCAACTC	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.893C>A	14.37:g.60933637G>T	ENSP00000324920:p.Ala298Glu	17	0		17	10	NM_174978	0	0	0	0	0	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	g	0.540	-0.854211	0.02630	.	.	ENSG00000179008	ENST00000321731	T	0.22539	1.95	5.29	-0.458	0.12182	.	0.834953	0.10862	N	0.626015	T	0.08891	0.0220	N	0.22421	0.69	0.40447	D	0.980105	B	0.24426	0.103	B	0.25140	0.058	T	0.41787	-0.9489	10	0.02654	T	1	-7.1467	1.2592	0.01998	0.2867:0.1406:0.428:0.1447	.	298	Q8N1H7	S6OS1_HUMAN	E	298	ENSP00000324920:A298E	ENSP00000324920:A298E	A	-	2	0	C14orf39	60003390	0.585000	0.26774	0.907000	0.35723	0.013000	0.08279	-0.613000	0.05610	-0.267000	0.09325	-0.291000	0.09656	GCA	.		0.284	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
SYNE2	23224	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	64691758	64691758	+	Missense_Mutation	SNP	G	G	T	rs559718346	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:64691758G>T	ENST00000344113.4	+	114	20657	c.20445G>T	c.(20443-20445)gaG>gaT	p.E6815D	SYNE2_ENST00000554805.1_Missense_Mutation_p.E598D|SYNE2_ENST00000441438.2_Missense_Mutation_p.E359D|SYNE2_ENST00000555022.1_Missense_Mutation_p.E693D|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6837D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E6736*|SYNE2_ENST00000458046.2_Missense_Mutation_p.E486D|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3471D|SYNE2_ENST00000394768.2_Missense_Mutation_p.E3200D|SYNE2_ENST00000357395.3_Missense_Mutation_p.E3200D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6815					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGAGACAGAGAGCAGGTAAC	0.488																																					p.E6837D		.											.	SYNE2-164	0			c.G20511T						.						78.0	76.0	76.0					14																	64691758		2203	4300	6503	SO:0001583	missense	23224	exon115			GACAGAGAGCAGG	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20445G>T	14.37:g.64691758G>T	ENSP00000341781:p.Glu6815Asp	162	2		463	138	NM_182914	0	0	0	0	0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	58|58	31.481763|31.481763	0.99979|0.99979	.|.	.|.	ENSG00000054654|ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438|ENST00000554584;ENST00000261678	T;T;T;T;T;T;T;T;T|.	0.48201|.	0.82;4.12;0.82;4.17;4.12;3.76;3.27;2.96;2.78|.	6.17|6.17	1.8|1.8	0.24995|0.24995	.|.	0.637907|0.637907	0.14363|0.14363	N|N	0.324323|0.324323	T|.	0.09158|.	0.0226|.	N|N	0.00237|0.00237	-1.79|-1.79	0.34100|0.34100	D|D	0.661721|0.661721	B;B;B;B;B;B;B|.	0.06786|.	0.0;0.0;0.001;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B;B|.	0.06405|.	0.0;0.001;0.001;0.001;0.0;0.001;0.002|.	T|.	0.39333|.	-0.9619|.	10|.	0.02654|0.02654	T|T	1|1	.|.	7.9588|7.9588	0.30060|0.30060	0.0:0.5546:0.2804:0.165|0.0:0.5546:0.2804:0.165	.|.	472;3200;359;486;1217;6815;6837|.	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2|.	.;.;.;.;.;SYNE2_HUMAN;.|.	D|X	6837;3200;6815;3471;3200;693;598;486;359|6736;6742	ENSP00000350719:E6837D;ENSP00000349969:E3200D;ENSP00000341781:E6815D;ENSP00000450831:E3471D;ENSP00000378249:E3200D;ENSP00000451009:E693D;ENSP00000450605:E598D;ENSP00000391937:E486D;ENSP00000396794:E359D|.	ENSP00000341781:E6815D|ENSP00000261678:E6742X	E|E	+|+	3|1	2|0	SYNE2|SYNE2	63761511|63761511	0.068000|0.068000	0.21057|0.21057	0.744000|0.744000	0.31058|0.31058	0.623000|0.623000	0.37688|0.37688	-0.399000|-0.399000	0.07250|0.07250	0.469000|0.469000	0.27268|0.27268	0.655000|0.655000	0.94253|0.94253	GAG|GAG	.		0.488	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
AKAP5	9495	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	64935226	64935226	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:64935226G>C	ENST00000394718.4	+	2	492	c.114G>C	c.(112-114)aaG>aaC	p.K38N	ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.K38N|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	38	Essential to the intracellular anchoring function. {ECO:0000250}.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TTTGCTTCAAGAGAAGAAAGA	0.473																																					p.K38N		.											.	AKAP5-226	0			c.G114C						.						52.0	54.0	53.0					14																	64935226		2203	4300	6503	SO:0001583	missense	9495	exon2			CTTCAAGAGAAGA	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.114G>C	14.37:g.64935226G>C	ENSP00000378207:p.Lys38Asn	188	0		276	41	NM_004857	0	0	0	0	0	A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421153	0.62622	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.50548	0.74;0.74	5.58	4.58	0.56647	.	0.000000	0.64402	D	0.000006	T	0.56171	0.1967	L	0.36672	1.1	0.34538	D	0.709911	D	0.89917	1.0	D	0.91635	0.999	T	0.66408	-0.5931	10	0.72032	D	0.01	-17.2737	10.6265	0.45510	0.1229:0.0:0.8771:0.0	.	38	P24588	AKAP5_HUMAN	N	38	ENSP00000378207:K38N;ENSP00000315615:K38N	ENSP00000315615:K38N	K	+	3	2	AKAP5	64004979	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.304000	0.51866	2.630000	0.89119	0.655000	0.94253	AAG	.		0.473	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3		
PLEKHG3	26030	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	65209938	65209938	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:65209938C>G	ENST00000394691.1	+	17	3324	c.3177C>G	c.(3175-3177)tcC>tcG	p.S1059S	PLEKHG3_ENST00000484731.2_Silent_p.S564S|PLEKHG3_ENST00000247226.7_Silent_p.S1003S|PLEKHG3_ENST00000471182.2_Silent_p.S592S|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1059							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGTATGCCTCCCGCGATGAGG	0.726																																					p.S1003S		.											.	PLEKHG3-91	0			c.C3009G						.						27.0	33.0	31.0					14																	65209938		2198	4291	6489	SO:0001819	synonymous_variant	26030	exon15			TGCCTCCCGCGAT	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3177C>G	14.37:g.65209938C>G		13	0		111	24	NM_015549	0	0	0	0	0	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37																																																																																				.		0.726	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549	
VTI1B	10490	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	68120200	68120200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:68120200C>A	ENST00000554659.1	-	5	897	c.556G>T	c.(556-558)Gaa>Taa	p.E186*		NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	186					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		CTCAAGTTTTCACTTGTGTTT	0.333																																					p.E186X		.											.	VTI1B-90	0			c.G556T						.						73.0	71.0	72.0					14																	68120200		2203	4299	6502	SO:0001587	stop_gained	10490	exon5			AGTTTTCACTTGT	AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"""vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"""			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.556G>T	14.37:g.68120200C>A	ENSP00000450731:p.Glu186*	65	0		50	8	NM_006370	0	0	0	0	0	O43547|Q96J28	Nonsense_Mutation	SNP	ENST00000554659.1	37	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	C	39	7.510855	0.98329	.	.	ENSG00000100568	ENST00000554659	.	.	.	5.14	5.14	0.70334	.	0.049531	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	.	.	.	X	186	.	ENSP00000216456:E186X	E	-	1	0	VTI1B	67189953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.358000	0.66064	2.677000	0.91161	0.655000	0.94253	GAA	.		0.333	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2		
SLC8A3	6547	ucsc.edu;bcgsc.ca	37	14	70515629	70515629	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:70515629G>C	ENST00000381269.2	-	7	3015	c.2262C>G	c.(2260-2262)ggC>ggG	p.G754G	SLC8A3_ENST00000357887.3_Silent_p.G752G|SLC8A3_ENST00000533541.1_Silent_p.G111G|SLC8A3_ENST00000534137.1_Silent_p.G751G|SLC8A3_ENST00000394330.2_Silent_p.G111G|SLC8A3_ENST00000356921.2_Silent_p.G748G|SLC8A3_ENST00000216568.7_Silent_p.G125G|SLC8A3_ENST00000528359.1_Silent_p.G752G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	754					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGCAGGCCCAGCCGTGGCAGT	0.582																																					p.G754G		.											.	SLC8A3-225	0			c.C2262G						.						72.0	62.0	65.0					14																	70515629		2203	4300	6503	SO:0001819	synonymous_variant	6547	exon7			GGCCCAGCCGTGG	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2262C>G	14.37:g.70515629G>C		128	2		131	85	NM_183002	0	0	0	0	0	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	CCDS35498.1																																																																																			.		0.582	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		
SLC8A3	6547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	70634023	70634023	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:70634023C>A	ENST00000381269.2	-	2	1870	c.1117G>T	c.(1117-1119)Gca>Tca	p.A373S	SLC8A3_ENST00000357887.3_Missense_Mutation_p.A373S|SLC8A3_ENST00000534137.1_Missense_Mutation_p.A373S|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A373S|SLC8A3_ENST00000528359.1_Missense_Mutation_p.A373S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	373					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGTTCTGCTGCATGTTTCTTC	0.493																																					p.A373S		.											.	SLC8A3-225	0			c.G1117T						.						121.0	111.0	115.0					14																	70634023		2203	4300	6503	SO:0001583	missense	6547	exon2			CTGCTGCATGTTT	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1117G>T	14.37:g.70634023C>A	ENSP00000370669:p.Ala373Ser	169	0		131	87	NM_183002	0	0	0	0	0	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826720	0.71143	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.35605	1.38;1.3;1.43;1.38;1.43	5.83	5.83	0.93111	.	0.060006	0.64402	D	0.000002	T	0.54695	0.1874	L	0.53617	1.68	0.80722	D	1	P;P;D;P	0.63046	0.915;0.862;0.992;0.877	P;P;P;P	0.62184	0.64;0.515;0.899;0.695	T	0.39272	-0.9622	10	0.32370	T	0.25	.	20.1242	0.97973	0.0:1.0:0.0:0.0	.	373;373;373;373	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	S	373	ENSP00000349392:A373S;ENSP00000370669:A373S;ENSP00000350560:A373S;ENSP00000436688:A373S;ENSP00000433531:A373S	ENSP00000349392:A373S	A	-	1	0	SLC8A3	69703776	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.811000	0.86092	2.744000	0.94065	0.643000	0.83706	GCA	.		0.493	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		
ADAM21	8747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	70926120	70926120	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:70926120T>A	ENST00000603540.1	+	2	2162	c.1904T>A	c.(1903-1905)cTt>cAt	p.L635H	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.L635H	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	635	EGF-like.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CATGTCTGCCTTCCTGAGACC	0.502																																					p.L635H		.											.	ADAM21-92	0			c.T1904A						.						152.0	134.0	140.0					14																	70926120		2203	4300	6503	SO:0001583	missense	8747	exon2			TCTGCCTTCCTGA	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1904T>A	14.37:g.70926120T>A	ENSP00000474385:p.Leu635His	435	1		397	180	NM_003813	0	0	0	0	0	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253007	0.22965	.	.	ENSG00000139985	ENST00000267499	T	0.01172	5.23	4.49	3.36	0.38483	.	0.844624	0.09626	U	0.776824	T	0.01124	0.0037	L	0.33189	0.99	0.29998	N	0.816283	B	0.18013	0.025	B	0.21151	0.033	T	0.37731	-0.9693	10	0.21014	T	0.42	.	3.6775	0.08298	0.2517:0.1031:0.0:0.6452	.	635	Q9UKJ8	ADA21_HUMAN	H	635	ENSP00000267499:L635H	ENSP00000267499:L635H	L	+	2	0	ADAM21	69995873	0.001000	0.12720	1.000000	0.80357	0.993000	0.82548	0.935000	0.28924	2.011000	0.59026	0.460000	0.39030	CTT	.		0.502	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
ADAM20	8748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	70990144	70990144	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:70990144C>A	ENST00000256389.3	-	2	1725	c.1481G>T	c.(1480-1482)gGg>gTg	p.G494V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	444	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACAAGCAGCCCCAGGATGTAG	0.453																																					p.G494V		.											.	ADAM20-226	0			c.G1481T						.						124.0	125.0	125.0					14																	70990144		2203	4300	6503	SO:0001583	missense	8748	exon2			GCAGCCCCAGGAT	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1481G>T	14.37:g.70990144C>A	ENSP00000256389:p.Gly494Val	97	0		120	43	NM_003814	0	0	0	0	0	Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542554	0.45280	.	.	ENSG00000134007	ENST00000256389	T	0.14144	2.53	4.54	2.68	0.31781	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.36591	U	0.002516	T	0.50769	0.1635	H	0.98849	4.35	0.37893	D	0.930793	D	0.69078	0.997	D	0.76071	0.987	T	0.63305	-0.6667	10	0.87932	D	0	.	8.6206	0.33859	0.0:0.7652:0.1516:0.0832	.	444	O43506	ADA20_HUMAN	V	494	ENSP00000256389:G494V	ENSP00000256389:G494V	G	-	2	0	ADAM20	70059897	0.005000	0.15991	0.066000	0.19879	0.004000	0.04260	1.126000	0.31344	0.439000	0.26476	-0.259000	0.10710	GGG	.		0.453	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2		
SIPA1L1	26037	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	72128143	72128143	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:72128143C>A	ENST00000555818.1	+	7	2562	c.2214C>A	c.(2212-2214)atC>atA	p.I738I	SIPA1L1_ENST00000381232.3_Silent_p.I738I|SIPA1L1_ENST00000537413.1_Silent_p.I213I|SIPA1L1_ENST00000358550.2_Silent_p.I738I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	738	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTTCGTCATCGTCAGGGTGC	0.493																																					p.I738I		.											.	SIPA1L1-156	0			c.C2214A						.						168.0	139.0	148.0					14																	72128143		2203	4300	6503	SO:0001819	synonymous_variant	26037	exon7			CGTCATCGTCAGG	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2214C>A	14.37:g.72128143C>A		76	1		52	35	NM_015556	0	0	0	0	0	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																			.		0.493	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
PAPLN	89932	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	73711367	73711367	+	Silent	SNP	C	C	A	rs377339624		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:73711367C>A	ENST00000554301.1	+	2	233	c.70C>A	c.(70-72)Cgg>Agg	p.R24R	PAPLN_ENST00000427855.1_Silent_p.R24R|PAPLN_ENST00000555445.1_Silent_p.R24R|RP4-647C14.2_ENST00000554614.1_RNA|RNU6-419P_ENST00000517030.1_RNA|PAPLN_ENST00000340738.5_Silent_p.R24R|PAPLN_ENST00000381166.3_Silent_p.R24R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	24						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CAAGGTGAGGCGGCAGAGTGA	0.647																																					p.R24R		.											.	PAPLN-70	0			c.C70A						.						16.0	14.0	15.0					14																	73711367		2184	4289	6473	SO:0001819	synonymous_variant	89932	exon3			GTGAGGCGGCAGA	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.70C>A	14.37:g.73711367C>A		122	0		140	85	NM_173462	0	0	0	0	0	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37																																																																																				.		0.647	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462	
NUMB	8650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	73750814	73750814	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:73750814C>T	ENST00000355058.3	-	10	1202	c.924G>A	c.(922-924)aaG>aaA	p.K308K	NUMB_ENST00000359560.3_Silent_p.K297K|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Silent_p.K297K|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000557597.1_Silent_p.K297K|NUMB_ENST00000556772.1_Silent_p.K164K|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000554546.1_Silent_p.K297K|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000555238.1_Silent_p.K308K|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000356296.4_Silent_p.K308K|NUMB_ENST00000555394.1_Silent_p.K308K|NUMB_ENST00000554521.2_Intron			P49757	NUMB_HUMAN	numb homolog (Drosophila)	308					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GGAAATCAGTCTTCCTCTGCA	0.458																																					p.K308K		.											.	NUMB-1062	0			c.G924A						.						135.0	120.0	125.0					14																	73750814		2203	4300	6503	SO:0001819	synonymous_variant	8650	exon10			ATCAGTCTTCCTC	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.924G>A	14.37:g.73750814C>T		195	0		187	41	NM_001005744	0	0	0	0	0	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	ENST00000355058.3	37	CCDS32116.1																																																																																			.		0.458	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1		
LTBP2	4053	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	75018960	75018960	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:75018960G>A	ENST00000261978.4	-	6	1715	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	LTBP2_ENST00000556690.1_Silent_p.S443S|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	443					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCTGGGGCGGGACCCCCTCC	0.687																																					p.S443S		.											.	LTBP2-92	0			c.C1329T						.						26.0	28.0	27.0					14																	75018960		2201	4298	6499	SO:0001819	synonymous_variant	4053	exon6			GGGGCGGGACCCC		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1329C>T	14.37:g.75018960G>A		134	2		168	122	NM_000428	0	0	0	0	0	Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	CCDS9831.1																																																																																			.		0.687	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
TTLL5	23093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	76149969	76149969	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:76149969C>T	ENST00000298832.9	+	5	546	c.341C>T	c.(340-342)tCt>tTt	p.S114F	TTLL5_ENST00000557636.1_Missense_Mutation_p.S114F|TTLL5_ENST00000556977.1_Missense_Mutation_p.S114F|TTLL5_ENST00000286650.5_Missense_Mutation_p.S114F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	114	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGCACCCTCTCTGAAGCACAA	0.468																																					p.S114F		.											.	TTLL5-92	0			c.C341T						.						155.0	133.0	141.0					14																	76149969		2203	4300	6503	SO:0001583	missense	23093	exon5			CCCTCTCTGAAGC	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.341C>T	14.37:g.76149969C>T	ENSP00000298832:p.Ser114Phe	121	0		122	28	NM_015072	0	0	0	0	0	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464734	0.84425	.	.	ENSG00000119685	ENST00000557003;ENST00000556977;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.07800	3.94;3.16;4.03	5.53	5.53	0.82687	.	0.301114	0.37623	N	0.002011	T	0.10594	0.0259	L	0.27975	0.815	0.80722	D	1	B;B;P	0.44478	0.23;0.272;0.836	B;B;P	0.44477	0.064;0.105;0.451	T	0.03493	-1.1031	10	0.59425	D	0.04	.	18.2244	0.89913	0.0:1.0:0.0:0.0	.	114;114;114	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	F	114	ENSP00000450713:S114F;ENSP00000286650:S114F;ENSP00000298832:S114F	ENSP00000286650:S114F	S	+	2	0	TTLL5	75219722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.442000	0.59988	2.595000	0.87683	0.655000	0.94253	TCT	.		0.468	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072	
IRF2BPL	64207	broad.mit.edu	37	14	77493762	77493767	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs553703325|rs556445214|rs200317113	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:77493762_77493767delTGCTGC	ENST00000238647.3	-	1	1267_1272	c.369_374delGCAGCA	c.(367-375)cagcagcaa>caa	p.123_125QQQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	123	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GAgctgttgttgctgctgctgctgct	0.714														4658	0.930112	0.9297	0.9769	5008	,	,		7189	0.872		0.9712	False		,,,				2504	0.9151				p.123_125del		.											.	IRF2BPL-90	0			c.369_374del						.																																			SO:0001651	inframe_deletion	64207	exon1			TGTTGTTGCTGCT	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.369_374delGCAGCA	14.37:g.77493768_77493773delTGCTGC	ENSP00000238647:p.Gln125_Gln126del	23	0		18	9	NM_024496	0	0	0	0	0	Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	CCDS9854.1																																																																																			CTG|1.000;|0.000		0.714	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496	
NRXN3	9369	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	79175583	79175583	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:79175583C>T	ENST00000554719.1	+	4	617	c.126C>T	c.(124-126)atC>atT	p.I42I	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Silent_p.I42I	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATAATGACATCCGTCTGGAGC	0.473																																					p.I42I		.											.	NRXN3-587	0			c.C126T						.						77.0	79.0	78.0					14																	79175583		2203	4300	6503	SO:0001819	synonymous_variant	9369	exon4			TGACATCCGTCTG	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.126C>T	14.37:g.79175583C>T		89	1		62	36	NM_004796	0	0	0	0	0	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	CCDS9870.1																																																																																			.		0.473	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	
PTPN21	11099	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	88971713	88971713	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:88971713C>A	ENST00000556564.1	-	5	735	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.D151Y	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	151	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCACCAAAATCCGCTATATAG	0.333																																					p.D151Y		.											.	PTPN21-230	0			c.G451T						.						86.0	91.0	89.0					14																	88971713		2203	4300	6503	SO:0001583	missense	11099	exon5			CAAAATCCGCTAT	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.451G>T	14.37:g.88971713C>A	ENSP00000452414:p.Asp151Tyr	153	0		123	8	NM_007039	0	0	0	0	0		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057208	0.76074	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.32988	1.43;1.43;1.43	5.18	5.18	0.71444	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.067817	0.64402	D	0.000018	T	0.59609	0.2206	M	0.79258	2.445	0.58432	D	0.999992	D;D	0.89917	0.993;1.0	D;D	0.97110	0.935;1.0	T	0.64179	-0.6468	10	0.87932	D	0	.	19.0658	0.93110	0.0:1.0:0.0:0.0	.	151;151	G3V3S6;Q16825	.;PTN21_HUMAN	Y	151	ENSP00000330276:D151Y;ENSP00000452414:D151Y;ENSP00000451401:D151Y	ENSP00000330276:D151Y	D	-	1	0	PTPN21	88041466	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.180000	0.77674	2.567000	0.86603	0.655000	0.94253	GAT	.		0.333	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		
SERPINA4	5267	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org|hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	95030148	95030149	+	Missense_Mutation	DNP	CC	CC	AG	rs141308668		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	|C	|C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:95030148_95030149CC>AG	ENST00000557004.1	+	2	750_751	c.329_330CC>AG	c.(328-330)aCC>aAG	p.T110K	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.T110K|SERPINA4_ENST00000298841.5_Missense_Mutation_p.T110K			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	110					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTCAACCTCACCGAGCTGTCTG	0.639																																					p.T110N|p.T110T		.											.	SERPINA4-230	0			c.C329A|c.C330G						.																																			SO:0001583	missense	5267	exon2			ACCTCACCGAGCT|CCTCACCGAGCTG	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	Exception_encountered	14.37:g.95030148_95030149delinsAG	ENSP00000450838:p.Thr110Lys	72	1|0		77|78	35|36	NM_006215	0	0	0	0	0	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation|Silent	SNP	ENST00000557004.1	37	CCDS9927.1																																																																																			.|C|1.000;T|0.000		0.639	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
SERPINA5	5104	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	95054239	95054239	+	Silent	SNP	G	G	A	rs146244413		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:95054239G>A	ENST00000554866.1	+	2	654	c.540G>A	c.(538-540)acG>acA	p.T180T	SERPINA5_ENST00000553780.1_Silent_p.T180T|SERPINA5_ENST00000329597.7_Silent_p.T180T|SERPINA5_ENST00000554276.1_Silent_p.T180T			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	180					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T180T(2)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAAAGCAAACGAAGGGCAAGA	0.483																																					p.T180T		.											.	SERPINA5-652	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G540A						.						129.0	114.0	119.0					14																	95054239		2203	4300	6503	SO:0001819	synonymous_variant	5104	exon3			GCAAACGAAGGGC	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.540G>A	14.37:g.95054239G>A		403	1		353	233	NM_000624	0	0	0	0	0	Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	CCDS9928.1																																																																																			G|0.999;A|0.001		0.483	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624	
SYNE3	161176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	95916424	95916424	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:95916424C>T	ENST00000334258.5	-	7	1307	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A	SYNE3_ENST00000557275.1_Silent_p.A431A|SYNE3_ENST00000554873.1_Silent_p.A188A|SYNE3_ENST00000553340.1_Silent_p.A431A	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	431					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TGCGCAGCCTCGCGCTCTTCA	0.642																																					p.A431A		.											.	.	0			c.G1293A						.						13.0	14.0	13.0					14																	95916424		2202	4293	6495	SO:0001819	synonymous_variant	161176	exon7			CAGCCTCGCGCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1293G>A	14.37:g.95916424C>T		120	0		179	36	NM_152592	0	0	0	0	0	A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	CCDS9935.1																																																																																			.		0.642	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592	
ATG2B	55102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	96813577	96813577	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:96813577C>A	ENST00000359933.4	-	2	1157	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	88					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CACAATTATCCTGCAGTAAAG	0.443																																					p.Q88H		.											.	ATG2B-93	0			c.G264T						.						102.0	103.0	102.0					14																	96813577		1947	4153	6100	SO:0001583	missense	55102	exon2			ATTATCCTGCAGT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.264G>T	14.37:g.96813577C>A	ENSP00000353010:p.Gln88His	97	0		71	46	NM_018036	0	0	0	0	0	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560331	0.45590	.	.	ENSG00000066739	ENST00000359933	D	0.82803	-1.65	5.39	3.22	0.36961	.	0.081159	0.50627	U	0.000119	T	0.73682	0.3618	L	0.27053	0.805	0.45528	D	0.998489	B	0.26512	0.151	B	0.27170	0.077	T	0.73525	-0.3955	10	0.66056	D	0.02	.	12.8757	0.57989	0.0:0.8445:0.0:0.1555	.	88	Q96BY7	ATG2B_HUMAN	H	88	ENSP00000353010:Q88H	ENSP00000353010:Q88H	Q	-	3	2	ATG2B	95883330	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.580000	0.46068	1.281000	0.44480	0.561000	0.74099	CAG	.		0.443	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
PAPOLA	10914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	97029218	97029218	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:97029218G>C	ENST00000216277.8	+	21	2350	c.2130G>C	c.(2128-2130)ctG>ctC	p.L710L	PAPOLA_ENST00000392990.2_Silent_p.L689L	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	710	Required for interaction with NUDT21.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CGGCTTCTCTGTTGGCCTCTC	0.403																																					p.L710L	NSCLC(19;254 734 11908 35501 39234)	.											.	PAPOLA-68	0			c.G2130C						.						105.0	108.0	107.0					14																	97029218		2203	4300	6503	SO:0001819	synonymous_variant	10914	exon21			TTCTCTGTTGGCC	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.2130G>C	14.37:g.97029218G>C		38	0		25	13	NM_032632	0	0	0	0	0	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Silent	SNP	ENST00000216277.8	37	CCDS9946.1																																																																																			.		0.403	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		
HHIPL1	84439	hgsc.bcm.edu	37	14	100141689	100141689	+	Missense_Mutation	SNP	T	T	C	rs7158073	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:100141689T>C	ENST00000330710.5	+	9	2173	c.2075T>C	c.(2074-2076)gTg>gCg	p.V692A		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	692	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.		V -> A (in dbSNP:rs7158073).		carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGGTGTTCGTGGGCGGACGC	0.746													T|||	2585	0.516174	0.3933	0.536	5008	,	,		7828	0.6131		0.5676	False		,,,				2504	0.5153				p.V692A		.											.	HHIPL1-70	0			c.T2075C						.	T	ALA/VAL	503,863		120,263,300	7.0	9.0	8.0		2075	-3.8	0.0	14	dbSNP_116	8	1711,1441		496,719,361	no	missense	HHIPL1	NM_001127258.1	64	616,982,661	CC,CT,TT		45.717,36.8228,49.004	benign	692/783	100141689	2214,2304	683	1576	2259	SO:0001583	missense	84439	exon9			TGTTCGTGGGCGG	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.2075T>C	14.37:g.100141689T>C	ENSP00000330601:p.Val692Ala	1	0		29	4	NM_001127258	0	0	0	0	0	A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	CCDS45162.1	1146	0.5247252747252747	201	0.40853658536585363	196	0.5414364640883977	347	0.6066433566433567	402	0.5303430079155673	T	4.106	0.017676	0.07959	0.368228	0.54283	ENSG00000182218	ENST00000330710	T	0.28895	1.59	4.74	-3.78	0.04333	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.00012	0.0000	N	0.17872	0.535	0.80722	P	0.0	B	0.02656	0.0	B	0.08055	0.003	T	0.47459	-0.9116	8	0.16420	T	0.52	.	1.8306	0.03130	0.1251:0.2661:0.1277:0.4811	rs7158073;rs57071746;rs7158073	692	Q96JK4	HIPL1_HUMAN	A	692	ENSP00000330601:V692A	ENSP00000330601:V692A	V	+	2	0	HHIPL1	99211442	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.153000	0.16323	-0.525000	0.06391	-0.468000	0.05107	GTG	T|0.478;C|0.522		0.746	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566	
RTL1	388015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	101351118	101351118	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:101351118T>C	ENST00000534062.1	-	1	66	c.8A>G	c.(7-9)gAa>gGa	p.E3G	MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	3					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TTCAGAGGGTTCTATCATTTC	0.498																																					p.E3G		.											.	RTL1-46	0			c.A8G						.						31.0	29.0	29.0					14																	101351118		1568	3582	5150	SO:0001583	missense	388015	exon1			GAGGGTTCTATCA		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.8A>G	14.37:g.101351118T>C	ENSP00000435342:p.Glu3Gly	99	0		100	66	NM_001134888	0	0	0	0	0	E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597619	0.66332	.	.	ENSG00000254656	ENST00000534062	T	0.38077	1.16	3.48	3.48	0.39840	.	.	.	.	.	T	0.42743	0.1216	N	0.24115	0.695	0.27809	N	0.942209	D	0.89917	1.0	D	0.79108	0.992	T	0.18178	-1.0345	9	0.87932	D	0	.	8.659	0.34081	0.0:0.0:0.0:1.0	.	3	E9PKS8	.	G	3	ENSP00000435342:E3G	ENSP00000435342:E3G	E	-	2	0	RTL1	100420871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.033000	0.49743	1.819000	0.53055	0.459000	0.35465	GAA	.		0.498	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888	
DIO3	1735	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	102028262	102028262	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:102028262C>G	ENST00000510508.4	+	1	575	c.429C>G	c.(427-429)ccC>ccG	p.P143P	DIO3_ENST00000359323.3_Silent_p.P117P|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	143					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TGGTTCTGCCCGACGGCTTCC	0.647																																					.		.											.	DIO3-494	0			.						.						40.0	45.0	43.0					14																	102028262		2030	4178	6208	SO:0001819	synonymous_variant	1735	.			TCTGCCCGACGGC	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.429C>G	14.37:g.102028262C>G		76	0		114	39	.	0	0	0	0	0	G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	CCDS41992.2																																																																																			.		0.647	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362	
EXOC3L4	91828	hgsc.bcm.edu	37	14	103568729	103568729	+	Silent	SNP	A	A	G	rs10142200	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:103568729A>G	ENST00000380069.3	+	2	745	c.669A>G	c.(667-669)gaA>gaG	p.E223E		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	223					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CGGAGGAGGAAGCCCACCCTT	0.756													G|||	2646	0.528355	0.5666	0.5303	5008	,	,		12079	0.6042		0.3917	False		,,,				2504	0.5378				p.E223E		.											.	EXOC3L4-23	0			c.A669G						.	G		2098,2000		603,892,554	5.0	5.0	5.0		669	2.5	0.8	14	dbSNP_119	5	2949,5055		663,1623,1716	no	coding-synonymous	EXOC3L4	NM_001077594.1		1266,2515,2270	GG,GA,AA		36.8441,48.8043,41.7039		223/723	103568729	5047,7055	2049	4002	6051	SO:0001819	synonymous_variant	91828	exon2			GGAGGAAGCCCAC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.669A>G	14.37:g.103568729A>G		0	0		7	7	NM_001077594	0	0	0	0	0	Q14CR2	Silent	SNP	ENST00000380069.3	37	CCDS32163.1																																																																																			A|0.486;G|0.514		0.756	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093	
MARK3	4140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	103931918	103931918	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:103931918G>A	ENST00000429436.2	+	8	1075	c.565G>A	c.(565-567)Gat>Aat	p.D189N	MARK3_ENST00000303622.9_Missense_Mutation_p.D189N|MARK3_ENST00000335102.5_Missense_Mutation_p.D212N|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.D212N|MARK3_ENST00000216288.7_Missense_Mutation_p.D189N|MARK3_ENST00000440884.3_Intron|MARK3_ENST00000553942.1_Missense_Mutation_p.D189N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GTTAGATGCCGATATGAACAT	0.363																																					p.D189N		.											.	MARK3-360	0			c.G565A						.						69.0	67.0	67.0					14																	103931918		1855	4099	5954	SO:0001583	missense	4140	exon8			GATGCCGATATGA	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.565G>A	14.37:g.103931918G>A	ENSP00000411397:p.Asp189Asn	56	0		55	13	NM_001128919	0	0	0	0	0	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902848	0.52227	.	.	ENSG00000075413	ENST00000335102;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	N	0.12569	0.235	0.80722	D	1	P;P;P;D;P	0.71674	0.76;0.711;0.571;0.998;0.502	B;B;B;D;B	0.67231	0.213;0.125;0.142;0.95;0.065	T	0.15292	-1.0442	10	0.33940	T	0.23	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	212;189;189;189;189	P27448-2;P27448-6;P27448;P27448-4;P27448-3	.;.;MARK3_HUMAN;.;.	N	212;212;189;189;189;189	ENSP00000335347:D212N;ENSP00000408092:D212N;ENSP00000411397:D189N;ENSP00000303698:D189N;ENSP00000216288:D189N;ENSP00000450772:D189N	ENSP00000216288:D189N	D	+	1	0	MARK3	103001671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	GAT	.		0.363	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918	
CKB	1152	hgsc.bcm.edu	37	14	103988180	103988180	+	Silent	SNP	G	G	T	rs1136165	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	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		6	6	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		
TDRD9	122402	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	104470600	104470600	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:104470600G>T	ENST00000409874.4	+	14	1557	c.1509G>T	c.(1507-1509)ggG>ggT	p.G503G	TDRD9_ENST00000339063.5_Silent_p.G503G	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	503	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGTCTAGAGGGTACTGTTACC	0.423																																					p.G503G		.											.	TDRD9-70	0			c.G1509T						.						113.0	87.0	96.0					14																	104470600		2203	4300	6503	SO:0001819	synonymous_variant	122402	exon14			TAGAGGGTACTGT	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1509G>T	14.37:g.104470600G>T		111	2		135	107	NM_153046	0	0	0	0	0	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Silent	SNP	ENST00000409874.4	37	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	G	8.148	0.786685	0.16189	.	.	ENSG00000156414	ENST00000557332	.	.	.	5.87	-10.6	0.00265	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57046	-0.7878	4	.	.	.	.	8.7082	0.34367	0.3618:0.4824:0.0878:0.068	.	.	.	.	L	230	.	.	V	+	1	0	TDRD9	103540353	0.037000	0.19845	0.018000	0.16275	0.852000	0.48524	-0.787000	0.04618	-2.223000	0.00726	-0.880000	0.02959	GTA	.		0.423	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	
ASPG	374569	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	104561948	104561948	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:104561948C>T	ENST00000551177.1	+	4	476	c.384C>T	c.(382-384)ttC>ttT	p.F128F	ASPG_ENST00000455920.2_Silent_p.F128F|ASPG_ENST00000546892.2_Silent_p.F128F	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	128	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGCTGTCCTTCATGCTGGAGA	0.627																																					p.F128F		.											.	.	0			c.C384T						.						67.0	73.0	71.0					14																	104561948		2121	4231	6352	SO:0001819	synonymous_variant	374569	exon4			GTCCTTCATGCTG		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.384C>T	14.37:g.104561948C>T		140	1		145	28	NM_001080464	0	0	0	0	0	B9EGQ2|Q8IV80	Silent	SNP	ENST00000551177.1	37	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	C	6.676	0.493292	0.12702	.	.	ENSG00000166183	ENST00000551170	.	.	.	4.13	1.21	0.21127	.	.	.	.	.	T	0.54838	0.1883	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43261	-0.9402	4	.	.	.	-25.9536	7.6401	0.28288	0.0:0.635:0.0:0.365	.	.	.	.	Y	65	.	.	H	+	1	0	ASPG	103631701	0.812000	0.29077	0.699000	0.30290	0.478000	0.33099	-0.040000	0.12104	0.012000	0.14892	0.455000	0.32223	CAT	.		0.627	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464	
KIF26A	26153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	104641745	104641745	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:104641745G>A	ENST00000423312.2	+	12	2620	c.2620G>A	c.(2620-2622)Ggg>Agg	p.G874R	KIF26A_ENST00000315264.7_Missense_Mutation_p.G735R	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	874					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)		CCCCGCCCGAGGGGGCCGGAA	0.706																																					p.G874R		.											.	KIF26A-24	0			c.G2620A						.						9.0	13.0	12.0					14																	104641745		1925	4077	6002	SO:0001583	missense	26153	exon12			GCCCGAGGGGGCC	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.2620G>A	14.37:g.104641745G>A	ENSP00000388241:p.Gly874Arg	22	0		120	26	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731090	0.48939	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78924	-1.22;-1.22	3.66	2.76	0.32466	.	.	.	.	.	T	0.71484	0.3345	L	0.55481	1.735	0.09310	N	1	B	0.23058	0.079	B	0.20767	0.031	T	0.61118	-0.7127	9	0.45353	T	0.12	.	9.6044	0.39624	0.1023:0.0:0.8977:0.0	.	874	Q9ULI4	KI26A_HUMAN	R	874;735	ENSP00000388241:G874R;ENSP00000325452:G735R	ENSP00000325452:G735R	G	+	1	0	KIF26A	103711498	0.227000	0.23707	0.002000	0.10522	0.064000	0.16182	3.083000	0.50136	0.636000	0.30508	0.462000	0.41574	GGG	.		0.706	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
KIF26A	26153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	104641876	104641876	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:104641876C>T	ENST00000423312.2	+	12	2751	c.2751C>T	c.(2749-2751)gcC>gcT	p.A917A	KIF26A_ENST00000315264.7_Silent_p.A778A	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	917					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)		CCTGCAAGGCCATTGTCTGGG	0.667																																					p.A917A		.											.	KIF26A-24	0			c.C2751T						.						13.0	16.0	15.0					14																	104641876		1976	4116	6092	SO:0001819	synonymous_variant	26153	exon12			CAAGGCCATTGTC	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.2751C>T	14.37:g.104641876C>T		32	0		62	11	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			.		0.667	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
AHNAK2	113146	broad.mit.edu;bcgsc.ca	37	14	105418991	105418991	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr14:105418991C>A	ENST00000333244.5	-	7	2916	c.2797G>T	c.(2797-2799)Ggc>Tgc	p.G933C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	933						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCTGGGGGCCCTTGAGGTCC	0.622																																					p.G933C		.											.	AHNAK2-47	0			c.G2797T						.						148.0	167.0	161.0					14																	105418991		1837	4080	5917	SO:0001583	missense	113146	exon7			GGGGGCCCTTGAG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2797G>T	14.37:g.105418991C>A	ENSP00000353114:p.Gly933Cys	204	2		226	146	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	8.410	0.843856	0.16963	.	.	ENSG00000185567	ENST00000333244	T	0.02656	4.21	3.0	3.0	0.34707	.	.	.	.	.	T	0.17238	0.0414	M	0.92169	3.28	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03981	-1.0987	9	0.52906	T	0.07	-9.1561	6.9921	0.24761	0.0:0.7794:0.0:0.2206	.	933	Q8IVF2	AHNK2_HUMAN	C	933	ENSP00000353114:G933C	ENSP00000353114:G933C	G	-	1	0	AHNAK2	104490036	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	-0.667000	0.05274	1.626000	0.50381	0.313000	0.20887	GGC	.		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
OR4M2	390538	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	22368578	22368578	+	Start_Codon_SNP	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:22368578G>T	ENST00000332663.2	+	1	101	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTGAAGAAATGGAAACTGCAA	0.328																																					p.M1I		.											.	OR4M2-69	0			c.G3T						.						151.0	137.0	142.0					15																	22368578		2203	4298	6501	SO:0001582	initiator_codon_variant	390538	exon1			AGAAATGGAAACT	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.3G>T	15.37:g.22368578G>T	ENSP00000329467:p.Met1Ile	99	0		81	11	NM_001004719	0	0	0	0	0	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	10.04	1.240427	0.22711	.	.	ENSG00000182974	ENST00000332663	T	0.01369	4.97	2.5	2.5	0.30297	.	0.000000	0.56097	D	0.000022	T	0.01695	0.0054	.	.	.	0.80722	D	1	B	0.28378	0.209	B	0.27887	0.084	T	0.57831	-0.7743	9	0.87932	D	0	-20.7999	10.8078	0.46529	0.0:0.0:1.0:0.0	.	1	Q8NGB6	OR4M2_HUMAN	I	1	ENSP00000329467:M1I	ENSP00000329467:M1I	M	+	3	0	OR4M2	19869942	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.454000	0.60068	1.422000	0.47177	0.448000	0.29417	ATG	.		0.328	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		Missense_Mutation
OR4M2	390538	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	22368613	22368613	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:22368613T>C	ENST00000332663.2	+	1	136	c.38T>C	c.(37-39)gTt>gCt	p.V13A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACAGAATTTGTTCTCACTGGC	0.328																																					p.V13A		.											.	OR4M2-69	0			c.T38C						.						235.0	209.0	218.0					15																	22368613		2203	4300	6503	SO:0001583	missense	390538	exon1			AATTTGTTCTCAC	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.38T>C	15.37:g.22368613T>C	ENSP00000329467:p.Val13Ala	176	0		133	34	NM_001004719	0	0	0	0	0	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	11.46	1.646664	0.29246	.	.	ENSG00000182974	ENST00000332663	T	0.00609	6.24	2.5	2.5	0.30297	.	0.551148	0.15107	N	0.280167	T	0.01287	0.0042	M	0.87617	2.895	0.24200	N	0.995512	B	0.26147	0.143	B	0.31390	0.129	T	0.19418	-1.0306	10	0.87932	D	0	-7.3293	8.5824	0.33637	0.0:0.0:0.0:1.0	.	13	Q8NGB6	OR4M2_HUMAN	A	13	ENSP00000329467:V13A	ENSP00000329467:V13A	V	+	2	0	OR4M2	19869977	0.921000	0.31238	0.999000	0.59377	0.701000	0.40568	4.602000	0.61098	1.167000	0.42706	0.368000	0.22195	GTT	.		0.328	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		
OR4M2	390538	ucsc.edu;bcgsc.ca	37	15	22369084	22369084	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:22369084G>T	ENST00000332663.2	+	1	607	c.509G>T	c.(508-510)gGg>gTg	p.G170V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTTTCTGTGGGCCCAATGAG	0.493																																					p.G170V		.											.	OR4M2-69	0			c.G509T						.						305.0	251.0	269.0					15																	22369084		2203	4300	6503	SO:0001583	missense	390538	exon1			TCTGTGGGCCCAA	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.509G>T	15.37:g.22369084G>T	ENSP00000329467:p.Gly170Val	610	3		576	118	NM_001004719	0	0	0	0	0	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	15.10	2.732703	0.48939	.	.	ENSG00000182974	ENST00000332663	T	0.38401	1.14	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000109	T	0.67031	0.2850	H	0.96691	3.865	0.51767	D	0.999937	D	0.89917	1.0	D	0.97110	1.0	T	0.71417	-0.4599	10	0.87932	D	0	-10.6483	6.6792	0.23111	0.0:0.0:0.7179:0.2821	.	170	Q8NGB6	OR4M2_HUMAN	V	170	ENSP00000329467:G170V	ENSP00000329467:G170V	G	+	2	0	OR4M2	19870448	0.635000	0.27199	0.998000	0.56505	0.991000	0.79684	2.139000	0.42149	1.422000	0.47177	0.448000	0.29417	GGG	.		0.493	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		
OR4N4	283694	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	22382866	22382866	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:22382866T>G	ENST00000328795.4	+	1	485	c.394T>G	c.(394-396)Tgt>Ggt	p.C132G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCCTCTGCACTGTTCAACTGT	0.532																																					p.C132G		.											.	OR4N4-73	0			c.T394G						.						194.0	169.0	177.0					15																	22382866		2190	4263	6453	SO:0001583	missense	283694	exon1			CTGCACTGTTCAA	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.394T>G	15.37:g.22382866T>G	ENSP00000332500:p.Cys132Gly	290	0		271	78	NM_001005241	0	0	0	0	0	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	4.549	0.102031	0.08731	.	.	ENSG00000183706	ENST00000328795	T	0.00419	7.48	3.2	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000450	T	0.00271	0.0008	L	0.27053	0.805	0.22500	N	0.999044	B	0.02656	0.0	B	0.01281	0.0	T	0.46512	-0.9186	10	0.87932	D	0	-2.1484	6.8344	0.23927	0.2081:0.0:0.0:0.7918	.	132	Q8N0Y3	OR4N4_HUMAN	G	132	ENSP00000332500:C132G	ENSP00000332500:C132G	C	+	1	0	OR4N4	19884230	1.000000	0.71417	0.311000	0.25182	0.070000	0.16714	5.638000	0.67861	0.387000	0.25024	0.155000	0.16302	TGT	.		0.532	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
OR4N3P	390539	hgsc.bcm.edu;bcgsc.ca	37	15	22414205	22414205	+	IGR	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:22414205delC								RP11-69H14.6 (30397 upstream) : RP11-2F9.4 (19684 downstream)																							TTGTTATATTCTTCATGTTTG	0.478																																					.		.											.	.	0			.						.																																			SO:0001628	intergenic_variant	390539	.			TATATTCTTCATG																													15.37:g.22414205delC		262	0		298	65	.	0	0	0	0	0		RNA	DEL		37																																																																																				.	0	0.478								
GOLGA6L1	283767	broad.mit.edu;mdanderson.org	37	15	22743430	22743430	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:22743430G>A	ENST00000560659.2	+	8	1665	c.1665G>A	c.(1663-1665)gaG>gaA	p.E555E	GOLGA6L1_ENST00000316397.3_Silent_p.E605E			Q8N7Z2	GG6L1_HUMAN	golgin A6 family-like 1	579										NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						gagagcaggaggagatgatgc	0.522																																					p.E605E		.											.	.	0			c.G1815A						.						1.0	1.0	1.0					15																	22743430		118	72	190	SO:0001819	synonymous_variant	283767	exon8			GCAGGAGGAGATG	AK097517	CCDS73699.1	15q11.2	2012-10-05	2010-02-12		ENSG00000197414	ENSG00000277865			37444	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 1"""				Standard	NM_001001413		Approved		uc010tzx.1	Q8N7Z2	OTTHUMG00000171883	ENST00000560659.2:c.1665G>A	15.37:g.22743430G>A		11	0		22	6	NM_001001413	0	0	0	0	0		Silent	SNP	ENST00000560659.2	37																																																																																				.		0.522	GOLGA6L1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000415616.2	NM_001001413	
TUBGCP5	114791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	22855078	22855078	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:22855078G>T	ENST00000283645.4	+	13	1669	c.1539G>T	c.(1537-1539)acG>acT	p.T513T	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.T513T	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	513					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CAACTTACACGTTATATAGCG	0.378																																					p.T513T		.											.	TUBGCP5-91	0			c.G1539T						.						63.0	61.0	61.0					15																	22855078		2203	4300	6503	SO:0001819	synonymous_variant	114791	exon13			TTACACGTTATAT	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1539G>T	15.37:g.22855078G>T		177	0		273	32	NM_052903	0	0	0	0	0	E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	CCDS10008.1																																																																																			.		0.378	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	
MAGEL2	54551	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	23889842	23889842	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:23889842G>T	ENST00000532292.1	-	1	1333	c.1239C>A	c.(1237-1239)ccC>ccA	p.P413P		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	296	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGGGAGACAAGGGCTGTGCCT	0.567																																					p.P1016P		.											.	.	0			c.C3048A						.						46.0	46.0	46.0					15																	23889842		2027	4187	6214	SO:0001819	synonymous_variant	54551	exon1			AGACAAGGGCTGT	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1239C>A	15.37:g.23889842G>T		171	1		175	30	NM_019066	0	0	0	0	0		Silent	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	G	0.008	-1.863680	0.00552	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.76	-7.51	0.01346	.	.	.	.	.	T	0.28333	0.0700	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37103	-0.9720	5	0.48119	T	0.1	.	3.7676	0.08629	0.2175:0.085:0.494:0.2036	.	.	.	.	H	445	.	ENSP00000433433:P445H	P	-	2	0	MAGEL2	21440935	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.766000	0.00782	-1.685000	0.01441	-1.292000	0.01352	CCT	.		0.567	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066	
GABRB3	2562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	26866612	26866612	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:26866612G>C	ENST00000311550.5	-	4	421	c.310C>G	c.(310-312)Ctc>Gtc	p.L104V	GABRB3_ENST00000299267.4_Missense_Mutation_p.L104V|GABRB3_ENST00000400188.3_Missense_Mutation_p.L33V|GABRB3_ENST00000545868.1_Missense_Mutation_p.L19V|GABRB3_ENST00000541819.2_Missense_Mutation_p.L160V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	104					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTGAGGTTGAGAGGGATCCCA	0.418																																					p.L104V		.											.	GABRB3-518	0			c.C310G						.						104.0	101.0	102.0					15																	26866612		2203	4300	6503	SO:0001583	missense	2562	exon4			GGTTGAGAGGGAT		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.310C>G	15.37:g.26866612G>C	ENSP00000308725:p.Leu104Val	85	0		74	10	NM_021912	0	0	0	0	0	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597035	0.46318	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	L	0.32530	0.975	0.80722	D	1	P;B;B	0.41420	0.749;0.168;0.367	B;B;B	0.38921	0.187;0.124;0.285	T	0.71797	-0.4484	10	0.41790	T	0.15	.	19.0679	0.93119	0.0:0.0:1.0:0.0	.	160;104;104	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	104;160;104;33;19;19	ENSP00000308725:L104V;ENSP00000442408:L160V;ENSP00000299267:L104V;ENSP00000383049:L33V;ENSP00000439169:L19V;ENSP00000452272:L19V	ENSP00000299267:L104V	L	-	1	0	GABRB3	24417705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.563000	0.73964	2.752000	0.94435	0.467000	0.42956	CTC	.		0.418	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
GABRA5	2558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	27182468	27182468	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:27182468C>A	ENST00000335625.5	+	8	1605	c.717C>A	c.(715-717)acC>acA	p.T239T	GABRA5_ENST00000355395.5_Silent_p.T239T|GABRA5_ENST00000400081.3_Silent_p.T239T|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	239					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	ACATCAGCACCAGCACAGGTG	0.642																																					p.T239T		.											.	GABRA5-91	0			c.C717A						.						48.0	52.0	50.0					15																	27182468		2147	4240	6387	SO:0001819	synonymous_variant	2558	exon8			CAGCACCAGCACA		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.717C>A	15.37:g.27182468C>A		118	0		154	86	NM_001165037	0	0	0	0	0	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	CCDS45194.1																																																																																			.		0.642	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
GABRG3	2567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	27572125	27572125	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:27572125C>A	ENST00000333743.6	+	4	694	c.440C>A	c.(439-441)cCc>cAc	p.P147H	GABRG3_ENST00000555083.1_Missense_Mutation_p.P147H	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	147					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCACCACACCCAATCAGCTC	0.453																																					p.P147H	NSCLC(114;800 1656 7410 37729 45293)	.											.	.	0			c.C440A						.						71.0	70.0	71.0					15																	27572125		1969	4181	6150	SO:0001583	missense	2567	exon4			CCACACCCAATCA		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.440C>A	15.37:g.27572125C>A	ENSP00000331912:p.Pro147His	116	0		106	46	NM_001270873	0	0	0	0	0	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506314	0.85282	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.79141	-1.24;-1.24;-1.24	5.79	5.79	0.91817	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.64676	1.99	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.81914	0.957;0.995	D	0.87617	0.2507	10	0.87932	D	0	.	19.0355	0.92976	0.0:1.0:0.0:0.0	.	147;147	Q99928;G3V594	GBRG3_HUMAN;.	H	147;147;89	ENSP00000331912:P147H;ENSP00000452244:P147H;ENSP00000451862:P89H	ENSP00000331912:P147H	P	+	2	0	GABRG3	25154871	1.000000	0.71417	0.953000	0.39169	0.752000	0.42762	7.561000	0.82288	2.722000	0.93159	0.655000	0.94253	CCC	.		0.453	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2		
APBA2	321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	29346205	29346205	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:29346205G>T	ENST00000558402.1	+	5	717	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	APBA2_ENST00000558330.1_Missense_Mutation_p.G40C|APBA2_ENST00000561069.1_Missense_Mutation_p.G40C|APBA2_ENST00000411764.1_Missense_Mutation_p.G40C|APBA2_ENST00000558259.1_Missense_Mutation_p.G40C			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	40					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCCTTGGAGGGCTATGTGCC	0.672																																					p.G40C		.											.	APBA2-90	0			c.G118T						.						45.0	52.0	50.0					15																	29346205		2203	4300	6503	SO:0001583	missense	321	exon3			TTGGAGGGCTATG	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.118G>T	15.37:g.29346205G>T	ENSP00000453293:p.Gly40Cys	234	0		289	74	NM_005503	0	0	0	0	0	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	9.572	1.121384	0.20877	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.46451	0.87	5.06	3.16	0.36331	.	0.782790	0.11840	N	0.524328	T	0.27205	0.0667	N	0.14661	0.345	0.20074	N	0.999938	P;P;P	0.39535	0.677;0.677;0.677	B;B;B	0.39419	0.299;0.28;0.28	T	0.10823	-1.0613	10	0.72032	D	0.01	.	7.5887	0.28008	0.2587:0.0:0.7413:0.0	.	40;40;40	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	C	40	ENSP00000409312:G40C	ENSP00000219865:G40C	G	+	1	0	APBA2	27133497	0.886000	0.30341	0.735000	0.30896	0.155000	0.21991	1.964000	0.40462	0.497000	0.27926	0.650000	0.86243	GGC	.		0.672	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503	
APBA2	321	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	29400511	29400511	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:29400511C>T	ENST00000558402.1	+	14	2555	c.1956C>T	c.(1954-1956)gtC>gtT	p.V652V	APBA2_ENST00000558330.1_Silent_p.V640V|APBA2_ENST00000561069.1_Silent_p.V652V|APBA2_ENST00000411764.1_Silent_p.V640V|APBA2_ENST00000558259.1_Silent_p.V652V			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	652	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TCAACATTGTCAGCTGTCCCC	0.582																																					p.V652V		.											.	APBA2-90	0			c.C1956T						.						178.0	144.0	156.0					15																	29400511		2203	4300	6503	SO:0001819	synonymous_variant	321	exon12			CATTGTCAGCTGT	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1956C>T	15.37:g.29400511C>T		120	1		123	16	NM_005503	0	0	0	0	0	E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																			.		0.582	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503	
TRPM1	4308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	31295069	31295069	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:31295069C>A	ENST00000256552.6	-	28	3981	c.3834G>T	c.(3832-3834)acG>acT	p.T1278T	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.T1295T|TRPM1_ENST00000397795.2_Silent_p.T1256T	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGAAGATACGTTGCCTCAC	0.453																																					p.T1295T		.											.	TRPM1-94	0			c.G3885T						.						93.0	94.0	94.0					15																	31295069		2073	4210	6283	SO:0001819	synonymous_variant	4308	exon27			AAGATACGTTGCC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3834G>T	15.37:g.31295069C>A		78	0		68	36	NM_001252020	0	0	0	0	0		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																			.		0.453	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
OTUD7A	161725	ucsc.edu;bcgsc.ca	37	15	31776739	31776739	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:31776739C>G	ENST00000307050.4	-	11	1631	c.1539G>C	c.(1537-1539)gtG>gtC	p.V513V	OTUD7A_ENST00000382902.1_Silent_p.V520V	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	513					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTTGTTGGCCACGGAGTCGG	0.602																																					p.V513V		.											.	OTUD7A-502	0			c.G1539C						.						84.0	67.0	73.0					15																	31776739		2200	4300	6500	SO:0001819	synonymous_variant	161725	exon11			GTTGGCCACGGAG	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1539G>C	15.37:g.31776739C>G		62	2		66	24	NM_130901	0	0	0	0	0	Q8IWK5	Silent	SNP	ENST00000307050.4	37	CCDS10026.1																																																																																			.		0.602	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901	
FMN1	342184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	33300216	33300216	+	Splice_Site	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:33300216T>A	ENST00000559047.1	-	4	2221	c.2222A>T	c.(2221-2223)cAg>cTg	p.Q741L	FMN1_ENST00000334528.9_Splice_Site_p.Q518L|FMN1_ENST00000561249.1_Splice_Site_p.Q643L			Q68DA7	FMN1_HUMAN	formin 1	741	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAGGCATACCTGCAGGTTTTC	0.353																																					p.Q518L		.											.	FMN1-23	0			c.A1553T						.						82.0	77.0	78.0					15																	33300216		1822	4072	5894	SO:0001630	splice_region_variant	342184	exon3			CATACCTGCAGGT	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2223+1A>T	15.37:g.33300216T>A		43	0		65	26	NM_001103184	0	0	0	0	0	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	T	15.49	2.850340	0.51270	.	.	ENSG00000248905	ENST00000334528	T	0.48201	0.82	5.14	5.14	0.70334	.	0.232696	0.44902	D	0.000406	T	0.64649	0.2617	M	0.68593	2.085	.	.	.	D	0.67145	0.996	D	0.77557	0.99	T	0.74399	-0.3678	9	0.66056	D	0.02	.	11.5263	0.50582	0.0:0.0:0.0:1.0	.	518	Q68DA7-5	.	L	518	ENSP00000333950:Q518L	ENSP00000333950:Q518L	Q	-	2	0	FMN1	31087508	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.988000	0.56951	2.285000	0.76669	0.533000	0.62120	CAG	.		0.353	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	Missense_Mutation
RYR3	6263	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	33944994	33944994	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:33944994C>A	ENST00000389232.4	+	32	4288	c.4218C>A	c.(4216-4218)aaC>aaA	p.N1406K	RYR3_ENST00000415757.3_Missense_Mutation_p.N1406K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1406	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCGGAGCAACGTGGACCTGG	0.552																																					p.N1406K		.											.	RYR3-520	0			c.C4218A						.						109.0	111.0	111.0					15																	33944994		2040	4206	6246	SO:0001583	missense	6263	exon32			GAGCAACGTGGAC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4218C>A	15.37:g.33944994C>A	ENSP00000373884:p.Asn1406Lys	330	2		316	66	NM_001243996	0	0	0	0	0	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	c	11.89	1.772751	0.31411	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.58797	0.31;0.31	5.52	-1.42	0.08913	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.052616	0.64402	D	0.000001	T	0.52240	0.1722	L	0.41710	1.295	0.49051	D	0.999746	B;P	0.47545	0.249;0.897	B;P	0.53593	0.081;0.73	T	0.45542	-0.9254	10	0.32370	T	0.25	.	7.7965	0.29150	0.0:0.1768:0.1394:0.6838	.	1406;1406	Q15413-2;Q15413	.;RYR3_HUMAN	K	1406	ENSP00000373884:N1406K;ENSP00000399610:N1406K	ENSP00000354735:N1406K	N	+	3	2	RYR3	31732286	0.062000	0.20869	0.997000	0.53966	0.992000	0.81027	-0.643000	0.05421	-0.098000	0.12285	-0.127000	0.14921	AAC	.		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	34111987	34111987	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:34111987C>A	ENST00000389232.4	+	77	10807	c.10737C>A	c.(10735-10737)tcC>tcA	p.S3579S	RYR3_ENST00000415757.3_Silent_p.S3574S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3579					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTACACCTCCTATTCCAGCA	0.358																																					p.S3579S		.											.	RYR3-520	0			c.C10737A						.						334.0	316.0	321.0					15																	34111987		1840	4094	5934	SO:0001819	synonymous_variant	6263	exon77			CACCTCCTATTCC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10737C>A	15.37:g.34111987C>A		90	0		103	26	NM_001036	0	0	0	0	0	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																			.		0.358	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
CHRM5	1133	ucsc.edu;bcgsc.ca	37	15	34355202	34355202	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:34355202G>T	ENST00000383263.5	+	3	954	c.284G>T	c.(283-285)cGc>cTc	p.R95L	CHRM5_ENST00000557872.1_Missense_Mutation_p.R95L	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	95					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R95H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTCATGGGACGCTGGGCTCTC	0.502																																					p.R95L		.											.	CHRM5-91	1	Substitution - Missense(1)	lung(1)	c.G284T						.						82.0	68.0	73.0					15																	34355202		2201	4298	6499	SO:0001583	missense	1133	exon3			TGGGACGCTGGGC		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.284G>T	15.37:g.34355202G>T	ENSP00000372750:p.Arg95Leu	181	2		190	78	NM_012125	0	0	0	0	0	Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418719	0.42918	.	.	ENSG00000184984	ENST00000383263	T	0.72942	-0.7	5.64	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.110824	0.64402	D	0.000007	T	0.67924	0.2945	M	0.73430	2.235	0.37504	D	0.916863	P	0.34699	0.464	B	0.41571	0.36	T	0.65158	-0.6236	10	0.20046	T	0.44	-12.6225	4.8627	0.13592	0.3657:0.0:0.6343:0.0	.	95	P08912	ACM5_HUMAN	L	95	ENSP00000372750:R95L	ENSP00000372750:R95L	R	+	2	0	CHRM5	32142494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.528000	0.60580	1.627000	0.50400	0.650000	0.86243	CGC	.		0.502	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2		
GPR176	11245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	40094026	40094026	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:40094026C>A	ENST00000561100.1	-	3	1720	c.855G>T	c.(853-855)ctG>ctT	p.L285L	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000299092.3_Silent_p.L284L|GPR176_ENST00000543580.1_Silent_p.L240L|GPR176_ENST00000560729.1_5'UTR	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	285					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGTAGACGACCAGGGTGGCAT	0.577											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L285L		.											.	GPR176-519	0			c.G855T						.						74.0	71.0	72.0					15																	40094026		2203	4300	6503	SO:0001819	synonymous_variant	11245	exon3			GACGACCAGGGTG	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.855G>T	15.37:g.40094026C>A		159	0	890	149	40	NM_007223	0	0	0	0	0	Q6NXF6	Silent	SNP	ENST00000561100.1	37	CCDS10051.1																																																																																			.		0.577	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223	
DISP2	85455	hgsc.bcm.edu	37	15	40660192	40660192	+	Silent	SNP	C	C	T	rs8040755	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:40660192C>T	ENST00000267889.3	+	8	1966	c.1879C>T	c.(1879-1881)Ctg>Ttg	p.L627L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	627	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CACGGCTGTGCTGGTGCACCT	0.746													C|||	218	0.0435304	0.0038	0.1066	5008	,	,		10666	0.0179		0.0984	False		,,,				2504	0.0225				p.L627L		.											.	DISP2-92	0			c.C1879T						.	C		81,4189		0,81,2054	5.0	5.0	5.0		1879	5.6	1.0	15	dbSNP_116	5	887,7489		41,805,3342	no	coding-synonymous	DISP2	NM_033510.1		41,886,5396	TT,TC,CC		10.5898,1.897,7.6546		627/1402	40660192	968,11678	2135	4188	6323	SO:0001819	synonymous_variant	85455	exon8			GCTGTGCTGGTGC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1879C>T	15.37:g.40660192C>T		1	0		19	16	NM_033510	0	0	0	0	0	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																			C|0.941;T|0.059		0.746	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510	
INO80	54617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	41272438	41272438	+	Missense_Mutation	SNP	G	G	A	rs545022339		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:41272438G>A	ENST00000361937.3	-	36	5078	c.4654C>T	c.(4654-4656)Ccc>Tcc	p.P1552S	INO80_ENST00000401393.3_Missense_Mutation_p.P1552S			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1552	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTCCAGAGGGGTTGGTGCCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20446	0.001		0.0	False		,,,				2504	0.0				p.P1552S		.											.	INO80-72	0			c.C4654T						.						137.0	127.0	131.0					15																	41272438		2203	4300	6503	SO:0001583	missense	54617	exon36			CAGAGGGGTTGGT	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.4654C>T	15.37:g.41272438G>A	ENSP00000355205:p.Pro1552Ser	67	0		70	16	NM_017553	0	0	0	0	0	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	4.460	0.085272	0.08583	.	.	ENSG00000128908	ENST00000263793;ENST00000361937;ENST00000401393	D;D	0.90069	-2.61;-2.61	5.4	2.56	0.30785	.	0.619093	0.17507	N	0.171777	T	0.70979	0.3286	N	0.08118	0	0.28090	N	0.931854	B	0.02656	0.0	B	0.01281	0.0	T	0.56300	-0.8002	10	0.09084	T	0.74	.	4.3863	0.11318	0.2417:0.0:0.5077:0.2505	.	1552	Q9ULG1	INO80_HUMAN	S	188;1552;1552	ENSP00000355205:P1552S;ENSP00000384686:P1552S	ENSP00000263793:P188S	P	-	1	0	INO80	39059730	0.985000	0.35326	0.882000	0.34594	0.986000	0.74619	0.895000	0.28363	0.427000	0.26145	0.655000	0.94253	CCC	.		0.577	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
MAPKBP1	23005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	42116197	42116197	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:42116197C>T	ENST00000456763.2	+	30	4365	c.4169C>T	c.(4168-4170)cCt>cTt	p.P1390L	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P1267L|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.P1384L|MAPKBP1_ENST00000514566.1_Intron|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P1223L|RP11-23P13.4_ENST00000512295.1_RNA	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1390	Poly-Pro.									breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCCCACCCCCTGAGAAGACT	0.637																																					p.P1390L		.											.	MAPKBP1-589	0			c.C4169T						.						71.0	79.0	77.0					15																	42116197		2203	4300	6503	SO:0001583	missense	23005	exon30			CACCCCCTGAGAA	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4169C>T	15.37:g.42116197C>T	ENSP00000393099:p.Pro1390Leu	41	0		41	8	NM_001128608	0	0	0	0	0	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	17.15	3.315691	0.60524	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763	T;T;T;T	0.44881	1.13;1.24;0.91;1.17	5.81	0.831	0.18860	.	0.704197	0.14924	N	0.290461	T	0.26085	0.0636	L	0.50333	1.59	0.35947	D	0.833617	B;B;B;B;B	0.13145	0.001;0.003;0.007;0.002;0.003	B;B;B;B;B	0.12837	0.003;0.004;0.004;0.004;0.008	T	0.26292	-1.0107	10	0.05959	T	0.93	-1.5204	2.511	0.04657	0.1021:0.4305:0.1504:0.317	.	1223;1267;1223;1390;1384	F8WC21;O60336-3;B4DYK7;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	L	1384;1267;1223;1390	ENSP00000397570:P1384L;ENSP00000221214:P1267L;ENSP00000260357:P1223L;ENSP00000393099:P1390L	ENSP00000221214:P1267L	P	+	2	0	MAPKBP1	39903489	0.098000	0.21812	0.910000	0.35882	0.990000	0.78478	-0.151000	0.10175	0.116000	0.18110	-0.150000	0.13652	CCT	.		0.637	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
SPTBN5	51332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	42158294	42158294	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:42158294C>A	ENST00000320955.6	-	38	6991	c.6764G>T	c.(6763-6765)cGg>cTg	p.R2255L	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2255					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGGAAGTTCCGCCTGTCCTC	0.667																																					p.R2220L		.											.	SPTBN5-91	0			c.G6659T						.						12.0	13.0	13.0					15																	42158294		1957	4116	6073	SO:0001583	missense	51332	exon38			AAGTTCCGCCTGT	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6764G>T	15.37:g.42158294C>A	ENSP00000317790:p.Arg2255Leu	56	0		68	11	NM_016642	0	0	0	0	0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	0.020	-1.435258	0.01108	.	.	ENSG00000137877	ENST00000320955	T	0.72167	-0.63	4.68	-0.767	0.11016	.	0.611589	0.14413	N	0.321164	T	0.67618	0.2912	M	0.76002	2.32	0.09310	N	1	P	0.48503	0.911	P	0.46172	0.506	T	0.60601	-0.7231	10	0.10902	T	0.67	.	9.8424	0.41006	0.0:0.6346:0.0:0.3654	.	2255	Q9NRC6	SPTN5_HUMAN	L	2255	ENSP00000317790:R2255L	ENSP00000317790:R2255L	R	-	2	0	SPTBN5	39945586	0.001000	0.12720	0.000000	0.03702	0.105000	0.19272	0.397000	0.20883	-0.479000	0.06813	-0.291000	0.09656	CGG	.		0.667	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
PLA2G4D	283748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	42364533	42364533	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:42364533G>A	ENST00000290472.3	-	14	1469	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	459	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TAGAGGGGCAGAGGGTTCTGA	0.572																																					p.L459L		.											.	PLA2G4D-136	0			c.C1375T						.						184.0	174.0	177.0					15																	42364533		2203	4299	6502	SO:0001819	synonymous_variant	283748	exon14			GGGGCAGAGGGTT	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1375C>T	15.37:g.42364533G>A		69	0		82	19	NM_178034	0	0	0	0	0	Q8N176	Silent	SNP	ENST00000290472.3	37	CCDS32203.1																																																																																			.		0.572	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034	
TMEM87A	25963	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	42503948	42503948	+	Splice_Site	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:42503948C>G	ENST00000389834.4	-	20	1891		c.e20-1		RP11-546B15.1_ENST00000561800.1_RNA|TMEM87A_ENST00000448392.1_Splice_Site|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A							integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TCATTCGTTCCTAGGGAAAAA	0.363																																					.		.											.	TMEM87A-91	0			c.1627-1G>C						.						195.0	190.0	192.0					15																	42503948		2203	4299	6502	SO:0001630	splice_region_variant	25963	exon21			TCGTTCCTAGGGA	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1627-1G>C	15.37:g.42503948C>G		50	0		45	10	NM_015497	0	0	0	0	0	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Splice_Site	SNP	ENST00000389834.4	37	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421548	0.25639	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4827	0.87677	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM87A	40291240	1.000000	0.71417	0.998000	0.56505	0.281000	0.26958	5.604000	0.67626	2.788000	0.95919	0.650000	0.86243	.	.		0.363	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497	Intron
TTBK2	146057	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	43120176	43120176	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:43120176C>A	ENST00000267890.6	-	6	595	c.487G>T	c.(487-489)Gat>Tat	p.D163Y	TTBK2_ENST00000567840.1_Missense_Mutation_p.D163Y|TTBK2_ENST00000567274.1_Intron	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AAGCCAAAATCAAGCATGTAA	0.328																																					p.D163Y		.											.	TTBK2-338	0			c.G487T						.						90.0	83.0	85.0					15																	43120176		1869	4107	5976	SO:0001583	missense	146057	exon6			CAAAATCAAGCAT	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.487G>T	15.37:g.43120176C>A	ENSP00000267890:p.Asp163Tyr	230	1		235	96	NM_173500	0	0	0	0	0	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303264	0.60195	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	D	0.93076	-3.16	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98504	0.9501	H	0.99391	4.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99655	1.0992	10	0.87932	D	0	.	19.4131	0.94683	0.0:1.0:0.0:0.0	.	94;163;163	Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;TTBK2_HUMAN	Y	163;93;143	ENSP00000267890:D163Y	ENSP00000263802:D143Y	D	-	1	0	TTBK2	40907468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.453000	0.80700	2.585000	0.87301	0.650000	0.86243	GAT	.		0.328	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500	
DUOX2	50506	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	45405235	45405235	+	Missense_Mutation	SNP	C	C	A	rs200434528		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:45405235C>A	ENST00000603300.1	-	3	312	c.110G>T	c.(109-111)cGc>cTc	p.R37L	DUOXA2_ENST00000323030.5_5'Flank|DUOX2_ENST00000389039.6_Missense_Mutation_p.R37L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	37	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCCGTCATAGCGCTGCACTTC	0.667																																					p.R37L		.											.	DUOX2-95	0			c.G110T						.						62.0	54.0	57.0					15																	45405235		2198	4298	6496	SO:0001583	missense	50506	exon3			TCATAGCGCTGCA	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.110G>T	15.37:g.45405235C>A	ENSP00000475084:p.Arg37Leu	138	2		168	62	NM_014080	0	0	0	0	0	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446780	0.96205	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87375	0.2353	9	0.59425	D	0.04	-20.6814	18.8314	0.92141	0.0:1.0:0.0:0.0	.	37	Q9NRD8	DUOX2_HUMAN	L	37	.	ENSP00000373691:R37L	R	-	2	0	DUOX2	43192527	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.567000	0.82357	2.700000	0.92200	0.462000	0.41574	CGC	C|0.999;A|0.001		0.667	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
DUOXA2	405753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	45409733	45409733	+	Intron	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:45409733G>A	ENST00000323030.5	+	6	1054				DUOXA1_ENST00000430224.2_Missense_Mutation_p.R433C|DUOXA1_ENST00000267803.4_Missense_Mutation_p.R478C|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R478C	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2						hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							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;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GGTGTGTGGCGGGAGGTAACA	0.517																																					p.R478C		.											.	DUOXA1-227	0			c.C1432T						.						42.0	46.0	45.0					15																	45409733		2176	4256	6432	SO:0001627	intron_variant	90527	exon11			TGTGGCGGGAGGT	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.770-181G>A	15.37:g.45409733G>A		140	0		110	52	NM_144565	0	0	0	0	0	B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854875	0.32791	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.61742	0.51;0.08	1.31	0.166	0.14999	.	.	.	.	.	T	0.27697	0.0681	N	0.08118	0	0.09310	N	1	P;P	0.35050	0.482;0.482	B;B	0.17722	0.019;0.019	T	0.13629	-1.0502	9	0.87932	D	0	.	4.3994	0.11379	0.0:0.0:0.5518:0.4482	.	433;478	B5M0C0;A8K9Q6	.;.	C	478;433	ENSP00000267803:R478C;ENSP00000415512:R433C	ENSP00000267803:R478C	R	-	1	0	DUOXA1	43197025	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.145000	0.16157	0.040000	0.15660	0.462000	0.41574	CGC	.		0.517	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581	
SLC24A5	283652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	48431348	48431348	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:48431348C>A	ENST00000341459.3	+	7	1127	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	SLC24A5_ENST00000449382.2_Missense_Mutation_p.L292M	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	352					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TACATATATCCTGGTTTGGAT	0.308																																					p.L352M		.											.	SLC24A5-90	0			c.C1054A						.						103.0	102.0	102.0					15																	48431348		2197	4290	6487	SO:0001583	missense	283652	exon7			TATATCCTGGTTT	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1054C>A	15.37:g.48431348C>A	ENSP00000341550:p.Leu352Met	70	0		46	20	NM_205850	0	0	0	0	0	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	8.507	0.865553	0.17250	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.71461	-0.57;-0.57	5.88	4.01	0.46588	Sodium/calcium exchanger membrane region (1);	0.062005	0.64402	D	0.000003	T	0.57814	0.2079	N	0.13235	0.315	0.58432	D	0.999991	D;D	0.53745	0.962;0.962	P;P	0.51866	0.611;0.682	T	0.57010	-0.7884	10	0.02654	T	1	.	12.624	0.56620	0.0:0.8662:0.0:0.1338	.	292;352	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	M	352;292	ENSP00000341550:L352M;ENSP00000389966:L292M	ENSP00000341550:L352M	L	+	1	2	SLC24A5	46218640	0.509000	0.26163	0.998000	0.56505	0.990000	0.78478	1.099000	0.31013	0.836000	0.34901	0.655000	0.94253	CTG	.		0.308	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850	
FBN1	2200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	48802361	48802361	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:48802361C>A	ENST00000316623.5	-	14	2049	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	532	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AAACACTCATCAATGTCTAAA	0.383																																					p.D532Y		.											.	FBN1-92	0			c.G1594T						.						72.0	66.0	68.0					15																	48802361		2197	4296	6493	SO:0001583	missense	2200	exon14			ACTCATCAATGTC	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1594G>T	15.37:g.48802361C>A	ENSP00000325527:p.Asp532Tyr	143	0		88	16	NM_000138	0	0	0	0	0	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835939	0.71373	.	.	ENSG00000166147	ENST00000316623	D	0.95656	-3.77	5.5	5.5	0.81552	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99364	1.0918	10	0.87932	D	0	.	18.3167	0.90224	0.0:1.0:0.0:0.0	.	532	P35555	FBN1_HUMAN	Y	532	ENSP00000325527:D532Y	ENSP00000325527:D532Y	D	-	1	0	FBN1	46589653	1.000000	0.71417	0.999000	0.59377	0.349000	0.29174	7.776000	0.85560	2.736000	0.93811	0.591000	0.81541	GAT	.		0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
SHC4	399694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	49135625	49135625	+	Silent	SNP	C	C	A	rs376641206		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:49135625C>A	ENST00000332408.4	-	10	1892	c.1464G>T	c.(1462-1464)ggG>ggT	p.G488G	SHC4_ENST00000396535.3_Silent_p.G245G|SHC4_ENST00000537958.1_Silent_p.G202G	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	488	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCCATGGGCTCCCCAGTGGTT	0.448																																					p.G488G		.											.	SHC4-95	0			c.G1464T						.	C		1,4393	2.1+/-5.4	0,1,2196	154.0	149.0	151.0		1464	1.9	0.9	15		151	0,8590		0,0,4295	no	coding-synonymous	SHC4	NM_203349.3		0,1,6491	AA,AC,CC		0.0,0.0228,0.0077		488/631	49135625	1,12983	2197	4295	6492	SO:0001819	synonymous_variant	399694	exon10			TGGGCTCCCCAGT	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1464G>T	15.37:g.49135625C>A		152	0		158	32	NM_203349	0	0	0	0	0	Q6UXQ3|Q8IYW3	Silent	SNP	ENST00000332408.4	37	CCDS10130.1																																																																																			.		0.448	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349	
DTWD1	56986	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	49926822	49926822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:49926822delC	ENST00000251250.6	+	5	705	c.498delC	c.(496-498)ggcfs	p.G166fs	DTWD1_ENST00000403028.3_Frame_Shift_Del_p.G166fs|DTWD1_ENST00000415425.1_Frame_Shift_Del_p.G79fs|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000558653.1_Frame_Shift_Del_p.G166fs	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	166										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		ATGTTAGAGGCAAAAATGATG	0.358																																					p.G166fs		.											.	DTWD1-226	0			c.498delC						.						55.0	58.0	57.0					15																	49926822		2196	4295	6491	SO:0001589	frameshift_variant	56986	exon4			TAGAGGCAAAAAT	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.498delC	15.37:g.49926822delC	ENSP00000251250:p.Gly166fs	162	0		96	21	NM_001144955	0	0	0	0	0	Q567Q3|Q8WVG9|Q9NRU6	Frame_Shift_Del	DEL	ENST00000251250.6	37	CCDS10132.1																																																																																			.		0.358	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234	
ATP8B4	79895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	50212566	50212566	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:50212566G>A	ENST00000284509.6	-	18	1941	c.1800C>T	c.(1798-1800)taC>taT	p.Y600Y	ATP8B4_ENST00000559829.1_Silent_p.Y600Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	600						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAGGTCTCTGTATGCGATGG	0.453																																					p.Y600Y		.											.	ATP8B4-140	0			c.C1800T						.						95.0	86.0	89.0					15																	50212566		2196	4295	6491	SO:0001819	synonymous_variant	79895	exon18			GTCTCTGTATGCG	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1800C>T	15.37:g.50212566G>A		101	0		116	32	NM_024837	0	0	0	0	0	Q9H727	Silent	SNP	ENST00000284509.6	37	CCDS32238.1																																																																																			.		0.453	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
TRPM7	54822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	50897135	50897135	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:50897135C>A	ENST00000313478.7	-	21	3197	c.2916G>T	c.(2914-2916)tgG>tgT	p.W972C	TRPM7_ENST00000560955.1_Missense_Mutation_p.W972C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	972					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AACGCACATACCAAAATATTA	0.328																																					p.W972C		.											.	TRPM7-392	0			c.G2916T						.						76.0	71.0	73.0					15																	50897135		1818	4079	5897	SO:0001583	missense	54822	exon21			CACATACCAAAAT	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2916G>T	15.37:g.50897135C>A	ENSP00000320239:p.Trp972Cys	182	0		134	47	NM_017672	0	0	0	0	0	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253489	0.80135	.	.	ENSG00000092439	ENST00000313478	T	0.74315	-0.83	5.63	5.63	0.86233	Ion transport (1);	0.059198	0.64402	D	0.000001	D	0.88440	0.6437	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.89820	0.3988	10	0.87932	D	0	-4.4907	19.6692	0.95905	0.0:1.0:0.0:0.0	.	972	Q96QT4	TRPM7_HUMAN	C	972	ENSP00000320239:W972C	ENSP00000320239:W972C	W	-	3	0	TRPM7	48684427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.648000	0.89879	0.585000	0.79938	TGG	.		0.328	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
TRPM7	54822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	50941083	50941083	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:50941083C>A	ENST00000313478.7	-	4	404		c.e4-1		TRPM7_ENST00000560955.1_Splice_Site	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7						actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACAAAAACACCTAAAAGAAAA	0.328																																					.		.											.	TRPM7-392	0			c.123-1G>T						.						48.0	41.0	43.0					15																	50941083		1785	4066	5851	SO:0001630	splice_region_variant	54822	exon5			AAACACCTAAAAG	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.123-1G>T	15.37:g.50941083C>A		23	0		19	5	NM_017672	0	0	0	0	0	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Splice_Site	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134603	0.77662	.	.	ENSG00000092439	ENST00000313478	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1315	0.86727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM7	48728375	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.285000	0.78660	2.282000	0.76494	0.591000	0.81541	.	.		0.328	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	Intron
UNC13C	440279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	54305438	54305438	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:54305438A>C	ENST00000260323.11	+	1	338	c.338A>C	c.(337-339)aAt>aCt	p.N113T	UNC13C_ENST00000545554.1_Missense_Mutation_p.N113T|UNC13C_ENST00000537900.1_Missense_Mutation_p.N113T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	113					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)		AACAGTGATAATGAGGATCTG	0.423																																					p.N113T		.											.	UNC13C-51	0			c.A338C						.						48.0	45.0	46.0					15																	54305438		1912	4136	6048	SO:0001583	missense	440279	exon1			GTGATAATGAGGA	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.338A>C	15.37:g.54305438A>C	ENSP00000260323:p.Asn113Thr	124	0		85	31	NM_001080534	0	0	0	0	0	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	6.902	0.535909	0.13188	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79845	-1.31;-1.31;-1.31	5.09	2.81	0.32909	.	.	.	.	.	T	0.68100	0.2964	N	0.24115	0.695	0.29732	N	0.837775	B	0.17667	0.023	B	0.23018	0.043	T	0.63143	-0.6703	9	0.54805	T	0.06	.	8.105	0.30881	0.835:0.0:0.165:0.0	.	113	Q8NB66	UN13C_HUMAN	T	113	ENSP00000260323:N113T;ENSP00000438156:N113T;ENSP00000442569:N113T	ENSP00000260323:N113T	N	+	2	0	UNC13C	52092730	1.000000	0.71417	0.501000	0.27601	0.006000	0.05464	7.454000	0.80714	0.792000	0.33850	0.533000	0.62120	AAT	.		0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
C2CD4A	145741	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	62359893	62359893	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:62359893C>A	ENST00000355522.5	+	2	222	c.81C>A	c.(79-81)cgC>cgA	p.R27R		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	27						nucleus (GO:0005634)											GTCGGGCCCGCGGAGCCAAGT	0.687																																					p.R27R		.											.	C2CD4A-68	0			c.C81A						.						17.0	20.0	19.0					15																	62359893		2200	4296	6496	SO:0001819	synonymous_variant	145741	exon2			GGCCCGCGGAGCC	AF504646	CCDS32258.1	15q22.2	2009-09-28	2009-09-28	2009-09-28		ENSG00000198535			33627	protein-coding gene	gene with protein product	"""nuclear localized factor 1"""	610343	"""family with sequence similarity 148, member A"""	FAM148A			Standard	NM_207322		Approved	NLF1	uc002ahf.4	Q8NCU7		ENST00000355522.5:c.81C>A	15.37:g.62359893C>A		34	0		77	38	NM_207322	0	0	0	0	0		Silent	SNP	ENST00000355522.5	37	CCDS32258.1																																																																																			.		0.687	C2CD4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416008.2	NM_207322	
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	63031744	63031744	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:63031744G>T	ENST00000561311.1	+	30	4115	c.3885G>T	c.(3883-3885)caG>caT	p.Q1295H	TLN2_ENST00000306829.6_Splice_Site_p.Q1295H|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1295					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCAAGCTCAGGTGGGTGTGG	0.522																																					p.Q1295H		.											.	TLN2-573	0			c.G3885T						.						107.0	98.0	101.0					15																	63031744		2203	4300	6503	SO:0001630	splice_region_variant	83660	exon28			AGCTCAGGTGGGT	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3885+1G>T	15.37:g.63031744G>T		128	0		155	74	NM_015059	0	0	0	0	0	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530355	0.64860	.	.	ENSG00000171914	ENST00000306829	T	0.15372	2.43	4.54	4.54	0.55810	.	0.051221	0.85682	D	0.000000	T	0.25306	0.0615	M	0.64997	1.995	0.80722	D	1	D	0.54397	0.966	P	0.48873	0.593	T	0.01084	-1.1457	10	0.49607	T	0.09	-14.4127	12.2536	0.54611	0.0925:0.0:0.9075:0.0	.	1295	Q9Y4G6	TLN2_HUMAN	H	1295	ENSP00000303476:Q1295H	ENSP00000303476:Q1295H	Q	+	3	2	TLN2	60819036	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.099000	0.50267	2.466000	0.83321	0.585000	0.79938	CAG	.		0.522	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		Missense_Mutation
LACTB	114294	hgsc.bcm.edu	37	15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	rs34317102	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4.0	4.0	4.0		13,13	3.1	1.0	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	0	0		9	9	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857	
VWA9	81556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	65884016	65884016	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:65884016T>A	ENST00000395644.4	-	9	1375	c.1040A>T	c.(1039-1041)aAc>aTc	p.N347I	VWA9_ENST00000567744.1_Missense_Mutation_p.N383I|VWA9_ENST00000442903.3_Missense_Mutation_p.N311I|VWA9_ENST00000420799.2_Missense_Mutation_p.N290I|VWA9_ENST00000313182.2_Missense_Mutation_p.N347I|VWA9_ENST00000569491.1_Missense_Mutation_p.N297I|VWA9_ENST00000431261.2_Missense_Mutation_p.N268I			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	347																	CATCATGAGGTTTGATTTCTT	0.468																																					p.N329I		.											.	.	0			c.A986T						.						141.0	121.0	127.0					15																	65884016		2201	4299	6500	SO:0001583	missense	81556	exon9			ATGAGGTTTGATT	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1040A>T	15.37:g.65884016T>A	ENSP00000379006:p.Asn347Ile	96	0		107	44	NM_001207058	0	0	0	0	0	B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37		.	.	.	.	.	.	.	.	.	.	T	31	5.061577	0.93846	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.81048	-0.1109	9	0.87932	D	0	-28.8381	16.5582	0.84512	0.0:0.0:0.0:1.0	.	297;311;383;347	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	I	347;347;268;290;311	.	ENSP00000326379:N347I	N	-	2	0	C15orf44	63671069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.967000	0.87967	2.308000	0.77769	0.533000	0.62120	AAC	.		0.468	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800	
NOX5	79400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	69347714	69347714	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:69347714G>T	ENST00000388866.3	+	15	2081	c.2040G>T	c.(2038-2040)ctG>ctT	p.L680L	NOX5_ENST00000260364.5_Silent_p.L662L|NOX5_ENST00000455873.3_Silent_p.L645L|NOX5_ENST00000530406.2_Silent_p.L652L|NOX5_ENST00000448182.3_Silent_p.L634L	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	680					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CATCTGCACTGGGCAAGAATG	0.592																																					p.L680L		.											.	NOX5-136	0			c.G2040T						.						61.0	52.0	55.0					15																	69347714		2200	4298	6498	SO:0001819	synonymous_variant	79400	exon15			TGCACTGGGCAAG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2040G>T	15.37:g.69347714G>T		199	0		161	32	NM_024505	0	0	0	0	0	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	CCDS32276.2																																																																																			.		0.592	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505	
PKM	5315	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	72502105	72502105	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:72502105C>A	ENST00000335181.5	-	5	577	c.474G>T	c.(472-474)tgG>tgT	p.W158C	PKM_ENST00000449901.2_Missense_Mutation_p.W143C|PKM_ENST00000389093.3_Missense_Mutation_p.W158C|PKM_ENST00000319622.6_Missense_Mutation_p.W158C|PKM_ENST00000568883.1_Intron|PKM_ENST00000568459.1_Missense_Mutation_p.W158C|PKM_ENST00000565184.1_Missense_Mutation_p.W158C|PKM_ENST00000565154.1_Missense_Mutation_p.W158C	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	158					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	TGTAGTCCAGCCACAGGATGT	0.512																																					p.W232C		.											.	.	0			c.G696T						.						240.0	208.0	219.0					15																	72502105		2199	4297	6496	SO:0001583	missense	5315	exon6			GTCCAGCCACAGG	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.474G>T	15.37:g.72502105C>A	ENSP00000334983:p.Trp158Cys	154	0		124	55	NM_001206796	0	0	0	0	0	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860628	0.91433	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000389093;ENST00000449901	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.47	5.47	0.80525	Pyruvate/Phosphoenolpyruvate kinase (1);Pyruvate kinase, beta-barrel insert domain (1);Pyruvate kinase-like, insert domain (1);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.92469	0.7609	L	0.39633	1.23	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;0.998;1.0;0.991;0.996;1.0	D	0.92781	0.6240	10	0.66056	D	0.02	-8.7958	19.6948	0.96021	0.0:1.0:0.0:0.0	.	84;143;138;138;158;158	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2	.;.;.;.;KPYM_HUMAN;.	C	158;158;85;158;143	ENSP00000320171:W158C;ENSP00000334983:W158C;ENSP00000373745:W158C;ENSP00000403365:W143C	ENSP00000320171:W158C	W	-	3	0	PKM2	70289159	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.760000	0.85248	2.723000	0.93209	0.655000	0.94253	TGG	.		0.512	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1		
TBC1D2B	23102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	78290603	78290603	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:78290603C>T	ENST00000300584.3	-	13	2790	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_Nonsense_Mutation_p.W913*|RP11-114H24.6_ENST00000562716.1_RNA	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	931							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TCGGTCAGCTCCAGCCGGACT	0.612																																					p.W913X		.											.	TBC1D2B-136	0			c.G2739A						.						37.0	30.0	33.0					15																	78290603		2196	4291	6487	SO:0001583	missense	23102	exon13			TCAGCTCCAGCCG	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2791G>A	15.37:g.78290603C>T	ENSP00000300584:p.Glu931Lys	233	0		210	41	NM_015079	0	0	0	0	0	A7MD42|Q8N1F9|Q9NXM0	Nonsense_Mutation	SNP	ENST00000300584.3	37	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	35|35	5.586293|5.586293	0.96578|0.96578	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000300584|ENST00000418039;ENST00000409931	T|.	0.11063|.	2.81|.	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	.|1.814360	.|0.03602	.|N	.|0.233481	T|.	0.76414|.	0.3984|.	.|.	.|.	.|.	0.42902|0.42902	D|D	0.994237|0.994237	D|.	0.76494|.	0.999|.	D|.	0.65140|.	0.932|.	T|.	0.62728|.	-0.6793|.	8|.	0.59425|0.66056	D|D	0.04|0.02	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	931|.	Q9UPU7|.	TBD2B_HUMAN|.	K|X	931|812;913	ENSP00000300584:E931K|.	ENSP00000300584:E931K|ENSP00000387165:W913X	E|W	-|-	1|3	0|0	TBC1D2B|TBC1D2B	76077658|76077658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.065000|0.065000	0.16274|0.16274	7.726000|7.726000	0.84824|0.84824	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAG|TGG	.		0.612	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079	
ADAMTS7	11173	hgsc.bcm.edu	37	15	79051801	79051801	+	Missense_Mutation	SNP	C	C	A	rs201472223		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:79051801C>A	ENST00000388820.4	-	24	5233	c.5023G>T	c.(5023-5025)Gcc>Tcc	p.A1675S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1675					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGGGAGGGGGCGCCGTGGCTG	0.721																																					p.A1675S		.											.	ADAMTS7-226	0			c.G5023T						.						7.0	9.0	9.0					15																	79051801		2082	4133	6215	SO:0001583	missense	11173	exon24			AGGGGGCGCCGTG	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.5023G>T	15.37:g.79051801C>A	ENSP00000373472:p.Ala1675Ser	1	0		96	28	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	1.406	-0.576936	0.03854	.	.	ENSG00000136378	ENST00000388820	T	0.59502	0.26	2.92	0.947	0.19555	.	2.418420	0.02155	U	0.058341	T	0.39627	0.1085	N	0.19112	0.55	0.09310	N	1	B	0.25007	0.116	B	0.23150	0.044	T	0.16600	-1.0397	10	0.09590	T	0.72	.	6.0212	0.19630	0.0:0.7622:0.0:0.2378	.	1675	Q9UKP4	ATS7_HUMAN	S	1675	ENSP00000373472:A1675S	ENSP00000373472:A1675S	A	-	1	0	ADAMTS7	76838856	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.624000	0.24462	0.111000	0.17947	-2.153000	0.00332	GCC	.		0.721	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
ADAMTS7	11173	hgsc.bcm.edu	37	15	79051846	79051846	+	Missense_Mutation	SNP	T	T	C	rs199524707		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:79051846T>C	ENST00000388820.4	-	24	5188	c.4978A>G	c.(4978-4980)Atc>Gtc	p.I1660V		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1660	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGGGTGCGGATGGTGGGCAGC	0.721																																					p.I1660V		.											.	ADAMTS7-226	0			c.A4978G						.						9.0	11.0	10.0					15																	79051846		2122	4204	6326	SO:0001583	missense	11173	exon24			TGCGGATGGTGGG	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4978A>G	15.37:g.79051846T>C	ENSP00000373472:p.Ile1660Val	25	0		109	9	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.471801	0.00167	.	.	ENSG00000136378	ENST00000388820	T	0.56941	0.43	2.92	-0.818	0.10833	PLAC (1);	0.176997	0.36002	N	0.002857	T	0.17066	0.0410	N	0.01874	-0.695	0.24807	N	0.992664	B	0.02656	0.0	B	0.01281	0.0	T	0.33292	-0.9874	10	0.02654	T	1	.	7.4446	0.27203	0.0:0.6997:0.0:0.3003	.	1660	Q9UKP4	ATS7_HUMAN	V	1660	ENSP00000373472:I1660V	ENSP00000373472:I1660V	I	-	1	0	ADAMTS7	76838901	0.463000	0.25799	0.157000	0.22605	0.002000	0.02628	0.822000	0.27352	-0.289000	0.09038	-0.830000	0.03078	ATC	.		0.721	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
RASGRF1	5923	broad.mit.edu;bcgsc.ca	37	15	79290536	79290536	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:79290536G>A	ENST00000419573.3	-	20	3190	c.2916C>T	c.(2914-2916)aaC>aaT	p.N972N	RASGRF1_ENST00000558480.2_Silent_p.N956N|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Silent_p.N188N	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	972					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGAGCTCATCGTTGGTCTCAA	0.577																																					p.N972N		.											.	RASGRF1-662	0			c.C2916T						.						142.0	113.0	123.0					15																	79290536		2196	4293	6489	SO:0001819	synonymous_variant	5923	exon20			CTCATCGTTGGTC	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2916C>T	15.37:g.79290536G>A		238	0		244	8	NM_002891	0	0	0	0	0	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																			.		0.577	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
ANKRD34C	390616	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	79585642	79585642	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:79585642A>T	ENST00000558647.2	+	1	16	c.16A>T	c.(16-18)Act>Tct	p.T6S	ANKRD34C_ENST00000421388.2_Missense_Mutation_p.T6S			P0C6C1	AN34C_HUMAN	ankyrin repeat domain 34C	6										endometrium(3)|kidney(1)|skin(1)	5						GGATGATGACACTGAATTAAG	0.438																																					p.T6S		.											.	.	0			c.A16T						.						159.0	129.0	138.0					15																	79585642		685	1584	2269	SO:0001583	missense	390616	exon2			GATGACACTGAAT		CCDS53965.1	15q25.1	2013-01-10			ENSG00000235711	ENSG00000235711		"""Ankyrin repeat domain containing"""	33888	protein-coding gene	gene with protein product							Standard	NM_001146341		Approved		uc002bet.3	P0C6C1		ENST00000558647.2:c.16A>T	15.37:g.79585642A>T	ENSP00000454921:p.Thr6Ser	190	1		191	80	NM_001146341	0	0	0	0	0	H3BNM1	Missense_Mutation	SNP	ENST00000558647.2	37	CCDS53965.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.664494	0.00765	.	.	ENSG00000235711	ENST00000421388	T	0.25749	1.78	4.36	3.22	0.36961	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.11665	0.0284	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.16289	0.015	T	0.35151	-0.9800	9	0.12103	T	0.63	.	3.7666	0.08624	0.7101:0.0:0.1001:0.1898	.	6	P0C6C1	AN34C_HUMAN	S	6	ENSP00000401089:T6S	ENSP00000401089:T6S	T	+	1	0	ANKRD34C	77372697	0.573000	0.26676	0.586000	0.28679	0.035000	0.12851	3.064000	0.49986	0.786000	0.33708	-0.327000	0.08410	ACT	.		0.438	ANKRD34C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416713.2	NM_001146341	
KIAA1024	23251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	79749156	79749156	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:79749156G>C	ENST00000305428.3	+	2	742	c.667G>C	c.(667-669)Gag>Cag	p.E223Q		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	223						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CATCGAAAACGAGTCCATTTC	0.547																																					p.E223Q		.											.	KIAA1024-183	0			c.G667C						.						83.0	84.0	83.0					15																	79749156		2196	4293	6489	SO:0001583	missense	23251	exon2			GAAAACGAGTCCA	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.667G>C	15.37:g.79749156G>C	ENSP00000307461:p.Glu223Gln	148	0		158	41	NM_015206	0	0	0	0	0	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246555	0.39697	.	.	ENSG00000169330	ENST00000305428	T	0.35605	1.3	5.37	5.37	0.77165	.	0.103760	0.64402	D	0.000004	T	0.31575	0.0801	L	0.52364	1.645	0.58432	D	0.99999	P	0.34757	0.467	B	0.29077	0.098	T	0.07158	-1.0787	9	.	.	.	.	14.689	0.69070	0.0:0.145:0.855:0.0	.	223	Q9UPX6	K1024_HUMAN	Q	223	ENSP00000307461:E223Q	.	E	+	1	0	KIAA1024	77536211	1.000000	0.71417	0.368000	0.25939	0.855000	0.48748	7.023000	0.76437	2.497000	0.84241	0.591000	0.81541	GAG	.		0.547	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
ST20	400410	ucsc.edu;bcgsc.ca;mdanderson.org	37	15	80216464	80216464	+	5'Flank	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:80216464G>T	ENST00000485386.1	-	0	0				ST20-MTHFS_ENST00000494999.1_5'Flank|C15orf37_ENST00000560255.1_3'UTR|C15ORF37_ENST00000542003.1_3'UTR|ST20-MTHFS_ENST00000479961.1_5'Flank			Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20						extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTCCGGTCCGGATCTCGAGTA	0.562																																					.		.											.	.	0			.						.																																			SO:0001631	upstream_gene_variant	283687	.			GGTCCGGATCTCG	AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5			15.37:g.80216464G>T	Exception_encountered	86	0		73	33	.	0	0	0	0	0		RNA	SNP	ENST00000485386.1	37	CCDS42067.1																																																																																			.		0.562	ST20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416729.1		
ARNT2	9915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	80767372	80767372	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:80767372G>C	ENST00000303329.4	+	5	595	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	ARNT2_ENST00000527771.1_Missense_Mutation_p.E133Q|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000533983.1_Missense_Mutation_p.E133Q	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	144	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TCTCATCCTTGAAGCAGCTGA	0.463																																					p.E144Q		.											.	ARNT2-175	0			c.G430C						.						274.0	277.0	276.0					15																	80767372		2203	4300	6503	SO:0001583	missense	9915	exon5			ATCCTTGAAGCAG	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.430G>C	15.37:g.80767372G>C	ENSP00000307479:p.Glu144Gln	67	0		47	20	NM_014862	0	0	0	0	0	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650070	0.87958	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.04862	3.54	4.65	4.65	0.58169	PAS (2);Helix-loop-helix DNA-binding (1);PAS fold (1);	0.101623	0.64402	D	0.000003	T	0.17959	0.0431	L	0.40543	1.245	0.80722	D	1	P;P	0.52061	0.938;0.95	D;P	0.69824	0.966;0.817	T	0.01084	-1.1457	10	0.42905	T	0.14	.	17.7295	0.88373	0.0:0.0:1.0:0.0	.	144;144	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	Q	133;144;144	ENSP00000307479:E144Q	ENSP00000307479:E144Q	E	+	1	0	ARNT2	78554427	1.000000	0.71417	0.708000	0.30435	0.988000	0.76386	8.792000	0.91856	2.404000	0.81709	0.549000	0.68633	GAA	.		0.463	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
ARNT2	9915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	80800576	80800576	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:80800576G>A	ENST00000303329.4	+	6	867	c.702G>A	c.(700-702)cgG>cgA	p.R234R	ARNT2_ENST00000527771.1_Silent_p.R223R|ARNT2_ENST00000533983.1_Silent_p.R223R	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	234					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGGGCTCGCGGCGGTCTTTCA	0.547																																					p.R234R		.											.	ARNT2-175	0			c.G702A						.						107.0	93.0	98.0					15																	80800576		2203	4300	6503	SO:0001819	synonymous_variant	9915	exon6			CTCGCGGCGGTCT	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.702G>A	15.37:g.80800576G>A		137	0		128	65	NM_014862	0	0	0	0	0	B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	CCDS32307.1																																																																																			.		0.547	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
ARNT2	9915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	80869292	80869292	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:80869292C>A	ENST00000303329.4	+	15	1764	c.1599C>A	c.(1597-1599)tcC>tcA	p.S533S	ARNT2_ENST00000527771.1_Silent_p.S522S|ARNT2_ENST00000533983.1_Silent_p.S522S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	533					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTGGACACTCCGGGAAGGCCT	0.577																																					p.S533S		.											.	ARNT2-175	0			c.C1599A						.						99.0	90.0	93.0					15																	80869292		2203	4300	6503	SO:0001819	synonymous_variant	9915	exon15			ACACTCCGGGAAG	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1599C>A	15.37:g.80869292C>A		121	0		128	22	NM_014862	0	0	0	0	0	B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	CCDS32307.1																																																																																			.		0.577	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
CEMIP	57214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	81218065	81218065	+	Missense_Mutation	SNP	C	C	A	rs376686079		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:81218065C>A	ENST00000394685.3	+	19	2808	c.2389C>A	c.(2389-2391)Cgc>Agc	p.R797S	KIAA1199_ENST00000220244.3_Missense_Mutation_p.R797S|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R797S			Q8WUJ3	CEMIP_HUMAN		797					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGCCTGGCTGCGCGGCGGGGA	0.657																																					p.R797S		.											.	KIAA1199-93	0			c.C2389A						.						26.0	30.0	29.0					15																	81218065		2202	4299	6501	SO:0001583	missense	57214	exon18			TGGCTGCGCGGCG																												ENST00000394685.3:c.2389C>A	15.37:g.81218065C>A	ENSP00000378177:p.Arg797Ser	100	0		131	61	NM_018689	0	0	0	0	0	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974846	0.74360	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.60920	0.15;0.15;0.15	4.55	4.55	0.56014	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.90977	3.165	0.49130	D	0.999754	D	0.89917	1.0	D	0.81914	0.995	D	0.84151	0.0423	10	0.45353	T	0.12	-21.304	17.4776	0.87664	0.0:1.0:0.0:0.0	.	797	Q8WUJ3	K1199_HUMAN	S	797	ENSP00000220244:R797S;ENSP00000378177:R797S;ENSP00000348583:R797S	ENSP00000220244:R797S	R	+	1	0	KIAA1199	79005120	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	0.897000	0.28390	2.348000	0.79779	0.462000	0.41574	CGC	.		0.657	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
CEMIP	57214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	81224296	81224296	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:81224296C>A	ENST00000394685.3	+	22	3128	c.2709C>A	c.(2707-2709)acC>acA	p.T903T	KIAA1199_ENST00000220244.3_Silent_p.T903T|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.T903T			Q8WUJ3	CEMIP_HUMAN		903					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCCGGCACACCAGCGCCCTGG	0.547																																					p.T903T		.											.	KIAA1199-93	0			c.C2709A						.						88.0	99.0	95.0					15																	81224296		2203	4300	6503	SO:0001819	synonymous_variant	57214	exon21			GCACACCAGCGCC																												ENST00000394685.3:c.2709C>A	15.37:g.81224296C>A		86	0		55	20	NM_018689	0	0	0	0	0	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																			.		0.547	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
FAM154B	283726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	82574573	82574573	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:82574573C>T	ENST00000339465.5	+	3	436	c.367C>T	c.(367-369)Cct>Tct	p.P123S	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.P108S	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	123										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TGATTTTGTTCCTCAGGAGAT	0.393																																					p.P123S		.											.	FAM154B-70	0			c.C367T						.						126.0	128.0	127.0					15																	82574573		2203	4300	6503	SO:0001583	missense	283726	exon3			TTTGTTCCTCAGG	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.367C>T	15.37:g.82574573C>T	ENSP00000340445:p.Pro123Ser	134	0		140	15	NM_001008226	0	0	0	0	0	B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.137934	0.37728	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.17054	2.3;2.3	3.9	3.9	0.45041	.	0.161882	0.41097	D	0.000942	T	0.39655	0.1086	M	0.79475	2.455	0.34548	D	0.711003	D;D	0.89917	0.997;1.0	D;D	0.77557	0.969;0.99	T	0.51156	-0.8741	10	0.12103	T	0.63	-14.0358	16.4015	0.83642	0.0:1.0:0.0:0.0	.	108;123	B4E2M2;Q658L1	.;F154B_HUMAN	S	123;108	ENSP00000340445:P123S;ENSP00000403743:P108S	ENSP00000340445:P123S	P	+	1	0	FAM154B	80361628	0.980000	0.34600	0.061000	0.19648	0.739000	0.42172	3.608000	0.54109	2.158000	0.67659	0.536000	0.68110	CCT	.		0.393	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226	
AKAP13	11214	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	86124843	86124843	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:86124843G>A	ENST00000394518.2	+	7	3639	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K	AKAP13_ENST00000361243.2_Missense_Mutation_p.E1182K|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1182					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AATAGACGATGAAGCACATCC	0.562																																					p.E1182K	Melanoma(94;603 1453 3280 32295 32951)	.											.	AKAP13-258	0			c.G3544A						.						81.0	80.0	80.0					15																	86124843		2202	4299	6501	SO:0001583	missense	11214	exon7			GACGATGAAGCAC	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3544G>A	15.37:g.86124843G>A	ENSP00000378026:p.Glu1182Lys	152	0		139	22	NM_007200	0	0	0	0	0	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942539	0.34283	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.15487	2.42;2.42	5.11	-1.31	0.09230	.	.	.	.	.	T	0.08044	0.0201	N	0.17082	0.46	0.09310	N	1	B;P	0.36535	0.421;0.557	B;B	0.33620	0.08;0.167	T	0.29941	-0.9995	9	0.33141	T	0.24	.	4.8945	0.13744	0.4445:0.1528:0.4027:0.0	.	1182;1182	Q12802;Q12802-2	AKP13_HUMAN;.	K	1182;1182;1181;1181	ENSP00000354718:E1182K;ENSP00000378026:E1182K	ENSP00000354718:E1182K	E	+	1	0	AKAP13	83925847	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.229000	0.17833	-0.302000	0.08869	-0.145000	0.13849	GAA	.		0.562	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
KLHL25	64410	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	86312878	86312878	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:86312878C>A	ENST00000337975.5	-	2	438	c.164G>T	c.(163-165)cGt>cTt	p.R55L	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.R55L	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	55	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GGGGAAGGCACGGTCGCCCGC	0.632																																					p.R55L		.											.	KLHL25-92	0			c.G164T						.						54.0	54.0	54.0					15																	86312878		2202	4299	6501	SO:0001583	missense	64410	exon2			AAGGCACGGTCGC		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.164G>T	15.37:g.86312878C>A	ENSP00000336800:p.Arg55Leu	210	0		213	50	NM_022480	0	0	0	0	0	B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435761	0.62955	.	.	ENSG00000183655	ENST00000337975;ENST00000536947	T;T	0.67698	-0.28;-0.28	4.85	4.85	0.62838	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.72353	2.195	0.50313	D	0.999867	B	0.27450	0.179	B	0.33690	0.168	T	0.69669	-0.5083	10	0.42905	T	0.14	.	16.9559	0.86259	0.0:1.0:0.0:0.0	.	55	Q9H0H3	ENC2_HUMAN	L	55	ENSP00000336800:R55L;ENSP00000444739:R55L	ENSP00000336800:R55L	R	-	2	0	KLHL25	84113882	1.000000	0.71417	0.997000	0.53966	0.805000	0.45488	4.880000	0.63107	2.247000	0.74100	0.462000	0.41574	CGT	.		0.632	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480	
AGBL1	123624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	86697774	86697774	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:86697774C>A	ENST00000441037.2	+	3	333	c.238C>A	c.(238-240)Cgt>Agt	p.R80S	AGBL1_ENST00000421325.2_Missense_Mutation_p.R80S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	80					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTGGGCTCTGCGTGTGTTTGC	0.537																																					p.R80S		.											.	.	0			c.C238A						.						98.0	100.0	100.0					15																	86697774		2031	4191	6222	SO:0001583	missense	123624	exon3			GCTCTGCGTGTGT	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.238C>A	15.37:g.86697774C>A	ENSP00000413001:p.Arg80Ser	87	0		94	15	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075077	0.76415	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.44881	0.91	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.46889	0.1416	M	0.78637	2.42	0.80722	D	1	P	0.43024	0.798	B	0.39503	0.301	T	0.53968	-0.8363	9	0.52906	T	0.07	-10.842	15.032	0.71713	0.0:1.0:0.0:0.0	.	80	Q96MI9	CBPC4_HUMAN	S	109;80	ENSP00000397173:R80S	ENSP00000397173:R80S	R	+	1	0	AGBL1	84498778	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.925000	0.40074	2.683000	0.91414	0.650000	0.86243	CGT	.		0.537	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
AGBL1	123624	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	86790916	86790916	+	Nonsense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:86790916A>T	ENST00000441037.2	+	6	498	c.403A>T	c.(403-405)Aga>Tga	p.R135*	AGBL1_ENST00000421325.2_Nonsense_Mutation_p.R135*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	135					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAACGGCCGCAGAGCAGTGAA	0.577																																					p.R135X		.											.	.	0			c.A403T						.						22.0	24.0	23.0					15																	86790916		2111	4236	6347	SO:0001587	stop_gained	123624	exon6			GGCCGCAGAGCAG	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.403A>T	15.37:g.86790916A>T	ENSP00000413001:p.Arg135*	183	1		176	48	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Nonsense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	37	6.634788	0.97722	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	.	.	.	5.16	-0.558	0.11796	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3071	14.1519	0.65392	0.3003:0.6997:0.0:0.0	.	.	.	.	X	164;135	.	ENSP00000397173:R135X	R	+	1	2	AGBL1	84591920	0.767000	0.28508	0.998000	0.56505	0.926000	0.56050	1.290000	0.33319	-0.040000	0.13580	0.459000	0.35465	AGA	.		0.577	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
AGBL1	123624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	86800211	86800211	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:86800211G>T	ENST00000441037.2	+	7	820	c.725G>T	c.(724-726)gGg>gTg	p.G242V	AGBL1_ENST00000421325.2_Missense_Mutation_p.G242V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	242					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CCGGTCCCCGGGTGCATCACC	0.502																																					p.G242V		.											.	.	0			c.G725T						.						69.0	70.0	69.0					15																	86800211		2032	4192	6224	SO:0001583	missense	123624	exon7			TCCCCGGGTGCAT	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.725G>T	15.37:g.86800211G>T	ENSP00000413001:p.Gly242Val	102	0		117	29	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	0.077	-1.190798	0.01607	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.36340	1.26	5.93	3.03	0.35002	Armadillo-type fold (1);	0.176297	0.35235	N	0.003352	T	0.24353	0.0590	L	0.43701	1.375	0.80722	D	1	P	0.43287	0.802	B	0.38616	0.277	T	0.05131	-1.0904	10	0.14656	T	0.56	-11.9721	7.0516	0.25075	0.1499:0.1417:0.7084:0.0	.	242	Q96MI9	CBPC4_HUMAN	V	271;242	ENSP00000397173:G242V	ENSP00000397173:G242V	G	+	2	0	AGBL1	84601215	0.942000	0.31987	0.039000	0.18376	0.047000	0.14425	1.547000	0.36190	0.396000	0.25283	0.655000	0.94253	GGG	.		0.502	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
NTRK3	4916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	88423642	88423642	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:88423642C>A	ENST00000360948.2	-	18	2354	c.2193G>T	c.(2191-2193)atG>atT	p.M731I	NTRK3_ENST00000394480.2_Missense_Mutation_p.M717I|NTRK3_ENST00000355254.2_Missense_Mutation_p.M717I|NTRK3_ENST00000557856.1_Missense_Mutation_p.M709I|NTRK3_ENST00000357724.2_Missense_Mutation_p.M723I	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	731	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAATGGGGAGCATGGTGTGTC	0.502			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											p.M731I		.		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	.	NTRK3-3538	0			c.G2193T						.						91.0	74.0	80.0					15																	88423642		2201	4299	6500	SO:0001583	missense	4916	exon19			GGGGAGCATGGTG	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2193G>T	15.37:g.88423642C>A	ENSP00000354207:p.Met731Ile	101	0		90	49	NM_001012338	0	0	0	0	0	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837757	0.91117	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	L	0.35542	1.07	0.80722	D	1	D;P;D	0.65815	0.995;0.752;0.985	D;P;D	0.70227	0.968;0.611;0.949	D	0.92397	0.5926	10	0.72032	D	0.01	.	17.9204	0.88964	0.0:1.0:0.0:0.0	.	709;717;731	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	I	717;731;723;717	ENSP00000377990:M717I;ENSP00000354207:M731I;ENSP00000350356:M723I;ENSP00000347397:M717I	ENSP00000347397:M717I	M	-	3	0	NTRK3	86224646	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.514000	0.81750	2.562000	0.86427	0.655000	0.94253	ATG	.		0.502	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
NTRK3	4916	broad.mit.edu	37	15	88678626	88678626	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:88678626G>T	ENST00000360948.2	-	9	1071	c.910C>A	c.(910-912)Ccc>Acc	p.P304T	NTRK3_ENST00000558676.1_Missense_Mutation_p.P304T|NTRK3_ENST00000394480.2_Missense_Mutation_p.P304T|NTRK3_ENST00000542733.2_Missense_Mutation_p.P206T|NTRK3_ENST00000355254.2_Missense_Mutation_p.P304T|NTRK3_ENST00000540489.2_Missense_Mutation_p.P304T|NTRK3_ENST00000557856.1_Missense_Mutation_p.P304T|NTRK3_ENST00000357724.2_Missense_Mutation_p.P304T|NTRK3_ENST00000317501.3_Missense_Mutation_p.P304T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	304					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACACGTGGGGGATCTGTCAAG	0.592			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											p.P304T		.		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	.	NTRK3-3538	0			c.C910A						.						24.0	26.0	25.0					15																	88678626		2201	4299	6500	SO:0001583	missense	4916	exon10			GTGGGGGATCTGT	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.910C>A	15.37:g.88678626G>T	ENSP00000354207:p.Pro304Thr	47	1		45	8	NM_001243101	0	0	0	0	0	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460568	0.63513	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.28	5.28	0.74379	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.994;0.996;0.988;0.994;0.999;0.988	D	0.89798	0.3973	10	0.87932	D	0	.	17.9266	0.88985	0.0:0.0:1.0:0.0	.	206;304;304;304;304;304	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	T	304;304;304;304;206;304;304	ENSP00000377990:P304T;ENSP00000354207:P304T;ENSP00000350356:P304T;ENSP00000347397:P304T;ENSP00000437773:P206T;ENSP00000444673:P304T;ENSP00000318328:P304T	ENSP00000318328:P304T	P	-	1	0	NTRK3	86479630	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	5.844000	0.69430	2.454000	0.82982	0.563000	0.77884	CCC	.		0.592	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
ACAN	176	bcgsc.ca	37	15	89386842	89386842	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:89386842C>A	ENST00000561243.1	+	5	1014	c.1014C>A	c.(1012-1014)ccC>ccA	p.P338P	ACAN_ENST00000439576.2_Silent_p.P338P|ACAN_ENST00000558207.1_Silent_p.P338P|ACAN_ENST00000352105.7_Silent_p.P338P|ACAN_ENST00000559004.1_Silent_p.P338P			P16112	PGCA_HUMAN	aggrecan	338	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGGGCTACCCCGACCCCTCAT	0.642																																					p.P338P		.											.	ACAN-25	0			c.C1014A						.						50.0	54.0	53.0					15																	89386842		2044	4177	6221	SO:0001819	synonymous_variant	176	exon6			CTACCCCGACCCC	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1014C>A	15.37:g.89386842C>A		102	3		133	57	NM_001135	0	0	0	0	0	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																			.		0.642	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
NR2F2	7026	bcgsc.ca;mdanderson.org	37	15	96876498	96876498	+	Intron	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:96876498G>T	ENST00000394166.3	+	1	1831				MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000453270.2_5'UTR|NR2F2_ENST00000394171.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2						anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CGCTCGGCGCGGGGCGCGGGC	0.667																																					.		.											.	.	0			.						.						17.0	17.0	17.0					15																	96876498		686	1589	2275	SO:0001627	intron_variant	100302258	.			CGGCGCGGGGCGC	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.442+722G>T	15.37:g.96876498G>T		19	0		83	21	.	0	0	0	0	0	B4DQJ2|B6ZGU1|Q03754|Q3KQR7	RNA	SNP	ENST00000394166.3	37	CCDS10375.1																																																																																			.		0.667	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1		
CERS3	204219	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	100996194	100996194	+	Nonsense_Mutation	SNP	G	G	T	rs139946861	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:100996194G>T	ENST00000394113.1	-	13	1593	c.903C>A	c.(901-903)taC>taA	p.Y301*	CERS3_ENST00000538112.2_Nonsense_Mutation_p.Y301*|CERS3_ENST00000284382.4_Nonsense_Mutation_p.Y301*|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	301	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGAGGAAGATGTATGAAAAGA	0.393																																					p.Y301X		.											.	.	0			c.C903A						.						122.0	112.0	116.0					15																	100996194		2203	4300	6503	SO:0001587	stop_gained	204219	exon12			GAAGATGTATGAA		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.903C>A	15.37:g.100996194G>T	ENSP00000377672:p.Tyr301*	64	0		62	12	NM_178842	0	0	0	0	0	Q8NE64|Q8NEN6	Nonsense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	G	40	8.354235	0.98774	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	.	.	.	5.66	3.8	0.43715	.	0.061535	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6274	8.5714	0.33572	0.1752:0.0:0.8248:0.0	.	.	.	.	X	301;312;301	.	ENSP00000284382:Y301X	Y	-	3	2	CERS3	98813717	1.000000	0.71417	0.547000	0.28179	0.920000	0.55202	1.542000	0.36137	0.764000	0.33197	0.655000	0.94253	TAC	G|0.997;A|0.003		0.393	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
LRRK1	79705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	101565124	101565124	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:101565124G>A	ENST00000388948.3	+	16	2543	c.2184G>A	c.(2182-2184)ctG>ctA	p.L728L	LRRK1_ENST00000284395.5_Silent_p.L725L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCTGGCGCTGGGGGAGGAGG	0.627																																					p.L728L		.											.	LRRK1-602	0			c.G2184A						.						119.0	134.0	129.0					15																	101565124		2054	4187	6241	SO:0001819	synonymous_variant	79705	exon16			GGCGCTGGGGGAG	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2184G>A	15.37:g.101565124G>A		107	0		101	46	NM_024652	0	0	0	0	0		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																			.		0.627	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
PCSK6	5046	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	101922386	101922386	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:101922386C>G	ENST00000348070.1	-	12	1439	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Silent_p.V480V|PCSK6_ENST00000358417.3_Silent_p.V480V|PCSK6_ENST00000331826.7_Silent_p.V315V|PCSK6_ENST00000344273.2_Silent_p.V480V	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	481	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTCTGCGTCCACCAAACCAA	0.562																																					.		.											.	PCSK6-46	0			.						.						66.0	69.0	68.0					15																	101922386		2083	4232	6315	SO:0001819	synonymous_variant	5046	.			TGCGTCCACCAAA		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1440G>C	15.37:g.101922386C>G		106	0		90	29	.	0	0	0	0	0	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37																																																																																				.		0.562	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
ARHGDIG	398	broad.mit.edu	37	16	332758	332758	+	Missense_Mutation	SNP	A	A	G	rs143125556	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:332758A>G	ENST00000219409.3	+	6	697	c.622A>G	c.(622-624)Acg>Gcg	p.T208A	PDIA2_ENST00000404312.1_5'Flank|PDIA2_ENST00000219406.6_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	208					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGATGACAGGACGCACCACCT	0.627											OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.T208A		.											.	ARHGDIG-90	0			c.A622G						.	A	ALA/THR	2,4394	4.2+/-10.8	0,2,2196	35.0	33.0	33.0		622	1.4	0.1	16	dbSNP_134	33	14,8582	9.1+/-34.3	0,14,4284	yes	missense	ARHGDIG	NM_001176.3	58	0,16,6480	GG,GA,AA		0.1629,0.0455,0.1232	benign	208/226	332758	16,12976	2198	4298	6496	SO:0001583	missense	398	exon6			GACAGGACGCACC	U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"""RhoGDI gamma"""	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.622A>G	16.37:g.332758A>G	ENSP00000219409:p.Thr208Ala	70	0	587	87	3	NM_001176	0	0	0	0	0	Q4TT69|Q96S29	Missense_Mutation	SNP	ENST00000219409.3	37	CCDS10404.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.716344	0.00706	4.55E-4	0.001629	ENSG00000242173	ENST00000219409;ENST00000414650	.	.	.	3.94	1.39	0.22231	Immunoglobulin E-set (1);	0.870423	0.09585	N	0.782255	T	0.40498	0.1119	M	0.62016	1.91	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33266	-0.9875	8	.	.	.	.	4.3407	0.11108	0.6599:0.2059:0.1342:0.0	.	208	Q99819	GDIR3_HUMAN	A	208;100	.	.	T	+	1	0	ARHGDIG	272759	0.186000	0.23225	0.066000	0.19879	0.156000	0.22039	0.845000	0.27668	-0.032000	0.13758	0.460000	0.39030	ACG	A|0.999;G|0.001		0.627	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1		
PDIA2	64714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	335179	335179	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:335179G>C	ENST00000219406.6	+	5	792	c.774G>C	c.(772-774)ctG>ctC	p.L258L	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Silent_p.L255L	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	258					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCATGCGCCTGGTCACGGAGT	0.657																																					p.L258L		.											.	PDIA2-91	0			c.G774C						.						30.0	34.0	33.0					16																	335179		2106	4214	6320	SO:0001819	synonymous_variant	64714	exon5			GCGCCTGGTCACG	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.774G>C	16.37:g.335179G>C		99	0		129	23	NM_006849	0	0	0	0	0	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	37	CCDS42089.1																																																																																			.		0.657	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849	
PDIA2	64714	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	335541	335541	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:335541T>A	ENST00000219406.6	+	7	975	c.957T>A	c.(955-957)aaT>aaA	p.N319K	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.N316K	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	319					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGGCCGACAATGAGCACGTGC	0.632																																					p.N319K		.											.	PDIA2-91	0			c.T957A						.						61.0	78.0	72.0					16																	335541		2177	4262	6439	SO:0001583	missense	64714	exon7			CGACAATGAGCAC	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.957T>A	16.37:g.335541T>A	ENSP00000219406:p.Asn319Lys	164	0		172	33	NM_006849	0	0	0	0	0	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	t	7.542	0.660953	0.14645	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.32272	1.46;1.46	4.13	-3.96	0.04106	Thioredoxin-like fold (1);	0.547200	0.17722	N	0.164202	T	0.45458	0.1343	M	0.75884	2.315	0.09310	N	1	D	0.63046	0.992	D	0.70487	0.969	T	0.34204	-0.9838	10	0.56958	D	0.05	.	7.9619	0.30076	0.0:0.1889:0.1081:0.703	.	319	Q13087	PDIA2_HUMAN	K	319;288;316	ENSP00000219406:N319K;ENSP00000384410:N316K	ENSP00000219406:N319K	N	+	3	2	PDIA2	275542	0.000000	0.05858	0.012000	0.15200	0.168000	0.22595	-1.075000	0.03423	-0.797000	0.04450	0.398000	0.26397	AAT	.		0.632	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849	
CAPN15	6650	broad.mit.edu	37	16	602138	602138	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:602138G>T	ENST00000219611.2	+	10	2796	c.2433G>T	c.(2431-2433)gcG>gcT	p.A811A	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	811					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CGGCCAGCGCGCCCGTGGGGG	0.701																																					p.A811A		.											.	SOLH-523	0			c.G2433T						.						10.0	11.0	10.0					16																	602138		1992	3913	5905	SO:0001819	synonymous_variant	6650	exon10			CAGCGCGCCCGTG	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2433G>T	16.37:g.602138G>T		47	1		245	61	NM_005632	0	0	0	0	0	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	CCDS10410.1																																																																																			.		0.701	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632	
C16orf13	84326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	684529	684529	+	3'UTR	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:684529G>C	ENST00000301686.8	-	0	694				C16orf13_ENST00000397666.2_Silent_p.P205P|C16orf13_ENST00000397664.4_3'UTR|C16orf13_ENST00000338401.4_3'UTR|C16orf13_ENST00000397665.2_Silent_p.P185P	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13											large_intestine(1)	1		Hepatocellular(780;0.00335)				GTCCGGCCTAGGGAGGCAGGG	0.622																																					p.P205P		.											.	C16orf13-22	0			c.C615G						.						88.0	106.0	100.0					16																	684529		2199	4300	6499	SO:0001624	3_prime_UTR_variant	84326	exon5			GGCCTAGGGAGGC		CCDS32352.1, CCDS42090.1, CCDS42091.1, CCDS45367.1, CCDS45368.1, CCDS73798.1	16p13.3	2012-10-09			ENSG00000130731	ENSG00000130731			14141	protein-coding gene	gene with protein product							Standard	NM_001040160		Approved	MGC13114	uc002chw.1	Q96S19	OTTHUMG00000047855	ENST00000301686.8:c.*68C>G	16.37:g.684529G>C		136	0		127	35	NM_001040160	0	0	0	0	0	A8MTR1|A8MWJ8|A8MZA1|B4DG95|B4DIJ3|D6REA6|F6TF62|F6VM53|Q96IW1|Q96MD6	Silent	SNP	ENST00000301686.8	37	CCDS45368.1																																																																																			.		0.622	C16orf13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109081.2	NM_001040160	
TELO2	9894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	1551665	1551665	+	Splice_Site	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:1551665A>G	ENST00000262319.6	+	11	1642	c.1363A>G	c.(1363-1365)Acg>Gcg	p.T455A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	455					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TCCTTAAAGCACGTCCCTCGT	0.612																																					p.T455A		.											.	TELO2-90	0			c.A1363G						.						55.0	68.0	64.0					16																	1551665		2195	4299	6494	SO:0001630	splice_region_variant	9894	exon11			TAAAGCACGTCCC	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1362-1A>G	16.37:g.1551665A>G		48	0		68	29	NM_016111	0	0	0	0	0	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	A	1.872	-0.460060	0.04508	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	D	0.82984	-1.67	5.18	0.83	0.18854	.	1.466390	0.03607	N	0.234254	T	0.63189	0.2490	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.55023	-0.8205	10	0.07030	T	0.85	-10.3516	4.3612	0.11203	0.1845:0.5485:0.0:0.267	.	455	Q9Y4R8	TELO2_HUMAN	A	69;455	ENSP00000262319:T455A	ENSP00000262319:T455A	T	+	1	0	TELO2	1491666	0.000000	0.05858	0.016000	0.15963	0.003000	0.03518	-1.189000	0.03061	0.244000	0.21351	-0.331000	0.08364	ACG	.		0.612	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111	Missense_Mutation
CRAMP1L	57585	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	16	1706050	1706050	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:1706050G>T	ENST00000397412.3	+	10	1391	c.1292G>T	c.(1291-1293)cGg>cTg	p.R431L	LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.R428L|CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.R431L			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	431						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GAGGGCGGCCGGTGCAAGCAG	0.682																																					p.R431L		.											.	.	0			c.G1292T						.						14.0	17.0	16.0					16																	1706050		2023	4164	6187	SO:0001583	missense	57585	exon9			GCGGCCGGTGCAA	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1292G>T	16.37:g.1706050G>T	ENSP00000380559:p.Arg431Leu	54	0		146	66	NM_020825	0	0	0	0	0	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247978	0.39697	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	4.98	3.96	0.45880	.	0.065202	0.64402	D	0.000018	T	0.32496	0.0831	N	0.24115	0.695	0.80722	D	1	P	0.51537	0.946	B	0.44108	0.441	T	0.05084	-1.0907	9	0.48119	T	0.1	-34.8293	7.087	0.25264	0.2286:0.0:0.7714:0.0	.	431	Q96RY5	CRML_HUMAN	L	431;431;428	.	ENSP00000293925:R431L	R	+	2	0	CRAMP1L	1646051	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	3.109000	0.50345	2.576000	0.86940	0.655000	0.94253	CGG	.		0.682	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4		
ZNF598	90850	hgsc.bcm.edu	37	16	2049527	2049527	+	Missense_Mutation	SNP	G	G	A	rs370015106	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2049527G>A	ENST00000563630.1	-	9	2100	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	ZNF598_ENST00000562103.1_Missense_Mutation_p.P620S|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Missense_Mutation_p.P675S			Q86UK7	ZN598_HUMAN	zinc finger protein 598	675	Pro-rich.						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						GGTGGGCAGGGGCCGCCGAGC	0.756													G|||	14	0.00279553	0.0008	0.0043	5008	,	,		12767	0.0		0.0099	False		,,,				2504	0.0				p.P675S		.											.	ZNF598-432	0			c.C2023T						.	G	SER/PRO	3,3225		0,3,1611	7.0	8.0	8.0		2025	2.6	0.3	16		8	53,7167		0,53,3557	no	missense	ZNF598	NM_178167.2	74	0,56,5168	AA,AG,GG		0.7341,0.0929,0.536	probably-damaging	675/905	2049527	56,10392	1614	3610	5224	SO:0001583	missense	90850	exon11			GGCAGGGGCCGCC	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		ENST00000563630.1:c.1858C>T	16.37:g.2049527G>A	ENSP00000455882:p.Pro620Ser	0	0		26	21	NM_178167	0	0	0	0	0	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	2.287	-0.363284	0.05103	9.29E-4	0.007341	ENSG00000167962	ENST00000431526	T	0.15834	2.39	4.7	2.63	0.31362	.	0.397754	0.28665	N	0.014551	T	0.06234	0.0161	L	0.41079	1.255	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.12156	0.007;0.007	T	0.31475	-0.9942	10	0.07644	T	0.81	-17.0899	1.2597	0.01999	0.2064:0.1832:0.4441:0.1662	.	675;667	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	S	675	ENSP00000411409:P675S	ENSP00000411409:P675S	P	-	1	0	ZNF598	1989528	0.915000	0.31059	0.316000	0.25252	0.245000	0.25701	0.819000	0.27308	1.204000	0.43247	0.650000	0.86243	CCC	.		0.756	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167	
SLC9A3R2	9351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2079600	2079600	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2079600G>T	ENST00000424542.2	+	2	369	c.231G>T	c.(229-231)aaG>aaT	p.K77N	SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.K77N|SLC9A3R2_ENST00000563587.1_5'UTR	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	77	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						AAAGGATCAAGGCTGTGGAGG	0.667																																					p.K77N	Ovarian(69;105 1552 17724 23473)	.											.	SLC9A3R2-23	0			c.G231T						.						29.0	39.0	36.0					16																	2079600		2103	4209	6312	SO:0001583	missense	9351	exon2			GATCAAGGCTGTG	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.231G>T	16.37:g.2079600G>T	ENSP00000408005:p.Lys77Asn	124	0		151	25	NM_004785	0	0	0	0	0	D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974274	0.53720	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.34472	1.36;1.36	4.61	3.64	0.41730	PDZ/DHR/GLGF (4);	0.400718	0.26923	N	0.021815	T	0.38878	0.1057	M	0.68593	2.085	0.80722	D	1	B;P	0.40619	0.425;0.724	B;B	0.42882	0.367;0.401	T	0.39187	-0.9626	10	0.66056	D	0.02	-14.5243	9.2011	0.37258	0.1756:0.0:0.8244:0.0	.	77;77	D3DU85;Q15599	.;NHRF2_HUMAN	N	77	ENSP00000408005:K77N;ENSP00000402857:K77N	ENSP00000408005:K77N	K	+	3	2	SLC9A3R2	2019601	0.993000	0.37304	1.000000	0.80357	0.955000	0.61496	0.183000	0.16919	2.128000	0.65567	0.555000	0.69702	AAG	.		0.667	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1		
E4F1	1877	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2284352	2284352	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2284352A>G	ENST00000301727.4	+	10	1604	c.1556A>G	c.(1555-1557)tAc>tGc	p.Y519C	RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000564065.1_5'Flank|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|E4F1_ENST00000565090.1_Intron|DNASE1L2_ENST00000320700.5_5'Flank|E4F1_ENST00000564139.1_Missense_Mutation_p.Y519C	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	519	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GAGCGGCCCTACCCTTGTCCC	0.672																																					p.Y519C		.											.	E4F1-187	0			c.A1556G						.						57.0	58.0	58.0					16																	2284352		2197	4300	6497	SO:0001583	missense	1877	exon10			GGCCCTACCCTTG	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1556A>G	16.37:g.2284352A>G	ENSP00000301727:p.Tyr519Cys	262	0		355	156	NM_004424	0	0	0	0	0	A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970191	0.34754	.	.	ENSG00000167967	ENST00000301727	T	0.25414	1.8	5.11	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.113928	0.64402	D	0.000008	T	0.48314	0.1493	M	0.87682	2.9	0.51767	D	0.999934	D	0.60575	0.988	P	0.59171	0.853	T	0.51957	-0.8639	10	0.72032	D	0.01	-22.4615	9.1685	0.37065	0.8024:0.0:0.0:0.1976	.	519	Q66K89	E4F1_HUMAN	C	519	ENSP00000301727:Y519C	ENSP00000301727:Y519C	Y	+	2	0	E4F1	2224353	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	4.896000	0.63222	0.784000	0.33661	0.448000	0.29417	TAC	.		0.672	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424	
SRRM2	23524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2816143	2816143	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2816143A>T	ENST00000301740.8	+	11	6163	c.5614A>T	c.(5614-5616)Act>Tct	p.T1872S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1872	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCTCCAGCCACTCACCGGCG	0.612																																					p.T1872S		.											.	SRRM2-93	0			c.A5614T						.						80.0	77.0	78.0					16																	2816143		2198	4300	6498	SO:0001583	missense	23524	exon11			CCAGCCACTCACC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5614A>T	16.37:g.2816143A>T	ENSP00000301740:p.Thr1872Ser	155	0		161	73	NM_016333	0	0	0	0	0	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	2.259	-0.369731	0.05069	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.23754	1.89	5.34	3.1	0.35709	.	0.192706	0.36932	N	0.002330	T	0.12433	0.0302	N	0.08118	0	0.25514	N	0.987433	B	0.16603	0.018	B	0.13407	0.009	T	0.18903	-1.0322	10	0.54805	T	0.06	-5.3118	7.9357	0.29929	0.8292:0.0:0.1708:0.0	.	1872	Q9UQ35	SRRM2_HUMAN	S	1872;1872;1124	ENSP00000301740:T1872S	ENSP00000301740:T1872S	T	+	1	0	SRRM2	2756144	0.004000	0.15560	0.988000	0.46212	0.998000	0.95712	-0.029000	0.12329	0.351000	0.24027	0.528000	0.53228	ACT	.		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
SRRM2	23524	hgsc.bcm.edu	37	16	2817254	2817256	+	In_Frame_Del	DEL	TAG	TAG	-	rs139489601		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	TAG	TAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2817254_2817256delTAG	ENST00000301740.8	+	11	7274_7276	c.6725_6727delTAG	c.(6724-6729)ctagcc>ccc	p.2242_2243LA>P	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2242	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCATGAACCTAGCCAGCGCCAG	0.626																																					p.2242_2243del		.											.	SRRM2-93	0			c.6725_6727del						.																																			SO:0001651	inframe_deletion	23524	exon11			TGAACCTAGCCAG	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6725_6727delTAG	16.37:g.2817254_2817256delTAG	ENSP00000301740:p.Leu2242_Ala2243delinsPro	115	0		106	0	NM_016333	0	0	0	0	0	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	In_Frame_Del	DEL	ENST00000301740.8	37	CCDS32373.1																																																																																			.		0.626	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
SRRM2	23524	bcgsc.ca	37	16	2817256	2817256	+	Missense_Mutation	SNP	G	G	A	rs139489601		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:2817256G>A	ENST00000301740.8	+	11	7276	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2243	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CATGAACCTAGCCAGCGCCAG	0.627																																					p.A2243T		.											.	SRRM2-93	0			c.G6727A						.						46.0	52.0	50.0					16																	2817256		2194	4295	6489	SO:0001583	missense	23524	exon11			AACCTAGCCAGCG	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6727G>A	16.37:g.2817256G>A	ENSP00000301740:p.Ala2243Thr	116	2		108	21	NM_016333	0	0	0	0	0	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740033	0.49045	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78003	-1.14	5.73	5.73	0.89815	.	0.089424	0.49305	D	0.000156	T	0.81744	0.4887	L	0.34521	1.04	0.33246	D	0.557905	D	0.63880	0.993	D	0.70935	0.971	D	0.84168	0.0432	10	0.39692	T	0.17	-14.1309	15.3821	0.74664	0.0:0.0:1.0:0.0	.	2243	Q9UQ35	SRRM2_HUMAN	T	2243;1495	ENSP00000301740:A2243T	ENSP00000301740:A2243T	A	+	1	0	SRRM2	2757257	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.707000	0.54838	2.714000	0.92807	0.591000	0.81541	GCC	G|1.000;C|0.000		0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
MEFV	4210	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	3296527	3296527	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:3296527G>A	ENST00000219596.1	-	6	1647	c.1608C>T	c.(1606-1608)caC>caT	p.H536H	MEFV_ENST00000541159.1_Silent_p.H325H|MEFV_ENST00000536379.1_Silent_p.H325H|MEFV_ENST00000339854.4_Silent_p.H356H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	536	Required for homotrimerization and induction of pyroptosomes.				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						CGCTGTACCTGTGCAAGATGT	0.562																																					p.H536H		.											.	MEFV-228	0			c.C1608T						.						84.0	80.0	81.0					16																	3296527		2197	4300	6497	SO:0001819	synonymous_variant	4210	exon6			GTACCTGTGCAAG	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.1608C>T	16.37:g.3296527G>A		61	1		70	21	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			.		0.562	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
C16orf90	646174	hgsc.bcm.edu;mdanderson.org	37	16	3544850	3544850	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:3544850G>T	ENST00000437192.3	-	2	76	c.74C>A	c.(73-75)cCc>cAc	p.P25H	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	15										large_intestine(1)	1						AGGGTGGCCGGGGCGTCCTTG	0.692																																					p.P25H		.											.	.	0			c.C74A						.						12.0	15.0	14.0					16																	3544850		1969	4101	6070	SO:0001583	missense	646174	exon2			TGGCCGGGGCGTC		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.74C>A	16.37:g.3544850G>T	ENSP00000401335:p.Pro25His	8	0		50	22	NM_001080524	0	0	0	0	0		Missense_Mutation	SNP	ENST00000437192.3	37	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187693	0.38609	.	.	ENSG00000215131	ENST00000437192	.	.	.	5.7	4.71	0.59529	.	0.590445	0.12535	U	0.460413	T	0.47820	0.1466	L	0.32530	0.975	0.09310	N	1	D	0.65815	0.995	P	0.58873	0.847	T	0.33033	-0.9884	9	0.72032	D	0.01	-3.2638	9.2956	0.37813	0.1064:0.0:0.8936:0.0	.	25	A8MZG2-2	.	H	25	.	ENSP00000401335:P25H	P	-	2	0	C16orf90	3484851	0.867000	0.29959	0.769000	0.31535	0.028000	0.11728	2.208000	0.42797	1.329000	0.45376	0.591000	0.81541	CCC	.		0.692	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524	
ADCY9	115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	4164589	4164589	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:4164589C>A	ENST00000294016.3	-	2	1393	c.855G>T	c.(853-855)ggG>ggT	p.G285G		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	285					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 glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGTGGAGCAGCCCCCTGCTCA	0.627																																					p.G285G		.											.	ADCY9-139	0			c.G855T						.						38.0	37.0	38.0					16																	4164589		2197	4300	6497	SO:0001819	synonymous_variant	115	exon2			GAGCAGCCCCCTG	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.855G>T	16.37:g.4164589C>A		78	0		87	36	NM_001116	0	0	0	0	0	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																			.		0.627	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
CIITA	4261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	11000690	11000690	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:11000690T>G	ENST00000324288.8	+	11	1474	c.1341T>G	c.(1339-1341)ttT>ttG	p.F447L	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	447	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGTACGACTTTGTCTTCTCTG	0.637			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																p.F447L		.		Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	.	CIITA-226	0			c.T1341G						.						56.0	56.0	56.0					16																	11000690		2194	4297	6491	SO:0001583	missense	4261	exon11			CGACTTTGTCTTC	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1341T>G	16.37:g.11000690T>G	ENSP00000316328:p.Phe447Leu	62	0		83	19	NM_000246	0	0	0	0	0	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211044	0.39102	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.76316	-1.01	5.03	-7.55	0.01327	NACHT nucleoside triphosphatase (1);	0.000000	0.53938	D	0.000045	T	0.80171	0.4574	L	0.55017	1.72	0.80722	D	1	D;P;D;D	0.76494	0.972;0.592;0.965;0.999	P;B;P;D	0.80764	0.887;0.32;0.885;0.994	D	0.83400	0.0022	10	0.72032	D	0.01	.	12.2866	0.54795	0.1072:0.6182:0.0:0.2746	.	447;447;399;447	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	L	447;399	ENSP00000316328:F447L	ENSP00000316328:F447L	F	+	3	2	CIITA	10908191	0.010000	0.17322	0.754000	0.31244	0.108000	0.19459	-1.498000	0.02287	-1.804000	0.01241	-0.411000	0.06167	TTT	.		0.637	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	
KIAA0430	9665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	15732947	15732947	+	Splice_Site	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:15732947C>G	ENST00000396368.3	-	2	350	c.144G>C	c.(142-144)acG>acC	p.T48T	KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Splice_Site_p.T48T|KIAA0430_ENST00000548025.1_Splice_Site_p.T48T|KIAA0430_ENST00000602337.1_Splice_Site_p.T48T|KIAA0430_ENST00000540441.2_Splice_Site_p.T48T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	48					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ATATAGTTACCGTTTGGGGAC	0.448																																					p.T48T		.											.	KIAA0430-90	0			c.G144C						.						90.0	85.0	87.0					16																	15732947		1945	4142	6087	SO:0001630	splice_region_variant	9665	exon2			AGTTACCGTTTGG	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.144+1G>C	16.37:g.15732947C>G		139	0		86	36	NM_014647	0	0	0	0	0	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	CCDS10562.2																																																																																			.		0.448	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647	Silent
XYLT1	64131	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	17228440	17228440	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:17228440G>C	ENST00000261381.6	-	9	2001	c.1917C>G	c.(1915-1917)gaC>gaG	p.D639E	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	639					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTGGATGCCGTCAGGCTCAT	0.602																																					p.D639E		.											.	XYLT1-94	0			c.C1917G						.						116.0	101.0	106.0					16																	17228440		2197	4300	6497	SO:0001583	missense	64131	exon9			GATGCCGTCAGGC	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1917C>G	16.37:g.17228440G>C	ENSP00000261381:p.Asp639Glu	78	1		96	18	NM_022166	0	0	0	0	0	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220255	0.39201	.	.	ENSG00000103489	ENST00000261381	T	0.64618	-0.11	5.18	-10.4	0.00318	.	0.105476	0.64402	D	0.000002	T	0.53899	0.1825	L	0.61036	1.89	0.44439	D	0.997368	B	0.29955	0.263	B	0.34931	0.192	T	0.62291	-0.6885	10	0.48119	T	0.1	-13.6338	15.8911	0.79299	0.341:0.0786:0.5804:0.0	.	639	Q86Y38	XYLT1_HUMAN	E	639	ENSP00000261381:D639E	ENSP00000261381:D639E	D	-	3	2	XYLT1	17135941	0.000000	0.05858	0.003000	0.11579	0.267000	0.26476	-1.966000	0.01509	-3.278000	0.00198	-2.025000	0.00428	GAC	.		0.602	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166	
C16orf62	57020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	19628040	19628040	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:19628040G>T	ENST00000251143.5	+	14	1146	c.1134G>T	c.(1132-1134)gtG>gtT	p.V378V	C16orf62_ENST00000448695.1_Silent_p.V228V|C16orf62_ENST00000543152.1_Silent_p.V127V|C16orf62_ENST00000438132.3_Silent_p.V467V|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000542263.1_Intron			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	378						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACCAGCTGGTGGTCCAAGGAG	0.512																																					p.V467V		.											.	C16orf62-69	0			c.G1401T						.						142.0	116.0	125.0					16																	19628040		2197	4300	6497	SO:0001819	synonymous_variant	57020	exon14			GCTGGTGGTCCAA		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1134G>T	16.37:g.19628040G>T		140	0		162	45	NM_020314	0	0	0	0	0	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37																																																																																				.		0.512	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	
GP2	2813	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	20327304	20327304	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:20327304A>C	ENST00000381362.4	-	10	1560	c.1484T>G	c.(1483-1485)cTa>cGa	p.L495R	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Missense_Mutation_p.L492R|GP2_ENST00000381360.5_Missense_Mutation_p.L348R|GP2_ENST00000341642.5_Missense_Mutation_p.L345R	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	495					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCCCAAATCTAGAACCCGGGC	0.493																																					p.L495R		.											.	GP2-94	0			c.T1484G						.						109.0	100.0	103.0					16																	20327304		2203	4300	6503	SO:0001583	missense	2813	exon10			AAATCTAGAACCC	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1484T>G	16.37:g.20327304A>C	ENSP00000370767:p.Leu495Arg	120	1		116	57	NM_001007240	0	0	0	0	0	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732102	0.48939	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.92446	-3.04;-3.04;-1.79;-1.8	5.37	3.1	0.35709	.	.	.	.	.	D	0.94248	0.8153	M	0.72118	2.19	0.28753	N	0.901346	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.995;0.999;0.996	D	0.87191	0.2234	9	0.87932	D	0	0.0234	4.5031	0.11874	0.7369:0.0:0.0921:0.171	.	345;473;492;495	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	R	492;495;348;345;473	ENSP00000304044:L492R;ENSP00000370767:L495R;ENSP00000370765:L348R;ENSP00000343861:L345R	ENSP00000304044:L492R	L	-	2	0	GP2	20234805	0.721000	0.28007	0.150000	0.22450	0.576000	0.36127	1.876000	0.39588	0.332000	0.23536	0.533000	0.62120	CTA	.		0.493	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	
GP2	2813	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	20331586	20331586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:20331586C>A	ENST00000381362.4	-	6	941	c.865G>T	c.(865-867)Gag>Tag	p.E289*	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000302555.5_Nonsense_Mutation_p.E286*|GP2_ENST00000381360.5_Nonsense_Mutation_p.E142*|GP2_ENST00000341642.5_Nonsense_Mutation_p.E139*	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	289	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCACTTACCTCCAGAATGTTC	0.542																																					p.E289X		.											.	GP2-94	0			c.G865T						.						96.0	83.0	87.0					16																	20331586		2203	4300	6503	SO:0001587	stop_gained	2813	exon6			TTACCTCCAGAAT	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.865G>T	16.37:g.20331586C>A	ENSP00000370767:p.Glu289*	110	0		93	27	NM_001007240	0	0	0	0	0	A6NFM9|A6NJA8|Q13338|Q9UIF1	Nonsense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519251	0.85495	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	.	.	.	4.64	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-18.091	7.7491	0.28886	0.0:0.8904:0.0:0.1096	.	.	.	.	X	286;289;142;139;267	.	ENSP00000304044:E286X	E	-	1	0	GP2	20239087	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.210000	0.32370	2.523000	0.85059	0.655000	0.94253	GAG	.		0.542	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	
GP2	2813	bcgsc.ca	37	16	20335325	20335325	+	Silent	SNP	G	G	A	rs12930599	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:20335325G>A	ENST00000381362.4	-	3	424	c.348C>T	c.(346-348)gaC>gaT	p.D116D	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Silent_p.D116D|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	116					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACATGGGAGCGTCTGTCTGGC	0.572													G|||	414	0.0826677	0.0068	0.1772	5008	,	,		18878	0.0089		0.2256	False		,,,				2504	0.047				p.D116D		.											.	GP2-94	0			c.C348T						.	G	,,,	205,4201	124.5+/-161.8	3,199,2001	98.0	77.0	84.0		348,,,348	-10.0	0.0	16	dbSNP_121	84	1890,6710	335.5+/-321.5	201,1488,2611	no	coding-synonymous,intron,intron,coding-synonymous	GP2	NM_001007240.1,NM_001007241.1,NM_001007242.1,NM_001502.2	,,,	204,1687,4612	AA,AG,GG		21.9767,4.6527,16.108	,,,	116/538,,,116/535	20335325	2095,10911	2203	4300	6503	SO:0001819	synonymous_variant	2813	exon3			GGGAGCGTCTGTC	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.348C>T	16.37:g.20335325G>A		215	1		192	7	NM_001502	0	0	0	0	0	A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	CCDS42128.1																																																																																			G|0.865;A|0.135		0.572	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	
ACSM2A	123876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	20476935	20476935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:20476935C>T	ENST00000573854.1	+	3	388	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.Q92*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.Q13*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.Q92*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.Q92*|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Nonsense_Mutation_p.Q92*	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	92					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAACAGCCAGCAGGCAGCCAA	0.607																																					p.Q92X		.											.	ACSM2A-91	0			c.C274T						.						119.0	107.0	111.0					16																	20476935		2203	4300	6503	SO:0001587	stop_gained	123876	exon4			AGCCAGCAGGCAG	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.274C>T	16.37:g.20476935C>T	ENSP00000459451:p.Gln92*	400	0		443	57	NM_001010845	0	0	0	0	0	B3KTT9|O75202	Nonsense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105404	0.56291	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	.	.	.	3.76	2.69	0.31865	.	0.171201	0.28001	N	0.016994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4044	8.844	0.35159	0.4338:0.5662:0.0:0.0	.	.	.	.	X	13;92;92;92	.	ENSP00000219054:Q92X	Q	+	1	0	ACSM2A	20384436	0.234000	0.23783	0.010000	0.14722	0.327000	0.28475	3.504000	0.53347	1.809000	0.52856	0.298000	0.19748	CAG	.		0.607	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	
HS3ST2	9956	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	16	22825984	22825984	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:22825984G>A	ENST00000261374.3	+	1	487	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	18					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|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 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CGGAGGGCGCGCAGGCTGCTC	0.706																																					p.R18H		.											.	HS3ST2-516	0			c.G53A						.						9.0	10.0	10.0					16																	22825984		2125	4197	6322	SO:0001583	missense	9956	exon1			GGGCGCGCAGGCT	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.53G>A	16.37:g.22825984G>A	ENSP00000261374:p.Arg18His	14	0		85	51	NM_006043	0	0	0	0	0	Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944801	0.73672	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.52983	0.64	4.04	3.07	0.35406	.	0.454124	0.21061	N	0.080840	T	0.33059	0.0850	L	0.43923	1.385	0.49130	D	0.999751	D	0.54397	0.966	B	0.34093	0.175	T	0.20405	-1.0276	10	0.59425	D	0.04	.	10.8434	0.46728	0.0962:0.0:0.9038:0.0	.	18	Q9Y278	HS3S2_HUMAN	H	18;26	ENSP00000261374:R18H	ENSP00000261374:R18H	R	+	2	0	HS3ST2	22733485	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.235000	0.43044	0.791000	0.33826	0.462000	0.41574	CGC	.		0.706	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043	
HS3ST2	9956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	22926624	22926624	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:22926624C>A	ENST00000261374.3	+	2	1279	c.845C>A	c.(844-846)gCc>gAc	p.A282D		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	282					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|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 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		ACTGACCCGGCCGGCGAGATG	0.547																																					p.A282D		.											.	HS3ST2-516	0			c.C845A						.						98.0	101.0	100.0					16																	22926624		2197	4300	6497	SO:0001583	missense	9956	exon2			ACCCGGCCGGCGA	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.845C>A	16.37:g.22926624C>A	ENSP00000261374:p.Ala282Asp	138	0		138	68	NM_006043	0	0	0	0	0	Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344686	0.82022	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	D	0.82893	-1.66	5.21	5.21	0.72293	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.80422	2.495	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.92451	0.5970	10	0.72032	D	0.01	.	17.7799	0.88520	0.0:1.0:0.0:0.0	.	282	Q9Y278	HS3S2_HUMAN	D	282;290	ENSP00000261374:A282D	ENSP00000261374:A282D	A	+	2	0	HS3ST2	22834125	1.000000	0.71417	0.094000	0.20943	0.683000	0.39861	7.818000	0.86416	2.433000	0.82419	0.561000	0.74099	GCC	.		0.547	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043	
ERN2	10595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	23716290	23716290	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:23716290G>C	ENST00000457008.2	-	8	806	c.768C>G	c.(766-768)ctC>ctG	p.L256L	ERN2_ENST00000256797.4_Silent_p.L304L					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCGGAGGGCGAGGAAATGCA	0.662																																					p.L304L		.											.	ERN2-322	0			c.C912G						.						58.0	58.0	58.0					16																	23716290		2197	4300	6497	SO:0001819	synonymous_variant	10595	exon8			GAGGGCGAGGAAA	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.768C>G	16.37:g.23716290G>C		73	0		212	91	NM_033266	0	0	0	0	0		Silent	SNP	ENST00000457008.2	37																																																																																				.		0.662	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		
CACNG3	10368	broad.mit.edu;bcgsc.ca	37	16	24373179	24373179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:24373179delG	ENST00000005284.3	+	4	2145	c.943delG	c.(943-945)gtcfs	p.V315fs		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	315					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V315I(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CACCACGCCCGTCTGAACTGA	0.552																																					p.V315fs		.											.	CACNG3-90	2	Substitution - Missense(2)	NS(1)|endometrium(1)	c.943delG						.						37.0	39.0	38.0					16																	24373179		2197	4300	6497	SO:0001589	frameshift_variant	10368	exon4			ACGCCCGTCTGAA	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.943delG	16.37:g.24373179delG	ENSP00000005284:p.Val315fs	32	0		28	9	NM_006539	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000005284.3	37	CCDS10620.1																																																																																			.		0.552	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
RBBP6	5930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	24582830	24582830	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:24582830G>T	ENST00000319715.4	+	18	4875	c.4443G>T	c.(4441-4443)gaG>gaT	p.E1481D	RBBP6_ENST00000381039.3_Missense_Mutation_p.E641D|RBBP6_ENST00000348022.2_Missense_Mutation_p.E1447D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1481	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACACCAGAGAGTATTCAAGTT	0.373																																					p.E1481D		.											.	RBBP6-230	0			c.G4443T						.						72.0	71.0	71.0					16																	24582830		2197	4300	6497	SO:0001583	missense	5930	exon18			CAGAGAGTATTCA		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4443G>T	16.37:g.24582830G>T	ENSP00000317872:p.Glu1481Asp	81	0		78	19	NM_006910	0	0	0	0	0	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	0.150	-1.092994	0.01858	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.15834	2.39;2.55;2.6	6.04	-4.4	0.03600	.	0.386292	0.25375	N	0.031127	T	0.03871	0.0109	N	0.03608	-0.345	0.21740	N	0.999566	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.28808	-1.0032	10	0.16420	T	0.52	-2.0105	0.5335	0.00633	0.2141:0.1951:0.2239:0.3669	.	641;1447;1481	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	D	641;1481;1447	ENSP00000370427:E641D;ENSP00000317872:E1481D;ENSP00000316291:E1447D	ENSP00000317872:E1481D	E	+	3	2	RBBP6	24490331	0.016000	0.18221	0.651000	0.29564	0.990000	0.78478	-1.109000	0.03309	-0.804000	0.04410	0.563000	0.77884	GAG	.		0.373	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
SLC5A11	115584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	24909414	24909414	+	Missense_Mutation	SNP	C	C	G	rs372688531		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:24909414C>G	ENST00000347898.3	+	10	1612	c.990C>G	c.(988-990)agC>agG	p.S330R	SLC5A11_ENST00000449109.2_Missense_Mutation_p.P198A|SLC5A11_ENST00000568579.1_Missense_Mutation_p.S260R|SLC5A11_ENST00000545376.1_Missense_Mutation_p.S260R|SLC5A11_ENST00000565769.1_Missense_Mutation_p.S266R|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P198A|SLC5A11_ENST00000539472.1_Missense_Mutation_p.S266R|SLC5A11_ENST00000567758.1_Missense_Mutation_p.S295R|SLC5A11_ENST00000424767.2_Missense_Mutation_p.S295R	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGATGGTCAGCCGCATCCTCT	0.507																																					p.S330R		.											.	SLC5A11-92	0			c.C990G						.						126.0	100.0	108.0					16																	24909414		2197	4300	6497	SO:0001583	missense	115584	exon10			GGTCAGCCGCATC	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.990C>G	16.37:g.24909414C>G	ENSP00000289932:p.Ser330Arg	51	0		68	16	NM_052944	0	0	0	0	0		Missense_Mutation	SNP	ENST00000347898.3	37	CCDS10625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.54|17.54	3.414421|3.414421	0.62511|0.62511	.|.	.|.	ENSG00000158865|ENSG00000158865	ENST00000449109|ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	D|D;D;D;D	0.93547|0.89123	-3.24|-2.47;-2.47;-2.47;-2.47	5.53|5.53	2.46|2.46	0.29980|0.29980	.|.	.|0.036079	.|0.85682	.|D	.|0.000000	D|D	0.95313|0.95313	0.8479|0.8479	H|H	0.96111|0.96111	3.77|3.77	0.58432|0.58432	D|D	0.999999|0.999999	B|D;D;P	0.28055|0.76494	0.199|0.999;0.999;0.931	B|D;D;P	0.27380|0.75020	0.079|0.985;0.954;0.715	D|D	0.93833|0.93833	0.7129|0.7129	9|10	0.22109|0.87932	T|D	0.4|0	.|.	8.7151|8.7151	0.34405|0.34405	0.0:0.7401:0.0:0.2599|0.0:0.7401:0.0:0.2599	.|.	198|260;295;330	Q05BF1|B7Z329;Q8WWX8-2;Q8WWX8	.|.;.;SC5AB_HUMAN	A|R	198|330;295;260;266	ENSP00000389606:P198A|ENSP00000289932:S330R;ENSP00000416782:S295R;ENSP00000441384:S260R;ENSP00000441018:S266R	ENSP00000389606:P198A|ENSP00000289932:S330R	P|S	+|+	1|3	0|2	SLC5A11|SLC5A11	24816915|24816915	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.698000|0.698000	0.40448|0.40448	2.124000|2.124000	0.42006|0.42006	0.275000|0.275000	0.22094|0.22094	0.655000|0.655000	0.94253|0.94253	CCG|AGC	.		0.507	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944	
C16orf82	162083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	27078584	27078584	+	lincRNA	SNP	G	G	T	rs376890534		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:27078584G>T	ENST00000505035.1	+	0	557				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		CCTGAGCAGCGGGTACGCAGG	0.642																																					p.G90W		.											.	.	0			c.G268T						.						20.0	28.0	25.0					16																	27078584		2192	4290	6482			162083	exon1			AGCAGCGGGTACG	BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27078584G>T		66	0		64	19	NM_001145545	0	0	0	0	0	B9EGC2|Q8NEF0	Missense_Mutation	SNP	ENST00000505035.1	37																																																																																				.		0.642	C16orf82-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366634.1	NM_001145545	
KIAA0556	23247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	27709688	27709688	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:27709688G>T	ENST00000261588.4	+	9	999	c.980G>T	c.(979-981)cGc>cTc	p.R327L	KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	327						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCTGCAACCCGCAAAACTCTT	0.582																																					p.R327L		.											.	KIAA0556-141	0			c.G980T						.						84.0	94.0	91.0					16																	27709688		2197	4300	6497	SO:0001583	missense	23247	exon9			CAACCCGCAAAAC	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.980G>T	16.37:g.27709688G>T	ENSP00000261588:p.Arg327Leu	59	0		79	16	NM_015202	0	0	0	0	0	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079113	0.76528	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.19669	2.13	5.56	4.61	0.57282	.	0.127681	0.48767	D	0.000166	T	0.44074	0.1276	M	0.76328	2.33	0.38760	D	0.9543	D;D	0.89917	0.991;1.0	P;D	0.73380	0.884;0.98	T	0.50725	-0.8794	10	0.72032	D	0.01	-3.5269	10.9813	0.47497	0.0868:0.0:0.9132:0.0	.	235;327	Q8N803;O60303	.;K0556_HUMAN	L	327;234	ENSP00000261588:R327L	ENSP00000261588:R327L	R	+	2	0	KIAA0556	27617189	0.987000	0.35691	0.944000	0.38274	0.766000	0.43426	3.616000	0.54174	1.489000	0.48450	-0.126000	0.14955	CGC	.		0.582	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
SH2B1	25970	broad.mit.edu	37	16	28878275	28878275	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:28878275G>T	ENST00000322610.8	+	4	1299	c.860G>T	c.(859-861)tGg>tTg	p.W287L	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.W287L|SH2B1_ENST00000359285.5_Missense_Mutation_p.W287L|SH2B1_ENST00000395532.4_Missense_Mutation_p.W287L|SH2B1_ENST00000563674.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	287	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|PH.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CAGCCTCAGTGGCAGAAGTGT	0.652																																					p.W287L		.											.	SH2B1-92	0			c.G860T						.						18.0	20.0	20.0					16																	28878275		2145	4246	6391	SO:0001583	missense	25970	exon2			CTCAGTGGCAGAA	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.860G>T	16.37:g.28878275G>T	ENSP00000321221:p.Trp287Leu	23	0		16	3	NM_001145796	0	0	0	0	0	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887754	0.72410	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	3.96	3.96	0.45880	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000005	D	0.89949	0.6863	M	0.63843	1.955	0.58432	D	0.999999	P;P;D	0.76494	0.765;0.765;0.999	P;P;D	0.85130	0.485;0.586;0.997	D	0.90556	0.4512	10	0.87932	D	0	-13.572	11.3796	0.49750	0.0:0.0:1.0:0.0	.	287;287;287	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	L	287	ENSP00000321221:W287L;ENSP00000352232:W287L;ENSP00000378903:W287L;ENSP00000337163:W287L	ENSP00000321221:W287L	W	+	2	0	SH2B1	28785776	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.756000	0.91651	2.060000	0.61445	0.462000	0.41574	TGG	.		0.652	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503	
NFATC2IP	84901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	28970367	28970367	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:28970367G>T	ENST00000320805.4	+	7	1122	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	MIR4517_ENST00000578855.1_RNA|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.Q57H|RP11-264B17.2_ENST00000569974.1_RNA|RP11-264B17.2_ENST00000568057.1_RNA|NFATC2IP_ENST00000564978.1_Missense_Mutation_p.Q70H	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	349	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AACAGCTCCAGCTCCGGGTGC	0.587																																					p.Q349H		.											.	NFATC2IP-91	0			c.G1047T						.						71.0	66.0	68.0					16																	28970367		2197	4300	6497	SO:0001583	missense	84901	exon7			GCTCCAGCTCCGG	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.1047G>T	16.37:g.28970367G>T	ENSP00000324792:p.Gln349His	239	0		254	92	NM_032815	0	0	0	0	0	B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672350	0.47781	.	.	ENSG00000176953	ENST00000320805	T	0.32753	1.44	5.1	0.668	0.17912	Ubiquitin supergroup (1);Small ubiquitin-related modifier, SUMO (1);Ubiquitin (1);	0.313585	0.22983	N	0.053283	T	0.32941	0.0846	L	0.43152	1.355	0.27109	N	0.962431	D;P	0.62365	0.991;0.514	P;B	0.59115	0.852;0.351	T	0.14699	-1.0463	10	0.66056	D	0.02	-11.9248	2.0724	0.03616	0.177:0.1541:0.5101:0.1589	.	349;68	Q8NCF5;Q8NCF5-2	NF2IP_HUMAN;.	H	349	ENSP00000324792:Q349H	ENSP00000324792:Q349H	Q	+	3	2	NFATC2IP	28877868	0.962000	0.33011	0.997000	0.53966	0.855000	0.48748	0.332000	0.19751	0.181000	0.19994	0.462000	0.41574	CAG	.		0.587	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815	
C16orf92	146378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	30035165	30035165	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:30035165C>A	ENST00000300575.2	+	2	269	c.248C>A	c.(247-249)gCc>gAc	p.A83D	DOC2A_ENST00000567824.1_5'Flank	NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	83						integral component of membrane (GO:0016021)				breast(3)|lung(3)	6						CTGGCTGTGGCCCAGTTTATT	0.582																																					p.A83D		.											.	C16orf92-68	0			c.C248A						.						38.0	40.0	39.0					16																	30035165		1949	4130	6079	SO:0001583	missense	146378	exon2			CTGTGGCCCAGTT	AK058133	CCDS42146.1	16p11.2	2012-05-30			ENSG00000167194	ENSG00000167194			26346	protein-coding gene	gene with protein product							Standard	NM_001109659		Approved	FLJ25404	uc002dvs.2	Q96LL3	OTTHUMG00000177107	ENST00000300575.2:c.248C>A	16.37:g.30035165C>A	ENSP00000300575:p.Ala83Asp	119	0		137	72	NM_001109660	0	0	0	0	0	Q494R8	Missense_Mutation	SNP	ENST00000300575.2	37	CCDS42146.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153140	0.78001	.	.	ENSG00000167194	ENST00000300575	T	0.30714	1.52	5.4	4.39	0.52855	.	0.150412	0.31370	N	0.007773	T	0.38825	0.1055	L	0.32530	0.975	0.32131	N	0.586759	D;D	0.63046	0.992;0.979	D;P	0.63381	0.914;0.816	T	0.43669	-0.9377	10	0.59425	D	0.04	-19.4427	10.5951	0.45331	0.2818:0.7182:0.0:0.0	.	83;61	Q96LL3;Q96LL3-2	CP092_HUMAN;.	D	83	ENSP00000300575:A83D	ENSP00000300575:A83D	A	+	2	0	C16orf92	29942666	0.996000	0.38824	0.990000	0.47175	0.970000	0.65996	2.386000	0.44380	2.527000	0.85204	0.655000	0.94253	GCC	.		0.582	C16orf92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435351.1	NM_001109659	
FBXL19	54620	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	30958250	30958250	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:30958250G>T	ENST00000380310.2	+	10	2045	c.1887G>T	c.(1885-1887)ctG>ctT	p.L629L	ORAI3_ENST00000318663.4_5'Flank|FBXL19_ENST00000471231.2_Silent_p.L317L|ORAI3_ENST00000562699.1_5'Flank|FBXL19_ENST00000562319.1_Silent_p.L609L|AC135048.13_ENST00000566056.1_RNA|FBXL19_ENST00000565690.1_Silent_p.L493L|FBXL19_ENST00000338343.4_Silent_p.L609L|ORAI3_ENST00000566237.1_5'Flank	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	629					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCGAGACCCTGGTGCACCTCA	0.682																																					p.L629L		.											.	FBXL19-661	0			c.G1887T						.						16.0	19.0	18.0					16																	30958250		2131	4233	6364	SO:0001819	synonymous_variant	54620	exon10			GACCCTGGTGCAC	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1887G>T	16.37:g.30958250G>T		104	1		155	39	NM_001099784	0	0	0	0	0	A8MT10|Q8N789|Q9NT14	Silent	SNP	ENST00000380310.2	37	CCDS45465.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569449	0.13560	.	.	ENSG00000099364	ENST00000427128	.	.	.	5.47	3.14	0.36123	.	.	.	.	.	T	0.56615	0.1997	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52734	-0.8536	4	.	.	.	-6.7392	7.8578	0.29493	0.0:0.433:0.3542:0.2128	.	.	.	.	C	521	.	.	G	+	1	0	FBXL19	30865751	0.991000	0.36638	1.000000	0.80357	0.958000	0.62258	0.288000	0.18939	1.289000	0.44618	0.555000	0.69702	GGT	.		0.682	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085	
TRIM72	493829	hgsc.bcm.edu	37	16	31235631	31235631	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:31235631A>T	ENST00000322122.3	+	7	1273	c.989A>T	c.(988-990)aAg>aTg	p.K330M	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						CAGTTCGACAAGGCGGTGGCG	0.721																																					p.K330M		.											.	TRIM72-44	0			c.A989T						.						12.0	13.0	13.0					16																	31235631		2189	4275	6464	SO:0001583	missense	493829	exon7			TCGACAAGGCGGT	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.989A>T	16.37:g.31235631A>T	ENSP00000312675:p.Lys330Met	0	0		60	12	NM_001008274	0	0	0	0	0		Missense_Mutation	SNP	ENST00000322122.3	37	CCDS32437.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.725905	0.69074	.	.	ENSG00000177238	ENST00000322122	T	0.10960	2.82	5.44	5.44	0.79542	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000002	T	0.30978	0.0782	M	0.66939	2.045	0.45762	D	0.998651	D	0.76494	0.999	D	0.87578	0.998	T	0.01305	-1.1390	10	0.44086	T	0.13	.	14.4639	0.67470	1.0:0.0:0.0:0.0	.	330	Q6ZMU5	TRI72_HUMAN	M	330	ENSP00000312675:K330M	ENSP00000312675:K330M	K	+	2	0	TRIM72	31143132	0.986000	0.35501	1.000000	0.80357	0.909000	0.53808	0.889000	0.28282	2.077000	0.62373	0.402000	0.26972	AAG	.		0.721	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274	
ITGAX	3687	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	31374306	31374306	+	Silent	SNP	C	C	T	rs147598964	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:31374306C>T	ENST00000268296.4	+	13	1531	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	ITGAX_ENST00000562522.1_Silent_p.D470D	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	470					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.D470D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TAGACAGCGACGGCAGCACCG	0.672													c|||	4	0.000798722	0.0	0.0	5008	,	,		11633	0.0		0.002	False		,,,				2504	0.002				p.D470D		.											.	ITGAX-229	1	Substitution - coding silent(1)	endometrium(1)	c.C1410T						.	T		2,4392	4.2+/-10.8	0,2,2195	62.0	66.0	65.0		1410	-2.0	0.8	16	dbSNP_134	65	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous	ITGAX	NM_000887.3		0,21,6476	TT,TC,CC		0.2209,0.0455,0.1616		470/1164	31374306	21,12973	2197	4300	6497	SO:0001819	synonymous_variant	3687	exon13			CAGCGACGGCAGC	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1410C>T	16.37:g.31374306C>T		170	0		201	37	NM_000887	0	0	0	0	0	Q8IVA6	Silent	SNP	ENST00000268296.4	37	CCDS10711.1																																																																																			C|0.998;T|0.002		0.672	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
ARMC5	79798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	31477303	31477303	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:31477303G>T	ENST00000563544.1	+	6	2543	c.1997G>T	c.(1996-1998)cGg>cTg	p.R666L	ARMC5_ENST00000538189.1_Splice_Site_p.R698L|ARMC5_ENST00000412665.2_Splice_Site_p.R310L|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Splice_Site_p.R666L|ARMC5_ENST00000408912.3_Splice_Site_p.R761L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	666										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTCATCTGCCGGTGAGTGGGA	0.652																																					p.R666L		.											.	ARMC5-24	0			c.G1997T						.						53.0	65.0	61.0					16																	31477303		2177	4279	6456	SO:0001630	splice_region_variant	79798	exon5			TCTGCCGGTGAGT	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1997+1G>T	16.37:g.31477303G>T		73	0		61	28	NM_001105247	0	0	0	0	0	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578292	0.86645	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.8	4.84	0.62591	Armadillo-like helical (1);Armadillo-type fold (1);	0.072786	0.64402	D	0.000012	T	0.26484	0.0647	L	0.55481	1.735	0.50632	D	0.999885	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.75484	0.986;0.986;0.986;0.976	T	0.00167	-1.1964	10	0.87932	D	0	-41.4749	11.8922	0.52635	0.083:0.0:0.917:0.0	.	698;698;761;666	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	L	761;698;666;310	ENSP00000386125:R761L;ENSP00000443995:R698L;ENSP00000268314:R666L;ENSP00000400183:R310L	ENSP00000268314:R666L	R	+	2	0	ARMC5	31384804	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.678000	0.54627	2.735000	0.93741	0.655000	0.94253	CGG	.		0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742	Missense_Mutation
SHCBP1	79801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	46637518	46637518	+	Silent	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:46637518A>C	ENST00000303383.3	-	8	1412	c.1146T>G	c.(1144-1146)gtT>gtG	p.V382V		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	382					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GACAAACAATAACAGTGTCAC	0.403																																					p.V382V		.											.	SHCBP1-154	0			c.T1146G						.						132.0	99.0	111.0					16																	46637518		2203	4300	6503	SO:0001819	synonymous_variant	79801	exon8			AACAATAACAGTG	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1146T>G	16.37:g.46637518A>C		282	0		334	148	NM_024745	0	0	0	0	0	Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	CCDS10720.1																																																																																			.		0.403	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745	
ABCC12	94160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	48134826	48134826	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:48134826C>A	ENST00000311303.3	-	21	3340	c.2995G>T	c.(2995-2997)Ggc>Tgc	p.G999C	ABCC12_ENST00000448542.1_Missense_Mutation_p.G920V|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	999	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGAATGATGCCCAGGCCCTGC	0.587																																					p.G999C		.											.	ABCC12-93	0			c.G2995T						.						122.0	104.0	110.0					16																	48134826		2201	4300	6501	SO:0001583	missense	94160	exon21			TGATGCCCAGGCC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2995G>T	16.37:g.48134826C>A	ENSP00000311030:p.Gly999Cys	188	0		203	78	NM_033226	0	0	0	0	0	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.58|16.58	3.162193|3.162193	0.57368|0.57368	.|.	.|.	ENSG00000140798|ENSG00000140798	ENST00000311303;ENST00000449939|ENST00000448542	D|D	0.89485|0.92911	-2.52|-3.13	5.39|5.39	4.44|4.44	0.53790|0.53790	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.161269|0.161269	0.56097|0.56097	D|D	0.000024|0.000024	D|D	0.89674|0.89674	0.6783|0.6783	L|L	0.31207|0.31207	0.915|0.915	0.80722|0.80722	D|D	1|1	B|.	0.26041|.	0.14|.	B|.	0.31686|.	0.134|.	D|D	0.89426|0.89426	0.3713|0.3713	10|8	0.72032|0.87932	D|D	0.01|0	.|.	10.1043|10.1043	0.42524|0.42524	0.0:0.9074:0.0:0.0926|0.0:0.9074:0.0:0.0926	.|.	999|.	Q96J65|.	MRP9_HUMAN|.	C|V	999;917|920	ENSP00000311030:G999C|ENSP00000401855:G920V	ENSP00000311030:G999C|ENSP00000401855:G920V	G|G	-|-	1|2	0|0	ABCC12|ABCC12	46692327|46692327	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.702000|0.702000	0.40608|0.40608	1.636000|1.636000	0.37144|0.37144	1.257000|1.257000	0.44085|0.44085	0.561000|0.561000	0.74099|0.74099	GGC|GGG	.		0.587	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
ABCC12	94160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	48173122	48173122	+	Silent	SNP	G	G	T	rs374820619		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:48173122G>T	ENST00000311303.3	-	5	1128	c.783C>A	c.(781-783)ccC>ccA	p.P261P	ABCC12_ENST00000448542.1_Silent_p.P261P|ABCC12_ENST00000416054.1_Silent_p.P261P	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	261	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGAGAGCTGTGGGCCCCAGAA	0.478																																					p.P261P		.											.	ABCC12-93	0			c.C783A						.						130.0	118.0	122.0					16																	48173122		2201	4300	6501	SO:0001819	synonymous_variant	94160	exon5			AGCTGTGGGCCCC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.783C>A	16.37:g.48173122G>T		108	0		116	22	NM_033226	0	0	0	0	0	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	CCDS10730.1																																																																																			.		0.478	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
ABCC11	85320	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	48234290	48234290	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:48234290G>A	ENST00000394747.1	-	14	2328	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L	ABCC11_ENST00000353782.5_Missense_Mutation_p.P660L|ABCC11_ENST00000356608.2_Missense_Mutation_p.P660L|ABCC11_ENST00000537808.1_Missense_Mutation_p.P660L|ABCC11_ENST00000394748.1_Missense_Mutation_p.P660L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	660	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGCAGACAGGGGGTCGTCCAG	0.607																																					p.P660L		.											.	ABCC11-95	0			c.C1979T						.						89.0	74.0	80.0					16																	48234290		2201	4300	6501	SO:0001583	missense	85320	exon14			GACAGGGGGTCGT	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1979C>T	16.37:g.48234290G>A	ENSP00000378230:p.Pro660Leu	135	1		150	78	NM_033151	0	0	0	0	0	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933689	0.92458	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	5.7	5.7	0.88788	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.99383	1.0923	10	0.66056	D	0.02	-26.648	17.3327	0.87269	0.0:0.0:1.0:0.0	.	660;660	Q96J66-2;Q96J66	.;ABCCB_HUMAN	L	660	ENSP00000311326:P660L;ENSP00000349017:P660L;ENSP00000378231:P660L;ENSP00000378230:P660L;ENSP00000438530:P660L	ENSP00000311326:P660L	P	-	2	0	ABCC11	46791791	1.000000	0.71417	0.995000	0.50966	0.688000	0.40055	9.324000	0.96373	2.703000	0.92315	0.655000	0.94253	CCC	.		0.607	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
NOD2	64127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	50744557	50744557	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:50744557G>T	ENST00000300589.2	+	4	840	c.735G>T	c.(733-735)acG>acT	p.T245T	RP11-327F22.6_ENST00000602304.1_RNA|NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	245					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAGCAGAGACGCTCTGCCTGG	0.587																																					p.T245T		.											.	NOD2-231	0			c.G735T						.						66.0	61.0	63.0					16																	50744557		2198	4300	6498	SO:0001819	synonymous_variant	64127	exon4			AGAGACGCTCTGC	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.735G>T	16.37:g.50744557G>T		140	0		129	28	NM_022162	0	0	0	0	0	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	CCDS10746.1																																																																																			.		0.587	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
SALL1	6299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	51173113	51173113	+	Missense_Mutation	SNP	C	C	G	rs369680112		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:51173113C>G	ENST00000251020.4	-	2	3053	c.3020G>C	c.(3019-3021)gGc>gCc	p.G1007A	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.G910A	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1007					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|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)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAATGTTTTGCCACAAATGTC	0.403																																					p.G1007A	GBM(103;1352 1446 1855 4775 8890)	.											.	SALL1-98	0			c.G3020C						.						75.0	76.0	76.0					16																	51173113		2198	4300	6498	SO:0001583	missense	6299	exon2			GTTTTGCCACAAA	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3020G>C	16.37:g.51173113C>G	ENSP00000251020:p.Gly1007Ala	145	0		120	23	NM_002968	0	0	0	0	0	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443563	0.63067	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.35789	1.29;1.29	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.61594	-0.7031	10	0.59425	D	0.04	.	19.6099	0.95600	0.0:1.0:0.0:0.0	.	1007	Q9NSC2	SALL1_HUMAN	A	1007;910;971	ENSP00000251020:G1007A;ENSP00000407914:G910A	ENSP00000251020:G1007A	G	-	2	0	SALL1	49730614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.626000	0.88956	0.557000	0.71058	GGC	.		0.403	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
SALL1	6299	bcgsc.ca	37	16	51175720	51175720	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:51175720C>G	ENST00000251020.4	-	2	446	c.413G>C	c.(412-414)gGc>gCc	p.G138A	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.G41A	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	138					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|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)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTGGAAGTGCCGCTGCCGCT	0.632																																					p.G138A	GBM(103;1352 1446 1855 4775 8890)	.											.	SALL1-98	0			c.G413C						.						39.0	43.0	42.0					16																	51175720		2198	4300	6498	SO:0001583	missense	6299	exon2			GAAGTGCCGCTGC	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.413G>C	16.37:g.51175720C>G	ENSP00000251020:p.Gly138Ala	70	3		110	47	NM_002968	0	0	0	0	0	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	2.703	-0.270534	0.05716	.	.	ENSG00000103449	ENST00000251020;ENST00000440970	T;T	0.05717	3.4;3.4	5.39	4.44	0.53790	.	0.590367	0.19638	N	0.109519	T	0.04452	0.0122	N	0.19112	0.55	0.23215	N	0.998106	B	0.09022	0.002	B	0.09377	0.004	T	0.38779	-0.9645	10	0.09084	T	0.74	.	13.5049	0.61479	0.0:0.925:0.0:0.075	.	138	Q9NSC2	SALL1_HUMAN	A	138;41	ENSP00000251020:G138A;ENSP00000407914:G41A	ENSP00000251020:G138A	G	-	2	0	SALL1	49733221	0.029000	0.19370	0.059000	0.19551	0.036000	0.12997	1.974000	0.40559	2.514000	0.84764	0.555000	0.69702	GGC	.		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
IRX6	79190	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	55360430	55360430	+	Silent	SNP	G	G	T	rs544733025		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:55360430G>T	ENST00000290552.7	+	2	1560	c.228G>T	c.(226-228)gcG>gcT	p.A76A	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	76					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CACCCTATGCGGCCGCTGCAG	0.672																																					p.A76A		.											.	IRX6-174	0			c.G228T						.						14.0	13.0	13.0					16																	55360430		2195	4298	6493	SO:0001819	synonymous_variant	79190	exon2			CTATGCGGCCGCT	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.228G>T	16.37:g.55360430G>T		86	0		126	56	NM_024335	0	0	0	0	0	B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																			.		0.672	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335	
IRX6	79190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	55362936	55362936	+	Missense_Mutation	SNP	C	C	A	rs200996745		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:55362936C>A	ENST00000290552.7	+	5	2378	c.1046C>A	c.(1045-1047)cCg>cAg	p.P349Q	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	349					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTGGAGAAACCGCGCATCTGG	0.602																																					p.P349Q		.											.	IRX6-174	0			c.C1046A						.						53.0	50.0	51.0					16																	55362936		2198	4299	6497	SO:0001583	missense	79190	exon5			AGAAACCGCGCAT	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1046C>A	16.37:g.55362936C>A	ENSP00000290552:p.Pro349Gln	127	0		156	31	NM_024335	0	0	0	0	0	B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086634	0.94100	.	.	ENSG00000159387	ENST00000290552	D	0.96491	-4.03	5.4	5.4	0.78164	Iroquois-class homeodomain protein (1);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.68192	0.956	D	0.97137	0.9822	10	0.87932	D	0	-20.4504	16.0965	0.81129	0.0:1.0:0.0:0.0	.	349	P78412	IRX6_HUMAN	Q	349	ENSP00000290552:P349Q	ENSP00000290552:P349Q	P	+	2	0	IRX6	53920437	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.189000	0.77747	2.532000	0.85374	0.561000	0.74099	CCG	C|0.999;T|0.000		0.602	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335	
CES5A	221223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	55880508	55880508	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:55880508C>A	ENST00000290567.9	-	13	1704	c.1583G>T	c.(1582-1584)gGa>gTa	p.G528V	CES5A_ENST00000520435.1_Missense_Mutation_p.G498V|CES5A_ENST00000518005.1_Missense_Mutation_p.G422V|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Missense_Mutation_p.G478V|CES5A_ENST00000521992.1_Missense_Mutation_p.G557V	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	528						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGTCTCTGTCCGAGGCTCAT	0.527																																					p.G557V		.											.	CES5A-94	0			c.G1670T						.						213.0	208.0	210.0					16																	55880508		2198	4300	6498	SO:0001583	missense	221223	exon14			CTCTGTCCGAGGC	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1583G>T	16.37:g.55880508C>A	ENSP00000290567:p.Gly528Val	167	0		141	73	NM_001190158	0	0	0	0	0	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	15.60	2.881996	0.51908	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.51	4.56	0.56223	Carboxylesterase, type B (1);	0.167616	0.28712	N	0.014396	T	0.74382	0.3709	L	0.50847	1.595	0.25415	N	0.988326	D;D	0.89917	0.999;1.0	D;D	0.87578	0.986;0.998	T	0.65203	-0.6225	10	0.66056	D	0.02	.	8.3719	0.32421	0.0:0.7617:0.155:0.0833	.	528;478	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	V	557;478;422;528;498;308	ENSP00000428864:G557V;ENSP00000324271:G478V;ENSP00000428571:G422V;ENSP00000290567:G528V;ENSP00000428887:G498V	ENSP00000290567:G528V	G	-	2	0	CES5A	54438009	0.026000	0.19158	0.007000	0.13788	0.004000	0.04260	1.197000	0.32211	1.455000	0.47813	0.655000	0.94253	GGA	.		0.527	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	
NUP93	9688	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	56782300	56782300	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:56782300C>G	ENST00000308159.5	+	2	262	c.141C>G	c.(139-141)acC>acG	p.T47T	NUP93_ENST00000569842.1_Silent_p.T47T	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	47					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTTCCCGTACCCTAACACGCA	0.577																																					p.T47T	Colon(33;610 796 1305 1705 38917)	.											.	NUP93-205	0			c.C141G						.						45.0	42.0	43.0					16																	56782300		2198	4300	6498	SO:0001819	synonymous_variant	9688	exon2			CCGTACCCTAACA	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.141C>G	16.37:g.56782300C>G		93	0		77	32	NM_014669	0	0	0	0	0	B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	CCDS10769.1																																																																																			.		0.577	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669	
SLC12A3	6559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	56936360	56936360	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:56936360G>A	ENST00000563236.1	+	24	2821	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E	SLC12A3_ENST00000566786.1_Silent_p.E940E|SLC12A3_ENST00000262502.5_Silent_p.E931E|SLC12A3_ENST00000438926.2_Silent_p.E941E			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	932					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGTCAACGAGATGCGGCGGG	0.552																																					p.E941E		.											.	SLC12A3-155	0			c.G2823A						.						108.0	90.0	96.0					16																	56936360		2198	4300	6498	SO:0001819	synonymous_variant	6559	exon24			CAACGAGATGCGG		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2796G>A	16.37:g.56936360G>A		146	0		157	28	NM_000339	0	0	0	0	0	A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	CCDS58464.1																																																																																			.		0.552	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
DRC7	84229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	57732900	57732900	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:57732900C>A	ENST00000360716.3	+	4	563	c.342C>A	c.(340-342)ccC>ccA	p.P114P	CCDC135_ENST00000336825.8_Silent_p.P114P|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Silent_p.P114P			Q8IY82	CC135_HUMAN		114					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCGCGTGCCCCTCTTCCTGC	0.622																																					p.P114P		.											.	CCDC135-90	0			c.C342A						.						145.0	142.0	143.0					16																	57732900		2198	4300	6498	SO:0001819	synonymous_variant	84229	exon3			CGTGCCCCTCTTC																												ENST00000360716.3:c.342C>A	16.37:g.57732900C>A		109	0		114	24	NM_032269	0	0	0	0	0	A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	CCDS10787.1																																																																																			.		0.622	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2		
DRC7	84229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	57735916	57735916	+	Silent	SNP	G	G	C	rs574958651		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:57735916G>C	ENST00000360716.3	+	6	794	c.573G>C	c.(571-573)acG>acC	p.T191T	CCDC135_ENST00000336825.8_Intron|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Silent_p.T191T			Q8IY82	CC135_HUMAN		191					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACTTCAGTACGCTGCTCTGCT	0.592																																					p.T191T		.											.	CCDC135-90	0			c.G573C						.						182.0	136.0	152.0					16																	57735916		2198	4300	6498	SO:0001819	synonymous_variant	84229	exon5			CAGTACGCTGCTC																												ENST00000360716.3:c.573G>C	16.37:g.57735916G>C		189	0		195	25	NM_032269	0	0	0	0	0	A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	CCDS10787.1																																																																																			.		0.592	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2		
SLC38A7	55238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	58713931	58713931	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:58713931C>A	ENST00000570101.1	-	2	983	c.100G>T	c.(100-102)Gcc>Tcc	p.A34S	SLC38A7_ENST00000219320.4_Missense_Mutation_p.A34S|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000564100.1_Missense_Mutation_p.A34S|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564391.1_Missense_Mutation_p.A34S			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	34					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CTCTTGGGGGCTGTGTCCACA	0.627																																					p.A34S		.											.	SLC38A7-69	0			c.G100T						.						34.0	32.0	33.0					16																	58713931		2198	4300	6498	SO:0001583	missense	55238	exon3			TGGGGGCTGTGTC	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.100G>T	16.37:g.58713931C>A	ENSP00000454646:p.Ala34Ser	85	0		80	32	NM_018231	0	0	0	0	0	Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698439	0.30142	.	.	ENSG00000103042	ENST00000219320	T	0.09538	2.97	5.66	5.66	0.87406	.	0.415584	0.30028	N	0.010584	T	0.07369	0.0186	N	0.12182	0.205	0.23346	N	0.997867	B;B	0.19583	0.001;0.037	B;B	0.12837	0.002;0.008	T	0.33240	-0.9876	9	.	.	.	-0.0325	16.901	0.86113	0.0:1.0:0.0:0.0	.	34;34	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	S	34	ENSP00000219320:A34S	.	A	-	1	0	SLC38A7	57271432	0.016000	0.18221	0.438000	0.26821	0.986000	0.74619	2.250000	0.43178	2.673000	0.90976	0.561000	0.74099	GCC	.		0.627	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231	
GOT2	2806	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	58768113	58768113	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:58768113C>A	ENST00000245206.5	-	1	148	c.20G>T	c.(19-21)gGc>gTc	p.G7V	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.G7V	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	7					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GAGGACGCGGCCGGAGTGCAG	0.721																																					p.G7V		.											.	GOT2-91	0			c.G20T						.						7.0	8.0	7.0					16																	58768113		2095	4157	6252	SO:0001583	missense	2806	exon1			ACGCGGCCGGAGT		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.20G>T	16.37:g.58768113C>A	ENSP00000245206:p.Gly7Val	15	0		127	44	NM_002080	0	0	0	0	0	B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032676	0.35893	.	.	ENSG00000125166	ENST00000245206;ENST00000434819;ENST00000425685	T;T	0.17691	2.26;2.3	4.94	3.98	0.46160	.	0.678056	0.15664	N	0.250772	T	0.13798	0.0334	L	0.36672	1.1	0.32789	N	0.501456	B;B	0.15141	0.012;0.012	B;B	0.16289	0.015;0.015	T	0.11348	-1.0591	9	.	.	.	-3.1049	10.824	0.46620	0.0:0.7859:0.2141:0.0	.	7;7	E7ERW2;P00505	.;AATM_HUMAN	V	7	ENSP00000245206:G7V;ENSP00000394100:G7V	.	G	-	2	0	GOT2	57325614	0.742000	0.28228	0.410000	0.26471	0.501000	0.33797	1.833000	0.39161	1.268000	0.44264	0.563000	0.77884	GGC	.		0.721	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3		
CDH8	1006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	61851398	61851398	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:61851398G>C	ENST00000577390.1	-	7	2216	c.1262C>G	c.(1261-1263)aCt>aGt	p.T421S	CDH8_ENST00000584337.1_Missense_Mutation_p.T421S|CDH8_ENST00000299345.6_Missense_Mutation_p.T421S|CDH8_ENST00000577730.1_Missense_Mutation_p.T421S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.T421I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGGACTGGAAGTGATATCAGG	0.433																																					p.T421S		.											.	CDH8-161	1	Substitution - Missense(1)	lung(1)	c.C1262G						.						69.0	66.0	67.0					16																	61851398		2203	4300	6503	SO:0001583	missense	1006	exon7			CTGGAAGTGATAT	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1262C>G	16.37:g.61851398G>C	ENSP00000462701:p.Thr421Ser	146	0		134	53	NM_001796	0	0	0	0	0	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379611	0.24944	.	.	ENSG00000150394	ENST00000299345	T	0.58940	0.3	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.190689	0.56097	D	0.000028	T	0.50786	0.1636	L	0.35288	1.05	0.44937	D	0.997954	B;B	0.10296	0.003;0.0	B;B	0.18871	0.023;0.002	T	0.37150	-0.9718	10	0.21540	T	0.41	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	237;421	Q3LID3;P55286	.;CADH8_HUMAN	S	421	ENSP00000299345:T421S	ENSP00000299345:T421S	T	-	2	0	CDH8	60408899	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.327000	0.65881	2.894000	0.99253	0.655000	0.94253	ACT	.		0.433	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
TRADD	8717	hgsc.bcm.edu	37	16	67189373	67189373	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:67189373C>A	ENST00000345057.4	-	3	804	c.336G>T	c.(334-336)gtG>gtT	p.V112V	TRADD_ENST00000486556.1_Silent_p.V52V|TRADD_ENST00000566104.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	112					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GTTGCAGCGGCACCGAGTGCT	0.751																																					p.V112V		.											.	TRADD-659	0			c.G336T						.						5.0	6.0	5.0					16																	67189373		1700	3664	5364	SO:0001819	synonymous_variant	8717	exon3			CAGCGGCACCGAG	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.336G>T	16.37:g.67189373C>A		3	0		22	13	NM_003789	0	0	0	0	0	B2RDS3|B3KQZ9|Q52NZ1	Silent	SNP	ENST00000345057.4	37	CCDS10829.1																																																																																			.		0.751	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2		
DPEP3	64180	broad.mit.edu;ucsc.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	68012505	68012506	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	|G	|G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:68012505_68012506GG>TT	ENST00000268793.4	-	3	886_887	c.513_514CC>AA	c.(511-516)tgCCag>tgAAag	p.171_172CQ>*K	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	146					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCCTGGGACTGGCATGAGACGG	0.614																																					p.Q172K|p.C171X		.											.	DPEP3-71	0			c.C514A|c.C513A						.																																			SO:0001587	stop_gained	64180	exon3			GGGACTGGCATGA|GGACTGGCATGAG	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.513_514delinsTT	16.37:g.68012505_68012506delinsTT	ENSP00000268793:p.C171_Q172delins*K	136	1|0		171|170	37	NM_001129758	0	0	0	0	0	B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000268793.4	37	CCDS10856.1																																																																																			.		0.614	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357	
SMPD3	55512	bcgsc.ca	37	16	68398924	68398924	+	Silent	SNP	C	C	T	rs1868158	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:68398924C>T	ENST00000219334.5	-	4	1998	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P	SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Silent_p.P465P|SMPD3_ENST00000568373.1_Silent_p.P465P	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	465					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCCTACCTTGCGGGGCATGCA	0.607													C|||	3167	0.632388	0.6679	0.6671	5008	,	,		18917	0.7698		0.5308	False		,,,				2504	0.5225				p.P465P		.											.	SMPD3-91	0			c.G1395A						.	C		2877,1519	673.2+/-402.8	948,981,269	111.0	79.0	90.0		1395	-3.5	0.0	16	dbSNP_92	90	4964,3636	624.1+/-397.5	1427,2110,763	no	coding-synonymous	SMPD3	NM_018667.3		2375,3091,1032	TT,TC,CC		42.2791,34.5541,39.6661		465/656	68398924	7841,5155	2198	4300	6498	SO:0001819	synonymous_variant	55512	exon4			ACCTTGCGGGGCA	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1395G>A	16.37:g.68398924C>T		136	0		189	6	NM_018667	0	0	0	0	0	B7ZL82|Q2M1S8	Silent	SNP	ENST00000219334.5	37	CCDS10867.1																																																																																			C|0.368;T|0.632		0.607	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667	
PDPR	55066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	70182454	70182454	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:70182454G>A	ENST00000288050.4	+	17	3007	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	PDPR_ENST00000568530.1_Missense_Mutation_p.E684K|PDPR_ENST00000567046.1_Missense_Mutation_p.E42K|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.E584K|PDPR_ENST00000542659.1_Missense_Mutation_p.E29K	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	684					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CATCCCCATAGAGGTGAGAGG	0.577																																					p.E684K		.											.	PDPR-135	0			c.G2050A						.						73.0	73.0	73.0					16																	70182454		2125	4228	6353	SO:0001583	missense	55066	exon17			CCCATAGAGGTGA		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2050G>A	16.37:g.70182454G>A	ENSP00000288050:p.Glu684Lys	342	0		405	56	NM_017990	0	0	0	0	0	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	36	5.681499	0.96774	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	T;T;T	0.77620	-1.11;-1.11;-1.11	5.15	5.15	0.70609	Glycine cleavage T-protein, N-terminal (1);	0.048851	0.85682	D	0.000000	D	0.88822	0.6541	M	0.82323	2.585	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.72625	0.959;0.978	D	0.90277	0.4312	10	0.66056	D	0.02	.	17.6091	0.88047	0.0:0.0:1.0:0.0	.	412;684	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	K	684;584;412;29	ENSP00000288050:E684K;ENSP00000381190:E584K;ENSP00000441690:E29K	ENSP00000205055:E412K	E	+	1	0	PDPR	68739955	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.805000	0.99149	2.404000	0.81709	0.555000	0.69702	GAG	.		0.577	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	
FUK	197258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	70512517	70512517	+	Missense_Mutation	SNP	C	C	T	rs528370718		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:70512517C>T	ENST00000288078.6	+	22	3125	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	FUK_ENST00000571514.1_Missense_Mutation_p.R456W|FUK_ENST00000378912.2_Missense_Mutation_p.R971W	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	965						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CAGCCTGGTACGGCAAACTGA	0.617																																					p.R965W		.											.	FUK-91	0			c.C2893T						.						44.0	46.0	45.0					16																	70512517		1983	4164	6147	SO:0001583	missense	197258	exon22			CTGGTACGGCAAA		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.2893C>T	16.37:g.70512517C>T	ENSP00000288078:p.Arg965Trp	49	0		65	29	NM_145059	0	0	0	0	0	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	3.539	-0.094136	0.07053	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000538525	D;D	0.93604	-3.25;-3.25	5.56	2.2	0.27929	.	0.870586	0.10479	N	0.669819	D	0.88819	0.6540	L	0.29908	0.895	0.09310	N	0.999999	P;D;D	0.59357	0.902;0.985;0.985	P;B;B	0.45138	0.471;0.232;0.232	T	0.80238	-0.1465	10	0.72032	D	0.01	-5.8952	7.3288	0.26571	0.4288:0.3367:0.2345:0.0	.	971;871;965	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	W	965;971;279	ENSP00000288078:R965W;ENSP00000368192:R971W	ENSP00000288078:R965W	R	+	1	2	FUK	69070018	0.964000	0.33143	0.026000	0.17262	0.049000	0.14656	2.551000	0.45820	0.661000	0.30985	-0.175000	0.13238	CGG	.		0.617	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059	
PKD1L3	342372	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	71988174	71988174	+	RNA	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:71988174T>A	ENST00000534738.1	-	0	2638							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						GGTGAACTTTTCCACAATCAT	0.423																																					.		.											.	PKD1L3-68	0			.						.						108.0	92.0	97.0					16																	71988174		692	1591	2283			342372	.			AACTTTTCCACAA	AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.71988174T>A		97	0		113	26	.	0	0	0	0	0		RNA	SNP	ENST00000534738.1	37																																																																																				.		0.423	PKD1L3-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000387876.1	NM_181536	
PKD1L3	342372	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	72032247	72032247	+	RNA	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:72032247G>C	ENST00000534738.1	-	0	341							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						TTCTGGACAGGTAGGTGCAGC	0.507																																					.		.											.	PKD1L3-68	0			.						.						122.0	105.0	110.0					16																	72032247		692	1591	2283			342372	.			GGACAGGTAGGTG	AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72032247G>C		115	0		94	35	.	0	0	0	0	0		RNA	SNP	ENST00000534738.1	37																																																																																				.		0.507	PKD1L3-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000387876.1	NM_181536	
DHX38	9785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	72144969	72144969	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:72144969A>T	ENST00000268482.3	+	26	4101	c.3592A>T	c.(3592-3594)Agt>Tgt	p.S1198C	DHX38_ENST00000536867.1_Missense_Mutation_p.S510C	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1198					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCCCCTGGGCAGTGTCAGGTG	0.677																																					p.S1198C	Melanoma(97;711 1442 7855 13832 28836)	.											.	DHX38-227	0			c.A3592T						.						13.0	14.0	14.0					16																	72144969		2175	4271	6446	SO:0001583	missense	9785	exon26			CTGGGCAGTGTCA	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3592A>T	16.37:g.72144969A>T	ENSP00000268482:p.Ser1198Cys	36	0		104	17	NM_014003	0	0	0	0	0	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712087	0.89112	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.10382	4.03;2.88	5.45	5.45	0.79879	.	0.160534	0.53938	D	0.000052	T	0.21022	0.0506	M	0.62723	1.935	0.80722	D	1	P;D	0.53151	0.931;0.958	P;P	0.49361	0.49;0.608	T	0.00613	-1.1644	10	0.66056	D	0.02	.	15.5363	0.76004	1.0:0.0:0.0:0.0	.	510;1198	B4DVG8;Q92620	.;PRP16_HUMAN	C	1198;510	ENSP00000268482:S1198C;ENSP00000437898:S510C	ENSP00000268482:S1198C	S	+	1	0	DHX38	70702470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.772000	0.91757	2.067000	0.61834	0.528000	0.53228	AGT	.		0.677	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
ZFHX3	463	ucsc.edu;bcgsc.ca	37	16	72993272	72993272	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:72993272T>A	ENST00000268489.5	-	2	1445	c.773A>T	c.(772-774)aAa>aTa	p.K258I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	258					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGAACATCTTTGGATACGCA	0.502																																					p.K258I		.											.	ZFHX3-72	0			c.A773T						.						162.0	142.0	149.0					16																	72993272		2198	4300	6498	SO:0001583	missense	463	exon2			ACATCTTTGGATA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.773A>T	16.37:g.72993272T>A	ENSP00000268489:p.Lys258Ile	135	2		116	60	NM_006885	0	0	0	0	0	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.964823	0.34659	.	.	ENSG00000140836	ENST00000268489	T	0.78126	-1.15	4.51	4.51	0.55191	.	0.000000	0.52532	D	0.000078	D	0.85327	0.5671	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87059	0.2152	10	0.87932	D	0	.	14.1268	0.65225	0.0:0.0:0.0:1.0	.	258	Q15911	ZFHX3_HUMAN	I	258	ENSP00000268489:K258I	ENSP00000268489:K258I	K	-	2	0	ZFHX3	71550773	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.948000	0.87774	1.814000	0.52955	0.402000	0.26972	AAA	.		0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
ADAT1	23536	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	75637040	75637040	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:75637040C>A	ENST00000307921.3	-	10	1464	c.1319G>T	c.(1318-1320)aGa>aTa	p.R440I	RP11-77K12.8_ENST00000564489.1_RNA|ADAT1_ENST00000568478.1_5'Flank	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	440	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CTGGAATGATCTGAAGAGTTC	0.413																																					p.R440I		.											.	ADAT1-92	0			c.G1319T						.						291.0	276.0	281.0					16																	75637040		2198	4300	6498	SO:0001583	missense	23536	exon10			AATGATCTGAAGA	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1319G>T	16.37:g.75637040C>A	ENSP00000310015:p.Arg440Ile	125	0		111	13	NM_012091	0	0	0	0	0	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203892	0.58234	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.93859	-3.3	5.5	4.53	0.55603	Adenosine deaminase/editase (3);	0.389335	0.32901	N	0.005511	D	0.93239	0.7846	M	0.67953	2.075	0.42521	D	0.993006	D	0.56287	0.975	P	0.51974	0.686	D	0.91624	0.5313	10	0.39692	T	0.17	-5.1602	9.2489	0.37543	0.0:0.8554:0.0:0.1446	.	440	Q9BUB4	ADAT1_HUMAN	I	440;411	ENSP00000310015:R440I	ENSP00000310015:R440I	R	-	2	0	ADAT1	74194541	0.213000	0.23551	1.000000	0.80357	0.988000	0.76386	1.201000	0.32259	2.732000	0.93576	0.650000	0.86243	AGA	.		0.413	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091	
CNTNAP4	85445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	76486501	76486501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:76486501G>T	ENST00000476707.1	+	7	1316	c.1177G>T	c.(1177-1179)Gag>Tag	p.E393*	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Nonsense_Mutation_p.E389*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.E341*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.E317*			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	390					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCTGGAGAGGAGGAGGTTTC	0.458																																					p.E317X		.											.	CNTNAP4-70	0			c.G949T						.						101.0	100.0	100.0					16																	76486501		2198	4300	6498	SO:0001587	stop_gained	85445	exon7			GGAGAGGAGGAGG	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1177G>T	16.37:g.76486501G>T	ENSP00000417628:p.Glu393*	92	0		64	21	NM_138994	0	0	0	0	0	E9PFZ6|Q86YZ7	Nonsense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.677251	0.96764	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	5.52	5.52	0.82312	.	0.523960	0.15646	N	0.251621	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.2513	0.93926	0.0:0.0:1.0:0.0	.	.	.	.	X	389;341;317;393	.	ENSP00000306893:E389X	E	+	1	0	CNTNAP4	75044002	0.998000	0.40836	0.879000	0.34478	0.789000	0.44602	3.260000	0.51523	2.880000	0.98712	0.655000	0.94253	GAG	.		0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
CNTNAP4	85445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	76555117	76555117	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:76555117G>C	ENST00000476707.1	+	15	2594	c.2455G>C	c.(2455-2457)Gat>Cat	p.D819H	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.D815H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D767H|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D743H			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	816	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTTAGCGCGGATGTATCTTT	0.388																																					p.D743H		.											.	CNTNAP4-70	0			c.G2227C						.						236.0	221.0	226.0					16																	76555117		1817	4073	5890	SO:0001583	missense	85445	exon15			AGCGCGGATGTAT	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2455G>C	16.37:g.76555117G>C	ENSP00000417628:p.Asp819His	60	0		34	15	NM_138994	0	0	0	0	0	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.059564	0.76074	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	4.99	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.42682	D	0.000672	T	0.75064	0.3799	.	.	.	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;P	0.83275	0.967;0.996;0.904	T	0.78848	-0.2042	9	0.87932	D	0	.	18.4567	0.90722	0.0:0.0:1.0:0.0	.	743;819;816	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	H	815;767;743;819	ENSP00000306893:D815H;ENSP00000439733:D767H;ENSP00000418741:D743H;ENSP00000417628:D819H	ENSP00000306893:D815H	D	+	1	0	CNTNAP4	75112618	1.000000	0.71417	0.713000	0.30519	0.709000	0.40893	9.618000	0.98365	2.610000	0.88304	0.561000	0.74099	GAT	.		0.388	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
VAT1L	57687	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	77913114	77913114	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:77913114C>A	ENST00000302536.2	+	6	1028	c.875C>A	c.(874-876)gCa>gAa	p.A292E	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	292							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTCAGCTTTGCAAAATCAGTA	0.393																																					p.A292E		.											.	VAT1L-90	0			c.C875A						.						189.0	176.0	180.0					16																	77913114		2198	4300	6498	SO:0001583	missense	57687	exon6			GCTTTGCAAAATC	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.875C>A	16.37:g.77913114C>A	ENSP00000303129:p.Ala292Glu	252	1		161	30	NM_020927	0	0	0	0	0	Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204673	0.95033	.	.	ENSG00000171724	ENST00000302536	T	0.30714	1.52	5.91	5.91	0.95273	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68606	-0.5364	10	0.87932	D	0	-13.9564	19.8936	0.96942	0.0:1.0:0.0:0.0	.	292	Q9HCJ6	VAT1L_HUMAN	E	292	ENSP00000303129:A292E	ENSP00000303129:A292E	A	+	2	0	VAT1L	76470615	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.463000	0.80869	2.793000	0.96121	0.655000	0.94253	GCA	.		0.393	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927	
C16orf74	404550	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	85743810	85743810	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:85743810G>T	ENST00000284245.4	-	3	315	c.132C>A	c.(130-132)acC>acA	p.T44T	C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602719.1_Silent_p.T44T|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602583.1_Silent_p.T32T|C16orf74_ENST00000602675.1_5'UTR	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	44																	TGCCCGTGGGGGTGGGGGGCG	0.672																																					p.T44T		.											.	C16orf74-22	0			c.C132A						.						10.0	13.0	12.0					16																	85743810		2087	4196	6283	SO:0001819	synonymous_variant	404550	exon3			CGTGGGGGTGGGG	BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.132C>A	16.37:g.85743810G>T		58	1		79	29	NM_206967	0	0	0	0	0		Silent	SNP	ENST00000284245.4	37	CCDS45540.1																																																																																			.		0.672	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467253.1	NM_206967	
ZCCHC14	23174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	87445728	87445728	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:87445728T>A	ENST00000268616.4	-	12	2405	c.2188A>T	c.(2188-2190)Agc>Tgc	p.S730C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	730	Ser-rich.						nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGCTGGAGCTGGGGGCTGGG	0.627																																					p.S730C		.											.	ZCCHC14-154	0			c.A2188T						.						37.0	43.0	41.0					16																	87445728		2198	4297	6495	SO:0001583	missense	23174	exon12			TGGAGCTGGGGGC	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2188A>T	16.37:g.87445728T>A	ENSP00000268616:p.Ser730Cys	58	0		59	11	NM_015144	0	0	0	0	0	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	T	8.735	0.917475	0.17982	.	.	ENSG00000140948	ENST00000268616	T	0.20881	2.04	5.83	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	L	0.32530	0.975	0.35426	D	0.793656	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.921	T	0.44682	-0.9312	10	0.72032	D	0.01	-21.6281	11.7661	0.51930	0.0:0.0686:0.0:0.9314	.	730;730	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	C	730	ENSP00000268616:S730C	ENSP00000268616:S730C	S	-	1	0	ZCCHC14	86003229	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	3.011000	0.49567	1.033000	0.39918	-0.371000	0.07208	AGC	.		0.627	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	
ZNF469	84627	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	88494585	88494585	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:88494585C>G	ENST00000437464.1	+	1	707	c.707C>G	c.(706-708)cCt>cGt	p.P236R	ZNF469_ENST00000565624.1_Missense_Mutation_p.P236R	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	236	Pro-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(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GACTCCTGGCCTCCCGCTGCT	0.711																																					p.P236R		.											.	.	0			c.C707G						.						7.0	9.0	8.0					16																	88494585		687	1585	2272	SO:0001583	missense	84627	exon1			CCTGGCCTCCCGC	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.707C>G	16.37:g.88494585C>G	ENSP00000402343:p.Pro236Arg	129	0		80	27	NM_001127464	0	0	0	0	0		Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989041	0.35131	.	.	ENSG00000225614	ENST00000437464	T	0.07327	3.2	4.34	4.34	0.51931	.	.	.	.	.	T	0.13372	0.0324	N	0.19112	0.55	0.22571	N	0.998976	D	0.65815	0.995	P	0.60886	0.88	T	0.11891	-1.0569	9	0.87932	D	0	.	10.7973	0.46468	0.1897:0.8103:0.0:0.0	.	236	Q96JG9	ZN469_HUMAN	R	236	ENSP00000402343:P236R	ENSP00000402343:P236R	P	+	2	0	ZNF469	87022086	0.877000	0.30153	0.985000	0.45067	0.860000	0.49131	2.017000	0.40981	1.958000	0.56883	0.462000	0.41574	CCT	.		0.711	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ZNF469	84627	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	88495049	88495049	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:88495049C>A	ENST00000437464.1	+	1	1171	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	ZNF469_ENST00000565624.1_Missense_Mutation_p.L391M	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	391	Pro-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(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CCAGGATGGGCTGGGGAGCAC	0.642																																					p.L391M		.											.	.	0			c.C1171A						.						7.0	9.0	9.0					16																	88495049		685	1568	2253	SO:0001583	missense	84627	exon1			GATGGGCTGGGGA	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.1171C>A	16.37:g.88495049C>A	ENSP00000402343:p.Leu391Met	79	0		94	31	NM_001127464	0	0	0	0	0		Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	.	.	.	.	.	.	.	.	.	.	C	4.500	0.092675	0.08632	.	.	ENSG00000225614	ENST00000437464	T	0.09630	2.96	4.54	0.53	0.17102	.	.	.	.	.	T	0.08133	0.0203	N	0.14661	0.345	0.09310	N	1	P	0.35844	0.524	B	0.41946	0.371	T	0.37244	-0.9714	9	0.72032	D	0.01	.	7.112	0.25396	0.2822:0.4311:0.2867:0.0	.	391	Q96JG9	ZN469_HUMAN	M	391	ENSP00000402343:L391M	ENSP00000402343:L391M	L	+	1	2	ZNF469	87022550	0.000000	0.05858	0.012000	0.15200	0.085000	0.17905	0.149000	0.16243	0.299000	0.22661	0.407000	0.27541	CTG	.		0.642	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ZNF469	84627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	88502418	88502418	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:88502418A>T	ENST00000437464.1	+	2	8456	c.8456A>T	c.(8455-8457)aAg>aTg	p.K2819M	ZNF469_ENST00000565624.1_Missense_Mutation_p.K2847M	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	2819					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						TCCAGTGCCAAGGATCCTCCA	0.607																																					p.K2819M		.											.	.	0			c.A8456T						.						13.0	17.0	16.0					16																	88502418		691	1588	2279	SO:0001583	missense	84627	exon2			GTGCCAAGGATCC	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.8456A>T	16.37:g.88502418A>T	ENSP00000402343:p.Lys2819Met	49	0		42	12	NM_001127464	0	0	0	0	0		Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	.	.	.	.	.	.	.	.	.	.	A	7.027	0.559775	0.13436	.	.	ENSG00000225614	ENST00000437464	T	0.47177	0.85	4.71	1.4	0.22301	.	.	.	.	.	T	0.26702	0.0653	N	0.14661	0.345	0.09310	N	1	B	0.31519	0.327	B	0.31191	0.125	T	0.18713	-1.0328	9	0.59425	D	0.04	.	4.2305	0.10601	0.2559:0.0:0.5809:0.1632	.	2819	Q96JG9	ZN469_HUMAN	M	2819	ENSP00000402343:K2819M	ENSP00000402343:K2819M	K	+	2	0	ZNF469	87029919	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.013000	0.12678	0.524000	0.28502	-0.441000	0.05720	AAG	.		0.607	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ZFPM1	161882	hgsc.bcm.edu	37	16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-	rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	1	0		26	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
GAS8	2622	bcgsc.ca	37	16	90095597	90095597	+	Intron	SNP	T	T	C	rs61118444|rs71137702	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:90095597T>C	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.I52V	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcaggctatggggcagcct	0.662													t|||	2317	0.46266	0.3767	0.4611	5008	,	,		15322	0.63		0.3757	False		,,,				2504	0.4969				p.I52V		.											.	C16orf3-90	0			c.A154G						.						20.0	23.0	22.0					16																	90095597		2197	4299	6496	SO:0001627	intron_variant	750	exon1			AGGCTATGGGGCA	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1467T>C	16.37:g.90095597T>C		70	2		122	23	NM_001214	0	0	0	0	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	t	0.096	-1.158920	0.01686	.	.	ENSG00000221819	ENST00000408886	T	0.47177	0.85	.	.	.	.	.	.	.	.	T	0.17408	0.0418	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	5	.	.	.	.	.	.	.	rs61118444;rs62640378	60	O95177	CP003_HUMAN	V	52	ENSP00000386218:I52V	.	I	-	1	0	C16orf3	88623098	0.005000	0.15991	0.000000	0.03702	0.009000	0.06853	-2.049000	0.01405	-2.579000	0.00463	-1.976000	0.00459	ATA	T|0.361;C|0.639		0.662	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
VPS53	55275	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	505108	505108	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:505108G>A	ENST00000571805.1	-	12	1281	c.1145C>T	c.(1144-1146)aCc>aTc	p.T382I	VPS53_ENST00000401468.3_Missense_Mutation_p.T105I|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Missense_Mutation_p.T353I|VPS53_ENST00000446250.2_Missense_Mutation_p.T184I|VPS53_ENST00000437048.2_Missense_Mutation_p.T382I|VPS53_ENST00000574029.1_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	382					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GAAGGGATTGGTAGATGGGGG	0.448																																					p.T382I		.											.	VPS53-90	0			c.C1145T						.						208.0	199.0	202.0					17																	505108		2203	4300	6503	SO:0001583	missense	55275	exon12			GGATTGGTAGATG		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1145C>T	17.37:g.505108G>A	ENSP00000459312:p.Thr382Ile	79	0		79	22	NM_001128159	0	0	0	0	0	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37		.	.	.	.	.	.	.	.	.	.	G	16.69	3.193126	0.58017	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T;T	0.46451	1.5;1.5;1.5;0.87;1.49	5.81	5.81	0.92471	Vps53-like, N-terminal (1);	0.043739	0.85682	D	0.000000	T	0.30947	0.0781	N	0.12569	0.235	0.58432	D	0.999994	B;B;B;B;P	0.39737	0.111;0.054;0.008;0.437;0.685	B;B;B;B;B	0.40009	0.045;0.065;0.014;0.241;0.316	T	0.11616	-1.0580	10	0.44086	T	0.13	-6.6295	17.2658	0.87086	0.0:0.0:1.0:0.0	.	105;382;184;382;353	E7EVT8;Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;.;VPS53_HUMAN;.	I	382;184;353;105;334	ENSP00000401435:T382I;ENSP00000394386:T184I;ENSP00000291074:T353I;ENSP00000384294:T105I;ENSP00000373692:T334I	ENSP00000291074:T353I	T	-	2	0	VPS53	451858	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	4.462000	0.60121	2.759000	0.94783	0.573000	0.79308	ACC	.		0.448	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289	
OR1A2	26189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	3101229	3101229	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3101229G>T	ENST00000381951.1	+	1	417	c.417G>T	c.(415-417)cgG>cgT	p.R139R		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	139					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGAGTCCACGGTCTTGTATCC	0.522																																					p.R139R		.											.	OR1A2-70	0			c.G417T						.						159.0	137.0	145.0					17																	3101229		2203	4300	6503	SO:0001819	synonymous_variant	26189	exon1			TCCACGGTCTTGT	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.417G>T	17.37:g.3101229G>T		232	0		214	46	NM_012352	0	0	0	0	0	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	CCDS11021.1																																																																																			.		0.522	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352	
TRPV1	7442	broad.mit.edu;bcgsc.ca	37	17	3470249	3470249	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3470249C>A	ENST00000571088.1	-	16	2593	c.2380G>T	c.(2380-2382)Gtc>Ttc	p.V794F	TRPV1_ENST00000399756.4_Missense_Mutation_p.V794F|TRPV1_ENST00000174621.6_Missense_Mutation_p.V792F|TRPV1_ENST00000425167.2_Missense_Mutation_p.V805F|TRPV1_ENST00000576351.1_Missense_Mutation_p.V784F|TRPV1_ENST00000399759.3_Missense_Mutation_p.V794F|TRPV1_ENST00000310522.5_Missense_Mutation_p.V734F|SHPK_ENST00000572705.1_Missense_Mutation_p.V794F	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	794	Interaction with calmodulin. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AAAAGGGGGACCAGGGCAAAG	0.498																																					p.V794F	Melanoma(38;962 1762 15789)	.											.	TRPV1-23	0			c.G2380T						.						39.0	40.0	39.0					17																	3470249		1935	4136	6071	SO:0001583	missense	7442	exon16			GGGGGACCAGGGC	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.2380G>T	17.37:g.3470249C>A	ENSP00000461007:p.Val794Phe	76	2		87	36	NM_018727	0	0	0	0	0	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051190	0.75960	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.92752	-2.92;-2.92;-3.1;-2.86;-2.77	5.36	5.36	0.76844	.	0.262799	0.29707	N	0.011416	D	0.92857	0.7728	L	0.50333	1.59	0.45250	D	0.998258	P;D;P;P	0.56035	0.585;0.974;0.846;0.916	B;P;B;P	0.53861	0.187;0.736;0.284;0.584	D	0.93340	0.6709	10	0.87932	D	0	-11.8012	14.9629	0.71169	0.0:1.0:0.0:0.0	.	794;792;734;805	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	F	794;794;792;805;734	ENSP00000382661:V794F;ENSP00000382659:V794F;ENSP00000174621:V792F;ENSP00000409627:V805F;ENSP00000311692:V734F	ENSP00000174621:V792F	V	-	1	0	TRPV1	3416999	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.325000	0.52030	2.676000	0.91093	0.655000	0.94253	GTC	.		0.498	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	
GSG2	83903	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	3628702	3628702	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3628702G>T	ENST00000325418.4	+	1	1492	c.1473G>T	c.(1471-1473)ggG>ggT	p.G491G	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										AGAAGATTGGGGAAGGGGTGT	0.463																																					p.G491G		.											.	GSG2-297	0			c.G1473T						.						58.0	56.0	57.0					17																	3628702		2203	4300	6503	SO:0001819	synonymous_variant	83903	exon1			GATTGGGGAAGGG	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1473G>T	17.37:g.3628702G>T		163	0		146	27	NM_031965	0	0	0	0	0	Q5U5K3|Q96MN1|Q9BXS7	Silent	SNP	ENST00000325418.4	37	CCDS11036.1																																																																																			.		0.463	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965	
ITGAE	3682	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	3655152	3655152	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3655152A>G	ENST00000263087.4	-	15	1783	c.1685T>C	c.(1684-1686)tTg>tCg	p.L562S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	562					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TATGCGTGCCAAGGAGAAAGA	0.572																																					p.L562S	NSCLC(182;635 2928 8995 38788)	.											.	ITGAE-161	0			c.T1685C						.						53.0	55.0	54.0					17																	3655152		2203	4300	6503	SO:0001583	missense	3682	exon15			CGTGCCAAGGAGA	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1685T>C	17.37:g.3655152A>G	ENSP00000263087:p.Leu562Ser	221	0		204	54	NM_002208	0	0	0	0	0	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.826867	0.32329	.	.	ENSG00000083457	ENST00000263087	T	0.27256	1.68	3.89	3.89	0.44902	.	.	.	.	.	T	0.22044	0.0531	L	0.51914	1.62	0.23827	N	0.996734	B	0.24721	0.11	B	0.16722	0.016	T	0.13548	-1.0505	9	0.22706	T	0.39	.	9.4691	0.38831	1.0:0.0:0.0:0.0	.	562	P38570	ITAE_HUMAN	S	562	ENSP00000263087:L562S	ENSP00000263087:L562S	L	-	2	0	ITGAE	3601901	0.029000	0.19370	0.955000	0.39395	0.086000	0.17979	0.905000	0.28504	1.565000	0.49641	0.454000	0.30748	TTG	.		0.572	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
ZZEF1	23140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	3955316	3955316	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3955316T>A	ENST00000381638.2	-	35	5673	c.5549A>T	c.(5548-5550)gAt>gTt	p.D1850V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1850							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATCAAAGTCATCGCAAACATT	0.493																																					p.D1850V		.											.	ZZEF1-93	0			c.A5549T						.						145.0	118.0	127.0					17																	3955316		2203	4300	6503	SO:0001583	missense	23140	exon35			AAGTCATCGCAAA	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5549A>T	17.37:g.3955316T>A	ENSP00000371051:p.Asp1850Val	128	0		110	23	NM_015113	0	0	0	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669218	0.88348	.	.	ENSG00000074755	ENST00000381638	D	0.91792	-2.91	5.64	5.64	0.86602	Zinc finger, ZZ-type (4);	0.108901	0.64402	D	0.000008	D	0.90363	0.6984	L	0.31420	0.93	0.80722	D	1	P;P	0.37781	0.579;0.608	B;P	0.46049	0.281;0.502	D	0.91317	0.5079	10	0.87932	D	0	-10.2619	14.4331	0.67264	0.0:0.0:0.0:1.0	.	1850;1850	O43149-2;O43149	.;ZZEF1_HUMAN	V	1850	ENSP00000371051:D1850V	ENSP00000371051:D1850V	D	-	2	0	ZZEF1	3902065	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.688000	0.84153	2.145000	0.66743	0.460000	0.39030	GAT	.		0.493	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
ZZEF1	23140	hgsc.bcm.edu;bcgsc.ca	37	17	3959640	3959640	+	Splice_Site	SNP	C	C	A	rs60052193		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3959640C>A	ENST00000381638.2	-	33	5290		c.e33-1		RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1								calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACTCCATTGGCTGAAAGAAGG	0.433																																					.		.											.	ZZEF1-93	0			c.5166-1G>T						.						74.0	69.0	71.0					17																	3959640		2203	4300	6503	SO:0001630	splice_region_variant	23140	exon34			CATTGGCTGAAAG	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5166-1G>T	17.37:g.3959640C>A		55	0		56	10	NM_015113	0	0	0	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Splice_Site	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135068	0.77662	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6719	0.91514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZZEF1	3906389	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.443000	0.80521	2.410000	0.81850	0.563000	0.77884	.	.		0.433	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	Intron
ZZEF1	23140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	3973982	3973982	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:3973982T>A	ENST00000381638.2	-	26	4195	c.4071A>T	c.(4069-4071)aaA>aaT	p.K1357N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1357							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTTACCATATTTTTGCAGCT	0.338																																					p.K1357N		.											.	ZZEF1-93	0			c.A4071T						.						67.0	65.0	66.0					17																	3973982		2203	4300	6503	SO:0001583	missense	23140	exon26			ACCATATTTTTGC	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4071A>T	17.37:g.3973982T>A	ENSP00000371051:p.Lys1357Asn	56	0		56	26	NM_015113	0	0	0	0	0	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744627	0.49151	.	.	ENSG00000074755	ENST00000381638	T	0.23147	1.92	5.96	3.65	0.41850	.	0.286977	0.39985	N	0.001209	T	0.23649	0.0572	L	0.54323	1.7	0.46981	D	0.999272	B	0.25007	0.116	B	0.21708	0.036	T	0.11567	-1.0582	10	0.72032	D	0.01	-17.3381	9.4782	0.38884	0.1065:0.0:0.2083:0.6852	.	1357	O43149	ZZEF1_HUMAN	N	1357	ENSP00000371051:K1357N	ENSP00000371051:K1357N	K	-	3	2	ZZEF1	3920731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.662000	0.46766	2.279000	0.76181	0.533000	0.62120	AAA	.		0.338	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
SPNS3	201305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	4351540	4351540	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:4351540G>T	ENST00000355530.2	+	6	992	c.712G>T	c.(712-714)Ggg>Tgg	p.G238W	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.G111W	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	238					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						ACAGGGGGAGGGGGCCGTGGG	0.637																																					p.G238W		.											.	SPNS3-153	0			c.G712T						.						35.0	33.0	34.0					17																	4351540		2203	4300	6503	SO:0001583	missense	201305	exon6			GGGGAGGGGGCCG		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.712G>T	17.37:g.4351540G>T	ENSP00000347721:p.Gly238Trp	65	0		98	42	NM_182538	0	0	0	0	0	Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	g	10.74	1.434761	0.25813	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.59906	0.23;0.23	4.75	-0.595	0.11660	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.306250	0.04498	N	0.380729	T	0.61714	0.2369	L	0.43152	1.355	0.09310	N	1	D;P	0.58620	0.983;0.886	P;P	0.58013	0.831;0.762	T	0.50432	-0.8829	10	0.66056	D	0.02	-0.2568	4.866	0.13609	0.4202:0.1493:0.4305:0.0	.	111;238	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	W	238;111	ENSP00000347721:G238W;ENSP00000333207:G111W	ENSP00000333207:G111W	G	+	1	0	SPNS3	4298289	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.107000	0.15375	-0.118000	0.11851	-0.969000	0.02612	GGG	.		0.637	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538	
MYBBP1A	10514	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	4453405	4453405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:4453405delC	ENST00000254718.4	-	9	1573	c.1267delG	c.(1267-1269)gttfs	p.V423fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.V423fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	423	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CTGAAGTCAACCAAGGAGTCC	0.567																																					p.V423fs		.											.	MYBBP1A-92	0			c.1267delG						.						83.0	92.0	89.0					17																	4453405		2203	4300	6503	SO:0001589	frameshift_variant	10514	exon9			AGTCAACCAAGGA	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1267delG	17.37:g.4453405delC	ENSP00000254718:p.Val423fs	215	0		163	41	NM_014520	0	0	0	0	0	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Frame_Shift_Del	DEL	ENST00000254718.4	37	CCDS11046.1																																																																																			.		0.567	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	
MYBBP1A	10514	hgsc.bcm.edu	37	17	4453405	4453406	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:4453405_4453406delCC	ENST00000254718.4	-	9	1572_1573	c.1266_1267delGG	c.(1264-1269)ttggttfs	p.LV422fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.LV422fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	422	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CTGAAGTCAACCAAGGAGTCCA	0.569																																					p.422_423del		.											.	MYBBP1A-92	0			c.1266_1267del						.																																			SO:0001589	frameshift_variant	10514	exon9			AGTCAACCAAGGA	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1266_1267delGG	17.37:g.4453405_4453406delCC	ENSP00000254718:p.Leu422fs	215	0		163	0	NM_014520	0	0	0	0	0	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Frame_Shift_Del	DEL	ENST00000254718.4	37	CCDS11046.1																																																																																			.		0.569	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	
MYBBP1A	10514	bcgsc.ca	37	17	4453406	4453406	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:4453406C>A	ENST00000254718.4	-	9	1572	c.1266G>T	c.(1264-1266)ttG>ttT	p.L422F	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L422F			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	422	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGAAGTCAACCAAGGAGTCCA	0.572																																					p.L422F		.											.	MYBBP1A-92	0			c.G1266T						.						82.0	91.0	88.0					17																	4453406		2203	4300	6503	SO:0001583	missense	10514	exon9			GTCAACCAAGGAG	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1266G>T	17.37:g.4453406C>A	ENSP00000254718:p.Leu422Phe	214	0		161	41	NM_014520	0	0	0	0	0	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490227	0.64074	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.52983	0.64;0.64	5.03	2.9	0.33743	Armadillo-type fold (1);	0.421348	0.23722	N	0.045208	T	0.55893	0.1949	L	0.60455	1.87	0.28080	N	0.932215	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.46938	-0.9155	10	0.14252	T	0.57	-16.501	7.07	0.25173	0.3252:0.4962:0.1787:0.0	.	422;422	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	F	422	ENSP00000370968:L422F;ENSP00000254718:L422F	ENSP00000254718:L422F	L	-	3	2	MYBBP1A	4400155	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	0.617000	0.24359	1.316000	0.45131	0.655000	0.94253	TTG	.		0.572	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	
KIF1C	10749	ucsc.edu;bcgsc.ca	37	17	4926821	4926821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:4926821C>A	ENST00000320785.5	+	23	3044	c.2687C>A	c.(2686-2688)tCa>tAa	p.S896*		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	896					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCTGAAGGATCAGAGGCAGCA	0.632																																					p.S896X	Melanoma(96;1023 1447 10250 19259 33730)	.											.	KIF1C-92	0			c.C2687A						.						35.0	36.0	36.0					17																	4926821		2203	4300	6503	SO:0001587	stop_gained	10749	exon23			AAGGATCAGAGGC	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2687C>A	17.37:g.4926821C>A	ENSP00000320821:p.Ser896*	123	2		230	51	NM_006612	0	0	0	0	0	D3DTL6|O75186|Q5U618	Nonsense_Mutation	SNP	ENST00000320785.5	37	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	40	8.159245	0.98683	.	.	ENSG00000129250	ENST00000320785	.	.	.	4.89	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	9.9836	0.41828	0.0:0.8925:0.0:0.1075	.	.	.	.	X	896	.	ENSP00000320821:S896X	S	+	2	0	KIF1C	4867545	0.004000	0.15560	0.120000	0.21714	0.798000	0.45092	1.951000	0.40333	2.536000	0.85505	0.563000	0.77884	TCA	.		0.632	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1		
NLRP1	22861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	5436275	5436275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:5436275C>A	ENST00000572272.1	-	11	3162	c.3163G>T	c.(3163-3165)Gaa>Taa	p.E1055*	NLRP1_ENST00000354411.3_Nonsense_Mutation_p.E1025*|NLRP1_ENST00000577119.1_Nonsense_Mutation_p.E1025*|NLRP1_ENST00000345221.3_Nonsense_Mutation_p.E1055*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.E1055*|NLRP1_ENST00000262467.5_Nonsense_Mutation_p.E1059*|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1055					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CACAAGAGTTCCACCGGTACT	0.617																																					p.E1059X		.											.	NLRP1-274	0			c.G3175T						.						88.0	77.0	81.0					17																	5436275		2203	4300	6503	SO:0001587	stop_gained	22861	exon11			AGAGTTCCACCGG	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3163G>T	17.37:g.5436275C>A	ENSP00000460475:p.Glu1055*	108	0		109	41	NM_001033053	0	0	0	0	0	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Nonsense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	41	8.573944	0.98868	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	.	.	.	3.53	-6.97	0.01616	.	1.831510	0.03373	N	0.199215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6279	0.22841	0.0:0.197:0.2421:0.561	.	.	.	.	X	1059;1059;1055;1025;1055;321	.	ENSP00000262467:E1059X	E	-	1	0	NLRP1	5376999	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.934000	0.01552	-1.637000	0.01531	0.555000	0.69702	GAA	.		0.617	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:7578413C>A	ENST00000269305.4	-	5	706	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000420246.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCCTCACAACCTCCGTC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.V173L	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	.	TP53-70225	159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	c.G517T	GRCh37	CM070299	TP53	M		.						51.0	51.0	51.0					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	GCCTCACAACCTC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.517G>T	17.37:g.7578413C>A	ENSP00000269305:p.Val173Leu	159	0		176	72	NM_000546	0	0	0	0	0	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743630	0.89663	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.987;0.996;1.0;0.979;0.989;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.922;0.957;0.999;0.916;0.953;0.998	D	0.96814	0.9599	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173L;ENSP00000352610:V173L;ENSP00000269305:V173L;ENSP00000398846:V173L;ENSP00000391127:V173L;ENSP00000391478:V173L;ENSP00000425104:V41L;ENSP00000423862:V80L	ENSP00000269305:V173L	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG	.		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:7578534C>G	ENST00000269305.4	-	5	585	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAAAACATCTTGTTGAGGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.K132N	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	.	TP53-70225	77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)	c.G396C						.						47.0	48.0	48.0					17																	7578534		2203	4300	6503	SO:0001583	missense	7157	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AAACATCTTGTTG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.396G>C	17.37:g.7578534C>G	ENSP00000269305:p.Lys132Asn	80	0		89	18	NM_000546	0	0	0	0	0	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123172	0.77436	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG	.		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
PER1	5187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	8053364	8053364	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:8053364C>G	ENST00000317276.4	-	4	691	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	PER1_ENST00000581082.1_Missense_Mutation_p.E152Q|PER1_ENST00000354903.5_Missense_Mutation_p.E136Q	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	152					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCCGGCGCTCTGGCGGCAGT	0.632			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																													p.E152Q		.		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	.	PER1-723	0			c.G454C						.						101.0	113.0	109.0					17																	8053364		2202	4300	6502	SO:0001583	missense	5187	exon4			GGCGCTCTGGCGG	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.454G>C	17.37:g.8053364C>G	ENSP00000314420:p.Glu152Gln	138	0		99	28	NM_002616	0	0	0	0	0	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845107	0.71603	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.44482	2.27;0.92	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	M	0.64404	1.975	0.54753	D	0.999985	D;D;B	0.71674	0.998;0.992;0.31	D;P;B	0.80764	0.994;0.828;0.175	T	0.64024	-0.6504	10	0.66056	D	0.02	-23.5997	15.6785	0.77349	0.0:1.0:0.0:0.0	.	152;136;152	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	Q	152;136	ENSP00000314420:E152Q;ENSP00000346979:E136Q	ENSP00000314420:E152Q	E	-	1	0	PER1	7994089	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.475000	0.81041	2.573000	0.86826	0.563000	0.77884	GAG	.		0.632	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2		
AURKB	9212	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	8110524	8110524	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:8110524C>T	ENST00000585124.1	-	5	461	c.368G>A	c.(367-369)cGc>cAc	p.R123H	AURKB_ENST00000535053.1_Missense_Mutation_p.R124H|AURKB_ENST00000534871.1_Missense_Mutation_p.R82H|AURKB_ENST00000316199.6_Missense_Mutation_p.R124H|AURKB_ENST00000578549.1_Intron	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R123H(1)		breast(1)|central_nervous_system(1)|lung(2)	4						GATCTCTCTGCGCAGCTGATG	0.582																																					p.R123H	NSCLC(134;1161 2470 43664 51568)	.											.	AURKB-1508	1	Substitution - Missense(1)	large_intestine(1)	c.G368A						.						64.0	61.0	62.0					17																	8110524		2203	4300	6503	SO:0001583	missense	9212	exon5			TCTCTGCGCAGCT	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.368G>A	17.37:g.8110524C>T	ENSP00000463999:p.Arg123His	75	0		93	24	NM_004217	0	0	0	0	0	B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385992	0.61956	.	.	ENSG00000178999	ENST00000316199;ENST00000534871;ENST00000535053	T;T	0.68479	-0.33;-0.33	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	L	0.35414	1.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67548	0.952;0.952	T	0.75915	-0.3149	10	0.87932	D	0	-18.3729	16.2584	0.82528	0.0:1.0:0.0:0.0	.	123;123	C7G533;Q96GD4	.;AURKB_HUMAN	H	123;82;124	ENSP00000443869:R82H;ENSP00000445866:R124H	ENSP00000313950:R123H	R	-	2	0	AURKB	8051249	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.486000	0.81215	2.711000	0.92665	0.655000	0.94253	CGC	.		0.582	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217	
PIK3R6	146850	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	8741937	8741937	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:8741937G>T	ENST00000311434.9	-	4	372	c.133C>A	c.(133-135)Cga>Aga	p.R45R	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	45					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCGGGATCTCGCTCGACCTTC	0.592																																					.		.											.	.	0			.						.						40.0	42.0	41.0					17																	8741937		1953	4116	6069	SO:0001819	synonymous_variant	146850	.			GATCTCGCTCGAC	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.133C>A	17.37:g.8741937G>T		76	0		75	29	.	0	0	0	0	0	Q658R3	Silent	SNP	ENST00000311434.9	37																																																																																				.		0.592	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855	
USP43	124739	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	9631601	9631601	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:9631601G>T	ENST00000285199.7	+	15	2762	c.2666G>T	c.(2665-2667)gGg>gTg	p.G889V	USP43_ENST00000570475.1_Missense_Mutation_p.G884V|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	889					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GGTCCAGCCGGGGTGCCCTGT	0.592																																					p.G889V		.											.	USP43-637	0			c.G2666T						.						25.0	28.0	27.0					17																	9631601		1983	4148	6131	SO:0001583	missense	124739	exon15			CAGCCGGGGTGCC	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2666G>T	17.37:g.9631601G>T	ENSP00000285199:p.Gly889Val	252	0		266	112	NM_153210	0	0	0	0	0	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411415	0.25465	.	.	ENSG00000154914	ENST00000285199	T	0.10763	2.84	5.28	-10.6	0.00265	.	48.024300	0.00166	N	0.000000	T	0.07638	0.0192	L	0.47716	1.5	0.09310	N	0.999999	B;P;B;B	0.34724	0.183;0.465;0.183;0.279	B;B;B;B	0.31101	0.026;0.124;0.026;0.058	T	0.09015	-1.0694	10	0.17369	T	0.5	2.8807	8.4635	0.32942	0.2042:0.5947:0.1158:0.0854	.	884;578;889;401	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	V	889	ENSP00000285199:G889V	ENSP00000285199:G889V	G	+	2	0	USP43	9572326	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.193000	0.09573	-1.797000	0.01252	-0.878000	0.02970	GGG	.		0.592	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210	
GLP2R	9340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	9792935	9792935	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:9792935C>A	ENST00000262441.5	+	13	2088	c.1575C>A	c.(1573-1575)ccC>ccA	p.P525P	GLP2R_ENST00000574745.1_Silent_p.P345P	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	525					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CACGCTGGCCCCGGGGCAGCA	0.622																																					p.P525P		.											.	GLP2R-524	0			c.C1575A						.						27.0	25.0	26.0					17																	9792935		2203	4300	6503	SO:0001819	synonymous_variant	9340	exon13			CTGGCCCCGGGGC	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1575C>A	17.37:g.9792935C>A		89	0		101	42	NM_004246	0	0	0	0	0	Q4VAT3	Silent	SNP	ENST00000262441.5	37	CCDS11150.1																																																																																			.		0.622	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		
MYH13	8735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	10227550	10227550	+	Missense_Mutation	SNP	C	C	A	rs572952027		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10227550C>A	ENST00000418404.3	-	22	2886	c.2723G>T	c.(2722-2724)cGg>cTg	p.R908L	MYH13_ENST00000252172.4_Missense_Mutation_p.R908L|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	908					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTTCACACCGTTCCTCAGC	0.423																																					p.R908L		.											.	MYH13-6	0			c.G2723T						.						130.0	121.0	124.0					17																	10227550		1966	4160	6126	SO:0001583	missense	8735	exon23			TCACACCGTTCCT	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2723G>T	17.37:g.10227550C>A	ENSP00000404570:p.Arg908Leu	74	0		93	21	NM_003802	0	0	0	0	0	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798241	0.90538	.	.	ENSG00000006788	ENST00000252172	D	0.94330	-3.4	4.37	4.37	0.52481	.	.	.	.	.	D	0.97269	0.9107	M	0.91406	3.205	0.46185	D	0.998912	D	0.76494	0.999	D	0.74674	0.984	D	0.98012	1.0366	9	0.62326	D	0.03	.	17.4708	0.87646	0.0:1.0:0.0:0.0	.	908	Q9UKX3	MYH13_HUMAN	L	908	ENSP00000252172:R908L	ENSP00000252172:R908L	R	-	2	0	MYH13	10168275	1.000000	0.71417	0.252000	0.24328	0.975000	0.68041	7.522000	0.81844	2.407000	0.81776	0.655000	0.94253	CGG	.		0.423	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	10293878	10293878	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10293878G>T	ENST00000403437.2	-	40	5801	c.5707C>A	c.(5707-5709)Cag>Aag	p.Q1903K	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1903					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCTCATGCTGGAGTTTGCGG	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.Q1903K		.											.	MYH8-101	0			c.C5707A						.						105.0	110.0	108.0					17																	10293878		2203	4300	6503	SO:0001583	missense	4626	exon40	Familial Cancer Database	Carney Complex Variant	CATGCTGGAGTTT		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5707C>A	17.37:g.10293878G>T	ENSP00000384330:p.Gln1903Lys	81	0		66	13	NM_002472	0	0	0	0	0	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026345	0.75390	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81659	-1.52	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.39687	U	0.001293	D	0.91848	0.7420	H	0.94964	3.605	0.58432	D	0.999998	D	0.56287	0.975	P	0.59546	0.859	D	0.93863	0.7155	10	0.87932	D	0	.	18.8299	0.92133	0.0:0.0:1.0:0.0	.	1903	P13535	MYH8_HUMAN	K	1903	ENSP00000384330:Q1903K	ENSP00000252173:Q1903K	Q	-	1	0	MYH8	10234603	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	9.598000	0.98277	2.677000	0.91161	0.650000	0.86243	CAG	.		0.448	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	10303798	10303798	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10303798C>A	ENST00000403437.2	-	27	3738	c.3644G>T	c.(3643-3645)cGg>cTg	p.R1215L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1215					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGTTTGACCCGCTGCAAGTT	0.537									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.R1215L		.											.	MYH8-101	0			c.G3644T						.						126.0	112.0	117.0					17																	10303798		2203	4300	6503	SO:0001583	missense	4626	exon27	Familial Cancer Database	Carney Complex Variant	TTGACCCGCTGCA		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3644G>T	17.37:g.10303798C>A	ENSP00000384330:p.Arg1215Leu	46	0		55	24	NM_002472	0	0	0	0	0	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813855	0.90790	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.80566	-1.39	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.40302	U	0.001128	D	0.93090	0.7800	H	0.95645	3.7	0.58432	D	0.999992	D	0.89917	1.0	D	0.80764	0.994	D	0.94594	0.7790	10	0.87932	D	0	.	19.253	0.93933	0.0:1.0:0.0:0.0	.	1215	P13535	MYH8_HUMAN	L	1215	ENSP00000384330:R1215L	ENSP00000252173:R1215L	R	-	2	0	MYH8	10244523	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.443000	0.80521	2.785000	0.95823	0.655000	0.94253	CGG	.		0.537	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH8	4626	bcgsc.ca	37	17	10304060	10304060	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10304060C>A	ENST00000403437.2	-	27	3476	c.3382G>T	c.(3382-3384)Gag>Tag	p.E1128*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1128					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACGCCCTCTCTGCCTCGATT	0.552									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.E1128X		.											.	MYH8-101	0			c.G3382T						.						44.0	49.0	47.0					17																	10304060		2202	4300	6502	SO:0001587	stop_gained	4626	exon27	Familial Cancer Database	Carney Complex Variant	CCCTCTCTGCCTC		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3382G>T	17.37:g.10304060C>A	ENSP00000384330:p.Glu1128*	33	1		30	17	NM_002472	0	0	0	0	0	Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	40	8.531651	0.98852	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.38	5.38	0.77491	.	0.000000	0.41938	U	0.000786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3244	0.94256	0.0:1.0:0.0:0.0	.	.	.	.	X	1128	.	ENSP00000252173:E1128X	E	-	1	0	MYH8	10244785	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.531000	0.81973	2.794000	0.96219	0.655000	0.94253	GAG	.		0.552	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH4	4622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	10353829	10353829	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10353829C>A	ENST00000255381.2	-	30	4232	c.4122G>T	c.(4120-4122)caG>caT	p.Q1374H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1374					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTCCTCCACTGGGCAACCT	0.567																																					p.Q1374H		.											.	MYH4-102	0			c.G4122T						.						183.0	158.0	167.0					17																	10353829		2203	4300	6503	SO:0001583	missense	4622	exon30			CCTCCACTGGGCA		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4122G>T	17.37:g.10353829C>A	ENSP00000255381:p.Gln1374His	115	0		131	20	NM_017533	0	0	0	0	0		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189271	0.78789	.	.	ENSG00000141048	ENST00000255381	T	0.80123	-1.34	5.67	2.58	0.30949	Myosin tail (1);	0.000000	0.35585	U	0.003106	D	0.89146	0.6632	M	0.85373	2.75	0.46927	D	0.999251	D	0.76494	0.999	D	0.76071	0.987	D	0.89864	0.4018	10	0.72032	D	0.01	.	12.038	0.53435	0.0:0.803:0.0:0.197	.	1374	Q9Y623	MYH4_HUMAN	H	1374	ENSP00000255381:Q1374H	ENSP00000255381:Q1374H	Q	-	3	2	MYH4	10294554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.150000	0.42254	0.883000	0.36040	0.650000	0.86243	CAG	.		0.567	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH4	4622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	10356511	10356511	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10356511G>T	ENST00000255381.2	-	24	3179	c.3069C>A	c.(3067-3069)acC>acA	p.T1023T	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1023					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTTGGTCAGGGTGTTGACTT	0.458																																					p.T1023T		.											.	MYH4-102	0			c.C3069A						.						337.0	301.0	313.0					17																	10356511		2203	4300	6503	SO:0001819	synonymous_variant	4622	exon24			GGTCAGGGTGTTG		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3069C>A	17.37:g.10356511G>T		224	0		162	75	NM_017533	0	0	0	0	0		Silent	SNP	ENST00000255381.2	37	CCDS11154.1																																																																																			.		0.458	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH4	4622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	10357111	10357111	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10357111T>C	ENST00000255381.2	-	23	2893	c.2783A>G	c.(2782-2784)gAa>gGa	p.E928G	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	928					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCAGCTCTTTCAGTTACCTC	0.433																																					p.E928G		.											.	MYH4-102	0			c.A2783G						.						360.0	332.0	341.0					17																	10357111		2203	4300	6503	SO:0001583	missense	4622	exon23			GCTCTTTCAGTTA		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2783A>G	17.37:g.10357111T>C	ENSP00000255381:p.Glu928Gly	258	0		193	39	NM_017533	0	0	0	0	0		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269062	0.59540	.	.	ENSG00000141048	ENST00000255381	D	0.95137	-3.62	5.19	5.19	0.71726	.	0.000000	0.38058	U	0.001824	D	0.97632	0.9224	M	0.93808	3.46	0.80722	D	1	D	0.69078	0.997	P	0.62382	0.901	D	0.98727	1.0711	10	0.87932	D	0	.	15.339	0.74282	0.0:0.0:0.0:1.0	.	928	Q9Y623	MYH4_HUMAN	G	928	ENSP00000255381:E928G	ENSP00000255381:E928G	E	-	2	0	MYH4	10297836	1.000000	0.71417	0.959000	0.39883	0.269000	0.26545	7.908000	0.87438	2.089000	0.63090	0.533000	0.62120	GAA	.		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH4	4622	ucsc.edu;bcgsc.ca	37	17	10363404	10363404	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10363404C>G	ENST00000255381.2	-	14	1391	c.1281G>C	c.(1279-1281)gtG>gtC	p.V427V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	427	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCAGAGCACCCACTGCATTGT	0.458																																					p.V427V		.											.	MYH4-102	0			c.G1281C						.						192.0	176.0	181.0					17																	10363404		2203	4300	6503	SO:0001819	synonymous_variant	4622	exon14			AGCACCCACTGCA		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1281G>C	17.37:g.10363404C>G		217	3		178	79	NM_017533	0	0	0	0	0		Silent	SNP	ENST00000255381.2	37	CCDS11154.1																																																																																			.		0.458	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH1	4619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	10402002	10402002	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10402002C>T	ENST00000226207.5	-	30	4216	c.4122G>A	c.(4120-4122)caG>caA	p.Q1374Q	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1374					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTCCTCCACTGGGCAACCT	0.522																																					p.Q1374Q		.											.	MYH1-171	0			c.G4122A						.						165.0	143.0	151.0					17																	10402002		2203	4300	6503	SO:0001819	synonymous_variant	4619	exon30			CCTCCACTGGGCA		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4122G>A	17.37:g.10402002C>T		88	0		102	37	NM_005963	0	0	0	0	0	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																			.		0.522	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH1	4619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	10408289	10408289	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10408289G>T	ENST00000226207.5	-	22	2623	c.2529C>A	c.(2527-2529)ctC>ctA	p.L843L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	843					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACTTTTGAGGAGGGGTTTGA	0.463																																					p.L843L		.											.	MYH1-171	0			c.C2529A						.						131.0	122.0	125.0					17																	10408289		2203	4300	6503	SO:0001819	synonymous_variant	4619	exon22			TTTGAGGAGGGGT		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2529C>A	17.37:g.10408289G>T		63	0		83	28	NM_005963	0	0	0	0	0	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																			.		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH2	4620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	10428845	10428845	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10428845A>T	ENST00000245503.5	-	32	4844	c.4460T>A	c.(4459-4461)cTg>cAg	p.L1487Q	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.L1487Q|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1487					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						TATCTTGAACAGCTCAGTGCC	0.453																																					p.L1487Q		.											.	MYH2-194	0			c.T4460A						.						75.0	79.0	78.0					17																	10428845		2203	4300	6503	SO:0001583	missense	4620	exon32			TTGAACAGCTCAG		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.4460T>A	17.37:g.10428845A>T	ENSP00000245503:p.Leu1487Gln	62	0		57	10	NM_017534	0	0	0	0	0	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.487935	0.84854	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85339	-1.97;-1.97	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.32314	U	0.006279	D	0.94735	0.8301	H	0.96398	3.815	0.53688	D	0.99997	P	0.47302	0.893	D	0.67103	0.949	D	0.96155	0.9111	10	0.87932	D	0	.	15.2299	0.73378	1.0:0.0:0.0:0.0	.	1487	Q9UKX2	MYH2_HUMAN	Q	1487	ENSP00000245503:L1487Q;ENSP00000380367:L1487Q	ENSP00000245503:L1487Q	L	-	2	0	MYH2	10369570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.113000	0.94321	2.190000	0.69967	0.482000	0.46254	CTG	.		0.453	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH3	4621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	10535908	10535908	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:10535908C>A	ENST00000583535.1	-	34	4928	c.4841G>T	c.(4840-4842)cGg>cTg	p.R1614L	MYH3_ENST00000226209.7_Missense_Mutation_p.R1614L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1614					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTCTTGAGCCGGATGGCTTC	0.582																																					p.R1614L		.											.	MYH3-95	0			c.G4841T						.						228.0	224.0	225.0					17																	10535908		2203	4300	6503	SO:0001583	missense	4621	exon34			TTGAGCCGGATGG		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4841G>T	17.37:g.10535908C>A	ENSP00000464317:p.Arg1614Leu	64	0		60	27	NM_002470	0	0	0	0	0	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	35	5.542818	0.96474	.	.	ENSG00000109063	ENST00000226209	D	0.83755	-1.76	5.77	5.77	0.91146	Myosin tail (1);	.	.	.	.	D	0.92071	0.7487	M	0.83852	2.665	0.47621	D	0.999472	P	0.44877	0.845	D	0.63033	0.91	D	0.91892	0.5524	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	1614	P11055	MYH3_HUMAN	L	1614	ENSP00000226209:R1614L	ENSP00000226209:R1614L	R	-	2	0	MYH3	10476633	0.499000	0.26083	0.976000	0.42696	0.935000	0.57460	4.950000	0.63603	2.885000	0.99019	0.655000	0.94253	CGG	.		0.582	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
SHISA6	388336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	11461111	11461111	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:11461111C>T	ENST00000409168.3	+	4	993	c.993C>T	c.(991-993)caC>caT	p.H331H	SHISA6_ENST00000441885.3_Silent_p.H382H|SHISA6_ENST00000432116.3_Silent_p.H363H	NM_001173461.1	NP_001166932.1	Q6ZSJ9	SHSA6_HUMAN	shisa family member 6	331						alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)				breast(1)|endometrium(4)	5						GACGGCGGCACCTGCCCGACC	0.647																																					p.H382H		.											.	SHISA6-67	0			c.C1146T						.						16.0	19.0	18.0					17																	11461111		692	1591	2283	SO:0001819	synonymous_variant	388336	exon6			GCGGCACCTGCCC	AK127379, AK128003	CCDS45615.1, CCDS54089.1, CCDS54090.1	17p13.1-p12	2013-07-31	2013-07-31		ENSG00000188803	ENSG00000188803		"""Shisa homologs"""	34491	protein-coding gene	gene with protein product			"""shisa homolog 6 (Xenopus laevis)"""				Standard	NM_207386		Approved	FLJ45455	uc002gnc.2	Q6ZSJ9	OTTHUMG00000154121	ENST00000409168.3:c.993C>T	17.37:g.11461111C>T		101	0		99	30	NM_207386	0	0	0	0	0	B3KXV5|Q4PL63	Silent	SNP	ENST00000409168.3	37	CCDS54090.1																																																																																			.		0.647	SHISA6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000333970.2	NM_207386	
DNAH9	1770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	11592948	11592948	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:11592948C>A	ENST00000262442.4	+	20	3877	c.3809C>A	c.(3808-3810)tCc>tAc	p.S1270Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1270Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1270	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S1270*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGATGGAATCCACTATGGCC	0.488																																					p.S1270Y		.											.	DNAH9-168	1	Substitution - Nonsense(1)	lung(1)	c.C3809A						.						123.0	114.0	117.0					17																	11592948		2203	4300	6503	SO:0001583	missense	1770	exon20			TGGAATCCACTAT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3809C>A	17.37:g.11592948C>A	ENSP00000262442:p.Ser1270Tyr	110	0		82	31	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847795	0.51164	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.23754	1.89;1.89	5.6	4.64	0.57946	.	0.845877	0.09908	N	0.740133	T	0.35624	0.0938	M	0.68952	2.095	0.47659	D	0.999488	P	0.47106	0.89	P	0.45753	0.492	T	0.10590	-1.0623	10	0.66056	D	0.02	.	11.0738	0.48019	0.0:0.8051:0.0:0.1949	.	1270	Q9NYC9	DYH9_HUMAN	Y	1270	ENSP00000262442:S1270Y;ENSP00000414874:S1270Y	ENSP00000262442:S1270Y	S	+	2	0	DNAH9	11533673	0.797000	0.28877	0.999000	0.59377	0.955000	0.61496	1.575000	0.36493	1.379000	0.46325	0.563000	0.77884	TCC	.		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	11725237	11725237	+	Splice_Site	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:11725237G>C	ENST00000262442.4	+	46	8776	c.8708G>C	c.(8707-8709)gGg>gCg	p.G2903A	DNAH9_ENST00000454412.2_Splice_Site_p.G2903A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2903	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTTTCCCAGGGGAGATCCCA	0.453																																					p.G2903A		.											.	DNAH9-168	0			c.G8708C						.						75.0	69.0	71.0					17																	11725237		2203	4300	6503	SO:0001630	splice_region_variant	1770	exon46			TCCCAGGGGAGAT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8708-1G>C	17.37:g.11725237G>C		61	0		75	21	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843198	0.51057	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.59638	0.25;0.25	4.36	3.38	0.38709	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.140397	0.47852	D	0.000208	T	0.80048	0.4552	M	0.94063	3.49	0.80722	D	1	B	0.33964	0.434	P	0.53954	0.738	T	0.81529	-0.0891	9	.	.	.	.	14.2435	0.65973	0.0:0.1505:0.8495:0.0	.	2903	Q9NYC9	DYH9_HUMAN	A	2903;2903;1485	ENSP00000262442:G2903A;ENSP00000414874:G2903A	.	G	+	2	0	DNAH9	11665962	1.000000	0.71417	0.993000	0.49108	0.281000	0.26958	6.483000	0.73617	0.827000	0.34685	-0.481000	0.04817	GGG	.		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation
DNAH9	1770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	11738038	11738038	+	Silent	SNP	C	C	A	rs532161159	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:11738038C>A	ENST00000262442.4	+	49	9398	c.9330C>A	c.(9328-9330)gtC>gtA	p.V3110V	DNAH9_ENST00000454412.2_Silent_p.V3110V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3110	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATTCAGGTCGTGGGTGTGG	0.498																																					p.V3110V		.											.	DNAH9-168	0			c.C9330A						.						115.0	90.0	99.0					17																	11738038		2203	4300	6503	SO:0001819	synonymous_variant	1770	exon49			TCAGGTCGTGGGT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9330C>A	17.37:g.11738038C>A		233	0		267	46	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			.		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	11772530	11772530	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:11772530C>A	ENST00000262442.4	+	51	10081	c.10013C>A	c.(10012-10014)gCc>gAc	p.A3338D	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3338D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3338	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGCAAGAAGCCGAAGTGACC	0.488																																					p.A3338D		.											.	DNAH9-168	0			c.C10013A						.						109.0	97.0	101.0					17																	11772530		2203	4300	6503	SO:0001583	missense	1770	exon51			AAGAAGCCGAAGT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10013C>A	17.37:g.11772530C>A	ENSP00000262442:p.Ala3338Asp	50	0		36	4	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061459	0.76187	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80653	-1.4;-1.4	4.54	4.54	0.55810	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.93462	0.7914	H	0.97707	4.06	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.95792	0.8825	10	0.87932	D	0	.	17.8373	0.88701	0.0:1.0:0.0:0.0	.	3338	Q9NYC9	DYH9_HUMAN	D	3338;3338;1920	ENSP00000262442:A3338D;ENSP00000414874:A3338D	ENSP00000262442:A3338D	A	+	2	0	DNAH9	11713255	1.000000	0.71417	0.977000	0.42913	0.707000	0.40811	5.532000	0.67154	2.510000	0.84645	0.643000	0.83706	GCC	.		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
MYOCD	93649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	12656026	12656026	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:12656026C>A	ENST00000343344.4	+	10	1421	c.1421C>A	c.(1420-1422)aCc>aAc	p.T474N	AC005358.1_ENST00000609971.1_Missense_Mutation_p.T378N|MYOCD_ENST00000425538.1_Missense_Mutation_p.T474N|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	474	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTGCCGGACACCTTCAATGAT	0.637																																					p.T474N		.											.	MYOCD-93	0			c.C1421A						.						70.0	66.0	68.0					17																	12656026		2203	4300	6503	SO:0001583	missense	93649	exon10			CGGACACCTTCAA	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1421C>A	17.37:g.12656026C>A	ENSP00000341835:p.Thr474Asn	113	0		137	30	NM_001146312	0	0	0	0	0	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596796	0.46318	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.50277	0.79;0.75	5.66	5.66	0.87406	.	0.142330	0.64402	D	0.000005	T	0.63283	0.2498	M	0.79693	2.465	0.50039	D	0.999844	B;P;B;B	0.47034	0.258;0.889;0.374;0.258	B;P;B;B	0.52646	0.127;0.705;0.359;0.196	T	0.66344	-0.5947	10	0.54805	T	0.06	-10.5553	14.7572	0.69576	0.0:0.8546:0.1454:0.0	.	193;378;474;474	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	N	193;474;474;378;179	ENSP00000341835:T474N;ENSP00000400148:T179N	ENSP00000341835:T474N	T	+	2	0	MYOCD	12596751	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	4.229000	0.58625	2.672000	0.90937	0.591000	0.81541	ACC	.		0.637	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
HS3ST3A1	9955	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	13504387	13504387	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:13504387G>T	ENST00000284110.1	-	1	857	c.60C>A	c.(58-60)agC>agA	p.S20R		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	20					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)		TCCGGAAGATGCTGCGGGACA	0.692																																					p.S20R		.											.	HS3ST3A1-515	0			c.C60A						.						39.0	35.0	37.0					17																	13504387		2197	4299	6496	SO:0001583	missense	9955	exon1			GAAGATGCTGCGG	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.60C>A	17.37:g.13504387G>T	ENSP00000284110:p.Ser20Arg	94	0		166	42	NM_006042	0	0	0	0	0	A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288228	0.40494	.	.	ENSG00000153976	ENST00000284110	T	0.46063	0.88	2.79	1.78	0.24846	.	0.524120	0.15313	U	0.268996	T	0.23572	0.0570	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13072	-1.0523	10	0.02654	T	1	.	9.7302	0.40357	0.1148:0.0:0.8852:0.0	.	20	Q9Y663	HS3SA_HUMAN	R	20	ENSP00000284110:S20R	ENSP00000284110:S20R	S	-	3	2	HS3ST3A1	13445112	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.137000	0.64789	0.693000	0.31634	0.563000	0.77884	AGC	.		0.692	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042	
TBC1D26	353149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	15638662	15638662	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:15638662G>A	ENST00000437605.2	+	0	250				TBC1D26_ENST00000579428.1_De_novo_Start_InFrame|AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000413242.2_Intron|ZNF286A_ENST00000593105.1_3'UTR	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26								Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		TGTCTTGCAGGATGGAGATGG	0.552																																					.		.											.	TBC1D26-90	0			.						.						138.0	143.0	141.0					17																	15638662		1999	4166	6165			353149	.			TTGCAGGATGGAG		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071		17.37:g.15638662G>A		264	0		258	63	.	0	0	0	0	0	A8K929|Q4G172	Splice_Site	SNP	ENST00000437605.2	37	CCDS42265.1																																																																																			.		0.552	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571	
PEMT	10400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	17415964	17415964	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:17415964T>C	ENST00000395783.1	-	4	393	c.214A>G	c.(214-216)Acg>Gcg	p.T72A	PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000395781.2_Missense_Mutation_p.T109A|PEMT_ENST00000255389.5_Missense_Mutation_p.T109A|PEMT_ENST00000395782.1_Missense_Mutation_p.T72A|PEMT_ENST00000435340.2_Missense_Mutation_p.T87A	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	72					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		ATGGCCTGCGTGAAGCTGTGG	0.692																																					p.T109A		.											.	PEMT-90	0			c.A325G						.						24.0	26.0	26.0					17																	17415964		2201	4300	6501	SO:0001583	missense	10400	exon4			CCTGCGTGAAGCT	AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.214A>G	17.37:g.17415964T>C	ENSP00000379129:p.Thr72Ala	113	0		179	73	NM_001267552	0	0	0	0	0	A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Missense_Mutation	SNP	ENST00000395783.1	37	CCDS11187.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429616	0.25726	.	.	ENSG00000133027	ENST00000255389;ENST00000395783;ENST00000395782;ENST00000435340;ENST00000395781;ENST00000421096	T;T;T;T;T	0.23348	2.54;2.57;2.57;1.92;1.91	5.09	5.09	0.68999	.	0.049732	0.85682	D	0.000000	T	0.24812	0.0602	M	0.65498	2.005	0.44771	D	0.99777	B;P;B	0.34909	0.185;0.475;0.206	B;B;B	0.33339	0.093;0.162;0.043	T	0.03957	-1.0989	10	0.12430	T	0.62	-26.8635	11.2441	0.48987	0.0:0.0:0.0:1.0	.	109;109;72	A8MZ66;Q9UBM1-2;Q9UBM1	.;.;PEMT_HUMAN	A	109;72;72;87;109;109	ENSP00000255389:T109A;ENSP00000379129:T72A;ENSP00000379128:T72A;ENSP00000391288:T87A;ENSP00000379127:T109A	ENSP00000255389:T109A	T	-	1	0	PEMT	17356689	1.000000	0.71417	0.980000	0.43619	0.057000	0.15508	6.224000	0.72265	1.914000	0.55421	0.460000	0.39030	ACG	.		0.692	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131657.1	NM_007169	
RAI1	10743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	17701546	17701546	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:17701546G>C	ENST00000353383.1	+	3	5753	c.5284G>C	c.(5284-5286)Gac>Cac	p.D1762H	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1762					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CGGCCCAGCTGACCCGGCCAA	0.701																																					p.D1762H		.											.	RAI1-91	0			c.G5284C						.						11.0	14.0	13.0					17																	17701546		2189	4286	6475	SO:0001583	missense	10743	exon3			CCAGCTGACCCGG	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5284G>C	17.37:g.17701546G>C	ENSP00000323074:p.Asp1762His	14	0		70	13	NM_030665	0	0	0	0	0	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823479	0.50739	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.67698	-0.28	4.56	4.56	0.56223	.	0.076438	0.53938	D	0.000051	T	0.72763	0.3501	L	0.40543	1.245	0.80722	D	1	D	0.67145	0.996	P	0.58820	0.846	T	0.76621	-0.2892	10	0.72032	D	0.01	.	17.5171	0.87777	0.0:0.0:1.0:0.0	.	1762	Q7Z5J4	RAI1_HUMAN	H	1762;1762;1650	ENSP00000323074:D1762H	ENSP00000322928:D1650H	D	+	1	0	RAI1	17642271	0.993000	0.37304	0.948000	0.38648	0.805000	0.45488	5.072000	0.64389	2.387000	0.81309	0.561000	0.74099	GAC	.		0.701	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	
FLII	2314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	18148680	18148680	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:18148680C>G	ENST00000327031.4	-	29	3888	c.3663G>C	c.(3661-3663)ctG>ctC	p.L1221L	FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Silent_p.L1135L|FLII_ENST00000579294.1_Silent_p.L1210L|FLII_ENST00000545457.2_Silent_p.L1166L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1221					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GGCAGGCCTTCAGGCTCAGCT	0.627																																					p.L1221L		.											.	FLII-91	0			c.G3663C						.						86.0	87.0	87.0					17																	18148680		2203	4300	6503	SO:0001819	synonymous_variant	2314	exon29			GGCCTTCAGGCTC	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3663G>C	17.37:g.18148680C>G		150	0		127	57	NM_002018	0	0	0	0	0	B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	CCDS11192.1																																																																																			.		0.627	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018	
SPECC1	92521	broad.mit.edu;bcgsc.ca	37	17	20224817	20224817	+	IGR	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:20224817A>G	ENST00000395530.2	+	0	8133				U6_ENST00000517027.1_RNA|AC004702.2_ENST00000580225.1_lincRNA|CCDC144CP_ENST00000340196.4_RNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGCGAGAGCAAGCACGGTGAG	0.657																																					.		.											.	.	0			.						.																																			SO:0001628	intergenic_variant	348254	.			AGAGCAAGCACGG	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224817A>G		266	0		299	35	.	0	0	0	0	0	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37	CCDS42281.1	.	.	.	.	.	.	.	.	.	.	.	3.454	-0.111487	0.06881	.	.	ENSG00000154898	ENST00000340196;ENST00000425519	.	.	.	0.364	0.364	0.16124	.	.	.	.	.	T	0.51719	0.1691	.	.	.	0.20489	N	0.999895	.	.	.	.	.	.	T	0.60835	-0.7184	3	0.52906	T	0.07	.	.	.	.	.	.	.	.	R	63	.	ENSP00000343605:K63R	K	+	2	0	CCDC144C	20165409	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.210000	0.17455	0.344000	0.23847	0.334000	0.21626	AAG	.		0.657	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904	
MAP2K3	5606	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	21201734	21201734	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21201734A>G	ENST00000342679.4	+	2	308	c.59A>G	c.(58-60)aAg>aGg	p.K20R	MAP2K3_ENST00000361818.5_5'UTR|MAP2K3_ENST00000316920.6_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	20					activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GGAAAATCCAAGAGGAAGAAG	0.572																																					p.K20R		.											.	MAP2K3-790	0			c.A59G						.						230.0	227.0	228.0					17																	21201734		2203	4300	6503	SO:0001583	missense	5606	exon2			AATCCAAGAGGAA	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.59A>G	17.37:g.21201734A>G	ENSP00000345083:p.Lys20Arg	225	0		190	28	NM_145109	0	0	0	0	0	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.095795	0.36952	.	.	ENSG00000034152	ENST00000342679;ENST00000316920	T	0.72505	-0.66	5.43	1.96	0.26148	.	0.220163	0.35291	N	0.003302	T	0.43233	0.1238	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10222	-1.0639	10	0.11182	T	0.66	-30.3261	8.0023	0.30304	0.6714:0.0:0.3286:0.0	.	20	P46734	MP2K3_HUMAN	R	20;24	ENSP00000345083:K20R	ENSP00000319139:K24R	K	+	2	0	MAP2K3	21142327	0.492000	0.26027	0.998000	0.56505	0.993000	0.82548	0.380000	0.20602	0.111000	0.17947	0.533000	0.62120	AAG	.		0.572	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	
KCNJ12	3768	hgsc.bcm.edu;broad.mit.edu	37	17	21318888	21318888	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21318888delC	ENST00000583088.1	+	3	1129	c.234delC	c.(232-234)atcfs	p.I78fs	KCNJ12_ENST00000331718.5_Frame_Shift_Del_p.I78fs	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	78					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GTGTGGACATCCGCTGGCGGT	0.572										Prostate(3;0.18)																											p.I78fs		.											.	.	0			c.234delC						.						214.0	132.0	160.0					17																	21318888		2203	4300	6503	SO:0001589	frameshift_variant	100134444	exon3			GGACATCCGCTGG	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.234delC	17.37:g.21318888delC	ENSP00000463778:p.Ile78fs	379	0		484	35	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Frame_Shift_Del	DEL	ENST00000583088.1	37	CCDS11219.1																																																																																			.		0.572	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
KCNJ12	3768	broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	21319147	21319147	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21319147C>G	ENST00000583088.1	+	3	1388	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.Q165E	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	165					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGTGGTGGCCCAGTCCATCGT	0.622										Prostate(3;0.18)																											p.Q165E		.											.	.	0			c.C493G						.						79.0	74.0	76.0					17																	21319147		2203	4299	6502	SO:0001583	missense	100134444	exon3			GTGGCCCAGTCCA	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.493C>G	17.37:g.21319147C>G	ENSP00000463778:p.Gln165Glu	206	1		267	42	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314587	0.81358	.	.	ENSG00000184185	ENST00000331718	D	0.96104	-3.91	5.32	5.32	0.75619	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.97876	0.9302	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98628	1.0670	10	0.87932	D	0	.	18.9979	0.92821	0.0:1.0:0.0:0.0	.	165	Q14500	IRK12_HUMAN	E	165	ENSP00000328150:Q165E	ENSP00000328150:Q165E	Q	+	1	0	KCNJ12	21259740	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	7.680000	0.84062	2.496000	0.84212	0.655000	0.94253	CAG	.		0.622	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
KCNJ12	3768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	21319212	21319212	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21319212G>C	ENST00000583088.1	+	3	1453	c.558G>C	c.(556-558)agG>agC	p.R186S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R186S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	186					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	AGATGGCAAGGCCCAAGAAGC	0.622										Prostate(3;0.18)																											p.R186S		.											.	.	0			c.G558C						.						85.0	78.0	81.0					17																	21319212		2203	4300	6503	SO:0001583	missense	100134444	exon3			GGCAAGGCCCAAG	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.558G>C	17.37:g.21319212G>C	ENSP00000463778:p.Arg186Ser	240	0		320	23	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474349	0.63737	.	.	ENSG00000184185	ENST00000331718	D	0.93763	-3.28	5.32	2.16	0.27623	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.94873	0.8343	M	0.83384	2.64	0.53688	D	0.99997	D	0.63046	0.992	P	0.58928	0.848	D	0.93759	0.7065	10	0.87932	D	0	.	6.4894	0.22107	0.1973:0.1395:0.6632:0.0	.	186	Q14500	IRK12_HUMAN	S	186	ENSP00000328150:R186S	ENSP00000328150:R186S	R	+	3	2	KCNJ12	21259805	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	3.171000	0.50824	1.207000	0.43291	0.655000	0.94253	AGG	.		0.622	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
KCNJ12	3768	bcgsc.ca	37	17	21319596	21319596	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21319596C>A	ENST00000583088.1	+	3	1837	c.942C>A	c.(940-942)agC>agA	p.S314R	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S314R	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	314					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	AGGCCCGCAGCTCCTACCTGG	0.587										Prostate(3;0.18)																											p.S314R		.											.	.	0			c.C942A						.						113.0	114.0	113.0					17																	21319596		2203	4300	6503	SO:0001583	missense	100134444	exon3			CCGCAGCTCCTAC	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.942C>A	17.37:g.21319596C>A	ENSP00000463778:p.Ser314Arg	389	2		414	38	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267988	0.59540	.	.	ENSG00000184185	ENST00000331718	D	0.94862	-3.54	5.44	1.87	0.25490	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	M	0.90198	3.095	0.51482	D	0.999922	D	0.89917	1.0	D	0.97110	1.0	D	0.96917	0.9671	10	0.87932	D	0	.	11.3272	0.49456	0.0:0.7622:0.0:0.2378	.	314	Q14500	IRK12_HUMAN	R	314	ENSP00000328150:S314R	ENSP00000328150:S314R	S	+	3	2	KCNJ12	21260189	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.605000	0.46283	0.658000	0.30925	0.561000	0.74099	AGC	.		0.587	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
KCNJ12	3768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	21319910	21319910	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21319910G>T	ENST00000583088.1	+	3	2151	c.1256G>T	c.(1255-1257)gGc>gTc	p.G419V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G419V	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	419					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CAGGCTGGCGGCGGGGTCCTG	0.697										Prostate(3;0.18)																											p.G419V		.											.	.	0			c.G1256T						.						21.0	24.0	23.0					17																	21319910		2202	4292	6494	SO:0001583	missense	100134444	exon3			CTGGCGGCGGGGT	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1256G>T	17.37:g.21319910G>T	ENSP00000463778:p.Gly419Val	59	0		95	7	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.479707	0.01035	.	.	ENSG00000184185	ENST00000331718	D	0.86627	-2.15	5.63	2.19	0.27852	.	0.921095	0.09350	N	0.814204	T	0.64951	0.2645	N	0.01576	-0.805	0.09310	N	1	B	0.18863	0.031	B	0.21360	0.034	T	0.56074	-0.8039	10	0.16896	T	0.51	.	4.6192	0.12442	0.1139:0.154:0.5759:0.1562	.	419	Q14500	IRK12_HUMAN	V	419	ENSP00000328150:G419V	ENSP00000328150:G419V	G	+	2	0	KCNJ12	21260503	0.141000	0.22595	0.000000	0.03702	0.004000	0.04260	3.585000	0.53943	0.720000	0.32209	-0.165000	0.13383	GGC	.		0.697	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
FAM27L	284123	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	21826156	21826156	+	lincRNA	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:21826156G>T	ENST00000426869.3	+	0	339					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		CTGTCCTGCAGGAGAGGAGCA	0.507																																					.		.											.	.	0			.						.						68.0	72.0	71.0					17																	21826156		1918	4128	6046			284123	.			CCTGCAGGAGAGG	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21826156G>T		139	1		150	64	.	0	0	0	0	0		RNA	SNP	ENST00000426869.3	37		.	.	.	.	.	.	.	.	.	.	G	0.162	-1.080359	0.01888	.	.	ENSG00000178130	ENST00000426869	.	.	.	0.158	-0.317	0.12736	.	.	.	.	.	T	0.37812	0.1017	.	.	.	0.23309	N	0.997939	.	.	.	.	.	.	T	0.43893	-0.9363	3	0.72032	D	0.01	.	.	.	.	.	.	.	.	H	45	.	ENSP00000388448:Q45H	Q	+	3	2	FAM27L	21750283	0.015000	0.18098	0.009000	0.14445	0.009000	0.06853	-1.128000	0.03247	-1.039000	0.03275	-1.027000	0.02421	CAG	.		0.507	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392	
VTN	7448	hgsc.bcm.edu	37	17	26699121	26699121	+	5'Flank	SNP	G	G	C	rs7212814		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:26699121G>C	ENST00000226218.4	-	0	0				CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000536498.1_5'Flank|SARM1_ENST00000457710.3_5'UTR|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GGCCCACGGCGGGGCGCCGAG	0.761													C|||	5008	1.0	1.0	1.0	5008	,	,		9002	1.0		1.0	False		,,,				2504	1.0				p.R23P		.											.	.	0			c.G68C						.						2.0	2.0	2.0					17																	26699121		1378	3066	4444	SO:0001631	upstream_gene_variant	23098	exon1			CACGGCGGGGCGC	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699121G>C	Exception_encountered	0	0		8	8	NM_015077	0	0	0	0	0	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	2181	0.9986263736263736	490	0.9959349593495935	362	1.0	571	0.9982517482517482	758	1.0	C	4.627	0.116613	0.08881	.	.	ENSG00000004139	ENST00000457710	.	.	.	4.93	3.94	0.45596	.	1.216040	0.06217	N	0.686070	T	0.00012	0.0000	.	.	.	0.45837	P	0.0012929999999999886	.	.	.	.	.	.	T	0.38757	-0.9646	5	0.02654	T	1	0.2642	5.2918	0.15731	0.1514:0.6261:0.1455:0.077	rs7212814	.	.	.	P	23	.	ENSP00000406738:R23P	R	+	2	0	SARM1	23723248	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.263000	0.33004	0.497000	0.27926	-1.514000	0.00941	CGG	G|0.001;C|0.999		0.761	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638	
ABHD15	116236	bcgsc.ca	37	17	27889986	27889986	+	Missense_Mutation	SNP	T	T	C	rs542939	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:27889986T>C	ENST00000307201.4	-	2	1170	c.1000A>G	c.(1000-1002)Acc>Gcc	p.T334A	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	334			T -> A (in dbSNP:rs542939). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCCAGTAGGTATCCCAGCTG	0.602													T|||	3846	0.767971	0.8109	0.6585	5008	,	,		18388	0.8998		0.6531	False		,,,				2504	0.7699				p.T334A		.											.	ABHD15-90	0			c.A1000G						.	T	ALA/THR	3388,1018	725.8+/-409.7	1293,802,108	68.0	62.0	64.0		1000	2.6	1.0	17	dbSNP_83	64	5642,2958	666.5+/-402.4	1840,1962,498	yes	missense	ABHD15	NM_198147.2	58	3133,2764,606	CC,CT,TT		34.3953,23.1049,30.5705	benign	334/469	27889986	9030,3976	2203	4300	6503	SO:0001583	missense	116236	exon2			AGTAGGTATCCCA	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1000A>G	17.37:g.27889986T>C	ENSP00000302657:p.Thr334Ala	114	2		81	5	NM_198147	0	0	0	0	0	Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	CCDS32602.1	1665	0.7623626373626373	395	0.8028455284552846	243	0.6712707182320442	520	0.9090909090909091	507	0.6688654353562006	T	9.089	1.001241	0.19121	0.768951	0.656047	ENSG00000168792	ENST00000307201	T	0.10763	2.84	5.92	2.57	0.30868	.	0.492803	0.21005	N	0.081795	T	0.00012	0.0000	N	0.02916	-0.46	0.44539	P	0.0025020000000000042	B	0.19935	0.04	B	0.20184	0.028	T	0.09952	-1.0651	9	0.23891	T	0.37	-10.5565	7.8137	0.29247	0.0:0.3108:0.0:0.6892	rs542939;rs3809794;rs52828212;rs59993345;rs542939	334	Q6UXT9	ABH15_HUMAN	A	334	ENSP00000302657:T334A	ENSP00000302657:T334A	T	-	1	0	ABHD15	24914112	0.040000	0.19996	0.994000	0.49952	0.997000	0.91878	0.092000	0.15066	0.510000	0.28216	0.533000	0.62120	ACC	T|0.268;C|0.732		0.602	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147	
GIT1	28964	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	27901828	27901830	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GGC	GGC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:27901828_27901830delGGC	ENST00000225394.3	-	20	2424_2426	c.2176_2178delGCC	c.(2176-2178)gccdel	p.A726del	GIT1_ENST00000581348.1_In_Frame_Del_p.A712del|GIT1_ENST00000394869.3_In_Frame_Del_p.A735del|GIT1_ENST00000579937.1_3'UTR|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	726	Interaction with PXN and TGFB1I1. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AGTCCACTGGGGCGCCGGGCTCT	0.655																																					p.735_735del	Colon(81;41 1719 20078 35068)	.											.	GIT1-251	0			c.2203_2205del						.																																			SO:0001651	inframe_deletion	28964	exon21			CACTGGGGCGCCG	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.2176_2178delGCC	17.37:g.27901828_27901830delGGC	ENSP00000225394:p.Ala726del	54	0		57	10	NM_001085454	0	0	0	0	0	B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	In_Frame_Del	DEL	ENST00000225394.3	37	CCDS11250.1																																																																																			.		0.655	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030	
EFCAB5	374786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	28407846	28407846	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:28407846C>T	ENST00000394835.3	+	17	3465	c.3273C>T	c.(3271-3273)aaC>aaT	p.N1091N	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.N967N	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1091							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCTTCTGGAACCAGTCCCGTA	0.443																																					p.N1091N		.											.	EFCAB5-70	0			c.C3273T						.						73.0	69.0	70.0					17																	28407846		1893	4112	6005	SO:0001819	synonymous_variant	374786	exon17			CTGGAACCAGTCC	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3273C>T	17.37:g.28407846C>T		189	0		155	34	NM_198529	0	0	0	0	0	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	CCDS11254.2																																																																																			.		0.443	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
CPD	1362	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	28748840	28748840	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:28748840A>T	ENST00000225719.4	+	4	1372	c.1296A>T	c.(1294-1296)gtA>gtT	p.V432V	CPD_ENST00000543464.2_Silent_p.V185V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	432	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ACCTTACAGTAGTTTTAACTG	0.338																																					p.V432V		.											.	CPD-92	0			c.A1296T						.						101.0	103.0	102.0					17																	28748840		2203	4300	6503	SO:0001819	synonymous_variant	1362	exon4			TACAGTAGTTTTA	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1296A>T	17.37:g.28748840A>T		77	0		68	18	NM_001304	0	0	0	0	0	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	CCDS11257.1																																																																																			.		0.338	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
CRLF3	51379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	29120477	29120477	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:29120477C>G	ENST00000324238.6	-	5	941	c.817G>C	c.(817-819)Gtg>Ctg	p.V273L	CRLF3_ENST00000544695.1_Missense_Mutation_p.V157L|CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	273	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CCATGAGGCACCAATGTGGAA	0.498																																					p.V273L	Pancreas(30;346 881 29244 33464 41299)	.											.	CRLF3-90	0			c.G817C						.						75.0	72.0	73.0					17																	29120477		2203	4300	6503	SO:0001583	missense	51379	exon5			GAGGCACCAATGT	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.817G>C	17.37:g.29120477C>G	ENSP00000318804:p.Val273Leu	120	0		111	46	NM_015986	0	0	0	0	0	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057975	0.55325	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.27890	1.64;1.64	5.48	5.48	0.80851	.	0.106561	0.64402	D	0.000005	T	0.27241	0.0668	L	0.45581	1.43	0.54753	D	0.999983	B	0.29988	0.264	B	0.17722	0.019	T	0.08086	-1.0739	10	0.12103	T	0.63	-12.8311	19.3155	0.94211	0.0:1.0:0.0:0.0	.	273	Q8IUI8	CRLF3_HUMAN	L	273;157	ENSP00000318804:V273L;ENSP00000444188:V157L	ENSP00000318804:V273L	V	-	1	0	CRLF3	26144603	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.535000	0.67173	2.581000	0.87130	0.591000	0.81541	GTG	.		0.498	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1		
SPACA3	124912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	31322454	31322454	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:31322454C>A	ENST00000269053.3	+	2	132	c.62C>A	c.(61-63)cCt>cAt	p.P21H	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_5'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	21					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GTTTCTTCTCCTTCTGTGAGT	0.612																																					p.P21H		.											.	SPACA3-92	0			c.C62A						.						76.0	79.0	78.0					17																	31322454		2203	4300	6503	SO:0001583	missense	124912	exon2			CTTCTCCTTCTGT	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.62C>A	17.37:g.31322454C>A	ENSP00000269053:p.Pro21His	131	0		130	20	NM_173847	0	0	0	0	0	Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	c	15.81	2.942991	0.53079	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.71461	-0.57	4.06	4.06	0.47325	.	4.691380	0.00508	N	0.000176	T	0.67192	0.2867	L	0.27053	0.805	0.24151	N	0.995691	P	0.50943	0.94	B	0.43783	0.431	T	0.59731	-0.7399	10	0.62326	D	0.03	-7.0287	12.4446	0.55643	0.0:1.0:0.0:0.0	.	21	Q8IXA5	SACA3_HUMAN	H	21;22	ENSP00000269053:P21H	ENSP00000269053:P21H	P	+	2	0	SPACA3	28346567	0.007000	0.16637	0.023000	0.16930	0.114000	0.19823	0.659000	0.24994	0.689000	0.31550	0.364000	0.22116	CCT	.		0.612	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847	
ASIC2	40	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	31618866	31618866	+	Intron	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:31618866C>A	ENST00000359872.6	-	2	1317				ASIC2_ENST00000225823.2_Missense_Mutation_p.V90L|ASIC2_ENST00000448983.1_5'Flank	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	AAGGCCAGCACCCACAGCGCC	0.692																																					p.V90L		.											.	.	0			c.G268T						.						18.0	21.0	20.0					17																	31618866		2188	4287	6475	SO:0001627	intron_variant	40	exon1			CCAGCACCCACAG	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179781G>T	17.37:g.31618866C>A		39	0		69	20	NM_183377	0	0	0	0	0	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	C	6.288	0.421310	0.11928	.	.	ENSG00000108684	ENST00000225823	T	0.61274	0.12	4.47	4.47	0.54385	.	0.856306	0.10128	N	0.712471	T	0.31451	0.0797	N	0.03177	-0.4	0.42447	D	0.992733	B	0.02656	0.0	B	0.11329	0.006	T	0.12477	-1.0546	10	0.08179	T	0.78	-34.1207	9.9704	0.41749	0.2029:0.7971:0.0:0.0	.	90	E9PBX2	.	L	90	ENSP00000225823:V90L	ENSP00000225823:V90L	V	-	1	0	ACCN1	28642979	0.699000	0.27786	1.000000	0.80357	0.845000	0.48019	1.124000	0.31320	2.029000	0.59856	0.313000	0.20887	GTG	.		0.692	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
UNC45B	146862	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	33498375	33498375	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:33498375C>A	ENST00000268876.5	+	13	1827	c.1730C>A	c.(1729-1731)aCc>aAc	p.T577N	UNC45B_ENST00000394570.2_Missense_Mutation_p.T575N|UNC45B_ENST00000378449.1_Missense_Mutation_p.T496N|UNC45B_ENST00000433649.1_Missense_Mutation_p.T575N|UNC45B_ENST00000591048.1_Missense_Mutation_p.T496N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	577					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCGGTGGCCACCACCCTGGTG	0.552											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T577N		.											.	UNC45B-157	0			c.C1730A						.						142.0	114.0	124.0					17																	33498375		2203	4300	6503	SO:0001583	missense	146862	exon13			TGGCCACCACCCT	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1730C>A	17.37:g.33498375C>A	ENSP00000268876:p.Thr577Asn	154	2	840	179	82	NM_173167	0	0	0	0	0	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904906	0.52333	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.68903	-0.36;-0.36;-0.36	5.87	3.72	0.42706	Armadillo-like helical (1);Armadillo-type fold (1);	0.195433	0.56097	N	0.000036	T	0.54870	0.1885	L	0.43152	1.355	0.38896	D	0.957225	B;B;B	0.33238	0.403;0.002;0.001	B;B;B	0.28232	0.087;0.006;0.003	T	0.59289	-0.7482	10	0.40728	T	0.16	-32.7377	11.7591	0.51892	0.1422:0.7287:0.1291:0.0	.	496;575;577	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	N	577;577;575;496	ENSP00000268876:T577N;ENSP00000412840:T575N;ENSP00000367710:T496N	ENSP00000268876:T577N	T	+	2	0	UNC45B	30522488	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.354000	0.52254	1.564000	0.49628	0.655000	0.94253	ACC	.		0.552	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
UNC45B	146862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	33504573	33504573	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:33504573G>T	ENST00000268876.5	+	17	2302	c.2205G>T	c.(2203-2205)caG>caT	p.Q735H	UNC45B_ENST00000394570.2_Missense_Mutation_p.Q733H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Q654H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Q733H|UNC45B_ENST00000591048.1_Missense_Mutation_p.Q654H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	735					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATGGGCTTCAGAACTATGAGG	0.572																																					p.Q735H		.											.	UNC45B-157	0			c.G2205T						.						48.0	35.0	40.0					17																	33504573		2201	4289	6490	SO:0001583	missense	146862	exon17			GCTTCAGAACTAT	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2205G>T	17.37:g.33504573G>T	ENSP00000268876:p.Gln735His	63	0		79	45	NM_173167	0	0	0	0	0	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693025	0.68271	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.48836	0.8;1.56;0.8	5.3	5.3	0.74995	Armadillo-like helical (1);Armadillo-type fold (1);	0.113026	0.64402	D	0.000009	T	0.69691	0.3139	M	0.87269	2.87	0.43750	D	0.996257	P;D;D	0.76494	0.899;0.993;0.999	P;D;D	0.68353	0.568;0.957;0.94	T	0.73886	-0.3841	10	0.66056	D	0.02	-31.2766	11.539	0.50655	0.0808:0.0:0.9192:0.0	.	654;733;735	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	H	735;735;733;654	ENSP00000268876:Q735H;ENSP00000412840:Q733H;ENSP00000367710:Q654H	ENSP00000268876:Q735H	Q	+	3	2	UNC45B	30528686	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.844000	0.55873	2.757000	0.94681	0.563000	0.77884	CAG	.		0.572	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
SLC35G3	146861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	33520493	33520493	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:33520493G>A	ENST00000297307.5	-	1	919	c.834C>T	c.(832-834)caC>caT	p.H278H	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	278	EamA 2.					integral component of membrane (GO:0016021)											CCAGGGCAGGGTGGGCCTTGG	0.572																																					p.H278H		.											.	.	0			c.C834T						.						167.0	152.0	157.0					17																	33520493		2203	4300	6503	SO:0001819	synonymous_variant	146861	exon1			GGCAGGGTGGGCC	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.834C>T	17.37:g.33520493G>A		219	0		251	53	NM_152462	0	0	0	0	0	B9EGE9	Silent	SNP	ENST00000297307.5	37	CCDS11293.1																																																																																			.		0.572	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462	
SLFN5	162394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	33592239	33592239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:33592239C>T	ENST00000299977.4	+	5	2156	c.2008C>T	c.(2008-2010)Cag>Tag	p.Q670*	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	670					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTTCATCACTCAGACAGCAAG	0.478																																					p.Q670X		.											.	SLFN5-92	0			c.C2008T						.						160.0	152.0	155.0					17																	33592239		2203	4300	6503	SO:0001587	stop_gained	162394	exon5			ATCACTCAGACAG	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2008C>T	17.37:g.33592239C>T	ENSP00000299977:p.Gln670*	221	0		184	26	NM_144975	0	0	0	0	0	Q08AF2|Q8WU54|Q96A82	Nonsense_Mutation	SNP	ENST00000299977.4	37	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	c	17.54	3.414733	0.62511	.	.	ENSG00000166750	ENST00000299977	.	.	.	3.27	-0.25	0.13007	.	0.214694	0.23563	N	0.046827	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	6.355	0.21397	0.199:0.4128:0.3882:0.0	.	.	.	.	X	670	.	ENSP00000299977:Q670X	Q	+	1	0	SLFN5	30616352	0.000000	0.05858	0.239000	0.24122	0.057000	0.15508	-0.427000	0.06999	-0.105000	0.12132	-0.181000	0.13052	CAG	.		0.478	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975	
SLFN13	146857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	33768243	33768243	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:33768243G>C	ENST00000285013.6	-	6	2340	c.2065C>G	c.(2065-2067)Cag>Gag	p.Q689E	SLFN13_ENST00000360502.2_Missense_Mutation_p.Q371E|SLFN13_ENST00000533791.1_Missense_Mutation_p.Q689E|SLFN13_ENST00000526861.1_Missense_Mutation_p.Q689E|SLFN13_ENST00000534689.1_Missense_Mutation_p.Q371E|SLFN13_ENST00000542635.1_Missense_Mutation_p.Q689E	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	689						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTTTCTCTCTGAGTGATGGTT	0.453																																					p.Q689E		.											.	SLFN13-91	0			c.C2065G						.						127.0	134.0	132.0					17																	33768243		2203	4300	6503	SO:0001583	missense	146857	exon6			CTCTCTGAGTGAT	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2065C>G	17.37:g.33768243G>C	ENSP00000285013:p.Gln689Glu	120	0		118	23	NM_144682	0	0	0	0	0	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	g	5.724	0.317997	0.10845	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1	3.41	1.2	0.21068	Domain of unknown function DUF2075 (1);	0.746921	0.11528	N	0.554946	D	0.84880	0.5570	M	0.77103	2.36	0.09310	N	0.999999	B;B	0.19935	0.04;0.009	B;B	0.24394	0.053;0.008	T	0.69960	-0.5003	10	0.22706	T	0.39	.	7.8989	0.29723	0.0:0.0:0.5547:0.4453	.	371;689	Q68D06-2;Q68D06	.;SLN13_HUMAN	E	689;371;689;689;371	ENSP00000285013:Q689E;ENSP00000353692:Q371E;ENSP00000434439:Q689E;ENSP00000444016:Q689E;ENSP00000435442:Q371E	ENSP00000285013:Q689E	Q	-	1	0	SLFN13	30792356	0.000000	0.05858	0.057000	0.19452	0.420000	0.31355	0.133000	0.15912	0.194000	0.20326	0.407000	0.27541	CAG	.		0.453	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
STARD3	10948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	37818535	37818535	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:37818535C>T	ENST00000336308.5	+	14	1389	c.1171C>T	c.(1171-1173)Ctc>Ttc	p.L391F	STARD3_ENST00000394250.4_Missense_Mutation_p.L373F|STARD3_ENST00000580611.1_Missense_Mutation_p.L365F|TCAP_ENST00000309889.2_5'Flank|STARD3_ENST00000544210.2_Missense_Mutation_p.L391F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	391	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTCATCGTGCTCAAGTCGGC	0.592																																					p.L391F		.											.	STARD3-90	0			c.C1171T						.						52.0	53.0	52.0					17																	37818535		2203	4300	6503	SO:0001583	missense	10948	exon14			ATCGTGCTCAAGT		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.1171C>T	17.37:g.37818535C>T	ENSP00000337446:p.Leu391Phe	120	0		146	46	NM_006804	0	0	0	0	0	A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816538	0.32145	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	T;T;T	0.79247	-1.25;-1.25;-1.25	5.78	5.78	0.91487	Lipid-binding START (3);START-like domain (1);	0.231220	0.34986	N	0.003533	T	0.64735	0.2625	L	0.38175	1.15	0.58432	D	0.999994	B;B;B;B;B	0.27229	0.172;0.142;0.106;0.069;0.136	B;B;B;B;B	0.28709	0.093;0.071;0.059;0.062;0.091	T	0.57625	-0.7779	10	0.09843	T	0.71	-1.3798	8.9435	0.35745	0.1495:0.7756:0.0:0.0749	.	391;156;391;373;391	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	F	391;391;373	ENSP00000337446:L391F;ENSP00000439869:L391F;ENSP00000377794:L373F	ENSP00000337446:L391F	L	+	1	0	STARD3	35072061	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.734000	0.47368	2.750000	0.94351	0.549000	0.68633	CTC	.		0.592	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1		
MED24	9862	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	38179422	38179422	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:38179422T>C	ENST00000394128.2	-	20	2293	c.2212A>G	c.(2212-2214)Atg>Gtg	p.M738V	MED24_ENST00000501516.3_Missense_Mutation_p.M757V|MED24_ENST00000356271.3_Missense_Mutation_p.M725V|MED24_ENST00000394127.2_Missense_Mutation_p.M725V|MED24_ENST00000394126.1_Missense_Mutation_p.M763V	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	738					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACGCCGCCCATGTGCAGCAGG	0.602																																					p.M738V		.											.	MED24-187	0			c.A2212G						.						69.0	64.0	65.0					17																	38179422		2203	4300	6503	SO:0001583	missense	9862	exon20			CGCCCATGTGCAG	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2212A>G	17.37:g.38179422T>C	ENSP00000377686:p.Met738Val	221	2		238	114	NM_014815	0	0	0	0	0	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.773958	0.31411	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000535508;ENST00000501516;ENST00000431269	T;T;T	0.44083	0.93;0.93;0.93	4.32	4.32	0.51571	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.43152	1.355	0.58432	D	0.999999	B;P;B;P;P;P	0.44776	0.017;0.811;0.145;0.811;0.843;0.811	B;P;B;P;P;P	0.61722	0.021;0.879;0.111;0.828;0.893;0.879	T	0.37407	-0.9707	10	0.07175	T	0.84	-27.2368	13.671	0.62424	0.0:0.0:0.0:1.0	.	688;648;648;725;738;680	F5H5K2;F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	V	738;738;738;688;725;680;299;209;648	ENSP00000377686:M738V;ENSP00000443344:M688V;ENSP00000377685:M725V	ENSP00000348610:M738V	M	-	1	0	MED24	35432948	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.829000	0.86735	1.804000	0.52760	0.459000	0.35465	ATG	.		0.602	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815	
WIPF2	147179	broad.mit.edu	37	17	38430251	38430251	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:38430251G>T	ENST00000323571.4	+	6	1420	c.1180G>T	c.(1180-1182)Gat>Tat	p.D394Y	WIPF2_ENST00000394103.3_Splice_Site_p.D136Y|WIPF2_ENST00000536600.1_Splice_Site_p.D136Y|WIPF2_ENST00000585043.1_Splice_Site_p.D394Y|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Splice_Site_p.D394Y	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	394					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GTCTTTCTTGGGTGAGTAGCT	0.587										HNSCC(43;0.11)																											p.D394Y		.											.	WIPF2-93	0			c.G1180T						.						129.0	105.0	113.0					17																	38430251		2203	4300	6503	SO:0001630	splice_region_variant	147179	exon6			TTCTTGGGTGAGT	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.1180+1G>T	17.37:g.38430251G>T		46	1		41	8	NM_133264	0	0	0	0	0	A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359123	0.82353	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.55234	0.56;0.53;0.53	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	M	0.67700	2.07	0.80722	D	1	D;P	0.76494	0.999;0.878	D;P	0.70935	0.971;0.851	T	0.73525	-0.3955	10	0.87932	D	0	-10.3858	17.0585	0.86541	0.0:0.0:1.0:0.0	.	136;394	A8MWR2;Q8TF74	.;WIPF2_HUMAN	Y	394;136;136	ENSP00000320924:D394Y;ENSP00000377663:D136Y;ENSP00000439175:D136Y	ENSP00000320924:D394Y	D	+	1	0	WIPF2	35683777	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.440000	0.73435	2.640000	0.89533	0.561000	0.74099	GAT	.		0.587	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264	Missense_Mutation
KRT20	54474	ucsc.edu	37	17	39041305	39041305	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39041305G>A	ENST00000167588.3	-	1	174	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	45	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTGGAGATGCGGATGCCCCGG	0.597																																					p.R45C		.											.	KRT20-155	0			c.C133T						.						71.0	67.0	68.0					17																	39041305		2203	4300	6503	SO:0001583	missense	54474	exon1			AGATGCGGATGCC	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.133C>T	17.37:g.39041305G>A	ENSP00000167588:p.Arg45Cys	54	1		53	9	NM_019010	0	0	0	0	0	B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957217	0.73902	.	.	ENSG00000171431	ENST00000167588	D	0.84298	-1.83	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000013	D	0.92051	0.7481	M	0.83118	2.625	0.54753	D	0.999982	D	0.89917	1.0	D	0.71656	0.974	D	0.90585	0.4532	10	0.31617	T	0.26	.	15.5059	0.75739	0.0:0.1377:0.8623:0.0	.	45	P35900	K1C20_HUMAN	C	45	ENSP00000167588:R45C	ENSP00000167588:R45C	R	-	1	0	KRT20	36294831	1.000000	0.71417	0.999000	0.59377	0.651000	0.38670	2.638000	0.46562	2.737000	0.93849	0.655000	0.94253	CGC	.		0.597	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2		
KRTAP4-7	100132476	broad.mit.edu	37	17	39240795	39240795	+	Missense_Mutation	SNP	A	A	T	rs541163988|rs553572799|rs9894966	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39240795A>T	ENST00000391417.4	+	1	337	c.337A>T	c.(337-339)Agc>Tgc	p.S113C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	138	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.S113C(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgccgccccagctgctgccg	0.667																																					p.S113C		.											.	.	3	Substitution - Missense(1)|Unknown(1)|Deletion - In frame(1)	NS(2)|prostate(1)	c.A337T						.						13.0	14.0	14.0					17																	39240795		692	1589	2281	SO:0001583	missense	100132476	exon1			CGCCCCAGCTGCT	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.337A>T	17.37:g.39240795A>T	ENSP00000375236:p.Ser113Cys	25	0		145	13	NM_033061	0	0	0	0	0	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	2.613	-0.290379	0.05568	.	.	ENSG00000240871	ENST00000391417	T	0.00640	6.03	2.73	1.42	0.22433	.	2.038930	0.02697	N	0.111300	T	0.00666	0.0022	.	.	.	0.20403	N	0.999909	B	0.09022	0.002	B	0.12837	0.008	T	0.46190	-0.9209	9	0.56958	D	0.05	.	3.0387	0.06130	0.5149:0.2451:0.0:0.24	rs9894966	168	Q9BYR0	KRA47_HUMAN	C	113	ENSP00000375236:S113C	ENSP00000375236:S113C	S	+	1	0	KRTAP4-7	36494321	0.000000	0.05858	0.056000	0.19401	0.021000	0.10359	-0.332000	0.07904	0.986000	0.38683	0.240000	0.17902	AGC	.		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
KRTAP9-8	83901	broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	39394402	39394402	+	Missense_Mutation	SNP	C	C	G	rs562595855		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39394402C>G	ENST00000254072.6	+	1	106	c.99C>G	c.(97-99)tgC>tgG	p.C33W		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	33	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CACCCTGCTGCCAGCCCTCCT	0.627																																					p.C33W		.											.	KRTAP9-8-1	0			c.C99G						.						71.0	83.0	79.0					17																	39394402		2099	4296	6395	SO:0001583	missense	83901	exon1			CTGCTGCCAGCCC	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.99C>G	17.37:g.39394402C>G	ENSP00000254072:p.Cys33Trp	110	1		94	19	NM_031963	0	0	0	0	0		Missense_Mutation	SNP	ENST00000254072.6	37	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.758287	0.49468	.	.	ENSG00000187272	ENST00000254072	T	0.02552	4.25	2.95	1.96	0.26148	.	.	.	.	.	T	0.14874	0.0359	M	0.91510	3.215	0.43230	D	0.995127	D	0.64830	0.994	D	0.63957	0.92	T	0.00478	-1.1715	9	0.87932	D	0	.	8.353	0.32314	0.0:0.8699:0.0:0.1301	.	33	Q9BYQ0	KRA98_HUMAN	W	33	ENSP00000254072:C33W	ENSP00000254072:C33W	C	+	3	2	KRTAP9-8	36647928	0.003000	0.15002	0.005000	0.12908	0.969000	0.65631	1.000000	0.29770	0.510000	0.28216	0.462000	0.41574	TGC	.		0.627	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1		
KRT36	8689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39645883	39645883	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39645883C>A	ENST00000328119.6	-	1	233	c.234G>T	c.(232-234)gtG>gtT	p.V78V	KRT36_ENST00000393986.2_Silent_p.V28V	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	78	Head.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCCCGCTCCCCACAAAGCCAG	0.612																																					p.V78V		.											.	KRT36-90	0			c.G234T						.						71.0	74.0	73.0					17																	39645883		2203	4300	6503	SO:0001819	synonymous_variant	8689	exon1			GCTCCCCACAAAG	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.234G>T	17.37:g.39645883C>A		105	0		118	36	NM_003771	0	0	0	0	0	Q86XG4	Silent	SNP	ENST00000328119.6	37	CCDS11395.1																																																																																			.		0.612	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771	
KRT14	3861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39742633	39742633	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39742633G>C	ENST00000167586.6	-	1	540	c.454C>G	c.(454-456)Cag>Gag	p.Q152E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	152	Linker 1.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCTGCCTCTGGTACCAGTCA	0.572																																					p.Q152E		.											.	KRT14-91	0			c.C454G						.						157.0	153.0	154.0					17																	39742633		2203	4300	6503	SO:0001583	missense	3861	exon1			GCCTCTGGTACCA	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.454C>G	17.37:g.39742633G>C	ENSP00000167586:p.Gln152Glu	242	0		238	52	NM_000526	0	0	0	0	0	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	G	4.126	0.021600	0.08006	.	.	ENSG00000186847	ENST00000167586	D	0.88046	-2.33	4.95	3.97	0.46021	Filament (1);	0.000000	0.51477	D	0.000097	T	0.73171	0.3553	N	0.11756	0.17	0.33379	D	0.574613	B	0.23540	0.087	B	0.35278	0.199	T	0.67810	-0.5574	10	0.10377	T	0.69	.	4.8686	0.13620	0.0802:0.1281:0.5795:0.2123	.	152	P02533	K1C14_HUMAN	E	152	ENSP00000167586:Q152E	ENSP00000167586:Q152E	Q	-	1	0	KRT14	36996159	0.386000	0.25180	1.000000	0.80357	0.731000	0.41821	0.173000	0.16724	2.464000	0.83262	0.549000	0.68633	CAG	.		0.572	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526	
KRT16	3868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39766464	39766464	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39766464G>A	ENST00000301653.4	-	7	1369	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	435	Tail.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AATAGGATTGGCCAGATGCTT	0.607																																					p.G435G		.											.	KRT16-91	0			c.C1305T						.						39.0	41.0	40.0					17																	39766464		2203	4300	6503	SO:0001819	synonymous_variant	3868	exon7			GGATTGGCCAGAT	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1305C>T	17.37:g.39766464G>A		263	0		284	57	NM_005557	0	0	0	0	0	A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	CCDS11401.1																																																																																			.		0.607	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557	
LEPREL4	10609	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39964251	39964251	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39964251C>T	ENST00000355468.3	-	6	1388	c.922G>A	c.(922-924)Gat>Aat	p.D308N	LEPREL4_ENST00000393928.1_Missense_Mutation_p.D308N			Q92791	SC65_HUMAN	leprecan-like 4	308					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGGCGCACATCATTCACTGCA	0.602																																					p.D308N		.											.	LEPREL4-90	0			c.G922A						.						86.0	71.0	76.0					17																	39964251		2203	4300	6503	SO:0001583	missense	10609	exon5			GCACATCATTCAC	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.922G>A	17.37:g.39964251C>T	ENSP00000347649:p.Asp308Asn	213	0		199	35	NM_006455	0	0	0	0	0	Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087571	0.55968	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.44482	0.92;0.92	5.2	5.2	0.72013	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	L	0.28192	0.835	0.58432	D	0.999996	D;D	0.65815	0.995;0.986	P;P	0.56474	0.799;0.799	T	0.08973	-1.0696	10	0.05959	T	0.93	-33.8835	17.4903	0.87701	0.0:1.0:0.0:0.0	.	297;308	B4DVZ5;Q92791	.;SC65_HUMAN	N	308;308;297	ENSP00000347649:D308N;ENSP00000377505:D308N	ENSP00000347649:D308N	D	-	1	0	LEPREL4	37217777	1.000000	0.71417	0.262000	0.24481	0.415000	0.31203	5.850000	0.69473	2.709000	0.92574	0.655000	0.94253	GAT	.		0.602	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2		
ACLY	47	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	40054039	40054039	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:40054039C>A	ENST00000352035.2	-	13	1522	c.1392G>T	c.(1390-1392)gtG>gtT	p.V464V	ACLY_ENST00000590151.1_Silent_p.V464V|ACLY_ENST00000393896.2_Silent_p.V464V|ACLY_ENST00000353196.1_Silent_p.V464V|ACLY_ENST00000537919.1_Silent_p.V203V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	464					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TTGCAGGCGCCACCTCATCGG	0.577																																					p.V464V	Colon(64;807 1396 15971 30971)	.											.	ACLY-228	0			c.G1392T						.						42.0	39.0	40.0					17																	40054039		2203	4300	6503	SO:0001819	synonymous_variant	47	exon13			AGGCGCCACCTCA	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1392G>T	17.37:g.40054039C>A		66	0		70	35	NM_001096	0	0	0	0	0	B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	CCDS11412.1																																																																																			.		0.577	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	
GHDC	84514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	40344460	40344460	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:40344460C>T	ENST00000301671.8	-	4	1129	c.688G>A	c.(688-690)Gga>Aga	p.G230R	GHDC_ENST00000587427.1_Missense_Mutation_p.G230R|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000593209.1_Missense_Mutation_p.G230R|GHDC_ENST00000428494.2_Missense_Mutation_p.G191R|GHDC_ENST00000436923.2_Missense_Mutation_p.G230R|GHDC_ENST00000414034.3_Missense_Mutation_p.G230R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	230						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGAGGCGCTCCAGGGTTCCCG	0.652																																					p.G230R		.											.	GHDC-90	0			c.G688A						.						74.0	88.0	83.0					17																	40344460		2203	4300	6503	SO:0001583	missense	84514	exon5			GCGCTCCAGGGTT	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.688G>A	17.37:g.40344460C>T	ENSP00000301671:p.Gly230Arg	62	0		82	39	NM_001142623	0	0	0	0	0	B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838882	0.71373	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.52	4.52	0.55395	.	0.086611	0.46145	D	0.000302	T	0.76118	0.3943	M	0.65975	2.015	0.38021	D	0.934867	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.989;1.0	T	0.78884	-0.2028	9	0.44086	T	0.13	-12.0799	14.5458	0.68030	0.0:1.0:0.0:0.0	.	191;230;230	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	R	174;191;230;230;230	.	ENSP00000301671:G230R	G	-	1	0	GHDC	37597986	0.911000	0.30947	0.823000	0.32752	0.663000	0.39108	4.376000	0.59556	2.352000	0.79861	0.561000	0.74099	GGA	.		0.652	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484	
ITGA2B	3674	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	42452028	42452028	+	Splice_Site	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:42452028T>A	ENST00000262407.5	-	28	2973	c.2942A>T	c.(2941-2943)cAg>cTg	p.Q981L	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	981					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CACACTCACCTGAGCTTCCCC	0.637																																					p.Q981L		.											.	ITGA2B-228	0			c.A2942T						.						48.0	53.0	52.0					17																	42452028		2203	4300	6503	SO:0001630	splice_region_variant	3674	exon28			CTCACCTGAGCTT		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2943+1A>T	17.37:g.42452028T>A		96	1		94	18	NM_000419	0	0	0	0	0	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	T	0.632	-0.816802	0.02776	.	.	ENSG00000005961	ENST00000262407	T	0.54279	0.58	4.75	-2.13	0.07144	.	2.827680	0.02193	N	0.061554	T	0.20659	0.0497	N	0.01417	-0.88	0.22581	N	0.998963	B	0.02656	0.0	B	0.01281	0.0	T	0.05582	-1.0876	10	0.22109	T	0.4	.	1.901	0.03267	0.2768:0.4095:0.1701:0.1437	.	981	P08514	ITA2B_HUMAN	L	981	ENSP00000262407:Q981L	ENSP00000262407:Q981L	Q	-	2	0	ITGA2B	39807554	0.000000	0.05858	0.068000	0.19968	0.007000	0.05969	-1.798000	0.01747	-0.670000	0.05282	-1.272000	0.01410	CAG	.		0.637	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		Missense_Mutation
ADAM11	4185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	42847371	42847371	+	Nonsense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:42847371C>G	ENST00000200557.6	+	4	505	c.336C>G	c.(334-336)taC>taG	p.Y112*	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	112					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCTCGCAATACGTGGAGCGCC	0.677																																					p.Y112X		.											.	ADAM11-227	0			c.C336G						.						57.0	50.0	52.0					17																	42847371		2203	4300	6503	SO:0001587	stop_gained	4185	exon4			GCAATACGTGGAG	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.336C>G	17.37:g.42847371C>G	ENSP00000200557:p.Tyr112*	103	0		144	24	NM_002390	0	0	0	0	0	Q14808|Q14809|Q14810	Nonsense_Mutation	SNP	ENST00000200557.6	37	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275586	0.40294	.	.	ENSG00000073670	ENST00000200557;ENST00000355638	.	.	.	4.63	-7.87	0.01183	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4089	0.87480	0.0:0.1164:0.0:0.8836	.	.	.	.	X	112;12	.	ENSP00000200557:Y112X	Y	+	3	2	ADAM11	40202897	0.009000	0.17119	0.293000	0.24932	0.627000	0.37826	-1.818000	0.01717	-1.654000	0.01499	-0.254000	0.11334	TAC	.		0.677	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390	
KANSL1	284058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	44117207	44117207	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:44117207C>A	ENST00000262419.6	-	8	2534	c.2064G>T	c.(2062-2064)caG>caT	p.Q688H	KANSL1_ENST00000575318.1_Missense_Mutation_p.Q688H|KANSL1_ENST00000572904.1_Missense_Mutation_p.Q688H|KANSL1_ENST00000432791.1_Missense_Mutation_p.Q688H|KANSL1_ENST00000393476.3_Missense_Mutation_p.Q45H|KANSL1_ENST00000574590.1_Missense_Mutation_p.Q688H	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	688					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGTTCTGCCACTGAGATTTCA	0.473																																					p.Q688H		.											.	.	0			c.G2064T						.						161.0	153.0	155.0					17																	44117207		2203	4300	6503	SO:0001583	missense	284058	exon8			CTGCCACTGAGAT	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2064G>T	17.37:g.44117207C>A	ENSP00000262419:p.Gln688His	93	0		95	20	NM_001193466	0	0	0	0	0	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677461	0.47886	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.23950	2.69;2.69;1.88	6.05	3.98	0.46160	.	0.177279	0.52532	D	0.000077	T	0.19846	0.0477	L	0.27053	0.805	0.36876	D	0.889179	P;P;P;B	0.37101	0.552;0.552;0.582;0.395	B;B;B;B	0.42593	0.187;0.187;0.134;0.392	T	0.15206	-1.0445	10	0.22706	T	0.39	-10.9468	8.8415	0.35144	0.0:0.7607:0.0:0.2393	.	19;19;688;688	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	H	688;688;45	ENSP00000262419:Q688H;ENSP00000387393:Q688H;ENSP00000377117:Q45H	ENSP00000262419:Q688H	Q	-	3	2	KIAA1267	41473054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.997000	0.29731	0.812000	0.34326	0.650000	0.86243	CAG	.		0.473	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443	
WNT3	7473	broad.mit.edu;ucsc.edu	37	17	44846126	44846126	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:44846126C>A	ENST00000225512.5	-	4	790	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	210					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.G210R(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CCCGACAGCCCGTGGCACTTG	0.622																																					p.A210S		.											.	WNT3-522	1	Substitution - Missense(1)	large_intestine(1)	c.G628T						.						70.0	73.0	72.0					17																	44846126		2203	4300	6503	SO:0001583	missense	7473	exon4			ACAGCCCGTGGCA	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.628G>T	17.37:g.44846126C>A	ENSP00000225512:p.Gly210Trp	120	2		125	22	NM_030753	0	0	0	0	0	Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682326	0.88542	.	.	ENSG00000108379	ENST00000225512	D	0.84589	-1.87	5.16	5.16	0.70880	Secreted growth factor Wnt protein, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95671	0.8592	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97183	0.9852	10	0.87932	D	0	.	18.8438	0.92196	0.0:1.0:0.0:0.0	.	210	P56703	WNT3_HUMAN	W	210	ENSP00000225512:G210W	ENSP00000225512:G210W	G	-	1	0	WNT3	42201295	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	7.651000	0.83577	2.676000	0.91093	0.561000	0.74099	GGG	.		0.622	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753	
OSBPL7	114881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	45894628	45894628	+	Silent	SNP	T	T	A	rs377044941		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:45894628T>A	ENST00000007414.3	-	8	887	c.696A>T	c.(694-696)acA>acT	p.T232T	OSBPL7_ENST00000392507.3_Silent_p.T232T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	232					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TTACCTGGTGTGTGGGGATAA	0.592																																					p.T232T		.											.	OSBPL7-68	0			c.A696T						.						59.0	55.0	57.0					17																	45894628		2203	4300	6503	SO:0001819	synonymous_variant	114881	exon8			CTGGTGTGTGGGG	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.696A>T	17.37:g.45894628T>A		63	0		33	18	NM_145798	0	0	0	0	0	D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	CCDS11515.1																																																																																			.		0.592	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731	
IGF2BP1	10642	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	47121377	47121377	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:47121377G>T	ENST00000290341.3	+	11	1583	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.V278L	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	417	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGCCCAGGCAGTGGGCGCCAT	0.607																																					p.V417L	Esophageal Squamous(198;1041 2123 8248 37119 38268)	.											.	IGF2BP1-226	0			c.G1249T						.						99.0	89.0	92.0					17																	47121377		2203	4300	6503	SO:0001583	missense	10642	exon11			CAGGCAGTGGGCG	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1249G>T	17.37:g.47121377G>T	ENSP00000290341:p.Val417Leu	116	1		115	56	NM_006546	0	0	0	0	0	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	36	5.744994	0.96882	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.36157	1.27;1.27	6.17	6.17	0.99709	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.129869	0.52532	D	0.000075	T	0.69169	0.3081	M	0.91561	3.22	0.80722	D	1	P;D	0.61697	0.704;0.99	P;D	0.65874	0.693;0.939	T	0.74447	-0.3662	10	0.87932	D	0	-23.6754	19.6509	0.95805	0.0:0.0:1.0:0.0	.	278;417	C9JT33;Q9NZI8	.;IF2B1_HUMAN	L	417;278	ENSP00000290341:V417L;ENSP00000389135:V278L	ENSP00000290341:V417L	V	+	1	0	IGF2BP1	44476376	1.000000	0.71417	0.955000	0.39395	0.905000	0.53344	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GTG	.		0.607	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
NGFR	4804	hgsc.bcm.edu	37	17	47584004	47584004	+	Silent	SNP	C	C	T	rs116077510	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:47584004C>T	ENST00000172229.3	+	3	677	c.552C>T	c.(550-552)gcC>gcT	p.A184A	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Silent_p.A90A	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	184					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CACGCTGGGCCGACGCCGAGT	0.716													C|||	171	0.0341454	0.0023	0.0014	5008	,	,		6207	0.0972		0.004	False		,,,				2504	0.0665				p.A184A		.											.	NGFR-947	0			c.C552T						.	C		9,4263		0,9,2127	9.0	8.0	8.0		552	-5.0	1.0	17	dbSNP_132	8	36,8334		0,36,4149	no	coding-synonymous	NGFR	NM_002507.3		0,45,6276	TT,TC,CC		0.4301,0.2107,0.356		184/428	47584004	45,12597	2136	4185	6321	SO:0001819	synonymous_variant	4804	exon3			CTGGGCCGACGCC	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.552C>T	17.37:g.47584004C>T		3	0		63	44	NM_002507	0	0	0	0	0	B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	CCDS11549.1																																																																																			C|0.969;T|0.031		0.716	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1		
DLX3	1747	broad.mit.edu;bcgsc.ca	37	17	48068892	48068892	+	Missense_Mutation	SNP	C	C	A	rs148713638	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:48068892C>A	ENST00000434704.2	-	3	1078	c.853G>T	c.(853-855)Gct>Tct	p.A285S	DLX3_ENST00000512495.2_Missense_Mutation_p.A165S	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	285					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAGTACACAGCCCCAGGGTTG	0.647																																					p.A285S		.											.	DLX3-90	0			c.G853T						.						14.0	16.0	15.0					17																	48068892		2195	4282	6477	SO:0001583	missense	1747	exon3			ACACAGCCCCAGG		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.853G>T	17.37:g.48068892C>A	ENSP00000389870:p.Ala285Ser	27	0		21	8	NM_005220	0	0	0	0	0	B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236806	0.22711	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.91631	-2.88;-2.85	4.76	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.86920	0.6049	L	0.39633	1.23	0.44136	D	0.996928	B	0.06786	0.001	B	0.08055	0.003	T	0.83277	-0.0040	10	0.66056	D	0.02	-8.9592	8.8525	0.35208	0.0:0.8987:0.0:0.1013	.	285	O60479	DLX3_HUMAN	S	285;165	ENSP00000389870:A285S;ENSP00000449976:A165S	ENSP00000389870:A285S	A	-	1	0	DLX3	45423891	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	4.894000	0.63206	1.256000	0.44068	-0.265000	0.10407	GCT	C|1.000;T|0.000		0.647	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1		
ITGA3	3675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	48154781	48154781	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:48154781G>T	ENST00000320031.8	+	16	2439	c.2109G>T	c.(2107-2109)gaG>gaT	p.E703D	ITGA3_ENST00000007722.7_Missense_Mutation_p.E703D	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	703					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCTTTTGCGAGCTGGGGAACC	0.592																																					p.E703D		.											.	ITGA3-229	0			c.G2109T						.						106.0	98.0	101.0					17																	48154781		2203	4300	6503	SO:0001583	missense	3675	exon16			TTGCGAGCTGGGG	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2109G>T	17.37:g.48154781G>T	ENSP00000315190:p.Glu703Asp	136	0		135	25	NM_005501	0	0	0	0	0	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.10|16.10	3.026515|3.026515	0.54683|0.54683	.|.	.|.	ENSG00000005884|ENSG00000005884	ENST00000506827|ENST00000007722;ENST00000538917;ENST00000320031	.|T;T	.|0.48836	.|0.8;0.8	5.32|5.32	-1.55|-1.55	0.08558|0.08558	.|Integrin alpha-2 (1);	.|0.148457	.|0.64402	.|N	.|0.000013	T|T	0.40694|0.40694	0.1127|0.1127	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	.|D;P	.|0.65815	.|0.995;0.479	.|P;B	.|0.54312	.|0.748;0.217	T|T	0.55354|0.55354	-0.8154|-0.8154	5|10	.|0.06236	.|T	.|0.91	.|.	5.604|5.604	0.17369|0.17369	0.348:0.2363:0.4157:0.0|0.348:0.2363:0.4157:0.0	.|.	.|703;703	.|P26006-1;P26006	.|.;ITA3_HUMAN	S|D	82|703;689;703	.|ENSP00000007722:E703D;ENSP00000315190:E703D	.|ENSP00000007722:E703D	A|E	+|+	1|3	0|2	ITGA3|ITGA3	45509780|45509780	1.000000|1.000000	0.71417|0.71417	0.717000|0.717000	0.30585|0.30585	0.855000|0.855000	0.48748|0.48748	0.771000|0.771000	0.26633|0.26633	-0.365000|-0.365000	0.08076|0.08076	0.563000|0.563000	0.77884|0.77884	GCT|GAG	.		0.592	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501	
SGCA	6442	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	48246526	48246526	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:48246526G>T	ENST00000262018.3	+	6	694	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S	SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_Missense_Mutation_p.A118S|SGCA_ENST00000344627.6_Intron|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	220					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CGATAGCCACGCCCGCTGTGC	0.572											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A220S		.											.	SGCA-92	0			c.G658T						.						90.0	78.0	82.0					17																	48246526		2203	4300	6503	SO:0001583	missense	6442	exon6			AGCCACGCCCGCT	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.658G>T	17.37:g.48246526G>T	ENSP00000262018:p.Ala220Ser	72	0	953	59	28	NM_000023	0	0	0	0	0	A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663897	0.47572	.	.	ENSG00000108823	ENST00000262018;ENST00000451235	D;D	0.97710	-4.5;-4.5	5.14	4.1	0.47936	.	0.441318	0.23065	N	0.052324	D	0.95185	0.8439	L	0.47716	1.5	0.20403	N	0.999905	P;P	0.48503	0.911;0.911	P;B	0.45639	0.488;0.402	D	0.88864	0.3328	10	0.13108	T	0.6	-20.82	9.3504	0.38133	0.0:0.1558:0.6837:0.1606	.	118;220	B7Z1L1;Q16586	.;SGCA_HUMAN	S	220;118	ENSP00000262018:A220S;ENSP00000390371:A118S	ENSP00000262018:A220S	A	+	1	0	SGCA	45601525	0.153000	0.22777	0.945000	0.38365	0.865000	0.49528	1.444000	0.35068	2.389000	0.81357	0.462000	0.41574	GCC	.		0.572	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023	
CACNA1G	8913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	48677192	48677192	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:48677192G>A	ENST00000359106.5	+	17	3662	c.3662G>A	c.(3661-3663)gGg>gAg	p.G1221E	CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1221E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1221E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1221E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1198E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1198E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1198E|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G1198E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1198E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1198E|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1221E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1221E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1198E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1198E	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1221					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCACTGGATGGGGATGACGCC	0.672																																					p.G1221E		.											.	CACNA1G-67	0			c.G3662A						.						22.0	25.0	24.0					17																	48677192		2002	4148	6150	SO:0001583	missense	8913	exon17			TGGATGGGGATGA	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3662G>A	17.37:g.48677192G>A	ENSP00000352011:p.Gly1221Glu	61	0		91	38	NM_001256360	0	0	0	0	0	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	9.638	1.138300	0.21123	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97114	-3.89;-3.88;-4.06;-3.83;-3.88;-3.89;-3.9;-4.01;-3.97;-3.98;-3.99;-3.85;-3.85;-3.94;-3.86;-3.82;-3.91;-3.86;-3.84;-3.92;-3.88;-3.86;-3.9;-3.85;-3.91;-3.9;-4.25	4.66	2.58	0.30949	.	0.437586	0.24368	N	0.039140	D	0.94925	0.8359	N	0.14661	0.345	0.26560	N	0.973751	D;B;P;D;B;D;D;B;D;B;B;B;B;B;D;B;P;B;B;B;D;B;B;B;P;P	0.89917	1.0;0.008;0.941;1.0;0.038;1.0;1.0;0.021;1.0;0.017;0.038;0.009;0.002;0.038;0.99;0.0;0.65;0.013;0.038;0.01;1.0;0.002;0.038;0.002;0.718;0.762	D;B;P;D;B;D;D;B;D;B;B;B;B;B;P;B;B;B;B;B;D;B;B;B;B;B	0.91635	0.998;0.009;0.577;0.999;0.013;0.962;0.999;0.013;0.999;0.005;0.01;0.012;0.005;0.01;0.786;0.004;0.244;0.012;0.013;0.005;0.997;0.004;0.01;0.002;0.218;0.425	D	0.88324	0.2964	10	0.11794	T	0.64	.	8.3802	0.32466	0.0788:0.3002:0.6211:0.0	.	1198;1221;1221;1221;1221;1221;1221;1221;1221;1221;1221;1198;1221;1221;1221;1221;1221;1198;1221;1198;1198;1198;1198;1221;1198;1221	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	E	1198;1198;1221;1198;1198;1198;1221;1221;1198;1221;1221;1221;1221;1221;1221;1198;1221;1221;1221;1221;1198;1221;1221;1221;1221;1221;36	ENSP00000353990:G1198E;ENSP00000339302:G1198E;ENSP00000392390:G1221E;ENSP00000347078:G1198E;ENSP00000409759:G1198E;ENSP00000425522:G1198E;ENSP00000426261:G1221E;ENSP00000425451:G1221E;ENSP00000422407:G1198E;ENSP00000426814:G1221E;ENSP00000427238:G1221E;ENSP00000423112:G1221E;ENSP00000420918:G1221E;ENSP00000426172:G1221E;ENSP00000423045:G1221E;ENSP00000427173:G1198E;ENSP00000426098:G1221E;ENSP00000425698:G1221E;ENSP00000426232:G1221E;ENSP00000423317:G1221E;ENSP00000350979:G1198E;ENSP00000352011:G1221E;ENSP00000414388:G1221E;ENSP00000423155:G1221E;ENSP00000422268:G1221E;ENSP00000421518:G1221E;ENSP00000427697:G36E	ENSP00000339302:G1198E	G	+	2	0	CACNA1G	46032191	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	4.191000	0.58372	0.522000	0.28464	0.561000	0.74099	GGG	.		0.672	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
CACNA1G	8913	bcgsc.ca	37	17	48703752	48703752	+	Silent	SNP	T	T	C	rs739925	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:48703752T>C	ENST00000359106.5	+	38	6774	c.6774T>C	c.(6772-6774)ccT>ccC	p.P2258P	CACNA1G_ENST00000507336.1_Silent_p.P2247P|CACNA1G_ENST00000514079.1_Silent_p.P2172P|CACNA1G_ENST00000507609.1_Silent_p.P2158P|CACNA1G_ENST00000513689.2_Silent_p.P2168P|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000507510.2_Silent_p.P2213P|CACNA1G_ENST00000507896.1_Silent_p.P2075P|CACNA1G_ENST00000502264.1_Silent_p.P2187P|CACNA1G_ENST00000510366.1_Silent_p.P2113P|CACNA1G_ENST00000513964.1_Silent_p.P2120P|CACNA1G_ENST00000354983.4_Silent_p.P2224P|CACNA1G_ENST00000515411.1_Silent_p.P2195P|CACNA1G_ENST00000514717.1_Silent_p.P2108P|CACNA1G_ENST00000352832.5_Silent_p.P2131P|CACNA1G_ENST00000514181.1_Silent_p.P2140P|CACNA1G_ENST00000505165.1_Silent_p.P2086P|CACNA1G_ENST00000512389.1_Silent_p.P2154P|CACNA1G_ENST00000510115.1_Silent_p.P2179P|CACNA1G_ENST00000442258.2_Silent_p.P2124P|CACNA1G_ENST00000503485.1_Silent_p.P2131P|CACNA1G_ENST00000429973.2_Silent_p.P2147P|CACNA1G_ENST00000515165.1_Silent_p.P2165P|CACNA1G_ENST00000515765.1_Silent_p.P2202P|CACNA1G_ENST00000360761.4_Silent_p.P2142P|CACNA1G_ENST00000358244.5_Silent_p.P2052P	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2258					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCGCCGGCCTACGTCCTGGC	0.677											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1839	0.367212	0.5393	0.2651	5008	,	,		14167	0.1786		0.4433	False		,,,				2504	0.3231				p.P2258P		.											.	CACNA1G-67	0			c.T6774C						.	C	,,,,,,,,,,,,,	2057,2001		538,981,510	16.0	21.0	19.0		6774,6156,6705,6462,6537,6606,6426,6561,6495,6639,6441,6393,6372,6672	-10.9	0.0	17	dbSNP_86	19	3608,4724		780,2048,1338	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1	,,,,,,,,,,,,,	1318,3029,1848	CC,CT,TT		43.3029,49.31,45.7224	,,,,,,,,,,,,,	2258/2378,2052/2172,2235/2355,2154/2274,2179/2299,2202/2322,2142/2262,2187/2307,2165/2285,2213/2333,2147/2267,2131/2251,2124/2244,2224/2344	48703752	5665,6725	2029	4166	6195	SO:0001819	synonymous_variant	8913	exon38			CCGGCCTACGTCC	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6774T>C	17.37:g.48703752T>C		147	1	956	119	6	NM_018896	0	0	0	0	0	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																			T|0.144;G|0.286		0.677	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
KIF2B	84643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	51900753	51900753	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:51900753C>G	ENST00000268919.4	+	1	515	c.359C>G	c.(358-360)cCc>cGc	p.P120R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	120					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCGATGATCCCCCAGAAAAAC	0.597																																					p.P120R		.											.	KIF2B-98	0			c.C359G						.						70.0	73.0	72.0					17																	51900753		2203	4300	6503	SO:0001583	missense	84643	exon1			TGATCCCCCAGAA	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.359C>G	17.37:g.51900753C>G	ENSP00000268919:p.Pro120Arg	75	0		64	36	NM_032559	0	0	0	0	0	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	3.102	-0.184508	0.06340	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75154	-0.91	5.11	4.12	0.48240	.	0.000000	0.37623	N	0.002017	T	0.68650	0.3024	L	0.56199	1.76	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.62201	-0.6904	10	0.51188	T	0.08	.	11.6847	0.51479	0.0:0.8216:0.1784:0.0	.	120	Q8N4N8	KIF2B_HUMAN	R	120;43	ENSP00000268919:P120R	ENSP00000268919:P120R	P	+	2	0	KIF2B	49255752	0.035000	0.19736	0.024000	0.17045	0.023000	0.10783	2.532000	0.45659	1.478000	0.48253	0.655000	0.94253	CCC	.		0.597	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
KIF2B	84643	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	51900846	51900846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:51900846delG	ENST00000268919.4	+	1	608	c.452delG	c.(451-453)tggfs	p.W151fs		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	151					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCCTGCCTCTGGGAAATCCAG	0.562																																					p.W151fs		.											.	KIF2B-98	0			c.452delG						.						51.0	56.0	54.0					17																	51900846		2202	4299	6501	SO:0001589	frameshift_variant	84643	exon1			GCCTCTGGGAAAT	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.452delG	17.37:g.51900846delG	ENSP00000268919:p.Trp151fs	71	0		75	29	NM_032559	0	0	0	0	0	Q96MA2|Q9BXG6	Frame_Shift_Del	DEL	ENST00000268919.4	37	CCDS32685.1																																																																																			.		0.562	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
TOM1L1	10040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	53014522	53014522	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:53014522G>T	ENST00000575882.1	+	10	1321	c.968G>T	c.(967-969)aGt>aTt	p.S323I	TOM1L1_ENST00000572158.1_Missense_Mutation_p.S316I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.S323I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.S246I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.S323I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.S246I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.S323I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.S211I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	323					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CTAAGTCCCAGTCCCCGGATG	0.438																																					p.S323I		.											.	TOM1L1-91	0			c.G968T						.						112.0	114.0	113.0					17																	53014522		2203	4300	6503	SO:0001583	missense	10040	exon10			GTCCCAGTCCCCG	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.968G>T	17.37:g.53014522G>T	ENSP00000460823:p.Ser323Ile	39	0		32	14	NM_005486	0	0	0	0	0	Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973884	0.34848	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.26373	1.74;1.76;1.77;1.77	5.22	4.23	0.50019	.	0.582843	0.17538	N	0.170640	T	0.18341	0.0440	L	0.27053	0.805	0.25967	N	0.982559	B;B;B;B;B	0.10296	0.001;0.001;0.003;0.001;0.001	B;B;B;B;B	0.08055	0.003;0.002;0.003;0.002;0.001	T	0.12578	-1.0542	10	0.41790	T	0.15	-0.6567	10.6387	0.45579	0.0:0.0:0.8011:0.1989	.	211;316;246;323;323	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749	.;.;.;TM1L1_HUMAN;.	I	323;211;246;246	ENSP00000408958:S323I;ENSP00000441242:S211I;ENSP00000343901:S246I;ENSP00000443099:S246I	ENSP00000343901:S246I	S	+	2	0	TOM1L1	50369521	0.047000	0.20315	0.652000	0.29579	0.783000	0.44284	1.253000	0.32886	1.369000	0.46134	0.643000	0.83706	AGT	.		0.438	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486	
NOG	9241	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	54671840	54671840	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:54671840G>T	ENST00000332822.4	+	1	781	c.256G>T	c.(256-258)Gac>Tac	p.D86Y		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	86					axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					GCCCCCCGAGGAccggcccgg	0.721																																					p.D86Y		.											.	NOG-90	0			c.G256T						.						13.0	15.0	14.0					17																	54671840		2182	4240	6422	SO:0001583	missense	9241	exon1			CCCGAGGACCGGC	U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"""synostoses (multiple) syndrome 1"", ""symphalangism 1 (proximal)"""	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.256G>T	17.37:g.54671840G>T	ENSP00000328181:p.Asp86Tyr	17	0		68	17	NM_005450	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332822.4	37	CCDS11589.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978490	0.74360	.	.	ENSG00000183691	ENST00000332822	D	0.98617	-5.03	4.12	4.12	0.48240	.	0.179223	0.47093	D	0.000241	D	0.98223	0.9412	M	0.67953	2.075	0.80722	D	1	D	0.62365	0.991	P	0.50314	0.637	D	0.99056	1.0829	10	0.72032	D	0.01	-8.6046	16.9052	0.86124	0.0:0.0:1.0:0.0	.	86	Q13253	NOGG_HUMAN	Y	86	ENSP00000328181:D86Y	ENSP00000328181:D86Y	D	+	1	0	NOG	52026839	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.191000	0.94940	2.265000	0.75225	0.563000	0.77884	GAC	.		0.721	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323857.1	NM_005450	
LPO	4025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56326518	56326518	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:56326518T>C	ENST00000262290.4	+	5	739	c.423T>C	c.(421-423)atT>atC	p.I141I	LPO_ENST00000582328.1_Silent_p.I58I|LPO_ENST00000543544.1_Silent_p.I82I|LPO_ENST00000421678.2_Silent_p.I58I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	141					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						ACCGCACCATTACGGGAGACT	0.642																																					p.I141I		.											.	LPO-91	0			c.T423C						.						82.0	70.0	74.0					17																	56326518		2203	4300	6503	SO:0001819	synonymous_variant	4025	exon5			CACCATTACGGGA	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.423T>C	17.37:g.56326518T>C		68	0		69	18	NM_006151	0	0	0	0	0	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	CCDS32689.1																																																																																			.		0.642	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1		
MTMR4	9110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56570286	56570286	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:56570286C>A	ENST00000323456.5	-	17	3362	c.3238G>T	c.(3238-3240)Gat>Tat	p.D1080Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.D1023Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1080					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCAGTATCACTGCCATCT	0.413																																					p.D1080Y		.											.	MTMR4-91	0			c.G3238T						.						159.0	129.0	139.0					17																	56570286		2203	4300	6503	SO:0001583	missense	9110	exon17			CAGTATCACTGCC	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3238G>T	17.37:g.56570286C>A	ENSP00000325285:p.Asp1080Tyr	262	0		213	33	NM_004687	0	0	0	0	0	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383850	0.61845	.	.	ENSG00000108389	ENST00000323456	D	0.93659	-3.26	5.93	5.93	0.95920	.	0.095493	0.64402	D	0.000001	D	0.93032	0.7782	L	0.38531	1.155	0.38037	D	0.935342	D	0.62365	0.991	P	0.55161	0.77	D	0.90602	0.4545	10	0.14252	T	0.57	.	19.3319	0.94293	0.0:1.0:0.0:0.0	.	1080	Q9NYA4	MTMR4_HUMAN	Y	1080	ENSP00000325285:D1080Y	ENSP00000325285:D1080Y	D	-	1	0	MTMR4	53925285	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.430000	0.52807	2.821000	0.97095	0.555000	0.69702	GAT	.		0.413	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687	
MTMR4	9110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56570288	56570288	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:56570288C>A	ENST00000323456.5	-	17	3360	c.3236G>T	c.(3235-3237)aGt>aTt	p.S1079I	MTMR4_ENST00000579925.1_Missense_Mutation_p.S1022I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1079					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCAGTATCACTGCCATCTGA	0.418																																					p.S1079I		.											.	MTMR4-91	0			c.G3236T						.						156.0	126.0	136.0					17																	56570288		2203	4300	6503	SO:0001583	missense	9110	exon17			GTATCACTGCCAT	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3236G>T	17.37:g.56570288C>A	ENSP00000325285:p.Ser1079Ile	263	0		209	33	NM_004687	0	0	0	0	0	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136877	0.77662	.	.	ENSG00000108389	ENST00000323456	D	0.94376	-3.41	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	L	0.53249	1.67	0.44067	D	0.996817	D	0.76494	0.999	D	0.66196	0.942	D	0.95679	0.8730	10	0.87932	D	0	.	19.3319	0.94293	0.0:1.0:0.0:0.0	.	1079	Q9NYA4	MTMR4_HUMAN	I	1079	ENSP00000325285:S1079I	ENSP00000325285:S1079I	S	-	2	0	MTMR4	53925287	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	5.528000	0.67129	2.821000	0.97095	0.555000	0.69702	AGT	.		0.418	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687	
SEPT4	5414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56598641	56598641	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:56598641C>G	ENST00000317268.3	-	9	1264	c.1088G>C	c.(1087-1089)cGa>cCa	p.R363P	SEPT4_ENST00000426861.1_3'UTR|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_Missense_Mutation_p.R378P|SEPT4_ENST00000580844.1_Missense_Mutation_p.R264P|SEPT4_ENST00000393086.1_Missense_Mutation_p.R344P|SEPT4_ENST00000317256.6_Missense_Mutation_p.R344P|SEPT4_ENST00000583114.1_Missense_Mutation_p.R216P|SEPT4_ENST00000579371.1_Missense_Mutation_p.R264P|SEPT4_ENST00000412945.3_Missense_Mutation_p.R355P	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	363	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGTAGAGTCGACCCCGAAC	0.582											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R378P		.											.	SEPT4-68	0			c.G1133C						.						77.0	68.0	71.0					17																	56598641		2203	4300	6503	SO:0001583	missense	5414	exon10			TAGAGTCGACCCC	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.1088G>C	17.37:g.56598641C>G	ENSP00000321674:p.Arg363Pro	160	0	1016	138	33	NM_001256782	0	0	0	0	0	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090078	0.36855	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88258	0.6388	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.958;1.0	D;D;D;P;D	0.97110	1.0;0.999;1.0;0.751;1.0	D	0.91798	0.5449	10	0.87932	D	0	.	17.2516	0.87044	0.0:1.0:0.0:0.0	.	355;378;344;216;363	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	P	355;377;344;363;344	ENSP00000414779:R355P;ENSP00000321071:R344P;ENSP00000321674:R363P;ENSP00000376801:R344P	ENSP00000321071:R344P	R	-	2	0	SEPT4	53953640	1.000000	0.71417	0.966000	0.40874	0.997000	0.91878	7.818000	0.86416	2.657000	0.90304	0.655000	0.94253	CGA	.		0.582	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417	
TEX14	56155	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56676889	56676889	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:56676889T>A	ENST00000240361.8	-	14	1920	c.1835A>T	c.(1834-1836)gAg>gTg	p.E612V	TEX14_ENST00000389934.3_Missense_Mutation_p.E606V|TEX14_ENST00000349033.5_Missense_Mutation_p.E606V			Q8IWB6	TEX14_HUMAN	testis expressed 14	612					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGCTGGCCTCTTCTGCCAT	0.527																																					p.E612V		.											.	TEX14-810	0			c.A1835T						.						51.0	52.0	52.0					17																	56676889		2203	4300	6503	SO:0001583	missense	56155	exon14			CTGGCCTCTTCTG	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1835A>T	17.37:g.56676889T>A	ENSP00000240361:p.Glu612Val	69	0		105	51	NM_001201457	0	0	0	0	0	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.406106	0.83230	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80033	-1.33;-1.33;-1.28	5.61	3.28	0.37604	.	0.345909	0.22367	N	0.060989	T	0.74680	0.3748	L	0.27053	0.805	0.09310	N	1	B;D;D	0.57899	0.084;0.981;0.981	B;P;P	0.56474	0.028;0.799;0.799	T	0.63928	-0.6526	10	0.48119	T	0.1	-1.7071	2.717	0.05190	0.4043:0.1228:0.0:0.4729	.	612;606;606	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	V	612;606;606	ENSP00000240361:E612V;ENSP00000374584:E606V;ENSP00000268910:E606V	ENSP00000240361:E612V	E	-	2	0	TEX14	54031888	0.001000	0.12720	0.218000	0.23776	0.787000	0.44495	0.428000	0.21395	0.933000	0.37291	-0.333000	0.08304	GAG	.		0.527	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
HEATR6	63897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	58137396	58137396	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:58137396G>C	ENST00000184956.6	-	10	1494	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C	HEATR6_ENST00000585976.1_Missense_Mutation_p.S493C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	493							poly(A) RNA binding (GO:0044822)	p.S493C(2)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTCAGCAACAGAAAGAAACTG	0.433																																					p.S493C		.											.	HEATR6-227	2	Substitution - Missense(2)	kidney(2)	c.C1478G						.						141.0	138.0	139.0					17																	58137396		2203	4300	6503	SO:0001583	missense	63897	exon10			GCAACAGAAAGAA	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1478C>G	17.37:g.58137396G>C	ENSP00000184956:p.Ser493Cys	99	0		95	15	NM_022070	0	0	0	0	0	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083543	0.55861	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.67345	-0.26	5.68	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.052110	0.85682	D	0.000000	T	0.65852	0.2731	L	0.58101	1.795	0.52099	D	0.999948	B;B	0.22541	0.071;0.009	B;B	0.26202	0.067;0.017	T	0.65327	-0.6195	10	0.54805	T	0.06	-8.888	16.3064	0.82849	0.0:0.1321:0.8679:0.0	.	340;493	E7ESB9;Q6AI08	.;HEAT6_HUMAN	C	493;340	ENSP00000184956:S493C	ENSP00000184956:S493C	S	-	2	0	HEATR6	55492178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.448000	0.80631	1.556000	0.49512	0.558000	0.71614	TCT	.		0.433	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070	
NACA2	342538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	59668146	59668146	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:59668146A>T	ENST00000521764.1	-	1	417	c.396T>A	c.(394-396)tcT>tcA	p.S132S		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	132	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GTGCTTGCTGAGATAAATCTT	0.443																																					p.S132S		.											.	NACA2-91	0			c.T396A						.						164.0	162.0	163.0					17																	59668146		2203	4300	6503	SO:0001819	synonymous_variant	342538	exon1			TTGCTGAGATAAA	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.396T>A	17.37:g.59668146A>T		116	0		120	75	NM_199290	0	0	0	0	0	Q2VIR9	Silent	SNP	ENST00000521764.1	37	CCDS11630.1																																																																																			.		0.443	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290	
EFCAB3	146779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	60484029	60484029	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:60484029T>A	ENST00000305286.3	+	7	755	c.677T>A	c.(676-678)cTc>cAc	p.L226H	EFCAB3_ENST00000450662.2_Missense_Mutation_p.L278H	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	226							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CTTGAAGAGCTCAAGAGTAAG	0.388																																					p.L278H		.											.	EFCAB3-227	0			c.T833A						.						40.0	41.0	41.0					17																	60484029		2203	4300	6503	SO:0001583	missense	146779	exon9			AAGAGCTCAAGAG	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.677T>A	17.37:g.60484029T>A	ENSP00000302649:p.Leu226His	69	0		64	24	NM_001144933	0	0	0	0	0	J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756642	0.69648	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.73575	-0.76;-0.72	5.34	5.34	0.76211	.	0.000000	0.53938	D	0.000045	D	0.82710	0.5096	M	0.75777	2.31	0.37962	D	0.933001	D	0.71674	0.998	P	0.60236	0.871	D	0.86583	0.1855	10	0.87932	D	0	.	11.6282	0.51158	0.0:0.0:0.0:1.0	.	226	Q8N7B9	EFCB3_HUMAN	H	278;226	ENSP00000403932:L278H;ENSP00000302649:L226H	ENSP00000302649:L226H	L	+	2	0	EFCAB3	57837761	0.995000	0.38212	1.000000	0.80357	0.873000	0.50193	4.035000	0.57297	2.244000	0.73946	0.477000	0.44152	CTC	.		0.388	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503	
PSMC5	5705	bcgsc.ca	37	17	61903965	61903965	+	5'Flank	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:61903965G>T	ENST00000310144.6	+	0	0				PSMC5_ENST00000580864.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|FTSJ3_ENST00000427159.2_Silent_p.A45A|PSMC5_ENST00000581882.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCAAGGCTCGGGCTTTCTGCA	0.572																																					p.A45A		.											.	FTSJ3-91	0			c.C135A						.						53.0	52.0	52.0					17																	61903965		2203	4300	6503	SO:0001631	upstream_gene_variant	117246	exon3			GGCTCGGGCTTTC	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61903965G>T	Exception_encountered	58	1		55	4	NM_017647	0	0	0	0	0	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	CCDS11645.1																																																																																			.		0.572	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
GH2	2689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	61958131	61958131	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:61958131C>A	ENST00000423893.2	-	4	518		c.e4+1		GH2_ENST00000332800.7_Missense_Mutation_p.V153L|GH2_ENST00000456543.2_Intron|GH2_ENST00000449787.2_Splice_Site			P01242	SOM2_HUMAN	growth hormone 2						JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GCCACCCTCACCCACATCAGC	0.607																																					p.V153L		.											.	GH2-93	0			c.G457T						.						87.0	86.0	86.0					17																	61958131		2203	4300	6503	SO:0001630	splice_region_variant	2689	exon4			CCCTCACCCACAT	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.456+1G>T	17.37:g.61958131C>A		180	0		163	32	NM_022557	0	0	0	0	0	B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	CCDS11647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|c	8.166|8.166	0.790525|0.790525	0.16258|0.16258	.|.	.|.	ENSG00000136487|ENSG00000136487	ENST00000423893;ENST00000449787|ENST00000332800	.|T	.|0.41758	.|0.99	2.94|2.94	2.94|2.94	0.34122|0.34122	.|.	.|0.696300	.|0.13403	.|N	.|0.390464	.|T	.|0.60301	.|0.2258	.|.	.|.	.|.	0.28078|0.28078	N|N	0.932315|0.932315	.|D	.|0.76494	.|0.999	.|D	.|0.79784	.|0.993	.|T	.|0.51276	.|-0.8726	.|9	.|0.52906	.|T	.|0.07	.|.	11.7079|11.7079	0.51607|0.51607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|153	.|B1A4H7	.|.	.|L	-1|153	.|ENSP00000333157:V153L	.|ENSP00000333157:V153L	.|V	-|-	.|1	.|0	GH2|GH2	59311863|59311863	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.091000|0.091000	0.18340|0.18340	5.105000|5.105000	0.64591|0.64591	1.644000|1.644000	0.50603|0.50603	0.306000|0.306000	0.20318|0.20318	.|GTG	.		0.607	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059	Intron
ABCA6	23460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	67094069	67094069	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:67094069C>A	ENST00000284425.2	-	23	3286	c.3112G>T	c.(3112-3114)Gat>Tat	p.D1038Y	ABCA6_ENST00000446604.2_5'UTR|MIR4524B_ENST00000581569.1_RNA	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1038					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACCTTGTAATCACTGATGCTG	0.368																																					p.D1038Y		.											.	ABCA6-159	0			c.G3112T						.						57.0	52.0	54.0					17																	67094069		2203	4300	6503	SO:0001583	missense	23460	exon23			TGTAATCACTGAT	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3112G>T	17.37:g.67094069C>A	ENSP00000284425:p.Asp1038Tyr	26	0		17	7	NM_080284	0	0	0	0	0	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464089	0.63513	.	.	ENSG00000154262	ENST00000284425	D	0.87729	-2.29	4.92	4.92	0.64577	.	0.000000	0.53938	D	0.000052	D	0.93776	0.8010	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94293	0.7530	10	0.87932	D	0	.	13.8152	0.63287	0.0:1.0:0.0:0.0	.	1038	Q8N139	ABCA6_HUMAN	Y	1038	ENSP00000284425:D1038Y	ENSP00000284425:D1038Y	D	-	1	0	ABCA6	64605664	0.988000	0.35896	0.989000	0.46669	0.860000	0.49131	3.587000	0.53957	2.717000	0.92951	0.557000	0.71058	GAT	.		0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
KCNJ2	3759	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	68171793	68171793	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:68171793G>T	ENST00000243457.3	+	2	996	c.613G>T	c.(613-615)Gac>Tac	p.D205Y	KCNJ2_ENST00000535240.1_Missense_Mutation_p.D205Y	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	205					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TGCCATGAGAGACGGCAAGCT	0.493																																					p.D205Y		.											.	KCNJ2-90	0			c.G613T						.						129.0	106.0	114.0					17																	68171793		2203	4300	6503	SO:0001583	missense	3759	exon2			ATGAGAGACGGCA	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.613G>T	17.37:g.68171793G>T	ENSP00000243457:p.Asp205Tyr	176	1		189	95	NM_000891	0	0	0	0	0	O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339041	0.41398	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.93366	-3.21;-3.21	5.76	5.76	0.90799	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98860	1.0762	9	.	.	.	.	19.9664	0.97271	0.0:0.0:1.0:0.0	.	205	P63252	IRK2_HUMAN	Y	205	ENSP00000441848:D205Y;ENSP00000243457:D205Y	.	D	+	1	0	KCNJ2	65683388	1.000000	0.71417	0.795000	0.32087	0.119000	0.20118	9.869000	0.99810	2.718000	0.92993	0.655000	0.94253	GAC	.		0.493	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891	
SDK2	54549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	71334923	71334923	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:71334923C>A	ENST00000392650.3	-	45	6322	c.6322G>T	c.(6322-6324)Ggt>Tgt	p.G2108C	SDK2_ENST00000388726.3_Missense_Mutation_p.G2089C|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2108					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCTGGCTCACCCGAGTCGCTC	0.632																																					p.G2108C		.											.	SDK2-24	0			c.G6322T						.						153.0	120.0	132.0					17																	71334923		2203	4300	6503	SO:0001583	missense	54549	exon45			GCTCACCCGAGTC	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6322G>T	17.37:g.71334923C>A	ENSP00000376421:p.Gly2108Cys	187	0		174	41	NM_001144952	0	0	0	0	0	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448178	0.84101	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.60299	0.2;0.22;1.48	4.71	4.71	0.59529	.	0.060978	0.64402	D	0.000004	T	0.63450	0.2512	L	0.34521	1.04	0.58432	D	0.999998	P;D	0.58268	0.939;0.982	P;P	0.58013	0.571;0.831	T	0.68390	-0.5421	10	0.72032	D	0.01	.	17.3033	0.87188	0.0:1.0:0.0:0.0	.	2108;2089	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	C	1732;2108;2089;1265;2108;449	ENSP00000376421:G2108C;ENSP00000373378:G2089C;ENSP00000407098:G1265C	ENSP00000324967:G2108C	G	-	1	0	SDK2	68846518	0.998000	0.40836	0.712000	0.30502	0.720000	0.41350	5.869000	0.69613	2.168000	0.68352	0.650000	0.86243	GGT	.		0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	
GPR142	350383	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	72368353	72368353	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72368353G>T	ENST00000335666.4	+	4	1051	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	335						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACCAACTCGGCCATCATCCA	0.612																																					p.A335S		.											.	GPR142-93	0			c.G1003T						.						134.0	99.0	111.0					17																	72368353		2203	4300	6503	SO:0001583	missense	350383	exon4			AACTCGGCCATCA	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1003G>T	17.37:g.72368353G>T	ENSP00000335158:p.Ala335Ser	170	2		205	82	NM_181790	0	0	0	0	0	A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505723	0.44558	.	.	ENSG00000257008	ENST00000335666	T	0.36878	1.23	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.290085	0.34223	N	0.004149	T	0.44477	0.1295	L	0.40543	1.245	0.29848	N	0.82869	D;D	0.59357	0.959;0.985	P;P	0.57425	0.629;0.82	T	0.41448	-0.9508	10	0.62326	D	0.03	-18.543	12.9142	0.58197	0.083:0.0:0.917:0.0	.	335;1297	Q7Z601;Q8NGB0	GP142_HUMAN;.	S	335	ENSP00000335158:A335S	ENSP00000335158:A335S	A	+	1	0	GPR142	69879948	0.184000	0.23200	0.940000	0.37924	0.717000	0.41224	0.563000	0.23547	2.524000	0.85096	0.556000	0.70494	GCC	.		0.612	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790	
CD300LB	124599	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	72522169	72522169	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72522169C>A	ENST00000392621.1	-	2	203	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	CD300LB_ENST00000314401.3_Missense_Mutation_p.G67W	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	30	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GTCAGGGACCCCTGCTCTGGG	0.547																																					p.G67W		.											.	CD300LB-91	0			c.G199T						.						125.0	121.0	122.0					17																	72522169		2203	4300	6503	SO:0001583	missense	124599	exon2			GGGACCCCTGCTC	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.199G>T	17.37:g.72522169C>A	ENSP00000376397:p.Gly67Trp	55	0		81	43	NM_174892	0	0	0	0	0	Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	C	8.496	0.863145	0.17250	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.05139	3.49	5.05	4.06	0.47325	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.888069	0.09449	N	0.800728	T	0.37461	0.1004	H	0.95884	3.735	0.09310	N	1	D;D	0.89917	0.998;1.0	D;D	0.72075	0.962;0.976	T	0.29941	-0.9995	10	0.87932	D	0	-24.1255	12.0486	0.53493	0.0:0.9089:0.0:0.0911	.	67;30	B4DQ71;A8K4G0	.;CLM7_HUMAN	W	30;67	ENSP00000317337:G67W	ENSP00000317337:G67W	G	-	1	0	CD300LB	70033764	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	0.945000	0.29056	2.495000	0.84180	0.563000	0.77884	GGG	.		0.547	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892	
CD300E	342510	ucsc.edu;bcgsc.ca	37	17	72613500	72613500	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72613500A>G	ENST00000328630.3	-	2	185	c.145T>C	c.(145-147)Tgg>Cgg	p.W49R	CD300E_ENST00000392619.1_Missense_Mutation_p.W76R|CD300E_ENST00000426295.2_Missense_Mutation_p.W90R			Q496F6	CLM2_HUMAN	CD300e molecule	49	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCTCGGCACCAGTACTTGTTA	0.552																																					p.W49R		.											.	CD300E-156	0			c.T145C						.						193.0	125.0	148.0					17																	72613500		2203	4300	6503	SO:0001583	missense	342510	exon2			GGCACCAGTACTT	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.145T>C	17.37:g.72613500A>G	ENSP00000329942:p.Trp49Arg	143	2		123	56	NM_181449	0	0	0	0	0	B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.121400	0.37436	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	4.78	4.78	0.61160	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43747	D	0.000523	D	0.97306	0.9119	H	0.94462	3.54	0.36320	D	0.858207	D	0.89917	1.0	D	0.97110	1.0	D	0.99942	1.1419	10	0.87932	D	0	-11.4777	11.2599	0.49076	1.0:0.0:0.0:0.0	.	49	Q496F6	CLM2_HUMAN	R	76;90;49;51	ENSP00000376395:W76R;ENSP00000416642:W90R;ENSP00000329942:W49R;ENSP00000415488:W51R	ENSP00000329942:W49R	W	-	1	0	CD300E	70125095	1.000000	0.71417	0.979000	0.43373	0.005000	0.04900	4.677000	0.61634	2.096000	0.63516	0.482000	0.46254	TGG	.		0.552	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449	
RAB37	326624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	72725483	72725483	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72725483C>T	ENST00000340415.3	+	2	1170	c.161C>T	c.(160-162)gCc>gTc	p.A54V	RAB37_ENST00000402449.4_Missense_Mutation_p.A54V	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	61					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)	p.A54V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TCCTTCTCGGCCACTGTGGGC	0.602																																					p.A54V		.											.	RAB37-230	2	Substitution - Missense(2)	lung(2)	c.C161T						.						169.0	139.0	149.0					17																	72725483		2203	4300	6503	SO:0001583	missense	326624	exon2			TCTCGGCCACTGT	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	ENST00000340415.3:c.161C>T	17.37:g.72725483C>T	ENSP00000341354:p.Ala54Val	175	0		183	35	NM_175738	0	0	0	0	0	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000340415.3	37		.	.	.	.	.	.	.	.	.	.	c	35	5.445352	0.96187	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617	T;T	0.80653	-1.4;-1.4	5.27	5.27	0.74061	.	.	.	.	.	T	0.80576	0.4649	N	0.25426	0.745	0.80722	D	1	P;P;D	0.59767	0.866;0.74;0.986	P;P;P	0.54856	0.517;0.513;0.762	D	0.83488	0.0068	9	0.87932	D	0	.	16.752	0.85488	0.0:1.0:0.0:0.0	.	54;54;54	Q96AX2-2;A8MSP2;A8MUU7	.;.;.	V	54	ENSP00000341354:A54V;ENSP00000383934:A54V	ENSP00000341354:A54V	A	+	2	0	RAB37	70237078	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.100000	0.76989	2.503000	0.84419	0.639000	0.83563	GCC	.		0.602	RAB37-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000258876.2	NM_175738	
FADS6	283985	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	72875688	72875688	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72875688C>A	ENST00000310226.6	-	5	766	c.752G>T	c.(751-753)cGg>cTg	p.R251L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	257					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CTTGTTGTCCCGGGAGAACAT	0.652																																					p.R251L		.											.	FADS6-22	0			c.G752T						.						37.0	41.0	40.0					17																	72875688		2065	4198	6263	SO:0001583	missense	283985	exon5			TTGTCCCGGGAGA	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.752G>T	17.37:g.72875688C>A	ENSP00000307821:p.Arg251Leu	183	1		178	46	NM_178128	0	0	0	0	0	Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045700	0.36085	.	.	ENSG00000172782	ENST00000310226;ENST00000413142	T	0.19394	2.15	5.27	-10.5	0.00291	Fatty acid desaturase, type 1 (1);	0.852056	0.10045	N	0.722962	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.20273	-1.0280	10	0.29301	T	0.29	-3.2592	3.4696	0.07562	0.2925:0.1167:0.4413:0.1495	.	105;257	B4DEP0;Q8N9I5	.;FADS6_HUMAN	L	251;105	ENSP00000307821:R251L	ENSP00000307821:R251L	R	-	2	0	FADS6	70387283	0.000000	0.05858	0.374000	0.26016	0.685000	0.39939	-0.354000	0.07681	-1.728000	0.01366	0.655000	0.94253	CGG	.		0.652	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1		
OTOP2	92736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	72926856	72926856	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:72926856G>C	ENST00000580223.1	+	5	1156	c.1126G>C	c.(1126-1128)Gcc>Ccc	p.A376P	OTOP2_ENST00000331427.4_Missense_Mutation_p.A376P			Q7RTS6	OTOP2_HUMAN	otopetrin 2	376						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GATGGGTGCCGCCCTGGGTCA	0.637																																					p.A376P		.											.	OTOP2-134	0			c.G1126C						.						76.0	67.0	70.0					17																	72926856		2203	4300	6503	SO:0001583	missense	92736	exon6			GGTGCCGCCCTGG	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1126G>C	17.37:g.72926856G>C	ENSP00000463837:p.Ala376Pro	186	0		179	42	NM_178160	0	0	0	0	0		Missense_Mutation	SNP	ENST00000580223.1	37	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449374	0.84101	.	.	ENSG00000183034	ENST00000331427	T	0.25250	1.81	5.47	5.47	0.80525	.	0.062767	0.64402	D	0.000003	T	0.54532	0.1864	M	0.79011	2.435	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.52170	-0.8611	10	0.40728	T	0.16	-18.7953	19.3792	0.94525	0.0:0.0:1.0:0.0	.	376	Q7RTS6	OTOP2_HUMAN	P	376	ENSP00000332528:A376P	ENSP00000332528:A376P	A	+	1	0	OTOP2	70438451	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	6.164000	0.71885	2.581000	0.87130	0.456000	0.33151	GCC	.		0.637	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160	
SLC16A5	9121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	73096274	73096274	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:73096274C>T	ENST00000450736.2	+	4	931	c.516C>T	c.(514-516)ttC>ttT	p.F172F	SLC16A5_ENST00000329783.4_Silent_p.F172F|SLC16A5_ENST00000580123.1_Silent_p.F172F|SLC16A5_ENST00000538213.2_Silent_p.F212F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	172					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGGGTACCTTCCTTGTCTTCG	0.642																																					p.F172F		.											.	SLC16A5-90	0			c.C516T						.						50.0	50.0	50.0					17																	73096274		2203	4300	6503	SO:0001819	synonymous_variant	9121	exon5			TACCTTCCTTGTC	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.516C>T	17.37:g.73096274C>T		129	0		139	61	NM_001271765	0	0	0	0	0	B4E288	Silent	SNP	ENST00000450736.2	37	CCDS11713.1																																																																																			.		0.642	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695	
TRIM47	91107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	73871533	73871533	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:73871533G>C	ENST00000254816.2	-	5	1250	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Silent_p.L170L	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	408						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCGTACTCTCGAGGTCTTGGG	0.592																																					p.L408L		.											.	TRIM47-659	0			c.C1224G						.						81.0	75.0	77.0					17																	73871533		2203	4300	6503	SO:0001819	synonymous_variant	91107	exon5			ACTCTCGAGGTCT	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1224C>G	17.37:g.73871533G>C		114	0		95	34	NM_033452	0	0	0	0	0	Q96AD0|Q96GU5|Q9BRN7	Silent	SNP	ENST00000254816.2	37	CCDS32737.1																																																																																			.		0.592	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1		
UBE2O	63893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	74392628	74392628	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:74392628C>A	ENST00000319380.7	-	14	2454	c.2390G>T	c.(2389-2391)gGg>gTg	p.G797V	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	797					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CTCCATCAGCCCGGCCATGGG	0.632																																					p.G797V		.											.	UBE2O-272	0			c.G2390T						.						81.0	94.0	90.0					17																	74392628		2203	4300	6503	SO:0001583	missense	63893	exon14			ATCAGCCCGGCCA	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2390G>T	17.37:g.74392628C>A	ENSP00000323687:p.Gly797Val	48	0		46	15	NM_022066	0	0	0	0	0	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115798	0.37339	.	.	ENSG00000175931	ENST00000319380	T	0.73897	-0.79	4.79	4.79	0.61399	.	0.505505	0.20565	N	0.089840	T	0.54078	0.1836	N	0.14661	0.345	0.48762	D	0.999709	B	0.15141	0.012	B	0.12837	0.008	T	0.54938	-0.8218	10	0.59425	D	0.04	.	4.7397	0.13007	0.2091:0.6561:0.0:0.1348	.	797	Q9C0C9	UBE2O_HUMAN	V	797	ENSP00000323687:G797V	ENSP00000323687:G797V	G	-	2	0	UBE2O	71904223	0.981000	0.34729	1.000000	0.80357	0.960000	0.62799	0.902000	0.28459	2.206000	0.71126	0.462000	0.41574	GGG	.		0.632	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066	
CBX4	8535	broad.mit.edu	37	17	77807925	77807925	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:77807925C>A	ENST00000269397.4	-	5	1693	c.1516G>T	c.(1516-1518)Gcg>Tcg	p.A506S		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	506	Interaction with BMI1.|Poly-Ala.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			gctgccgccgccaccgccacc	0.701																																					p.A506S		.											.	CBX4-228	0			c.G1516T						.						15.0	21.0	19.0					17																	77807925		1800	3727	5527	SO:0001583	missense	8535	exon5			CCGCCGCCACCGC	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1516G>T	17.37:g.77807925C>A	ENSP00000269397:p.Ala506Ser	20	1		86	51	NM_003655	0	0	0	0	0	B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	c	1.502	-0.551756	0.03996	.	.	ENSG00000141582	ENST00000269397;ENST00000343048	.	.	.	0.641	0.641	0.17759	.	261.598000	0.00465	U	0.000100	T	0.24547	0.0595	N	0.08118	0	0.26316	N	0.977758	P	0.52463	0.953	P	0.53988	0.739	T	0.44375	-0.9332	8	0.07482	T	0.82	.	.	.	.	.	506	O00257	CBX4_HUMAN	S	506;236	.	ENSP00000269397:A506S	A	-	1	0	CBX4	75422520	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.194000	0.09559	0.613000	0.30089	0.299000	0.19835	GCG	.		0.701	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655	
GAA	2548	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	78091491	78091491	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:78091491G>T	ENST00000302262.3	+	17	2643	c.2424G>T	c.(2422-2424)ccG>ccT	p.P808P	GAA_ENST00000390015.3_Silent_p.P808P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	808					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TGACGCTGCCGGCCCCCCTGG	0.692																																					p.P808P		.											.	GAA-91	0			c.G2424T						.						29.0	29.0	29.0					17																	78091491		2202	4297	6499	SO:0001819	synonymous_variant	2548	exon18			GCTGCCGGCCCCC		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2424G>T	17.37:g.78091491G>T		125	1		172	40	NM_001079803	0	0	0	0	0	Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	CCDS32760.1																																																																																			.		0.692	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1		
BAHCC1	57597	broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	79428055	79428055	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:79428055C>T	ENST00000307745.7	+	30	6366	c.6366C>T	c.(6364-6366)ctC>ctT	p.L2122L	RP11-1055B8.8_ENST00000572590.1_RNA																							TGCAGAACCTCTTCCAGCTCA	0.706																																					.		.											.	BAHCC1-23	0			.						.						10.0	16.0	14.0					17																	79428055		2015	4163	6178	SO:0001819	synonymous_variant	57597	.			GAACCTCTTCCAG																												ENST00000307745.7:c.6366C>T	17.37:g.79428055C>T		28	0		130	34	.	0	0	0	0	0		Silent	SNP	ENST00000307745.7	37																																																																																				.		0.706	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
MYADML2	255275	bcgsc.ca	37	17	79898737	79898737	+	Missense_Mutation	SNP	T	T	C	rs181984777	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:79898737T>C	ENST00000409745.2	-	3	1235	c.881A>G	c.(880-882)gAc>gGc	p.D294G	AC137723.5_ENST00000415556.1_RNA|MYADML2_ENST00000330655.3_Missense_Mutation_p.D294G	NM_001145113.2	NP_001138585.2	A6NDP7	MADL2_HUMAN	myeloid-associated differentiation marker-like 2	294	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)	1						GTAGGCGAGGTCAACGACGTA	0.647													T|||	14	0.00279553	0.0	0.0	5008	,	,		19451	0.0		0.0119	False		,,,				2504	0.002				p.D294G		.											.	MYADML2-68	0			c.A881G						.	T	GLY/ASP	3,1381		0,3,689	20.0	22.0	21.0		881	4.7	1.0	17		21	28,3154		0,28,1563	yes	missense	MYADML2	NM_001145113.2	94	0,31,2252	CC,CT,TT		0.8799,0.2168,0.6789	probably-damaging	294/308	79898737	31,4535	692	1591	2283	SO:0001583	missense	255275	exon3			GCGAGGTCAACGA	AC137723, BC029306	CCDS45815.1	17q25.3	2008-10-15			ENSG00000185105	ENSG00000185105			34548	protein-coding gene	gene with protein product							Standard	NM_001145113		Approved	LOC255275	uc010wvf.1	A6NDP7	OTTHUMG00000154388	ENST00000409745.2:c.881A>G	17.37:g.79898737T>C	ENSP00000386702:p.Asp294Gly	186	1		210	6	NM_001145113	0	0	0	0	0		Missense_Mutation	SNP	ENST00000409745.2	37	CCDS45815.1	8	0.003663003663003663	0	0.0	0	0.0	0	0.0	8	0.010554089709762533	T	16.50	3.141306	0.57044	0.002168	0.008799	ENSG00000185105	ENST00000409745;ENST00000330655	T;T	0.26660	1.72;1.72	4.68	4.68	0.58851	Marvel (1);MARVEL-like domain (1);	0.099468	0.64402	D	0.000002	T	0.41305	0.1153	M	0.87038	2.855	0.51482	D	0.999925	P	0.49090	0.919	P	0.54346	0.749	T	0.57177	-0.7856	10	0.87932	D	0	-11.2732	14.2809	0.66211	0.0:0.0:0.0:1.0	.	294	A6NDP7	MADL2_HUMAN	G	294	ENSP00000386702:D294G;ENSP00000327718:D294G	ENSP00000327718:D294G	D	-	2	0	MYADML2	77492028	1.000000	0.71417	0.957000	0.39632	0.255000	0.26057	7.728000	0.84847	1.965000	0.57142	0.459000	0.35465	GAC	T|0.996;C|0.004		0.647	MYADML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335008.2	XR_041347	
HEXDC	284004	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	80393626	80393626	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:80393626C>T	ENST00000327949.9	+	5	520	c.509C>T	c.(508-510)aCg>aTg	p.T170M	HEXDC_ENST00000577944.1_Missense_Mutation_p.T170M|HEXDC_ENST00000337014.6_Missense_Mutation_p.T170M			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	170					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGAACAGCACGGGGAAGTTG	0.672																																					p.T170M		.											.	HEXDC-92	0			c.C509T						.						62.0	73.0	69.0					17																	80393626		2035	4177	6212	SO:0001583	missense	284004	exon6			ACAGCACGGGGAA	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.509C>T	17.37:g.80393626C>T	ENSP00000332634:p.Thr170Met	69	1		172	68	NM_173620	0	0	0	0	0	B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37		.	.	.	.	.	.	.	.	.	.	C	4.549	0.101955	0.08731	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.95554	-3.74;-3.74	5.72	-5.75	0.02384	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	1.024250	0.07732	N	0.945466	D	0.86497	0.5947	N	0.17474	0.49	0.09310	N	1	B;P	0.42993	0.126;0.797	B;B	0.37601	0.021;0.254	T	0.80578	-0.1320	10	0.44086	T	0.13	-0.1811	4.7806	0.13201	0.1661:0.4978:0.2176:0.1185	.	170;170	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	M	170	ENSP00000337854:T170M;ENSP00000332634:T170M	ENSP00000332634:T170M	T	+	2	0	HEXDC	77986915	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.209000	0.17435	-0.836000	0.04229	-0.457000	0.05445	ACG	.		0.672	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620	
COLEC12	81035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	321761	321761	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:321761G>T	ENST00000400256.3	-	9	2317	c.2110C>A	c.(2110-2112)Cca>Aca	p.P704T	RP11-720L2.4_ENST00000580756.1_lincRNA	NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	704	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTTCTCCTGGCCCATGGCCA	0.443																																					p.P704T		.											.	COLEC12-92	0			c.C2110A						.						158.0	161.0	160.0					18																	321761		2203	4300	6503	SO:0001583	missense	81035	exon9			CTCCTGGCCCATG	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.2110C>A	18.37:g.321761G>T	ENSP00000383115:p.Pro704Thr	60	0		57	30	NM_130386	0	0	0	0	0	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921857	0.33908	.	.	ENSG00000158270	ENST00000400256	T	0.18338	2.22	5.68	5.68	0.88126	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.187186	0.47093	D	0.000255	T	0.15955	0.0384	N	0.26042	0.785	0.44024	D	0.996748	B	0.18968	0.032	B	0.17722	0.019	T	0.04593	-1.0940	10	0.34782	T	0.22	-11.4463	19.786	0.96437	0.0:0.0:1.0:0.0	.	704	Q5KU26	COL12_HUMAN	T	704	ENSP00000383115:P704T	ENSP00000383115:P704T	P	-	1	0	COLEC12	311761	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.046000	0.49846	2.676000	0.91093	0.563000	0.77884	CCA	.		0.443	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1		
CLUL1	27098	broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	627305	627305	+	Missense_Mutation	SNP	A	A	G	rs371155784		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:627305A>G	ENST00000400606.2	+	5	777	c.632A>G	c.(631-633)cAg>cGg	p.Q211R	CLUL1_ENST00000338387.7_Missense_Mutation_p.Q211R|CLUL1_ENST00000581619.1_Missense_Mutation_p.Q236R|CLUL1_ENST00000540035.1_Missense_Mutation_p.Q263R|CLUL1_ENST00000579494.1_Missense_Mutation_p.Q211R	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	211					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GAGTTTGACCAGACTTTTCAA	0.408																																					p.Q211R		.											.	CLUL1-92	0			c.A632G						.	A	ARG/GLN,ARG/GLN	0,3766		0,0,1883	203.0	188.0	192.0		632,632	3.3	0.9	18		192	1,8251		0,1,4125	no	missense,missense	CLUL1	NM_014410.4,NM_199167.1	43,43	0,1,6008	GG,GA,AA		0.0121,0.0,0.0083	possibly-damaging,possibly-damaging	211/467,211/467	627305	1,12017	1883	4126	6009	SO:0001583	missense	27098	exon5			TTGACCAGACTTT	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.632A>G	18.37:g.627305A>G	ENSP00000383449:p.Gln211Arg	147	1		128	57	NM_199167	0	0	0	0	0	A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.141221	0.37825	0.0	1.21E-4	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.22945	1.93;1.93;1.93	5.86	3.31	0.37934	Clusterin, N-terminal (1);	0.445754	0.25948	N	0.027267	T	0.36303	0.0962	L	0.53249	1.67	0.32372	N	0.555669	D;D	0.63046	0.992;0.982	P;P	0.57720	0.826;0.824	T	0.46762	-0.9168	10	0.49607	T	0.09	-4.9257	8.9113	0.35555	0.7426:0.1317:0.0:0.1257	.	263;211	F5GWQ8;Q15846	.;CLUL1_HUMAN	R	211;263;211	ENSP00000383449:Q211R;ENSP00000441726:Q263R;ENSP00000341128:Q211R	ENSP00000341128:Q211R	Q	+	2	0	CLUL1	617305	0.999000	0.42202	0.939000	0.37840	0.767000	0.43475	3.675000	0.54605	1.016000	0.39470	0.459000	0.35465	CAG	.		0.408	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1		
MYOM1	8736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	3067394	3067394	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:3067394C>A	ENST00000356443.4	-	38	5257	c.4924G>T	c.(4924-4926)Ggc>Tgc	p.G1642C	MYOM1_ENST00000261606.7_Missense_Mutation_p.G1546C|MYOM1_ENST00000400569.3_Missense_Mutation_p.G1642C	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1642	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCGTATTTGCCCGAGTCAGCG	0.602																																					p.G1642C		.											.	MYOM1-94	0			c.G4924T						.						76.0	80.0	78.0					18																	3067394		2203	4300	6503	SO:0001583	missense	8736	exon38			ATTTGCCCGAGTC	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4924G>T	18.37:g.3067394C>A	ENSP00000348821:p.Gly1642Cys	126	0		166	39	NM_003803	0	0	0	0	0	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979140	0.92982	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.77750	-1.12;-1.12;-1.12	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94558	0.8247	H	0.99811	4.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96854	0.9627	10	0.87932	D	0	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	1546;1642	P52179-2;P52179	.;MYOM1_HUMAN	C	1642;1642;1546	ENSP00000348821:G1642C;ENSP00000383413:G1642C;ENSP00000261606:G1546C	ENSP00000261606:G1546C	G	-	1	0	MYOM1	3057394	1.000000	0.71417	0.962000	0.40283	0.750000	0.42670	7.818000	0.86416	2.734000	0.93682	0.655000	0.94253	GGC	.		0.602	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
C18orf42	642597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	5145576	5145576	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:5145576C>G	ENST00000434239.3	-	2	366	c.195G>C	c.(193-195)aaG>aaC	p.K65N	C18orf42_ENST00000580650.1_Missense_Mutation_p.K72N	NM_001145194.1	NP_001138666.1	P0CW23	CR042_HUMAN	chromosome 18 open reading frame 42	65																	TCTTTTCGTGCTTCTTGGTTA	0.488																																					p.K65N		.											.	.	0			c.G195C						.						264.0	225.0	237.0					18																	5145576		692	1591	2283	SO:0001583	missense	642597	exon2			TTCGTGCTTCTTG		CCDS54179.1	18p11.31	2012-10-24			ENSG00000231824	ENSG00000231824			28285	protein-coding gene	gene with protein product							Standard	NM_001145194		Approved		uc010wzc.1	P0CW23	OTTHUMG00000178457	ENST00000434239.3:c.195G>C	18.37:g.5145576C>G	ENSP00000399075:p.Lys65Asn	221	0		196	43	NM_001145194	0	0	0	0	0		Missense_Mutation	SNP	ENST00000434239.3	37	CCDS54179.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090424	0.36855	.	.	ENSG00000231824	ENST00000434239	.	.	.	5.62	1.18	0.20946	.	.	.	.	.	T	0.45478	0.1344	.	.	.	0.26468	N	0.975324	D	0.59357	0.985	P	0.54270	0.747	T	0.29671	-1.0004	7	0.52906	T	0.07	.	4.7165	0.12898	0.1372:0.5176:0.0:0.3452	.	65	P0CW23	CR042_HUMAN	N	65	.	ENSP00000399075:K65N	K	-	3	2	C18orf42	5135576	1.000000	0.71417	0.976000	0.42696	0.739000	0.42172	0.634000	0.24614	0.137000	0.18759	-0.150000	0.13652	AAG	.		0.488	C18orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442071.1	NM_001145194	
LAMA1	284217	broad.mit.edu;bcgsc.ca	37	18	6986199	6986199	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:6986199C>G	ENST00000389658.3	-	37	5409	c.5316G>C	c.(5314-5316)gaG>gaC	p.E1772D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1772	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCATCTTTGCCTCAGCTTCCC	0.483																																					p.E1772D		.											.	LAMA1-149	0			c.G5316C						.						209.0	178.0	188.0					18																	6986199		2203	4300	6503	SO:0001583	missense	284217	exon37			CTTTGCCTCAGCT	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5316G>C	18.37:g.6986199C>G	ENSP00000374309:p.Glu1772Asp	87	2		90	31	NM_005559	0	0	0	0	0		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	c	4.837	0.155607	0.09236	.	.	ENSG00000101680	ENST00000389658	T	0.10192	2.9	5.18	2.02	0.26589	Laminin I (1);	0.815221	0.11051	N	0.605098	T	0.08846	0.0219	L	0.51422	1.61	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.46428	-0.9192	10	0.13108	T	0.6	.	3.7693	0.08635	0.387:0.3825:0.15:0.0804	.	1772	P25391	LAMA1_HUMAN	D	1772	ENSP00000374309:E1772D	ENSP00000374309:E1772D	E	-	3	2	LAMA1	6976199	0.000000	0.05858	0.003000	0.11579	0.073000	0.16967	0.009000	0.13219	0.093000	0.17368	0.650000	0.86243	GAG	.		0.483	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
ANKRD12	23253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	9258888	9258888	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:9258888C>G	ENST00000262126.4	+	9	5863	c.5623C>G	c.(5623-5625)Ctc>Gtc	p.L1875V	ANKRD12_ENST00000400020.3_Missense_Mutation_p.L1852V|ANKRD12_ENST00000383440.2_Missense_Mutation_p.L1852V|RP11-888D10.4_ENST00000609701.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1875						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L1875I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CGGATCATATCTCCTGGATGG	0.368																																					p.L1875V		.											.	ANKRD12-92	1	Substitution - Missense(1)	large_intestine(1)	c.C5623G						.						100.0	97.0	98.0					18																	9258888		2201	4299	6500	SO:0001583	missense	23253	exon9			TCATATCTCCTGG	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5623C>G	18.37:g.9258888C>G	ENSP00000262126:p.Leu1875Val	177	0		164	45	NM_015208	0	0	0	0	0	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014634	0.75161	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.69306	-0.39;-0.39	5.44	5.44	0.79542	.	0.072465	0.64402	D	0.000020	T	0.76751	0.4031	L	0.38838	1.175	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.991	T	0.77988	-0.2380	10	0.66056	D	0.02	-5.1253	19.6223	0.95663	0.0:1.0:0.0:0.0	.	1852;1875	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	V	1852;1875	ENSP00000372932:L1852V;ENSP00000262126:L1875V	ENSP00000262126:L1875V	L	+	1	0	ANKRD12	9248888	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.781000	0.62389	2.707000	0.92482	0.655000	0.94253	CTC	.		0.368	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
TXNDC2	84203	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	9886692	9886692	+	Silent	SNP	G	G	T	rs114777727	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:9886692G>T	ENST00000306084.6	+	2	415	c.216G>T	c.(214-216)acG>acT	p.T72T	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Silent_p.T5T|TXNDC2_ENST00000536353.2_Silent_p.T5T	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	72					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCAGCCACACGTTCCACATGC	0.567																																					p.T72T		.											.	TXNDC2-92	0			c.G216T						.						120.0	89.0	99.0					18																	9886692		2203	4300	6503	SO:0001819	synonymous_variant	84203	exon2			CCACACGTTCCAC	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.216G>T	18.37:g.9886692G>T		109	0		98	46	NM_001098529	0	0	0	0	0	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	CCDS42414.1																																																																																			G|0.996;A|0.004		0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1		
CIDEA	1149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	12277152	12277152	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:12277152C>A	ENST00000320477.9	+	5	608	c.543C>A	c.(541-543)gcC>gcA	p.A181A	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	181					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CCTACTCCGCCCAGGTGACGG	0.577																																					p.A181A		.											.	CIDEA-91	0			c.C543A						.						102.0	88.0	93.0					18																	12277152		2203	4300	6503	SO:0001819	synonymous_variant	1149	exon5			CTCCGCCCAGGTG	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.543C>A	18.37:g.12277152C>A		140	0		132	63	NM_001279	0	0	0	0	0	B0YIY7|Q6UPR7	Silent	SNP	ENST00000320477.9	37	CCDS11856.1																																																																																			.		0.577	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279	
PTPN2	5771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	12817252	12817252	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:12817252C>A	ENST00000309660.5	-	6	701	c.608G>T	c.(607-609)gGc>gTc	p.G203V	PTPN2_ENST00000591497.1_Missense_Mutation_p.G174V|PTPN2_ENST00000353319.4_Missense_Mutation_p.G203V|PTPN2_ENST00000591115.1_Missense_Mutation_p.G226V|PTPN2_ENST00000327283.3_Missense_Mutation_p.G203V	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	203	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GTTCAAGGAGCCAGATTCTCT	0.463																																					p.G226V		.											.	PTPN2-652	0			c.G677T						.						88.0	90.0	89.0					18																	12817252		2203	4300	6503	SO:0001583	missense	5771	exon7			AAGGAGCCAGATT	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.608G>T	18.37:g.12817252C>A	ENSP00000311857:p.Gly203Val	204	0		203	93	NM_001207013	0	0	0	0	0	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778174	0.90195	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.83075	-1.68;-1.68;-1.68	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.56097	D	0.000038	D	0.90283	0.6961	M	0.62088	1.915	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0	D	0.91132	0.4938	10	0.87932	D	0	.	18.8968	0.92426	0.0:1.0:0.0:0.0	.	203;203;180;203;203	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	V	203;203;180;203	ENSP00000320298:G203V;ENSP00000320546:G203V;ENSP00000311857:G203V	ENSP00000311857:G203V	G	-	2	0	PTPN2	12807252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.928000	0.70088	2.447000	0.82792	0.591000	0.81541	GGC	.		0.463	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423	
POTEC	388468	broad.mit.edu;bcgsc.ca	37	18	14533178	14533178	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:14533178C>T	ENST00000358970.5	-	5	936	c.937G>A	c.(937-939)Gta>Ata	p.V313I	RNU6-1021P_ENST00000363262.1_RNA|POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	313										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCACAACATACAGCAAGTATG	0.343																																					p.V313I		.											.	POTEC-3	0			c.G937A						.																																			SO:0001583	missense	388468	exon5			AACATACAGCAAG	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.937G>A	18.37:g.14533178C>T	ENSP00000351856:p.Val313Ile	649	2		530	194	NM_001137671	0	0	0	0	0		Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	6.181	0.401577	0.11696	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.64438	-0.1	1.09	1.09	0.20402	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.59404	0.2191	N	0.17564	0.495	0.09310	N	1	D	0.54601	0.967	D	0.70716	0.97	T	0.46190	-0.9209	9	0.52906	T	0.07	.	5.5934	0.17313	0.0:1.0:0.0:0.0	.	313	B2RU33	POTEC_HUMAN	I	313	ENSP00000351856:V313I	ENSP00000351856:V313I	V	-	1	0	POTEC	14523178	0.643000	0.27269	0.563000	0.28383	0.022000	0.10575	0.251000	0.18257	0.927000	0.37143	0.194000	0.17425	GTA	.		0.343	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
ANKRD30B	374860	broad.mit.edu;bcgsc.ca;mdanderson.org	37	18	14748439	14748439	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:14748439C>A	ENST00000358984.4	+	1	201	c.21C>A	c.(19-21)gcC>gcA	p.A7A	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.A7A	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	7										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TCTTAGCTGCCGCTGGCAAGG	0.682																																					p.A7A		.											.	ANKRD30B-24	0			c.C21A						.						10.0	15.0	13.0					18																	14748439		692	1586	2278	SO:0001819	synonymous_variant	374860	exon1			AGCTGCCGCTGGC	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.21C>A	18.37:g.14748439C>A		59	1		94	27	NM_001145029	0	0	0	0	0	B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	CCDS54182.1																																																																																			.		0.682	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
ANKRD30B	374860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	14787090	14787090	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:14787090G>T	ENST00000358984.4	+	15	1905	c.1725G>T	c.(1723-1725)tgG>tgT	p.W575C	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.W575C	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	575										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAATTCTTGGGATTCTGAGG	0.318																																					p.W575C		.											.	ANKRD30B-24	0			c.G1725T						.						167.0	142.0	150.0					18																	14787090		692	1585	2277	SO:0001583	missense	374860	exon15			TTCTTGGGATTCT	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.1725G>T	18.37:g.14787090G>T	ENSP00000351875:p.Trp575Cys	154	0		132	52	NM_001145029	0	0	0	0	0	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	8.706	0.910837	0.17833	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.06294	3.32;3.32	1.15	1.15	0.20763	.	.	.	.	.	T	0.06872	0.0175	L	0.61218	1.895	0.37515	D	0.917298	D	0.55605	0.972	B	0.40825	0.341	T	0.41124	-0.9526	9	0.42905	T	0.14	.	5.7266	0.18017	0.0:0.0:1.0:0.0	.	575	F8WAG3	.	C	575	ENSP00000351875:W575C;ENSP00000399031:W575C	ENSP00000351875:W575C	W	+	3	0	ANKRD30B	14777090	0.993000	0.37304	0.731000	0.30826	0.007000	0.05969	1.235000	0.32671	0.948000	0.37687	0.289000	0.19496	TGG	.		0.318	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
ANKRD30B	374860	broad.mit.edu;bcgsc.ca;mdanderson.org	37	18	14851981	14851981	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:14851981G>A	ENST00000358984.4	+	36	3861	c.3681G>A	c.(3679-3681)gaG>gaA	p.E1227E		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1227										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATAACAATGAGGTGCTCCATC	0.358																																					p.E1227E		.											.	ANKRD30B-24	0			c.G3681A						.						8.0	9.0	8.0					18																	14851981		690	1576	2266	SO:0001819	synonymous_variant	374860	exon36			CAATGAGGTGCTC	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.3681G>A	18.37:g.14851981G>A		234	0		173	40	NM_001145029	0	0	0	0	0	B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	CCDS54182.1																																																																																			.		0.358	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
GREB1L	80000	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	18975392	18975392	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:18975392G>A	ENST00000580732.2	+	5	783	c.402G>A	c.(400-402)atG>atA	p.M134I	GREB1L_ENST00000578368.1_3'UTR|GREB1L_ENST00000400483.4_Missense_Mutation_p.M134I|GREB1L_ENST00000269218.6_Missense_Mutation_p.M134I|GREB1L_ENST00000424526.1_Missense_Mutation_p.M134I|GREB1L_ENST00000431264.1_Missense_Mutation_p.M134I|RP11-296E23.1_ENST00000584611.1_RNA			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	134						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						CACTGTGTATGGAACAAATTG	0.423																																					p.M134I		.											.	.	0			c.G402A						.						120.0	106.0	110.0					18																	18975392		692	1591	2283	SO:0001583	missense	80000	exon5			GTGTATGGAACAA	AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.402G>A	18.37:g.18975392G>A	ENSP00000464162:p.Met134Ile	92	2		96	32	NM_001142966	0	0	0	0	0	A4QN17|Q9H8F1	Missense_Mutation	SNP	ENST00000580732.2	37	CCDS45836.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961251	0.53400	.	.	ENSG00000141449	ENST00000424526;ENST00000269218;ENST00000400483;ENST00000431264	T;T;T;T	0.13657	3.31;3.31;2.57;2.57	4.99	4.99	0.66335	.	.	.	.	.	T	0.11707	0.0285	L	0.29908	0.895	0.33481	D	0.587509	B;B	0.26547	0.082;0.152	B;B	0.25140	0.058;0.037	T	0.06789	-1.0807	9	0.54805	T	0.06	.	11.8758	0.52546	0.0795:0.0:0.9205:0.0	.	134;134	Q9C091;Q9C091-2	GRB1L_HUMAN;.	I	134	ENSP00000412060:M134I;ENSP00000269218:M134I;ENSP00000383331:M134I;ENSP00000393125:M134I	ENSP00000269218:M134I	M	+	3	0	GREB1L	17229390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.668000	0.54554	2.590000	0.87494	0.563000	0.77884	ATG	.		0.423	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443782.2	NM_024935	
TTC39C	125488	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	21646036	21646036	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:21646036A>G	ENST00000317571.3	+	3	513	c.277A>G	c.(277-279)Aca>Gca	p.T93A	TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Missense_Mutation_p.T32A	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	93										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CTTAAAAACCACAGAAAAACT	0.348																																					p.T93A		.											.	TTC39C-91	0			c.A277G						.						101.0	109.0	106.0					18																	21646036		2203	4300	6503	SO:0001583	missense	125488	exon3			AAAACCACAGAAA	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.277A>G	18.37:g.21646036A>G	ENSP00000323645:p.Thr93Ala	183	0		151	73	NM_001135993	0	0	0	0	0	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.081862	0.76528	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.29655	1.56;1.56	5.24	5.24	0.73138	.	0.044651	0.85682	N	0.000000	T	0.32102	0.0818	L	0.58669	1.825	0.80722	D	1	P	0.41498	0.752	B	0.42462	0.388	T	0.08848	-1.0702	10	0.07990	T	0.79	2.6247	15.4157	0.74966	1.0:0.0:0.0:0.0	.	93	Q8N584	TT39C_HUMAN	A	32;93	ENSP00000306598:T32A;ENSP00000323645:T93A	ENSP00000306598:T32A	T	+	1	0	TTC39C	19900034	1.000000	0.71417	0.984000	0.44739	0.905000	0.53344	8.762000	0.91711	2.111000	0.64477	0.533000	0.62120	ACA	.		0.348	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211	
SS18	6760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	23615884	23615884	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:23615884T>C	ENST00000415083.2	-	8	939	c.884A>G	c.(883-885)cAt>cGt	p.H295R	SS18_ENST00000545952.1_Intron|SS18_ENST00000542743.1_Intron|SS18_ENST00000542420.2_Missense_Mutation_p.H272R|SS18_ENST00000539849.1_Missense_Mutation_p.H213R|SS18_ENST00000269137.7_Intron	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	295	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTAATCATTATGACCTACATC	0.363			T	"""SSX1,  SSX2"""	synovial sarcoma																																p.H295R		.		Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	.	SS18-1968	0			c.A884G						.						113.0	85.0	95.0					18																	23615884		2203	4300	6503	SO:0001583	missense	6760	exon8			TCATTATGACCTA	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.884A>G	18.37:g.23615884T>C	ENSP00000414516:p.His295Arg	69	0		51	20	NM_001007559	0	0	0	0	0	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524738	0.64747	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000542420;ENST00000539849;ENST00000539244	T;T	0.34667	1.38;1.35	5.76	5.76	0.90799	.	0.058098	0.64402	D	0.000001	T	0.41096	0.1144	L	0.42245	1.32	0.53005	D	0.999961	P	0.51653	0.947	P	0.51229	0.663	T	0.10314	-1.0635	10	0.16896	T	0.51	-19.6325	16.0796	0.80995	0.0:0.0:0.0:1.0	.	295	Q15532	SSXT_HUMAN	R	298;295;272;213;10	ENSP00000438066:H272R;ENSP00000444647:H213R	ENSP00000269138:H295R	H	-	2	0	SS18	21869882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.206000	0.65192	2.199000	0.70637	0.477000	0.44152	CAT	.		0.363	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1		
CDH2	1000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	25565561	25565561	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:25565561G>T	ENST00000269141.3	-	12	2329	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T	CDH2_ENST00000399380.3_Missense_Mutation_p.P605T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	636	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAAGCAAATGGTCCAGCATTT	0.378																																					p.P636T		.											.	CDH2-525	0			c.C1906A						.						88.0	87.0	87.0					18																	25565561		2203	4300	6503	SO:0001583	missense	1000	exon12			CAAATGGTCCAGC	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1906C>A	18.37:g.25565561G>T	ENSP00000269141:p.Pro636Thr	96	0		87	17	NM_001792	0	0	0	0	0	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182661	0.57800	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.52526	0.66;0.66	5.96	5.96	0.96718	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	H	0.95780	3.72	0.80722	D	1	P;P	0.48998	0.918;0.632	P;B	0.44561	0.453;0.282	T	0.79522	-0.1769	10	0.87932	D	0	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	605;636	A8MWK3;P19022	.;CADH2_HUMAN	T	636;605	ENSP00000269141:P636T;ENSP00000382312:P605T	ENSP00000269141:P636T	P	-	1	0	CDH2	23819559	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	9.414000	0.97362	2.830000	0.97506	0.585000	0.79938	CCA	.		0.378	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
CDH2	1000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	25593747	25593747	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:25593747G>T	ENST00000269141.3	-	3	722	c.299C>A	c.(298-300)gCc>gAc	p.A100D	CDH2_ENST00000399380.3_Missense_Mutation_p.A69D	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	100					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGGAACTTGGCATGCTCAGA	0.458																																					p.A100D		.											.	CDH2-525	0			c.C299A						.						186.0	171.0	176.0					18																	25593747		2203	4300	6503	SO:0001583	missense	1000	exon3			AACTTGGCATGCT	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.299C>A	18.37:g.25593747G>T	ENSP00000269141:p.Ala100Asp	77	0		75	19	NM_001792	0	0	0	0	0	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816394	0.70912	.	.	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492;ENST00000430882;ENST00000413878	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.88	5.55	5.55	0.83447	Cadherin prodomain-like (1);Cadherin-like (1);	0.217070	0.47852	D	0.000203	T	0.65396	0.2687	L	0.48642	1.525	0.33878	D	0.635812	P;P	0.38129	0.619;0.549	P;B	0.52267	0.694;0.326	T	0.64037	-0.6501	10	0.13108	T	0.6	.	19.4929	0.95059	0.0:0.0:1.0:0.0	.	69;100	A8MWK3;P19022	.;CADH2_HUMAN	D	100;69;49;15;15	ENSP00000269141:A100D;ENSP00000382312:A69D;ENSP00000411360:A49D;ENSP00000412120:A15D;ENSP00000414269:A15D	ENSP00000269141:A100D	A	-	2	0	CDH2	23847745	0.997000	0.39634	0.022000	0.16811	0.995000	0.86356	7.659000	0.83766	2.616000	0.88540	0.585000	0.79938	GCC	.		0.458	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
DSG1	1828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	28906904	28906904	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:28906904G>T	ENST00000257192.4	+	3	364	c.152G>T	c.(151-153)tGg>tTg	p.W51L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAACGTGAATGGATCAAGTTC	0.388																																					p.W51L		.											.	DSG1-519	0			c.G152T						.						121.0	116.0	117.0					18																	28906904		2203	4300	6503	SO:0001583	missense	1828	exon3			GTGAATGGATCAA	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.152G>T	18.37:g.28906904G>T	ENSP00000257192:p.Trp51Leu	461	1		355	155	NM_001942	0	0	0	0	0	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498333	0.85069	.	.	ENSG00000134760	ENST00000257192	T	0.66099	-0.19	5.53	5.53	0.82687	Cadherin-like (1);	0.000000	0.53938	D	0.000047	D	0.85750	0.5769	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89414	0.3705	10	0.87932	D	0	.	19.4571	0.94897	0.0:0.0:1.0:0.0	.	51	Q02413	DSG1_HUMAN	L	51	ENSP00000257192:W51L	ENSP00000257192:W51L	W	+	2	0	DSG1	27160902	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.473000	0.73572	2.597000	0.87782	0.557000	0.71058	TGG	.		0.388	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
DSG3	1830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	29049291	29049291	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:29049291C>T	ENST00000257189.4	+	12	1959	c.1876C>T	c.(1876-1878)Ctt>Ttt	p.L626F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	626					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTGCTGCTCCTTGGTCTCCT	0.592																																					p.L626F		.											.	DSG3-98	0			c.C1876T						.						39.0	42.0	41.0					18																	29049291		2203	4300	6503	SO:0001583	missense	1830	exon12			CTGCTCCTTGGTC	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1876C>T	18.37:g.29049291C>T	ENSP00000257189:p.Leu626Phe	70	0		88	35	NM_001944	0	0	0	0	0	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970759	0.74246	.	.	ENSG00000134757	ENST00000257189	T	0.57436	0.4	5.76	4.9	0.64082	.	0.000000	0.42172	D	0.000742	T	0.60521	0.2275	L	0.61036	1.89	0.09310	N	1	P	0.49783	0.928	P	0.58013	0.831	T	0.56390	-0.7987	10	0.56958	D	0.05	.	5.578	0.17235	0.1605:0.6783:0.0:0.1612	.	626	P32926	DSG3_HUMAN	F	626	ENSP00000257189:L626F	ENSP00000257189:L626F	L	+	1	0	DSG3	27303289	0.077000	0.21312	0.042000	0.18584	0.712000	0.41017	0.650000	0.24858	1.449000	0.47699	0.591000	0.81541	CTT	.		0.592	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
KLHL14	57565	broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	30350407	30350407	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:30350407C>T	ENST00000359358.4	-	2	586	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.V50M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	50	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAGGCCAGCACGGCCTTGTGG	0.677																																					p.V50M		.											.	KLHL14-91	0			c.G148A						.						49.0	40.0	43.0					18																	30350407		2203	4297	6500	SO:0001583	missense	57565	exon2			CCAGCACGGCCTT	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.148G>A	18.37:g.30350407C>T	ENSP00000352314:p.Val50Met	78	1		100	31	NM_020805	0	0	0	0	0	A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	9.868	1.198278	0.22037	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.73681	-0.77;-0.77	4.14	3.26	0.37387	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.198050	0.42420	N	0.000702	T	0.70894	0.3276	M	0.70275	2.135	0.52099	D	0.99994	B	0.16802	0.019	B	0.12837	0.008	T	0.68405	-0.5417	10	0.48119	T	0.1	.	10.8614	0.46829	0.0:0.9067:0.0:0.0933	.	50	Q9P2G3	KLH14_HUMAN	M	50	ENSP00000352314:V50M;ENSP00000350808:V50M	ENSP00000350808:V50M	V	-	1	0	KLHL14	28604405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.467000	0.80930	0.943000	0.37553	0.460000	0.39030	GTG	.		0.677	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1		
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	31323338	31323338	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:31323338C>A	ENST00000269197.5	+	12	3526	c.3526C>A	c.(3526-3528)Cgg>Agg	p.R1176R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1176					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						TGCCCACCTCCGGGAGACCAC	0.443																																					p.R1176R		.											.	ASXL3-49	0			c.C3526A						.						44.0	43.0	43.0					18																	31323338		1917	4131	6048	SO:0001819	synonymous_variant	80816	exon12			CACCTCCGGGAGA	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.3526C>A	18.37:g.31323338C>A		58	0		42	24	NM_030632	0	0	0	0	0	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	CCDS45847.1																																																																																			.		0.443	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	31325189	31325189	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:31325189G>C	ENST00000269197.5	+	12	5377	c.5377G>C	c.(5377-5379)Gag>Cag	p.E1793Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1793					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						AACAGCACCAGAGAGAAACGT	0.488																																					p.E1793Q		.											.	ASXL3-49	0			c.G5377C						.						70.0	70.0	70.0					18																	31325189		1894	4124	6018	SO:0001583	missense	80816	exon12			GCACCAGAGAGAA	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.5377G>C	18.37:g.31325189G>C	ENSP00000269197:p.Glu1793Gln	93	0		65	11	NM_030632	0	0	0	0	0	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663192	0.47572	.	.	ENSG00000141431	ENST00000269197	T	0.18174	2.23	5.7	5.7	0.88788	.	.	.	.	.	T	0.19525	0.0469	N	0.24115	0.695	0.31181	N	0.702038	D	0.54397	0.966	P	0.46479	0.518	T	0.01829	-1.1265	9	0.54805	T	0.06	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	1793	Q9C0F0	ASXL3_HUMAN	Q	1793	ENSP00000269197:E1793Q	ENSP00000269197:E1793Q	E	+	1	0	ASXL3	29579187	1.000000	0.71417	0.953000	0.39169	0.708000	0.40852	4.103000	0.57783	2.698000	0.92095	0.655000	0.94253	GAG	.		0.488	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
DTNA	1837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	32431876	32431876	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:32431876C>A	ENST00000399113.3	+	14	1435	c.1435C>A	c.(1435-1437)Cta>Ata	p.L479I	DTNA_ENST00000283365.9_Missense_Mutation_p.L422I|DTNA_ENST00000597674.1_Missense_Mutation_p.L101I|DTNA_ENST00000399097.3_Missense_Mutation_p.L127I|DTNA_ENST00000598334.1_Missense_Mutation_p.L419I|DTNA_ENST00000595022.1_Missense_Mutation_p.L419I|DTNA_ENST00000556414.3_Missense_Mutation_p.L131I|DTNA_ENST00000269191.6_Missense_Mutation_p.L479I|DTNA_ENST00000348997.5_Missense_Mutation_p.L476I|DTNA_ENST00000444659.1_Missense_Mutation_p.L479I|DTNA_ENST00000597599.1_Missense_Mutation_p.L419I|DTNA_ENST00000598142.1_Missense_Mutation_p.L422I|DTNA_ENST00000399121.5_Missense_Mutation_p.L419I|DTNA_ENST00000598774.1_Missense_Mutation_p.L422I|DTNA_ENST00000599844.1_Missense_Mutation_p.L101I|DTNA_ENST00000591182.1_Missense_Mutation_p.L127I|DTNA_ENST00000596745.1_Missense_Mutation_p.L229I|DTNA_ENST00000269192.7_Missense_Mutation_p.L188I|DTNA_ENST00000269190.7_Missense_Mutation_p.L480I|DTNA_ENST00000601125.1_Missense_Mutation_p.L101I			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	479					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATTGCTGAGCTAGAAAACAA	0.438																																					p.L479I		.											.	DTNA-153	0			c.C1435A						.						89.0	71.0	77.0					18																	32431876		2203	4300	6503	SO:0001583	missense	1837	exon14			GCTGAGCTAGAAA	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1435C>A	18.37:g.32431876C>A	ENSP00000382064:p.Leu479Ile	195	0		204	93	NM_001390	0	0	0	0	0	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076440	0.94000	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	D;D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.94768	0.8311	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.986;0.999;0.999;0.997;0.998;1.0;1.0;0.993;0.998;1.0;1.0;1.0;0.974	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.965;0.999;0.997;0.992;0.997;0.984;0.989;0.99;0.997;0.984;0.986;0.984;0.953	D	0.94830	0.7995	10	0.87932	D	0	-7.9593	19.7728	0.96373	0.0:1.0:0.0:0.0	.	131;188;169;229;101;479;479;419;422;127;476;419;430;422;422	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	I	422;422;419;480;127;476;479;479;479;479;188;127;131	ENSP00000283365:L422I;ENSP00000269190:L480I;ENSP00000382048:L127I;ENSP00000336682:L476I;ENSP00000405819:L479I;ENSP00000269191:L479I;ENSP00000382064:L479I;ENSP00000269192:L188I;ENSP00000452255:L131I	ENSP00000269190:L480I	L	+	1	2	DTNA	30685874	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.763000	0.68818	2.687000	0.91594	0.655000	0.94253	CTA	.		0.438	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390	
ZNF271	10778	broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	32889587	32889587	+	RNA	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:32889587G>T	ENST00000399070.3	+	0	3981					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						ggtactaggagggtggtgtac	0.448																																					.		.											.	ZNF271-90	0			.						.																																					10778	.			CTAGGAGGGTGGT	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32889587G>T		117	1		124	55	.	0	0	0	0	0	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	ENST00000399070.3	37																																																																																				.		0.448	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565	
FHOD3	80206	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	34297943	34297943	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:34297943G>T	ENST00000359247.4	+	15	2106	c.2106G>T	c.(2104-2106)agG>agT	p.R702S	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000590592.1_Missense_Mutation_p.R894S|FHOD3_ENST00000445677.1_Missense_Mutation_p.R681S|FHOD3_ENST00000257209.4_Missense_Mutation_p.R719S	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	702					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGCTGGGAGGACCCAGCAGG	0.582																																					p.R719S		.											.	FHOD3-139	0			c.G2157T						.						65.0	59.0	61.0					18																	34297943		2203	4300	6503	SO:0001583	missense	80206	exon16			TGGGAGGACCCAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2106G>T	18.37:g.34297943G>T	ENSP00000352186:p.Arg702Ser	160	1		161	28	NM_025135	0	0	0	0	0	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	G	3.048	-0.195969	0.06259	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.28666	1.6;1.6;1.6	4.74	2.91	0.33838	.	0.853844	0.10635	N	0.651647	T	0.23289	0.0563	L	0.36672	1.1	0.09310	N	1	P;P;B	0.50943	0.94;0.664;0.001	P;B;B	0.44946	0.465;0.201;0.002	T	0.06391	-1.0829	10	0.11485	T	0.65	.	5.9006	0.18964	0.1738:0.1576:0.6686:0.0	.	681;702;719	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	S	719;702;681	ENSP00000257209:R719S;ENSP00000352186:R702S;ENSP00000411430:R681S	ENSP00000257209:R719S	R	+	3	2	FHOD3	32551941	1.000000	0.71417	0.002000	0.10522	0.250000	0.25880	2.349000	0.44054	0.395000	0.25257	0.455000	0.32223	AGG	.		0.582	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
KIAA1328	57536	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	34646889	34646889	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:34646889G>C	ENST00000280020.5	+	7	635	c.613G>C	c.(613-615)Gtg>Ctg	p.V205L	KIAA1328_ENST00000543923.1_Missense_Mutation_p.V97L|KIAA1328_ENST00000586135.1_5'UTR|KIAA1328_ENST00000591619.1_Missense_Mutation_p.V201L|KIAA1328_ENST00000586501.1_5'UTR|KIAA1328_ENST00000435985.2_5'UTR	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	205										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GTGTTCATCTGTGGAACTGGA	0.428																																					p.V205L		.											.	KIAA1328-90	0			c.G613C						.						67.0	64.0	65.0					18																	34646889		1874	4104	5978	SO:0001583	missense	57536	exon7			TCATCTGTGGAAC	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.613G>C	18.37:g.34646889G>C	ENSP00000280020:p.Val205Leu	181	0		202	43	NM_020776	0	0	0	0	0	Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.604442	0.00849	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055	T;T	0.41065	1.01;1.01	6.17	-12.3	0.00002	.	2.347160	0.01088	N	0.005137	T	0.14356	0.0347	N	0.03608	-0.345	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12863	-1.0531	10	0.06099	T	0.92	.	8.8291	0.35074	0.0896:0.0747:0.5243:0.3114	.	205;205	A8K8C3;Q86T90	.;K1328_HUMAN	L	97;205;205	ENSP00000441359:V97L;ENSP00000280020:V205L	ENSP00000280020:V205L	V	+	1	0	KIAA1328	32900887	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-2.042000	0.01414	-4.448000	0.00048	-0.302000	0.09304	GTG	.		0.428	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776	
CELF4	56853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	34853088	34853088	+	Silent	SNP	C	C	G	rs372009828		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:34853088C>G	ENST00000591282.1	-	7	839	c.840G>C	c.(838-840)gcG>gcC	p.A280A	CELF4_ENST00000588597.1_Silent_p.A269A|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000591287.1_Silent_p.A279A|CELF4_ENST00000334919.5_Silent_p.A270A|CELF4_ENST00000361795.5_Silent_p.A278A|CELF4_ENST00000601019.1_Silent_p.A278A|CELF4_ENST00000420428.2_Silent_p.A280A|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000412753.1_Silent_p.A279A|CELF4_ENST00000603232.1_Silent_p.A279A			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	280	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGCCGCCCTGCGCGACTGATG	0.647																																					p.A280A		.											.	CELF4-92	0			c.G840C						.						38.0	42.0	41.0					18																	34853088		2203	4300	6503	SO:0001819	synonymous_variant	56853	exon7			GCCCTGCGCGACT	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.840G>C	18.37:g.34853088C>G		249	0		314	147	NM_020180	0	0	0	0	0	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	CCDS32818.1																																																																																			.		0.647	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180	
PIK3C3	5289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	39567811	39567811	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:39567811A>G	ENST00000262039.4	+	5	653	c.567A>G	c.(565-567)aaA>aaG	p.K189K	PIK3C3_ENST00000398870.3_Silent_p.K126K	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	189					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ACATGGTGAAAGTAGATTGGC	0.299										TSP Lung(28;0.18)																											p.K189K	NSCLC(37;552 1060 2683 16430 37914)	.											.	PIK3C3-1312	0			c.A567G						.						101.0	104.0	103.0					18																	39567811		2203	4300	6503	SO:0001819	synonymous_variant	5289	exon5			GGTGAAAGTAGAT	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.567A>G	18.37:g.39567811A>G		162	0		133	73	NM_002647	0	0	0	0	0	Q15134	Silent	SNP	ENST00000262039.4	37	CCDS11920.1																																																																																			.		0.299	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
SLC14A2	8170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	43207111	43207111	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:43207111A>T	ENST00000255226.6	+	4	1336	c.520A>T	c.(520-522)Agg>Tgg	p.R174W	SLC14A2_ENST00000586448.1_Splice_Site_p.R174W	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	174					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGCCAAGACAGGTGGGTCCC	0.527																																					p.R174W		.											.	SLC14A2-93	0			c.A520T						.						78.0	89.0	85.0					18																	43207111		2203	4300	6503	SO:0001630	splice_region_variant	8170	exon5			CAAGACAGGTGGG	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.521+1A>T	18.37:g.43207111A>T		86	0		120	22	NM_001242692	0	0	0	0	0	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307216	0.81247	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	T;T	0.54071	0.59;0.59	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82055	-0.0647	10	0.87932	D	0	-25.3637	15.2645	0.73651	1.0:0.0:0.0:0.0	.	174;174	Q15849;E7EPU1	UT2_HUMAN;.	W	174	ENSP00000255226:R174W;ENSP00000320689:R174W	ENSP00000255226:R174W	R	+	1	2	SLC14A2	41461109	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	6.482000	0.73613	2.194000	0.70268	0.460000	0.39030	AGG	.		0.527	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		Missense_Mutation
SLC14A2	8170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	43219733	43219733	+	Missense_Mutation	SNP	G	G	T	rs137884313		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:43219733G>T	ENST00000255226.6	+	7	1682	c.866G>T	c.(865-867)gGg>gTg	p.G289V	SLC14A2_ENST00000586448.1_Missense_Mutation_p.G289V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	289					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCCCTGTTGGGGTCGGCCAG	0.527																																					p.G289V		.											.	SLC14A2-93	0			c.G866T						.						164.0	147.0	153.0					18																	43219733		2203	4300	6503	SO:0001583	missense	8170	exon8			CTGTTGGGGTCGG	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.866G>T	18.37:g.43219733G>T	ENSP00000255226:p.Gly289Val	94	0		95	21	NM_001242692	0	0	0	0	0	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921900	0.92319	.	.	ENSG00000132874	ENST00000255226	T	0.63913	-0.07	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.85579	0.5729	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88940	0.3379	10	0.87932	D	0	-24.3604	19.3787	0.94523	0.0:0.0:1.0:0.0	.	289	Q15849	UT2_HUMAN	V	289	ENSP00000255226:G289V	ENSP00000255226:G289V	G	+	2	0	SLC14A2	41473731	1.000000	0.71417	0.878000	0.34440	0.922000	0.55478	9.176000	0.94839	2.884000	0.98904	0.655000	0.94253	GGG	G|1.000;A|0.000		0.527	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
SIGLEC15	284266	hgsc.bcm.edu	37	18	43417752	43417752	+	Silent	SNP	C	C	G	rs78530686	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:43417752C>G	ENST00000389474.3	+	3	604	c.387C>G	c.(385-387)gtC>gtG	p.V129V	SIGLEC15_ENST00000602118.2_Intron|SIGLEC15_ENST00000546268.1_5'UTR|SIGLEC15_ENST00000587418.1_5'Flank	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	129	Ig-like V-type.				cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CGCTGCGCGTCGAGCGCCTCG	0.746													C|||	1183	0.236222	0.0908	0.3674	5008	,	,		9688	0.37		0.1312	False		,,,				2504	0.3098				p.V129V		.											.	SIGLEC15-90	0			c.C387G						.	C		237,2763		5,227,1268	3.0	3.0	3.0		387	0.4	1.0	18	dbSNP_131	3	516,5864		10,496,2684	no	coding-synonymous	SIGLEC15	NM_213602.2		15,723,3952	GG,GC,CC		8.0878,7.9,8.0277		129/329	43417752	753,8627	1500	3190	4690	SO:0001819	synonymous_variant	284266	exon3			GCGCGTCGAGCGC	AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27596	protein-coding gene	gene with protein product			"""CD33 antigen-like 3"", ""CD33 molecule-like 3"""	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.387C>G	18.37:g.43417752C>G		0	0		5	5	NM_213602	0	0	0	0	0	A8K2Y5|B4DVQ9	Silent	SNP	ENST00000389474.3	37	CCDS32819.1																																																																																			C|0.786;G|0.214		0.746	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410768.2	NM_213602	
EPG5	57724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	43458387	43458387	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:43458387T>C	ENST00000282041.5	-	34	5930	c.5896A>G	c.(5896-5898)Att>Gtt	p.I1966V	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1966					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGAGCTGAATGATTACTGAA	0.323																																					p.I1966V		.											.	EPG5-580	0			c.A5896G						.						80.0	74.0	76.0					18																	43458387		1815	4065	5880	SO:0001583	missense	57724	exon34			GCTGAATGATTAC	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5896A>G	18.37:g.43458387T>C	ENSP00000282041:p.Ile1966Val	54	0		62	14	NM_020964	0	0	0	0	0	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.789338	0.00623	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.08984	3.03	5.99	0.581	0.17407	.	.	.	.	.	T	0.05502	0.0145	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43621	-0.9380	9	0.02654	T	1	-5.9899	11.3812	0.49759	0.0:0.2948:0.0:0.7052	.	1966	Q9HCE0	EPG5_HUMAN	V	1966;841	ENSP00000282041:I1966V	ENSP00000282041:I1966V	I	-	1	0	EPG5	41712385	0.994000	0.37717	0.536000	0.28039	0.260000	0.26232	0.103000	0.15292	0.174000	0.19809	-0.264000	0.10439	ATT	.		0.323	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
LOXHD1	125336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	44104755	44104755	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:44104755G>T	ENST00000398722.4	-	23	3821	c.3822C>A	c.(3820-3822)aaC>aaA	p.N1274K	LOXHD1_ENST00000536736.1_Missense_Mutation_p.N1552K|LOXHD1_ENST00000300591.6_Missense_Mutation_p.N441K|LOXHD1_ENST00000441551.2_Missense_Mutation_p.N1346K|LOXHD1_ENST00000582408.1_Missense_Mutation_p.N441K|LOXHD1_ENST00000441893.2_Missense_Mutation_p.N485K|LOXHD1_ENST00000579038.1_Missense_Mutation_p.N345K			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1274	PLAT 9. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						ACTCGTCCTCGTTGGTGTCAT	0.557																																					p.N1552K		.											.	.	0			c.C4656A						.						174.0	165.0	167.0					18																	44104755		692	1591	2283	SO:0001583	missense	125336	exon30			GTCCTCGTTGGTG	AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.3822C>A	18.37:g.44104755G>T	ENSP00000381707:p.Asn1274Lys	248	0		207	74	NM_144612	0	0	0	0	0	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	g	5.230	0.227875	0.09916	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000536736;ENST00000441893;ENST00000335730	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.96	-8.25	0.01025	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.203289	0.44483	D	0.000456	T	0.57373	0.2049	N	0.25789	0.76	0.25506	N	0.987508	P;D;D;D	0.76494	0.467;0.999;0.979;0.999	P;D;P;D	0.83275	0.542;0.996;0.455;0.996	T	0.62534	-0.6834	10	0.27785	T	0.31	.	12.1007	0.53783	0.6918:0.0858:0.2224:0.0	.	1552;485;1274;1274	F5GZB4;F8WA52;Q8IVV2-2;Q8IVV2	.;.;.;LOXH1_HUMAN	K	441;1274;1552;485;1274	ENSP00000300591:N441K;ENSP00000381707:N1274K;ENSP00000444586:N1552K;ENSP00000409062:N485K	ENSP00000300591:N441K	N	-	3	2	LOXHD1	42358753	0.000000	0.05858	0.720000	0.30636	0.106000	0.19336	-2.925000	0.00691	-1.792000	0.01259	-2.612000	0.00159	AAC	.		0.557	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
TCEB3B	51224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	44561326	44561326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:44561326G>A	ENST00000332567.4	-	1	662	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	104					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCTGGTCCTGAAGAGCCTCC	0.662																																					p.Q104X		.											.	TCEB3B-156	0			c.C310T						.						43.0	49.0	47.0					18																	44561326		2202	4297	6499	SO:0001587	stop_gained	51224	exon1			GGTCCTGAAGAGC	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.310C>T	18.37:g.44561326G>A	ENSP00000331302:p.Gln104*	52	0		66	36	NM_016427	0	0	0	0	0	Q9P2V9	Nonsense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388008	0.82902	.	.	ENSG00000206181	ENST00000332567	.	.	.	2.84	-3.19	0.05171	.	1.764920	0.03384	N	0.200867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-2.871	1.0295	0.01535	0.2265:0.3275:0.2798:0.1663	.	.	.	.	X	104	.	ENSP00000331302:Q104X	Q	-	1	0	TCEB3B	42815324	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.002000	0.13061	-0.777000	0.04572	0.558000	0.71614	CAG	.		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
ME2	4200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	48458690	48458690	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:48458690C>G	ENST00000321341.5	+	13	1649	c.1377C>G	c.(1375-1377)gtC>gtG	p.V459V	ME2_ENST00000585680.1_3'UTR|ME2_ENST00000382927.3_Silent_p.V459V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	459					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		ATGGGCGAGTCTTTACACCAG	0.333																																					p.V459V		.											.	ME2-90	0			c.C1377G						.						127.0	125.0	125.0					18																	48458690		2203	4300	6503	SO:0001819	synonymous_variant	4200	exon13			GCGAGTCTTTACA	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1377C>G	18.37:g.48458690C>G		185	0		151	23	NM_001168335	0	0	0	0	0	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Silent	SNP	ENST00000321341.5	37	CCDS11948.1																																																																																			.		0.333	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396	
MEX3C	51320	hgsc.bcm.edu	37	18	48723146	48723154	+	Intron	DEL	GCCGCCGCG	GCCGCCGCG	-	rs78074704|rs530394988|rs147438518|rs201868643|rs62092914|rs530602218	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GCCGCCGCG	GCCGCCGCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:48723146_48723154delGCCGCCGCG	ENST00000591040.1	-	2	43				MEX3C_ENST00000592416.1_5'Flank			Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CCccgccgccgccgccgcggccgccgccT	0.78																																					p.179_182del		.											.	MEX3C-659	0			c.537_545del						.			429,1467		144,141,663						-0.2	0.9		dbSNP_131	4	2100,2286		804,492,897	no	coding	MEX3C	NM_016626.4		948,633,1560	A1A1,A1R,RR		47.8796,22.6266,40.2579				2529,3753				SO:0001627	intron_variant	51320	exon1			GCCGCCGCCGCCG	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.757-19200CGCGGCGGC>-	18.37:g.48723146_48723154delGCCGCCGCG		1	1		28	21	NM_016626	0	0	0	0	0	A1L022|Q9NZE3	In_Frame_Del	DEL	ENST00000591040.1	37																																																																																				.		0.780	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626	
DCC	1630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	50278479	50278479	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:50278479C>G	ENST00000442544.2	+	2	763	c.147C>G	c.(145-147)gcC>gcG	p.A49A	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	49	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTCTGATGCCGTCACAATGC	0.483																																					p.A49A		.											.	DCC-225	0			c.C147G						.						60.0	60.0	60.0					18																	50278479		2203	4300	6503	SO:0001819	synonymous_variant	1630	exon2			TGATGCCGTCACA	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.147C>G	18.37:g.50278479C>G		66	0		57	8	NM_005215	0	0	0	0	0		Silent	SNP	ENST00000442544.2	37	CCDS11952.1																																																																																			.		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
DCC	1630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	50985607	50985607	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:50985607G>C	ENST00000442544.2	+	24	4014	c.3398G>C	c.(3397-3399)cGg>cCg	p.R1133P	DCC_ENST00000581580.1_Missense_Mutation_p.R768P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1133					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CATAGGAAACGGGCCACCCAC	0.443																																					p.R1133P		.											.	DCC-225	0			c.G3398C						.						51.0	50.0	50.0					18																	50985607		2203	4300	6503	SO:0001583	missense	1630	exon24			GGAAACGGGCCAC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3398G>C	18.37:g.50985607G>C	ENSP00000389140:p.Arg1133Pro	80	0		62	22	NM_005215	0	0	0	0	0		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448373	0.26074	.	.	ENSG00000187323	ENST00000442544	T	0.55234	0.53	5.93	5.93	0.95920	.	0.148193	0.43260	D	0.000595	T	0.70753	0.3260	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69308	-0.5179	10	0.54805	T	0.06	-8.3898	19.1254	0.93380	0.0:0.0:1.0:0.0	.	1133	P43146	DCC_HUMAN	P	1133	ENSP00000389140:R1133P	ENSP00000389140:R1133P	R	+	2	0	DCC	49239605	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	7.376000	0.79658	2.826000	0.97356	0.655000	0.94253	CGG	.		0.443	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
RAX	30062	hgsc.bcm.edu	37	18	56936395	56936395	+	Silent	SNP	T	T	C	rs7226481	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:56936395T>C	ENST00000334889.3	-	3	1068	c.882A>G	c.(880-882)caA>caG	p.Q294Q	RAX_ENST00000256852.7_3'UTR	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	294					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	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)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GCGCGAGAGGTTGCAGGCCGG	0.771													C|||	1143	0.228235	0.2421	0.1671	5008	,	,		8659	0.129		0.3032	False		,,,				2504	0.2781				p.Q294Q	GBM(150;770 1898 17679 24325 37807)	.											.	RAX-90	0			c.A882G						.	C		688,3078		75,538,1270	4.0	6.0	5.0		882	2.2	0.3	18	dbSNP_116	5	1688,5834		233,1222,2306	no	coding-synonymous	RAX	NM_013435.2		308,1760,3576	CC,CT,TT		22.4408,18.2687,21.0489		294/347	56936395	2376,8912	1883	3761	5644	SO:0001819	synonymous_variant	30062	exon3			GAGAGGTTGCAGG	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"""Homeoboxes / PRD class"""	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.882A>G	18.37:g.56936395T>C		0	0		24	12	NM_013435	0	0	0	0	0	Q86V11	Silent	SNP	ENST00000334889.3	37	CCDS11972.1																																																																																			T|0.767;C|0.233		0.771	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2		
CDH20	28316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	59221763	59221763	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:59221763G>T	ENST00000262717.4	+	12	2639	c.2241G>T	c.(2239-2241)acG>acT	p.T747T	CDH20_ENST00000538374.1_Silent_p.T747T|CDH20_ENST00000536675.2_Silent_p.T747T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	747					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCCTCCAGACGTATATGTTCG	0.637																																					p.T747T		.											.	CDH20-155	0			c.G2241T						.						31.0	27.0	28.0					18																	59221763		2202	4300	6502	SO:0001819	synonymous_variant	28316	exon11			CCAGACGTATATG	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2241G>T	18.37:g.59221763G>T		83	0		115	54	NM_031891	0	0	0	0	0	Q495S3	Silent	SNP	ENST00000262717.4	37	CCDS11977.1																																																																																			.		0.637	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
TNFRSF11A	8792	broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	60036089	60036089	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:60036089A>G	ENST00000586569.1	+	9	977	c.939A>G	c.(937-939)gtA>gtG	p.V313V	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	313					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCACATGTGTAGGAGGTGGTC	0.517																																					p.V313V		.											.	TNFRSF11A-659	0			c.A939G						.						182.0	148.0	160.0					18																	60036089		2203	4300	6503	SO:0001819	synonymous_variant	8792	exon9			ATGTGTAGGAGGT	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.939A>G	18.37:g.60036089A>G		224	1		237	63	NM_003839	0	0	0	0	0	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	CCDS11980.1																																																																																			.		0.517	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2		
SERPINB7	8710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	61460444	61460444	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:61460444C>A	ENST00000398019.2	+	4	594	c.269C>A	c.(268-270)tCc>tAc	p.S90Y	SERPINB7_ENST00000540675.1_Missense_Mutation_p.S73Y|SERPINB7_ENST00000336429.2_Missense_Mutation_p.S90Y|SERPINB7_ENST00000546027.1_Missense_Mutation_p.S90Y	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	90					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATAAATGCATCCCACAAGGAT	0.353																																					p.S90Y		.											.	SERPINB7-226	0			c.C269A						.						111.0	103.0	106.0					18																	61460444		2203	4300	6503	SO:0001583	missense	8710	exon4			ATGCATCCCACAA	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.269C>A	18.37:g.61460444C>A	ENSP00000381101:p.Ser90Tyr	105	0		89	21	NM_001261830	0	0	0	0	0	B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580284	0.28180	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027;ENST00000431370	D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.9	4.01	0.46588	Serpin domain (3);	0.364008	0.24067	N	0.041859	D	0.85401	0.5688	M	0.81239	2.535	0.09310	N	0.999998	P;P	0.46327	0.85;0.876	B;P	0.44597	0.325;0.454	T	0.78809	-0.2058	10	0.66056	D	0.02	.	7.8546	0.29474	0.0:0.7281:0.0:0.2719	.	73;90	F5GZC0;O75635	.;SPB7_HUMAN	Y	90;90;90;73;90;90;90	ENSP00000397301:S90Y;ENSP00000337212:S90Y;ENSP00000381101:S90Y;ENSP00000444572:S73Y;ENSP00000402362:S90Y;ENSP00000444861:S90Y;ENSP00000393947:S90Y	ENSP00000337212:S90Y	S	+	2	0	SERPINB7	59611424	0.940000	0.31905	0.686000	0.30086	0.184000	0.23303	2.539000	0.45718	0.733000	0.32492	0.655000	0.94253	TCC	.		0.353	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784	
SERPINB8	5271	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	61654266	61654266	+	Missense_Mutation	SNP	C	C	A	rs146637081		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:61654266C>A	ENST00000397985.2	+	7	1135	c.879C>A	c.(877-879)gaC>gaA	p.D293E	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.D111E|SERPINB8_ENST00000353706.2_Missense_Mutation_p.D293E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	293					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ATGCTTTTGACGAAGCCAAGG	0.458																																					p.D293E		.											.	SERPINB8-226	0			c.C879A						.						116.0	102.0	107.0					18																	61654266		2203	4300	6503	SO:0001583	missense	5271	exon7			TTTTGACGAAGCC	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.879C>A	18.37:g.61654266C>A	ENSP00000381072:p.Asp293Glu	140	0		153	66	NM_198833	0	0	0	0	0	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	C	3.315	-0.140009	0.06669	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.82893	-1.66;-1.66;2.74	5.65	-6.94	0.01633	Serpin domain (3);	0.228496	0.50627	N	0.000113	T	0.53818	0.1820	N	0.13098	0.295	0.19775	N	0.999955	B	0.09022	0.002	B	0.17098	0.017	T	0.59204	-0.7498	10	0.05351	T	0.99	.	4.2916	0.10881	0.2262:0.457:0.1593:0.1575	.	293	P50452	SPB8_HUMAN	E	293;293;111	ENSP00000381072:D293E;ENSP00000331368:D293E;ENSP00000438328:D111E	ENSP00000331368:D293E	D	+	3	2	SERPINB8	59805246	0.000000	0.05858	0.607000	0.28956	0.828000	0.46876	-1.935000	0.01550	-1.416000	0.02019	-2.241000	0.00287	GAC	C|1.000;G|0.000		0.458	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848	
CDH7	1005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	63476945	63476945	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:63476945C>G	ENST00000397968.2	+	3	642	c.216C>G	c.(214-216)caC>caG	p.H72Q	CDH7_ENST00000536984.2_Missense_Mutation_p.H72Q|CDH7_ENST00000323011.3_Missense_Mutation_p.H72Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	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)				ACCAGCTTCACTCTGATGTTG	0.373																																					p.H72Q		.											.	CDH7-94	0			c.C216G						.						77.0	76.0	76.0					18																	63476945		2203	4300	6503	SO:0001583	missense	1005	exon3			GCTTCACTCTGAT	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.216C>G	18.37:g.63476945C>G	ENSP00000381058:p.His72Gln	108	0		94	40	NM_004361	0	0	0	0	0	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538834	0.65085	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.50548	0.74;0.74;0.74	5.94	5.07	0.68467	Cadherin (2);Cadherin-like (1);	0.242962	0.43260	D	0.000589	T	0.52092	0.1713	L	0.45285	1.41	0.58432	D	0.999999	P;D	0.54397	0.826;0.966	B;P	0.51550	0.291;0.673	T	0.56414	-0.7983	10	0.72032	D	0.01	.	15.1268	0.72489	0.0:0.9326:0.0:0.0674	.	72;72	F5H5X9;Q9ULB5	.;CADH7_HUMAN	Q	72	ENSP00000319166:H72Q;ENSP00000443030:H72Q;ENSP00000381058:H72Q	ENSP00000319166:H72Q	H	+	3	2	CDH7	61627925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.407000	0.59754	1.532000	0.49169	0.650000	0.86243	CAC	.		0.373	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	
CDH7	1005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	63511216	63511216	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:63511216A>T	ENST00000397968.2	+	7	1576	c.1150A>T	c.(1150-1152)Atg>Ttg	p.M384L	CDH7_ENST00000536984.2_Missense_Mutation_p.M384L|CDH7_ENST00000323011.3_Missense_Mutation_p.M384L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	384	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	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)				CTTGTACCCTATGGAGGTGTC	0.483																																					p.M384L		.											.	CDH7-94	0			c.A1150T						.						172.0	145.0	154.0					18																	63511216		2203	4300	6503	SO:0001583	missense	1005	exon7			TACCCTATGGAGG	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.1150A>T	18.37:g.63511216A>T	ENSP00000381058:p.Met384Leu	124	0		119	32	NM_004361	0	0	0	0	0	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	8.318	0.823738	0.16678	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.50277	0.75;0.75;0.75	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.244483	0.43747	D	0.000530	T	0.31420	0.0796	N	0.20357	0.565	0.80722	D	1	B;P	0.36789	0.002;0.57	B;B	0.38106	0.006;0.265	T	0.12528	-1.0544	10	0.05721	T	0.95	.	14.8005	0.69913	1.0:0.0:0.0:0.0	.	384;384	F5H5X9;Q9ULB5	.;CADH7_HUMAN	L	384	ENSP00000319166:M384L;ENSP00000443030:M384L;ENSP00000381058:M384L	ENSP00000319166:M384L	M	+	1	0	CDH7	61662196	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.525000	0.90583	2.065000	0.61736	0.533000	0.62120	ATG	.		0.483	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	
CDH19	28513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	64239377	64239377	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:64239377G>T	ENST00000540086.1	-	2	311	c.65C>A	c.(64-66)gCa>gAa	p.A22E	CDH19_ENST00000262150.2_Missense_Mutation_p.A22E	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GTTTTCTGTTGCTCCAAGACA	0.423																																					p.A22E		.											.	CDH19-516	0			c.C65A						.						111.0	102.0	105.0					18																	64239377		2203	4299	6502	SO:0001583	missense	28513	exon2			TCTGTTGCTCCAA	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.65C>A	18.37:g.64239377G>T	ENSP00000439593:p.Ala22Glu	114	0		107	16	NM_021153	0	0	0	0	0	O15098	Missense_Mutation	SNP	ENST00000540086.1	37	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355542	0.24598	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.55930	0.49;0.5	5.7	1.38	0.22167	.	1.841680	0.02839	N	0.127708	T	0.41351	0.1155	L	0.47716	1.5	0.09310	N	1	B;B	0.30763	0.043;0.294	B;B	0.27887	0.018;0.084	T	0.09773	-1.0659	10	0.12430	T	0.62	.	3.2253	0.06730	0.2189:0.0954:0.5152:0.1706	.	22;22	F5H1K0;Q9H159	.;CAD19_HUMAN	E	22	ENSP00000262150:A22E;ENSP00000439593:A22E	ENSP00000262150:A22E	A	-	2	0	CDH19	62390357	0.000000	0.05858	0.002000	0.10522	0.255000	0.26057	0.608000	0.24223	0.322000	0.23283	0.563000	0.77884	GCA	.		0.423	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	
DSEL	92126	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	65179129	65179129	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:65179129C>A	ENST00000310045.7	-	2	4220	c.2747G>T	c.(2746-2748)tGg>tTg	p.W916L	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	906					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGACACCTTCCATTCACAAGC	0.418																																					p.W916L		.											.	DSEL-157	0			c.G2747T						.						79.0	79.0	79.0					18																	65179129		2203	4300	6503	SO:0001583	missense	92126	exon2			ACCTTCCATTCAC	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2747G>T	18.37:g.65179129C>A	ENSP00000310565:p.Trp916Leu	81	1		70	30	NM_032160	0	0	0	0	0	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462494	0.96240	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.30182	1.54	5.13	5.13	0.70059	Sulfotransferase domain (1);	0.144427	0.49916	D	0.000122	T	0.56277	0.1974	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59804	-0.7385	10	0.72032	D	0.01	-6.8769	18.5756	0.91154	0.0:1.0:0.0:0.0	.	906	Q8IZU8	DSEL_HUMAN	L	916;906	ENSP00000310565:W916L	ENSP00000310565:W916L	W	-	2	0	DSEL	63330109	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.717000	0.84732	2.384000	0.81235	0.563000	0.77884	TGG	.		0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
CCDC102B	79839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	66564598	66564598	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:66564598G>T	ENST00000360242.5	+	6	1313	c.1196G>T	c.(1195-1197)aGa>aTa	p.R399I	CCDC102B_ENST00000584156.1_Missense_Mutation_p.R399I|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R399I|RP11-861L17.3_ENST00000584226.1_5'Flank|CCDC102B_ENST00000319445.6_Missense_Mutation_p.R399I|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	399										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAGAAAAATAGATTAAGTGCA	0.388																																					p.R399I		.											.	CCDC102B-93	0			c.G1196T						.						132.0	149.0	143.0					18																	66564598		2203	4300	6503	SO:0001583	missense	79839	exon8			AAAATAGATTAAG	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1196G>T	18.37:g.66564598G>T	ENSP00000353377:p.Arg399Ile	56	0		49	8	NM_001093729	0	0	0	0	0	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	8.495	0.862837	0.17178	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.20598	2.58;2.06;2.58	5.43	1.09	0.20402	.	1.164090	0.06056	N	0.657460	T	0.22742	0.0549	L	0.59436	1.845	0.09310	N	1	P;P	0.40398	0.716;0.716	B;B	0.40285	0.325;0.325	T	0.26360	-1.0105	10	0.87932	D	0	0.6223	3.9765	0.09476	0.1086:0.3233:0.4433:0.1247	.	399;399	Q68D86-3;Q68D86	.;C102B_HUMAN	I	399	ENSP00000316237:R399I;ENSP00000351479:R399I;ENSP00000353377:R399I	ENSP00000316237:R399I	R	+	2	0	CCDC102B	64715578	.	.	0.000000	0.03702	0.003000	0.03518	.	.	0.161000	0.19458	0.561000	0.74099	AGA	.		0.388	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	
CCDC102B	79839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	66721282	66721282	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:66721282A>T	ENST00000360242.5	+	8	1567	c.1450A>T	c.(1450-1452)Aat>Tat	p.N484Y	CCDC102B_ENST00000319445.6_Missense_Mutation_p.N484Y	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	484										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGATTCCCTGAATCAGATCCG	0.368																																					p.N484Y		.											.	CCDC102B-93	0			c.A1450T						.						83.0	79.0	80.0					18																	66721282		2203	4300	6503	SO:0001583	missense	79839	exon10			TCCCTGAATCAGA	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1450A>T	18.37:g.66721282A>T	ENSP00000353377:p.Asn484Tyr	16	0		22	5	NM_001093729	0	0	0	0	0	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	A	9.470	1.095330	0.20471	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.24908	1.83;1.83	5.05	1.69	0.24217	.	1.137880	0.06875	U	0.801415	T	0.35913	0.0948	M	0.71871	2.18	0.09310	N	1	P	0.43701	0.815	P	0.48840	0.592	T	0.20438	-1.0275	10	0.54805	T	0.06	-3.0007	4.0699	0.09877	0.6494:0.1862:0.1644:0.0	.	484	Q68D86	C102B_HUMAN	Y	484	ENSP00000316237:N484Y;ENSP00000353377:N484Y	ENSP00000316237:N484Y	N	+	1	0	CCDC102B	64872262	1.000000	0.71417	0.002000	0.10522	0.086000	0.17979	2.522000	0.45572	0.051000	0.15978	0.372000	0.22366	AAT	.		0.368	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	
CBLN2	147381	hgsc.bcm.edu	37	18	70209321	70209321	+	Silent	SNP	C	C	A	rs7237888	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:70209321C>A	ENST00000269503.4	-	3	848	c.75G>T	c.(73-75)ccG>ccT	p.P25P	CBLN2_ENST00000585159.1_Silent_p.P25P|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_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		9	9	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	
NETO1	81832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	70526196	70526196	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:70526196G>T	ENST00000327305.6	-	4	991	c.334C>A	c.(334-336)Cca>Aca	p.P112T	NETO1_ENST00000397929.1_Missense_Mutation_p.P111T|NETO1_ENST00000583169.1_Missense_Mutation_p.P112T|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.P111T	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	112	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.P112T(1)|p.P111T(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCAATTATTGGAGAAAAGCCA	0.373																																					p.P112T		.											.	NETO1-94	2	Substitution - Missense(2)	lung(2)	c.C334A						.						94.0	94.0	94.0					18																	70526196		2203	4300	6503	SO:0001583	missense	81832	exon4			TTATTGGAGAAAA	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.334C>A	18.37:g.70526196G>T	ENSP00000313088:p.Pro112Thr	143	0		124	49	NM_001201465	0	0	0	0	0	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623942	0.66901	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.35973	1.28;1.28;1.51	5.35	5.35	0.76521	CUB (5);	0.207467	0.33005	N	0.005385	T	0.61763	0.2373	M	0.72353	2.195	0.80722	D	1	D;P;D	0.76494	0.989;0.665;0.999	P;P;D	0.78314	0.801;0.507;0.991	T	0.62905	-0.6755	10	0.59425	D	0.04	0.013	19.438	0.94806	0.0:0.0:1.0:0.0	.	111;111;112	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	T	112;111;111	ENSP00000313088:P112T;ENSP00000299430:P111T;ENSP00000381024:P111T	ENSP00000299430:P111T	P	-	1	0	NETO1	68677176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.745000	0.98856	2.672000	0.90937	0.655000	0.94253	CCA	.		0.373	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	
ZNF407	55628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	72775251	72775251	+	Silent	SNP	G	G	T	rs377247781		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:72775251G>T	ENST00000299687.5	+	8	5574	c.5574G>T	c.(5572-5574)ccG>ccT	p.P1858P		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1858					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCCAGCGCCGCCCCCTGAGC	0.677																																					p.P1858P		.											.	ZNF407-92	0			c.G5574T						.						44.0	58.0	53.0					18																	72775251		2061	4210	6271	SO:0001819	synonymous_variant	55628	exon8			AGCGCCGCCCCCT	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5574G>T	18.37:g.72775251G>T		203	0		253	62	NM_017757	0	0	0	0	0	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																			.		0.677	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
CTDP1	9150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	77475469	77475469	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr18:77475469G>T	ENST00000299543.7	+	8	2156	c.2009G>T	c.(2008-2010)cGg>cTg	p.R670L	CTDP1_ENST00000075430.7_Missense_Mutation_p.R670L	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	670	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ATCCTCACTCGGCTGGTGCTG	0.652																																					p.R670L		.											.	CTDP1-90	0			c.G2009T						.						20.0	18.0	18.0					18																	77475469		2196	4295	6491	SO:0001583	missense	9150	exon8			TCACTCGGCTGGT	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2009G>T	18.37:g.77475469G>T	ENSP00000299543:p.Arg670Leu	70	0		112	46	NM_004715	0	0	0	0	0	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	9.627	1.135452	0.21123	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	D;D	0.82984	-1.67;-1.67	4.52	2.14	0.27477	BRCT (3);	0.501324	0.22822	N	0.055203	T	0.67896	0.2942	L	0.29908	0.895	0.23162	N	0.998193	B;B;B	0.31581	0.208;0.329;0.248	B;B;B	0.28784	0.057;0.082;0.094	T	0.54675	-0.8258	10	0.32370	T	0.25	-19.1325	5.0881	0.14693	0.6767:0.1532:0.1701:0.0	.	551;670;670	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	L	670	ENSP00000299543:R670L;ENSP00000075430:R670L	ENSP00000075430:R670L	R	+	2	0	CTDP1	75576457	0.999000	0.42202	0.599000	0.28851	0.283000	0.27025	1.470000	0.35354	0.235000	0.21160	-0.379000	0.06801	CGG	.		0.652	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715	
STK11	6794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	1220443	1220443	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:1220443C>G	ENST00000326873.7	+	4	1709	c.536C>G	c.(535-537)cCg>cGg	p.P179R		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.P179L(1)|p.K178fs*86(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATCAAGCCGGGGAACCTG	0.662		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																											p.P179R		.	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	.	STK11-5227	30	Whole gene deletion(20)|Deletion - Frameshift(5)|Unknown(4)|Substitution - Missense(1)	cervix(15)|lung(10)|oesophagus(1)|ovary(1)|prostate(1)|kidney(1)|pancreas(1)	c.C536G						.						44.0	52.0	49.0					19																	1220443		2095	4239	6334	SO:0001583	missense	6794	exon4	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	TCAAGCCGGGGAA	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.536C>G	19.37:g.1220443C>G	ENSP00000324856:p.Pro179Arg	169	1		183	107	NM_000455	0	0	0	0	0	B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514944	0.64634	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.90069	-2.61	5.6	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	H	0.99357	4.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98018	1.0369	10	0.87932	D	0	-24.0845	13.8611	0.63561	0.0:0.9262:0.0:0.0738	.	179	Q15831	STK11_HUMAN	R	179	ENSP00000324856:P179R	ENSP00000324856:P179R	P	+	2	0	STK11	1171443	1.000000	0.71417	0.880000	0.34516	0.282000	0.26991	7.712000	0.84684	1.375000	0.46248	0.561000	0.74099	CCG	.		0.662	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455	
OAZ1	4946	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	2271846	2271846	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:2271846G>T	ENST00000602676.2	+	4	436	c.357G>T	c.(355-357)caG>caT	p.Q119H	OAZ1_ENST00000322297.4_Missense_Mutation_p.Q118H|OAZ1_ENST00000588673.2_Missense_Mutation_p.Q148H|JSRP1_ENST00000590976.1_5'Flank|OAZ1_ENST00000582888.4_Missense_Mutation_p.Q117H|OAZ1_ENST00000583542.4_Missense_Mutation_p.Q119H			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	119					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		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)	L-Ornithine(DB00129)	TCAACGTCCAGTCCAGGCTCA	0.587																																					.		.											.	OAZ1-68	0			.						.						59.0	61.0	61.0					19																	2271846		2132	4241	6373	SO:0001583	missense	4946	.			CGTCCAGTCCAGG		CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"""antizyme 1"""	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.357G>T	19.37:g.2271846G>T	ENSP00000473381:p.Gln119His	216	2		206	132	.	0	0	0	0	0	O43382|Q14989|Q92595|Q9UPL9	Missense_Mutation	SNP	ENST00000602676.2	37	CCDS58639.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718128	0.48622	.	.	ENSG00000104904	ENST00000322297	T	0.30714	1.52	4.4	4.4	0.53042	Acyl-CoA N-acyltransferase (1);	0.111909	0.64402	D	0.000008	T	0.27900	0.0687	L	0.46741	1.465	0.53688	D	0.999974	B	0.22003	0.063	B	0.27262	0.078	T	0.09058	-1.0692	10	0.46703	T	0.11	.	9.756	0.40504	0.0966:0.0:0.9034:0.0	.	119	P54368	OAZ1_HUMAN	H	118	ENSP00000314813:Q118H	ENSP00000314813:Q118H	Q	+	3	2	OAZ1	2222846	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.285000	0.51716	1.984000	0.57885	0.462000	0.41574	CAG	.		0.587	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467467.2	NM_004152	
SGTA	6449	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	2757762	2757762	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:2757762C>A	ENST00000221566.2	-	10	917	c.756G>T	c.(754-756)tcG>tcT	p.S252S		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	252					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		TGTTGCCACCCGAAATCATGC	0.667																																					p.S252S		.											.	SGTA-91	0			c.G756T						.						85.0	68.0	74.0					19																	2757762		2202	4300	6502	SO:0001819	synonymous_variant	6449	exon10			GCCACCCGAAATC	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.756G>T	19.37:g.2757762C>A		62	1		91	58	NM_003021	0	0	0	0	0	D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	ENST00000221566.2	37	CCDS12094.1																																																																																			.		0.667	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021	
NFIC	4782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	3449047	3449047	+	Nonsense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:3449047A>T	ENST00000443272.2	+	7	1045	c.994A>T	c.(994-996)Aag>Tag	p.K332*	NFIC_ENST00000395111.3_Nonsense_Mutation_p.K323*|NFIC_ENST00000590282.1_Nonsense_Mutation_p.K332*|NFIC_ENST00000341919.3_Nonsense_Mutation_p.K332*|NFIC_ENST00000589123.1_Nonsense_Mutation_p.K323*|NFIC_ENST00000346156.5_Nonsense_Mutation_p.K299*|NFIC_ENST00000586919.1_Nonsense_Mutation_p.K299*	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	332					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGAGATGGACAAGTCACCATT	0.642																																					p.K332X		.											.	NFIC-226	0			c.A994T						.						134.0	104.0	114.0					19																	3449047		2203	4300	6503	SO:0001587	stop_gained	4782	exon7			ATGGACAAGTCAC	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.994A>T	19.37:g.3449047A>T	ENSP00000396843:p.Lys332*	116	0		145	88	NM_001245004	0	0	0	0	0	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Nonsense_Mutation	SNP	ENST00000443272.2	37	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	A	37	6.118158	0.97300	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	.	.	.	3.96	3.96	0.45880	.	0.287191	0.32548	N	0.005946	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6991	0.51560	1.0:0.0:0.0:0.0	.	.	.	.	X	323;323;299;332;332;332	.	ENSP00000269778:K332X	K	+	1	0	NFIC	3400047	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.320000	0.72876	1.441000	0.47550	0.459000	0.35465	AAG	.		0.642	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597	
PTPRS	5802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	5239001	5239001	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:5239001C>A	ENST00000587303.1	-	12	1877	c.1778G>T	c.(1777-1779)cGc>cTc	p.R593L	PTPRS_ENST00000262963.6_Missense_Mutation_p.R589L|PTPRS_ENST00000372412.4_Missense_Mutation_p.R594L|PTPRS_ENST00000357368.4_Missense_Mutation_p.R593L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R580L|PTPRS_ENST00000592099.1_Missense_Mutation_p.R580L|PTPRS_ENST00000348075.2_Missense_Mutation_p.R580L|PTPRS_ENST00000353284.2_Missense_Mutation_p.R580L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	593	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGCCGCCAGGCGGAAGGCGTA	0.697																																					p.R593L		.											.	PTPRS-357	0			c.G1778T						.						58.0	52.0	54.0					19																	5239001		2203	4300	6503	SO:0001583	missense	5802	exon13			GCCAGGCGGAAGG	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1778G>T	19.37:g.5239001C>A	ENSP00000467537:p.Arg593Leu	43	0		118	66	NM_002850	0	0	0	0	0	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561974	0.65538	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	3.51	3.51	0.40186	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.101468	0.40554	U	0.001069	T	0.64283	0.2584	M	0.79926	2.475	0.24599	N	0.993785	B;P;B;B;P;P	0.41188	0.365;0.741;0.391;0.124;0.652;0.595	B;B;B;B;P;B	0.47402	0.325;0.325;0.325;0.07;0.546;0.386	T	0.57906	-0.7730	10	0.38643	T	0.18	.	10.1048	0.42526	0.0:0.9003:0.0:0.0997	.	593;580;584;580;593;606	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	L	606;594;593;593;593;589;580;593;584;580	ENSP00000361489:R594L;ENSP00000349932:R593L;ENSP00000262963:R589L;ENSP00000269907:R580L;ENSP00000327313:R580L	ENSP00000262963:R589L	R	-	2	0	PTPRS	5190001	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.751000	0.55165	1.786000	0.52430	0.305000	0.20034	CGC	.		0.697	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
MLLT1	4298	hgsc.bcm.edu	37	19	6214015	6214015	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:6214015C>A	ENST00000252674.7	-	9	1505	c.1342G>T	c.(1342-1344)Gcc>Tcc	p.A448S	MLLT1_ENST00000585588.1_5'UTR|CTC-503J8.6_ENST00000586154.1_lincRNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	448					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GAGGAGTCGGCGCTGTTGTCA	0.721			T	MLL	AL																																p.A448S		.		Dom	yes		19	19p13.3	4298	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""		L	.	MLLT1-658	0			c.G1342T						.						5.0	8.0	7.0					19																	6214015		2106	4186	6292	SO:0001583	missense	4298	exon9			AGTCGGCGCTGTT		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1342G>T	19.37:g.6214015C>A	ENSP00000252674:p.Ala448Ser	10	0		9	7	NM_005934	0	0	0	0	0	Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	c	4.484	0.089822	0.08632	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.53	4.53	0.55603	.	0.384552	0.27306	N	0.019973	T	0.43590	0.1254	L	0.37750	1.13	0.36689	D	0.879483	B	0.20261	0.043	B	0.23275	0.045	T	0.40776	-0.9545	9	0.02654	T	1	-5.6205	14.0319	0.64619	0.0:1.0:0.0:0.0	.	448	Q03111	ENL_HUMAN	S	448	.	ENSP00000252674:A448S	A	-	1	0	MLLT1	6165015	0.950000	0.32346	0.180000	0.23079	0.242000	0.25591	4.039000	0.57325	2.075000	0.62263	0.556000	0.70494	GCC	.		0.721	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934	
KHSRP	8570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	6416662	6416662	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:6416662C>A	ENST00000398148.3	-	14	1420		c.e14-1		MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TTCTCGCCACCTGCAGAAACG	0.602																																					.	Colon(55;593 1006 2067 9135 22980)	.											.	KHSRP-226	0			c.1328-1G>T						.						38.0	42.0	41.0					19																	6416662		2019	4178	6197	SO:0001630	splice_region_variant	8570	exon15			CGCCACCTGCAGA	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1328-1G>T	19.37:g.6416662C>A		87	0		78	43	NM_003685	0	0	0	0	0	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	ENST00000398148.3	37	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435605	0.62955	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1414	0.86755	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KHSRP	6367662	1.000000	0.71417	0.996000	0.52242	0.785000	0.44390	5.766000	0.68843	2.322000	0.78497	0.655000	0.94253	.	.		0.602	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		Intron
VAV1	7409	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	6853959	6853959	+	Splice_Site	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:6853959delG	ENST00000602142.1	+	26	2416	c.2334delG	c.(2332-2334)gtg>gt	p.V778fs	VAV1_ENST00000599806.1_Splice_Site_p.V723fs|VAV1_ENST00000539284.1_Splice_Site_p.V681fs|VAV1_ENST00000304076.2_Splice_Site_p.V756fs|VAV1_ENST00000596764.1_Splice_Site_p.V746fs	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	778					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCTCCACAGTGGGAAGCACAA	0.537																																					p.V778fs		.											.	VAV1-1276	0			c.2334delG						.						87.0	82.0	84.0					19																	6853959		2203	4300	6503	SO:0001630	splice_region_variant	7409	exon26			CACAGTGGGAAGC		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2333-1G>-	19.37:g.6853959delG		26	0		23	17	NM_005428	0	0	0	0	0	B4DVK9|M0QXX6|Q15860	Frame_Shift_Del	DEL	ENST00000602142.1	37	CCDS12174.1																																																																																			.		0.537	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		Frame_Shift_Del
ZNF358	140467	hgsc.bcm.edu	37	19	7585011	7585011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:7585011C>T	ENST00000597229.1	+	2	1053	c.883C>T	c.(883-885)Cag>Tag	p.Q295*	MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Nonsense_Mutation_p.Q295*	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	295					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCCGTGTCCGCAGTGCGGCAA	0.716																																					p.Q295X		.											.	ZNF358-90	0			c.C883T						.						12.0	14.0	13.0					19																	7585011		2181	4258	6439	SO:0001587	stop_gained	140467	exon2			TGTCCGCAGTGCG	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.883C>T	19.37:g.7585011C>T	ENSP00000472305:p.Gln295*	0	0		23	17	NM_018083	0	0	0	0	0	Q9BTM7	Nonsense_Mutation	SNP	ENST00000597229.1	37	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	C	37	6.609286	0.97701	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-19.8575	11.1846	0.48648	0.0:0.8132:0.1868:0.0	.	.	.	.	X	295	.	ENSP00000354703:Q295X	Q	+	1	0	ZNF358	7491011	0.000000	0.05858	1.000000	0.80357	0.977000	0.68977	-0.224000	0.09164	2.265000	0.75225	0.462000	0.41574	CAG	.		0.716	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1		
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9060203	9060203	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:9060203G>T	ENST00000397910.4	-	3	27446	c.27243C>A	c.(27241-27243)acC>acA	p.T9081T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9083	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACCTGTTTGGGTGGTAATGG	0.468																																					p.T9081T		.											.	MUC16-566	0			c.C27243A						.						186.0	173.0	177.0					19																	9060203		1936	4141	6077	SO:0001819	synonymous_variant	94025	exon3			TGTTTGGGTGGTA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27243C>A	19.37:g.9060203G>T		196	0		115	71	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			.		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9062539	9062539	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:9062539C>A	ENST00000397910.4	-	3	25110	c.24907G>T	c.(24907-24909)Ggc>Tgc	p.G8303C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8305	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCACCAGGCCAGGGTTGAGA	0.507																																					p.G8303C		.											.	MUC16-566	0			c.G24907T						.						89.0	84.0	86.0					19																	9062539		1947	4148	6095	SO:0001583	missense	94025	exon3			CCAGGCCAGGGTT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24907G>T	19.37:g.9062539C>A	ENSP00000381008:p.Gly8303Cys	145	0		94	54	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.622	0.115543	0.08831	.	.	ENSG00000181143	ENST00000397910	T	0.40225	1.04	2.78	-1.12	0.09808	.	.	.	.	.	T	0.48607	0.1509	L	0.50333	1.59	.	.	.	D	0.71674	0.998	D	0.64237	0.923	T	0.55095	-0.8194	8	0.87932	D	0	.	5.4991	0.16819	0.0:0.4332:0.0:0.5668	.	8303	B5ME49	.	C	8303	ENSP00000381008:G8303C	ENSP00000381008:G8303C	G	-	1	0	MUC16	8923539	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.163000	0.09997	-0.161000	0.10983	0.385000	0.25706	GGC	.		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9070334	9070334	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:9070334A>T	ENST00000397910.4	-	3	17315	c.17112T>A	c.(17110-17112)acT>acA	p.T5704T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5706	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGTGCGCAGTGTCTTTGT	0.507																																					p.T5704T		.											.	MUC16-566	0			c.T17112A						.						166.0	161.0	163.0					19																	9070334		2093	4211	6304	SO:0001819	synonymous_variant	94025	exon3			GTGCGCAGTGTCT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17112T>A	19.37:g.9070334A>T		271	0		188	104	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			.		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	bcgsc.ca	37	19	9090531	9090531	+	Silent	SNP	T	T	C	rs12976721	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:9090531T>C	ENST00000397910.4	-	1	1487	c.1284A>G	c.(1282-1284)gaA>gaG	p.E428E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	428	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E428E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCTTCTGTTTCCTTTCCAC	0.502													T|||	1082	0.216054	0.27	0.2248	5008	,	,		21630	0.0228		0.3091	False		,,,				2504	0.2403				p.E428E		.											.	MUC16-566	2	Substitution - coding silent(2)	prostate(2)	c.A1284G						.	T		1019,2945		145,729,1108	152.0	141.0	145.0		1284	-2.8	0.0	19	dbSNP_121	145	2733,5603		459,1815,1894	no	coding-synonymous	MUC16	NM_024690.2		604,2544,3002	CC,CT,TT		32.7855,25.7064,30.5041		428/14508	9090531	3752,8548	1982	4168	6150	SO:0001819	synonymous_variant	94025	exon1			TTCTGTTTCCTTT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1284A>G	19.37:g.9090531T>C		148	1		103	5	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																			T|0.772;C|0.228		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
COL5A3	50509	broad.mit.edu;mdanderson.org	37	19	10097029	10097029	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:10097029C>A	ENST00000264828.3	-	30	2399	c.2314G>T	c.(2314-2316)Gct>Tct	p.A772S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	772	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCTCGCCAGCCTGCCCCGCC	0.612																																					p.A772S		.											.	COL5A3-99	0			c.G2314T						.						18.0	23.0	22.0					19																	10097029		2198	4298	6496	SO:0001583	missense	50509	exon30			CGCCAGCCTGCCC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2314G>T	19.37:g.10097029C>A	ENSP00000264828:p.Ala772Ser	19	0		29	20	NM_015719	0	0	0	0	0	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	2.146	-0.395631	0.04899	.	.	ENSG00000080573	ENST00000264828	D	0.93247	-3.19	4.32	-4.03	0.04021	.	1.037590	0.07640	N	0.930120	D	0.86556	0.5961	N	0.16307	0.4	0.09310	N	1	B	0.19817	0.039	B	0.14578	0.011	T	0.67264	-0.5714	10	0.21540	T	0.41	.	17.9747	0.89123	0.0:0.1989:0.8011:0.0	.	772	P25940	CO5A3_HUMAN	S	772	ENSP00000264828:A772S	ENSP00000264828:A772S	A	-	1	0	COL5A3	9958029	0.000000	0.05858	0.037000	0.18230	0.614000	0.37383	-3.704000	0.00388	-0.131000	0.11578	0.462000	0.41574	GCT	.		0.612	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
COL5A3	50509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	10106750	10106750	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:10106750C>A	ENST00000264828.3	-	15	1610	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	509	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCTGTGGCCCTTCTGCTCCC	0.562																																					p.G509W		.											.	COL5A3-99	0			c.G1525T						.						230.0	201.0	211.0					19																	10106750		2203	4300	6503	SO:0001583	missense	50509	exon15			GTGGCCCTTCTGC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1525G>T	19.37:g.10106750C>A	ENSP00000264828:p.Gly509Trp	161	0		149	85	NM_015719	0	0	0	0	0	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312671	0.40895	.	.	ENSG00000080573	ENST00000264828	D	0.99537	-6.11	5.56	4.52	0.55395	.	0.000000	0.64402	U	0.000001	D	0.99778	0.9908	H	0.98646	4.29	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.97199	0.9863	10	0.87932	D	0	.	11.8005	0.52124	0.1755:0.8245:0.0:0.0	.	509	P25940	CO5A3_HUMAN	W	509	ENSP00000264828:G509W	ENSP00000264828:G509W	G	-	1	0	COL5A3	9967750	0.998000	0.40836	0.884000	0.34674	0.009000	0.06853	4.470000	0.60175	1.348000	0.45733	-0.182000	0.12963	GGG	.		0.562	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
TYK2	7297	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	10476223	10476223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:10476223C>T	ENST00000525621.1	-	7	1462	c.981G>A	c.(979-981)tgG>tgA	p.W327*	TYK2_ENST00000529370.1_Nonsense_Mutation_p.W327*|TYK2_ENST00000264818.6_Nonsense_Mutation_p.W327*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.W142*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	327	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCTCTACTGGCCACCACTGGA	0.647																																					p.W327X		.											.	TYK2-1009	0			c.G981A						.						65.0	79.0	74.0					19																	10476223		2203	4300	6503	SO:0001587	stop_gained	7297	exon7			TACTGGCCACCAC		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.981G>A	19.37:g.10476223C>T	ENSP00000431885:p.Trp327*	62	1		78	32	NM_003331	0	0	0	0	0	Q6QB10|Q96CH0	Nonsense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.329560|6.329560	0.97480|0.97480	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000525220|ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	.|.	.|.	.|.	5.18|5.18	-1.39|-1.39	0.08997|0.08997	.|.	.|0.568641	.|0.14184	.|N	.|0.335785	T|.	0.27832|.	0.0685|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24870|.	-1.0148|.	3|.	.|0.37606	.|T	.|0.19	-19.7162|-19.7162	1.2146|1.2146	0.01911|0.01911	0.2824:0.2971:0.2603:0.1601|0.2824:0.2971:0.2603:0.1601	.|.	.|.	.|.	.|.	D|X	106|142;327;327;74;327	.|.	.|ENSP00000264818:W327X	G|W	-|-	2|3	0|0	TYK2|TYK2	10337223|10337223	0.884000|0.884000	0.30299|0.30299	0.114000|0.114000	0.21550|0.21550	0.088000|0.088000	0.18126|0.18126	0.347000|0.347000	0.20014|0.20014	-0.393000|-0.393000	0.07739|0.07739	-0.258000|-0.258000	0.10820|0.10820	GGC|TGG	.		0.647	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1		
SMARCA4	6597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	11150201	11150201	+	Intron	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:11150201G>A	ENST00000429416.3	+	31	4451				SMARCA4_ENST00000450717.3_Intron|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000590574.1_Intron|SMARCA4_ENST00000541122.2_Intron|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1413D|SMARCA4_ENST00000413806.3_Intron|SMARCA4_ENST00000444061.3_Intron|SMARCA4_ENST00000589677.1_Intron|SMARCA4_ENST00000344626.4_Intron	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						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)				TTCCAGCGTGGCCTTCAGTTC	0.507			"""F, N, Mis"""		NSCLC																																p.G1413D		.		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.G4238A						.						69.0	63.0	65.0					19																	11150201		1566	3580	5146	SO:0001627	intron_variant	6597	exon30			AGCGTGGCCTTCA	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.4171-1782G>A	19.37:g.11150201G>A		74	0		65	39	NM_001128849	0	0	0	0	0	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.30|11.30	1.597375|1.597375	0.28445|0.28445	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000358026|ENST00000538456	D|.	0.86297|.	-2.1|.	0.727|0.727	0.727|0.727	0.18254|0.18254	.|.	.|.	.|.	.|.	.|.	T|.	0.17023|.	0.0409|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|.	0.64830|.	0.994|.	D|.	0.65010|.	0.931|.	T|.	0.28650|.	-1.0037|.	8|.	0.18276|.	T|.	0.48|.	.|.	.|.	.|.	.|.	.|.	1413|.	Q9HBD4|.	.|.	D|X	1413|149	ENSP00000350720:G1413D|.	ENSP00000350720:G1413D|.	G|W	+|+	2|3	0|0	SMARCA4|SMARCA4	11011201|11011201	0.002000|0.002000	0.14202|0.14202	0.005000|0.005000	0.12908|0.12908	0.970000|0.970000	0.65996|0.65996	0.727000|0.727000	0.25999|0.25999	0.662000|0.662000	0.31006|0.31006	0.313000|0.313000	0.20887|0.20887	GGC|TGG	.		0.507	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
CACNA1A	773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	13565966	13565966	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:13565966C>A	ENST00000360228.5	-	2	353	c.354G>T	c.(352-354)gaG>gaT	p.E118D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E118D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	118					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGATGCTGCTCCAGTGCGA	0.433																																					p.E118D		.											.	CACNA1A-67	0			c.G354T						.						195.0	194.0	194.0					19																	13565966		2046	4219	6265	SO:0001583	missense	773	exon2			ATGCTGCTCCAGT	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.354G>T	19.37:g.13565966C>A	ENSP00000353362:p.Glu118Asp	127	0		96	55	NM_001127222	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165713	0.57476	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.74632	-0.86	5.01	3.96	0.45880	.	0.000000	0.64402	D	0.000001	D	0.82889	0.5135	M	0.79123	2.44	0.41632	D	0.98902	D;D	0.76494	0.991;0.999	P;P	0.61070	0.754;0.883	D	0.85173	0.0999	10	0.72032	D	0.01	.	12.0934	0.53739	0.0:0.914:0.0:0.086	.	118;118	O00555;Q9NS88	CAC1A_HUMAN;.	D	118	ENSP00000353362:E118D	ENSP00000317661:E118D	E	-	3	2	CACNA1A	13426966	0.909000	0.30893	1.000000	0.80357	0.867000	0.49689	0.058000	0.14301	2.489000	0.83994	0.655000	0.94253	GAG	.		0.433	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
SLC1A6	6511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	15083539	15083539	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:15083539T>A	ENST00000221742.3	-	1	191	c.184A>T	c.(184-186)Acg>Tcg	p.T62S	SLC1A6_ENST00000430939.2_Missense_Mutation_p.D66V|SLC1A6_ENST00000598504.1_Missense_Mutation_p.T62S|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T62S|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T62S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	62					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.T62A(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCGCTGACCGTCAGCAGAATG	0.627																																					p.T62S		.											.	SLC1A6-186	1	Substitution - Missense(1)	prostate(1)	c.A184T						.						29.0	29.0	29.0					19																	15083539		2202	4298	6500	SO:0001583	missense	6511	exon4			TGACCGTCAGCAG		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.184A>T	19.37:g.15083539T>A	ENSP00000221742:p.Thr62Ser	227	1		321	145	NM_001272087	0	0	0	0	0	Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.56|16.56	3.157991|3.157991	0.57368|0.57368	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000430939|ENST00000221742;ENST00000544886;ENST00000542610	T|T;T	0.75477|0.59906	-0.94|0.23;0.23	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70413|0.70413	0.3221|0.3221	M|M	0.71581|0.71581	2.175|2.175	0.49915|0.49915	D|D	0.99983|0.99983	P|D;D;D	0.36789|0.65815	0.57|0.995;0.995;0.972	B|D;D;P	0.42319|0.73380	0.383|0.98;0.971;0.773	T|T	0.68780|0.68780	-0.5318|-0.5318	9|10	0.87932|0.30854	D|T	0|0.27	-25.7488|-25.7488	10.0207|10.0207	0.42041|0.42041	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	66|62;63;62	E7EV13|Q8N753;Q59GB0;P48664	.|.;.;EAA4_HUMAN	V|S	66|62;62;63	ENSP00000409386:D66V|ENSP00000221742:T62S;ENSP00000446175:T62S	ENSP00000409386:D66V|ENSP00000221742:T62S	D|T	-|-	2|1	0|0	SLC1A6|SLC1A6	14944539|14944539	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.804000|0.804000	0.45430|0.45430	6.264000|6.264000	0.72527|0.72527	1.868000|1.868000	0.54150|0.54150	0.260000|0.260000	0.18958|0.18958	GAC|ACG	.		0.627	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
PGLYRP2	114770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	15586650	15586650	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:15586650C>G	ENST00000340880.4	-	2	1311	c.831G>C	c.(829-831)ctG>ctC	p.L277L	PGLYRP2_ENST00000292609.4_Silent_p.L277L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	277					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TGACCCCATCCAGGGCGCCAT	0.617																																					p.L277L		.											.	PGLYRP2-93	0			c.G831C						.						36.0	39.0	38.0					19																	15586650		2203	4300	6503	SO:0001819	synonymous_variant	114770	exon2			CCCATCCAGGGCG	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.831G>C	19.37:g.15586650C>G		59	0		55	12	NM_052890	0	0	0	0	0	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	CCDS12330.2																																																																																			.		0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890	
CYP4F3	4051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	15752302	15752302	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:15752302G>A	ENST00000221307.8	+	2	124	c.77G>A	c.(76-78)gGg>gAg	p.G26E	CYP4F3_ENST00000591058.1_Missense_Mutation_p.G26E|CYP4F3_ENST00000585846.1_Missense_Mutation_p.G26E|CYP4F3_ENST00000586182.2_Missense_Mutation_p.G26E	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	26					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTGCTGGTTGGGGCCTCCTGG	0.642																																					p.G26E		.											.	CYP4F3-93	0			c.G77A						.						53.0	55.0	55.0					19																	15752302		2203	4300	6503	SO:0001583	missense	4051	exon2			TGGTTGGGGCCTC	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.77G>A	19.37:g.15752302G>A	ENSP00000221307:p.Gly26Glu	133	0		121	69	NM_001199209	0	0	0	0	0	B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	11.60	1.688223	0.29962	.	.	ENSG00000186529	ENST00000221307	D	0.98987	-5.3	3.57	-3.05	0.05396	.	1.114660	0.07242	U	0.864323	D	0.98535	0.9511	M	0.64997	1.995	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.69307	0.963;0.963	D	0.95829	0.8856	10	0.27785	T	0.31	.	6.7457	0.23460	0.0:0.4618:0.2618:0.2763	.	26;26	B7Z8Z3;Q08477	.;CP4F3_HUMAN	E	26	ENSP00000221307:G26E	ENSP00000221307:G26E	G	+	2	0	CYP4F3	15613302	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.328000	0.07945	-0.171000	0.10797	0.411000	0.27672	GGG	.		0.642	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896	
SIN3B	23309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	16973222	16973222	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:16973222T>A	ENST00000248054.5	+	9	1139	c.1118T>A	c.(1117-1119)tTc>tAc	p.F373Y	SIN3B_ENST00000379803.1_Missense_Mutation_p.F373Y|SIN3B_ENST00000595541.1_5'Flank					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCTGTCCTTCGCGCCACCC	0.522																																					p.F373Y		.											.	SIN3B-228	0			c.T1118A						.						76.0	77.0	77.0					19																	16973222		2203	4300	6503	SO:0001583	missense	23309	exon9			TGTCCTTCGCGCC	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1118T>A	19.37:g.16973222T>A	ENSP00000248054:p.Phe373Tyr	84	0		58	29	NM_015260	0	0	0	0	0		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	T	0.398	-0.919906	0.02396	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.43688	0.94;0.96	4.63	3.59	0.41128	.	0.104028	0.64402	D	0.000002	T	0.28101	0.0693	L	0.38175	1.15	0.34862	D	0.742756	B;B	0.34103	0.115;0.437	B;B	0.31946	0.138;0.096	T	0.25847	-1.0120	10	0.08599	T	0.76	-14.3002	11.2035	0.48756	0.0:0.0:0.1544:0.8456	.	373;373	O75182-2;O75182	.;SIN3B_HUMAN	Y	373	ENSP00000369131:F373Y;ENSP00000248054:F373Y	ENSP00000248054:F373Y	F	+	2	0	SIN3B	16834222	1.000000	0.71417	0.254000	0.24359	0.221000	0.24807	6.108000	0.71522	0.602000	0.29896	0.459000	0.35465	TTC	.		0.522	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260	
MYO9B	4650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	17303667	17303667	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:17303667A>T	ENST00000594824.1	+	21	3071	c.2924A>T	c.(2923-2925)cAc>cTc	p.H975L	MYO9B_ENST00000595618.1_Missense_Mutation_p.H975L|MYO9B_ENST00000397274.2_Missense_Mutation_p.H975L			Q13459	MYO9B_HUMAN	myosin IXB	975	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAGCGTCGGCACTTCCTGCAG	0.682																																					p.H975L		.											.	MYO9B-67	0			c.A2924T						.						20.0	28.0	25.0					19																	17303667		2010	4060	6070	SO:0001583	missense	4650	exon21			GTCGGCACTTCCT		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2924A>T	19.37:g.17303667A>T	ENSP00000471367:p.His975Leu	107	0		154	93	NM_001130065	0	0	0	0	0	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	A	19.51	3.840561	0.71488	.	.	ENSG00000099331	ENST00000397274	T	0.70986	-0.53	5.07	1.84	0.25277	.	0.315814	0.27280	N	0.020081	T	0.65450	0.2692	L	0.28274	0.84	0.30301	N	0.789488	P;P;P	0.41188	0.741;0.741;0.737	P;P;P	0.51297	0.665;0.665;0.524	T	0.64202	-0.6463	10	0.56958	D	0.05	.	8.5198	0.33268	0.6833:0.0:0.3167:0.0	.	975;975;981	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	L	975	ENSP00000380444:H975L	ENSP00000380444:H975L	H	+	2	0	MYO9B	17164667	0.999000	0.42202	0.894000	0.35097	0.953000	0.61014	3.544000	0.53640	0.005000	0.14708	-0.296000	0.09543	CAC	.		0.682	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		
FAM129C	199786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	17643172	17643172	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:17643172G>T	ENST00000335393.4	+	4	518	c.380G>T	c.(379-381)cGc>cTc	p.R127L	FAM129C_ENST00000352727.3_Missense_Mutation_p.R127L|FAM129C_ENST00000595684.1_Missense_Mutation_p.R127L|FAM129C_ENST00000601861.1_Missense_Mutation_p.R96L|FAM129C_ENST00000599124.1_Missense_Mutation_p.R96L|FAM129C_ENST00000300971.2_Missense_Mutation_p.R127L|FAM129C_ENST00000600871.1_Missense_Mutation_p.R73L|FAM129C_ENST00000599164.1_Missense_Mutation_p.R96L|FAM129C_ENST00000332386.5_Missense_Mutation_p.R127L|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000449408.2_5'UTR	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	127										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGGGACGGCCGCCTAGAGTGG	0.647																																					p.R127L		.											.	FAM129C-90	0			c.G380T						.						90.0	89.0	89.0					19																	17643172		2203	4300	6503	SO:0001583	missense	199786	exon4			ACGGCCGCCTAGA	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.380G>T	19.37:g.17643172G>T	ENSP00000335040:p.Arg127Leu	199	0		172	105	NM_001098524	0	0	0	0	0	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251611	0.59212	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	3.89	0.11	0.14611	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.575782	0.14299	U	0.328428	T	0.23249	0.0562	M	0.68317	2.08	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.58660	0.843;0.796	T	0.47674	-0.9099	10	0.09084	T	0.74	-16.5376	3.6644	0.08250	0.2551:0.2299:0.5149:0.0	.	127;127	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	L	127;127;127;127;73	ENSP00000335040:R127L;ENSP00000333447:R127L;ENSP00000341067:R127L;ENSP00000300971:R127L	ENSP00000300971:R127L	R	+	2	0	FAM129C	17504172	0.001000	0.12720	0.999000	0.59377	0.955000	0.61496	0.436000	0.21526	0.304000	0.22809	0.491000	0.48974	CGC	.		0.647	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544	
ZNF90	7643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	20228898	20228898	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:20228898G>T	ENST00000418063.2	+	4	647	c.535G>T	c.(535-537)Ggc>Tgc	p.G179C	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	179					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TATAGAATGTGGCAAAGCTTT	0.348																																					p.G179C		.											.	ZNF90-48	0			c.G535T						.						32.0	29.0	30.0					19																	20228898		692	1591	2283	SO:0001583	missense	7643	exon4			GAATGTGGCAAAG	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.535G>T	19.37:g.20228898G>T	ENSP00000410466:p.Gly179Cys	62	0		54	21	NM_007138	0	0	0	0	0	B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010623	0.35511	.	.	ENSG00000213988	ENST00000418063	T	0.22336	1.96	1.18	-0.282	0.12878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42086	0.1187	M	0.83384	2.64	0.24851	N	0.992403	D	0.89917	1.0	D	0.74674	0.984	T	0.16217	-1.0410	8	.	.	.	.	5.3669	0.16119	0.2437:0.0:0.7563:0.0	.	179	Q03938	ZNF90_HUMAN	C	179	ENSP00000410466:G179C	.	G	+	1	0	ZNF90	20089898	1.000000	0.71417	0.082000	0.20525	0.082000	0.17680	2.058000	0.41374	0.293000	0.22520	0.298000	0.19748	GGC	.		0.348	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138	
ZNF675	171392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	23844980	23844980	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:23844980G>A	ENST00000359788.4	-	3	330	c.162C>T	c.(160-162)acC>acT	p.T54T	ZNF675_ENST00000600313.1_Silent_p.T54T|ZNF675_ENST00000596211.1_Silent_p.T54T|ZNF675_ENST00000599168.1_Silent_p.T54T|ZNF675_ENST00000601010.1_Silent_p.T54T|ZNF675_ENST00000601935.1_Silent_p.T54T	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GCTCCAGACAGGTGATCAGGT	0.378																																					p.T54T		.											.	ZNF675-228	0			c.C162T						.						116.0	116.0	116.0					19																	23844980		2203	4300	6503	SO:0001819	synonymous_variant	171392	exon3			CAGACAGGTGATC		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.162C>T	19.37:g.23844980G>A		45	0		36	17	NM_138330	0	0	0	0	0	Q8N211	Silent	SNP	ENST00000359788.4	37	CCDS32981.1																																																																																			.		0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	
TSHZ3	57616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	31767667	31767667	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:31767667G>C	ENST00000240587.4	-	2	3359	c.3032C>G	c.(3031-3033)aCc>aGc	p.T1011S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1011					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)					AATCTGTTCGGTGGACAGTTT	0.498																																					p.T1011S		.											.	TSHZ3-232	0			c.C3032G						.						147.0	126.0	133.0					19																	31767667		2203	4300	6503	SO:0001583	missense	57616	exon2			TGTTCGGTGGACA	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.3032C>G	19.37:g.31767667G>C	ENSP00000240587:p.Thr1011Ser	316	0		198	112	NM_020856	0	0	0	0	0	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	0.483	-0.878935	0.02550	.	.	ENSG00000121297	ENST00000240587	T	0.10860	2.83	5.84	2.32	0.28847	.	0.339448	0.33553	N	0.004790	T	0.05686	0.0149	N	0.14661	0.345	0.28372	N	0.919942	B	0.02656	0.0	B	0.01281	0.0	T	0.37220	-0.9715	10	0.13853	T	0.58	-22.3053	10.5154	0.44887	0.0:0.5237:0.314:0.1623	.	1011	Q63HK5	TSH3_HUMAN	S	1011	ENSP00000240587:T1011S	ENSP00000240587:T1011S	T	-	2	0	TSHZ3	36459507	0.960000	0.32886	0.929000	0.37066	0.999000	0.98932	1.789000	0.38724	0.757000	0.33036	0.591000	0.81541	ACC	.		0.498	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
TSHZ3	57616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	31768123	31768123	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:31768123G>T	ENST00000240587.4	-	2	2903	c.2576C>A	c.(2575-2577)aCg>aAg	p.T859K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	859					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)					GGATTTTGACGTGTGGCTCTC	0.532																																					p.T859K		.											.	TSHZ3-232	0			c.C2576A						.						132.0	125.0	128.0					19																	31768123		2203	4300	6503	SO:0001583	missense	57616	exon2			TTTGACGTGTGGC	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.2576C>A	19.37:g.31768123G>T	ENSP00000240587:p.Thr859Lys	157	0		106	61	NM_020856	0	0	0	0	0	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407144	0.42715	.	.	ENSG00000121297	ENST00000240587	T	0.16597	2.33	5.18	5.18	0.71444	.	0.345513	0.32884	N	0.005526	T	0.17323	0.0416	L	0.39245	1.2	0.46437	D	0.999042	P	0.43024	0.798	B	0.37144	0.242	T	0.02161	-1.1203	10	0.62326	D	0.03	-23.0945	18.7068	0.91641	0.0:0.0:1.0:0.0	.	859	Q63HK5	TSH3_HUMAN	K	859	ENSP00000240587:T859K	ENSP00000240587:T859K	T	-	2	0	TSHZ3	36459963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.025000	0.64097	2.399000	0.81585	0.655000	0.94253	ACG	.		0.532	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
ZNF599	148103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	35260460	35260460	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:35260460C>A	ENST00000329285.8	-	2	392	c.19G>T	c.(19-21)Gca>Tca	p.A7S	ZNF599_ENST00000587354.2_Splice_Site_p.A7S|ZNF599_ENST00000588760.1_Splice_Site_p.A7S	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GATACTAATGCCTGGGAAGTC	0.527																																					p.A7S		.											.	ZNF599-92	0			c.G19T						.						82.0	80.0	80.0					19																	35260460		2203	4300	6503	SO:0001630	splice_region_variant	148103	exon2			CTAATGCCTGGGA	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.19-1G>T	19.37:g.35260460C>A		92	0		58	36	NM_001007248	0	0	0	0	0	Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.521408	0.44866	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000379196	T	0.00792	5.69	3.23	1.08	0.20341	Krueppel-associated box (1);	.	.	.	.	T	0.00524	0.0017	N	0.12611	0.24	0.80722	D	1	B	0.25667	0.131	B	0.24541	0.054	T	0.60642	-0.7223	9	0.15066	T	0.55	.	7.2436	0.26109	0.0:0.7654:0.0:0.2346	.	7	Q96NL3	ZN599_HUMAN	S	6;7;1	ENSP00000333802:A7S	ENSP00000333802:A7S	A	-	1	0	ZNF599	39952300	0.014000	0.17966	0.191000	0.23289	0.836000	0.47400	-0.057000	0.11768	0.393000	0.25203	0.457000	0.33378	GCA	.		0.527	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	Missense_Mutation
MAG	4099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	35786525	35786525	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:35786525G>T	ENST00000392213.3	+	4	215	c.56G>T	c.(55-57)gGg>gTg	p.G19V	MAG_ENST00000361922.4_Missense_Mutation_p.G19V|MAG_ENST00000597035.1_Missense_Mutation_p.G19V|MAG_ENST00000537831.2_5'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	19					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCTCCCGAGGGGGTCACTGG	0.687																																					p.G19V		.											.	MAG-947	0			c.G56T						.						51.0	51.0	51.0					19																	35786525		2203	4300	6503	SO:0001583	missense	4099	exon4			CCCGAGGGGGTCA	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.56G>T	19.37:g.35786525G>T	ENSP00000376048:p.Gly19Val	69	0		57	30	NM_080600	0	0	0	0	0	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	g	17.79	3.476148	0.63737	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213	T;T	0.64438	0.03;-0.1	5.38	5.38	0.77491	.	0.208128	0.48767	D	0.000180	T	0.57562	0.2062	L	0.46157	1.445	0.80722	D	1	P;P;P	0.47409	0.895;0.895;0.675	B;B;B	0.40602	0.334;0.334;0.187	T	0.62378	-0.6867	10	0.51188	T	0.08	.	17.0011	0.86381	0.0:0.0:1.0:0.0	.	56;19;19	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	V	56;19;19	ENSP00000355234:G19V;ENSP00000376048:G19V	ENSP00000262624:G56V	G	+	2	0	MAG	40478365	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	4.265000	0.58865	2.692000	0.91855	0.450000	0.29827	GGG	.		0.687	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
ZFP82	284406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	36884174	36884174	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:36884174A>G	ENST00000392161.3	-	5	1310	c.1068T>C	c.(1066-1068)caT>caC	p.H356H	ZFP82_ENST00000392171.1_Silent_p.H356H	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAATTCTCTGATGGAGTGTTA	0.413																																					p.H356H		.											.	ZFP82-91	0			c.T1068C						.						93.0	94.0	94.0					19																	36884174		2203	4300	6503	SO:0001819	synonymous_variant	284406	exon5			TCTCTGATGGAGT	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1068T>C	19.37:g.36884174A>G		77	0		48	30	NM_133466	0	0	0	0	0	Q8NC63|Q8TF53	Silent	SNP	ENST00000392161.3	37	CCDS12493.1																																																																																			.		0.413	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466	
ZNF382	84911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	37100830	37100830	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:37100830G>T	ENST00000292928.2	+	3	127	c.14G>T	c.(13-15)gGa>gTa	p.G5V	ZNF382_ENST00000439428.1_Splice_Site_p.G4V|ZNF382_ENST00000435416.1_Missense_Mutation_p.G5V|ZNF382_ENST00000423582.1_Intron	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	5	Mediates interaction with TRIM28. {ECO:0000250}.|Represses transcription. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCCTTACAGGGATCAGTGTCA	0.468																																					p.G5V		.											.	ZNF382-90	0			c.G14T						.						131.0	117.0	122.0					19																	37100830		2203	4300	6503	SO:0001583	missense	84911	exon3			TACAGGGATCAGT	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.14G>T	19.37:g.37100830G>T	ENSP00000292928:p.Gly5Val	172	0		157	85	NM_032825	0	0	0	0	0	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235699	0.79800	.	.	ENSG00000161298	ENST00000292928;ENST00000439428;ENST00000435416	T;T;T	0.00873	5.59;5.59;5.59	4.95	4.95	0.65309	Krueppel-associated box (1);	0.000000	0.41823	D	0.000813	T	0.04907	0.0132	M	0.74389	2.26	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.37407	-0.9707	10	0.41790	T	0.15	.	13.8773	0.63660	0.0:0.0:1.0:0.0	.	4;5;5	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	V	5;4;5	ENSP00000292928:G5V;ENSP00000407593:G4V;ENSP00000410113:G5V	ENSP00000292928:G5V	G	+	2	0	ZNF382	41792670	0.809000	0.29036	0.994000	0.49952	0.995000	0.86356	0.808000	0.27154	2.728000	0.93425	0.563000	0.77884	GGA	.		0.468	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825	
SIPA1L3	23094	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	38572624	38572624	+	Missense_Mutation	SNP	G	G	A	rs376921669		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:38572624G>A	ENST00000222345.6	+	3	928	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	140					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)			GCCTTCCACCGACTCTCCAGG	0.657																																					p.R140Q		.											.	SIPA1L3-91	0			c.G419A						.						95.0	111.0	105.0					19																	38572624		2203	4300	6503	SO:0001583	missense	23094	exon3			TCCACCGACTCTC	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.419G>A	19.37:g.38572624G>A	ENSP00000222345:p.Arg140Gln	120	0		84	23	NM_015073	0	0	0	0	0	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348773	0.61183	.	.	ENSG00000105738	ENST00000222345	T	0.76186	-1.0	5.07	5.07	0.68467	.	0.074232	0.50627	D	0.000104	T	0.74238	0.3690	N	0.14661	0.345	0.42229	D	0.991889	D	0.89917	1.0	D	0.66497	0.944	T	0.73836	-0.3857	10	0.26408	T	0.33	-6.0895	17.2042	0.86914	0.0:0.0:1.0:0.0	.	140	O60292	SI1L3_HUMAN	Q	140	ENSP00000222345:R140Q	ENSP00000222345:R140Q	R	+	2	0	SIPA1L3	43264464	0.558000	0.26554	1.000000	0.80357	0.971000	0.66376	3.683000	0.54663	2.356000	0.79943	0.563000	0.77884	CGA	.		0.657	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
SIPA1L3	23094	hgsc.bcm.edu	37	19	38572784	38572784	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:38572784G>T	ENST00000222345.6	+	3	1088	c.579G>T	c.(577-579)acG>acT	p.T193T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	193					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)			CCCGGCACACGGGGGCGCTGC	0.701																																					p.T193T		.											.	SIPA1L3-91	0			c.G579T						.						18.0	20.0	19.0					19																	38572784		2152	4222	6374	SO:0001819	synonymous_variant	23094	exon3			GCACACGGGGGCG	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.579G>T	19.37:g.38572784G>T		3	0		37	24	NM_015073	0	0	0	0	0	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			.		0.701	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38954426	38954426	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:38954426G>T	ENST00000359596.3	+	22	2722	c.2722G>T	c.(2722-2724)Gac>Tac	p.D908Y	RYR1_ENST00000355481.4_Missense_Mutation_p.D908Y|RYR1_ENST00000360985.3_Missense_Mutation_p.D908Y			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	908	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTGTCTTGTGGACTTCCACAG	0.607																																					p.D908Y		.											.	RYR1-100	0			c.G2722T						.						99.0	91.0	93.0					19																	38954426		2203	4300	6503	SO:0001583	missense	6261	exon22			CTTGTGGACTTCC	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2722G>T	19.37:g.38954426G>T	ENSP00000352608:p.Asp908Tyr	107	0		88	52	NM_001042723	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	14.71	2.616257	0.46631	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91521	-2.86;-2.86;-2.86	4.0	-2.94	0.05581	Ryanodine receptor Ryr (1);	0.072154	0.51477	U	0.000092	D	0.92116	0.7501	M	0.62723	1.935	0.35702	D	0.815728	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.979	D	0.90553	0.4510	10	0.72032	D	0.01	.	9.4418	0.38673	0.4098:0.0:0.5902:0.0	.	908;908	P21817-2;P21817	.;RYR1_HUMAN	Y	908	ENSP00000352608:D908Y;ENSP00000347667:D908Y;ENSP00000354254:D908Y	ENSP00000347667:D908Y	D	+	1	0	RYR1	43646266	1.000000	0.71417	0.601000	0.28877	0.987000	0.75469	1.825000	0.39081	-0.654000	0.05394	0.444000	0.29173	GAC	.		0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
MAP4K1	11184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	39103252	39103252	+	Splice_Site	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:39103252T>G	ENST00000591517.1	-	9	692	c.664A>C	c.(664-666)Aga>Cga	p.R222R	MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Splice_Site_p.R222R|MAP4K1_ENST00000396857.2_Splice_Site_p.R222R|MAP4K1_ENST00000589130.1_Splice_Site_p.R218R|MAP4K1_ENST00000423454.2_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTGCCTACCTGAGAGGGTGC	0.607																																					p.R222R		.											.	MAP4K1-980	0			c.A664C						.						37.0	41.0	40.0					19																	39103252		2091	4232	6323	SO:0001630	splice_region_variant	11184	exon9			CCTACCTGAGAGG	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.665+1A>C	19.37:g.39103252T>G		52	0		38	24	NM_007181	0	0	0	0	0		Silent	SNP	ENST00000591517.1	37	CCDS59385.1																																																																																			.		0.607	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	Silent
RINL	126432	hgsc.bcm.edu	37	19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	rs8110393	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000598904.1_Missense_Mutation_p.P288L|RINL_ENST00000602238.1_5'Flank|RINL_ENST00000340740.3_Missense_Mutation_p.P288L|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4.0	4.0	4.0		1205,863	3.5	1.0	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	0	0		15	14	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445	
ACP7	390928	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	39589631	39589631	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:39589631C>A	ENST00000331256.5	+	4	628	c.354C>A	c.(352-354)agC>agA	p.S118R	PAPL_ENST00000594229.1_Missense_Mutation_p.S118R	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		118						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										AGGGCTGGAGCCGTCGGTTCC	0.657																																					p.S118R		.											.	.	0			c.C354A						.						42.0	46.0	45.0					19																	39589631		2203	4300	6503	SO:0001583	missense	0	exon4			CTGGAGCCGTCGG																												ENST00000331256.5:c.354C>A	19.37:g.39589631C>A	ENSP00000327557:p.Ser118Arg	50	0		28	16	NM_001004318	0	0	0	0	0	B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782252	0.70222	.	.	ENSG00000183760	ENST00000331256	D	0.86366	-2.11	5.01	2.89	0.33648	Purple acid phosphatase-like, N-terminal (1);Purple acid phosphatase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93772	0.8009	H	0.94964	3.605	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.92277	0.5830	10	0.59425	D	0.04	-39.4733	6.0517	0.19789	0.0:0.7005:0.0:0.2995	.	118	Q6ZNF0	PAPL_HUMAN	R	118	ENSP00000327557:S118R	ENSP00000327557:S118R	S	+	3	2	AC011443.1	44281471	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.587000	0.23909	1.089000	0.41292	0.563000	0.77884	AGC	.		0.657	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1		
SUPT5H	6829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	39959793	39959793	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:39959793G>T	ENST00000599117.1	+	16	1585	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	SUPT5H_ENST00000359191.6_Missense_Mutation_p.E402D|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E402D|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E406D|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E406D			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	406	Interaction with RNA polymerase II.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTGACCTGGAGGTGGTGACTG	0.597																																					p.E406D		.											.	SUPT5H-94	0			c.G1218T						.						70.0	75.0	73.0					19																	39959793		2203	4300	6503	SO:0001583	missense	6829	exon14			CCTGGAGGTGGTG	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1218G>T	19.37:g.39959793G>T	ENSP00000470252:p.Glu406Asp	223	1		146	89	NM_003169	0	0	0	0	0	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675765	0.47781	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.51	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	N	0.10618	0.005	0.80722	D	1	B;B;B	0.23735	0.09;0.047;0.058	B;B;B	0.29862	0.063;0.108;0.05	T	0.09487	-1.0672	8	.	.	.	-27.1315	9.696	0.40158	0.1612:0.0:0.8388:0.0	.	198;402;406	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	D	406;402;384;406	.	.	E	+	3	2	SUPT5H	44651633	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.898000	0.39809	1.346000	0.45694	0.650000	0.86243	GAG	.		0.597	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169	
SERTAD1	29950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	40929113	40929113	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:40929113G>A	ENST00000357949.4	-	2	499	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	114					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGGCCATGGAGGCTGAAAG	0.667																																					p.S114F		.											.	SERTAD1-226	0			c.C341T						.						16.0	16.0	16.0					19																	40929113		2202	4299	6501	SO:0001583	missense	29950	exon2			GCCATGGAGGCTG	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.341C>T	19.37:g.40929113G>A	ENSP00000350633:p.Ser114Phe	95	0		138	16	NM_013376	0	0	0	0	0	Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	37	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552752	0.65425	.	.	ENSG00000197019	ENST00000357949	T	0.51574	0.7	5.15	5.15	0.70609	.	0.132739	0.50627	D	0.000104	T	0.40570	0.1122	L	0.46157	1.445	0.39129	D	0.961827	B	0.28636	0.218	B	0.24269	0.052	T	0.45323	-0.9269	10	0.66056	D	0.02	1.2215	11.6562	0.51320	0.0867:0.0:0.9133:0.0	.	114	Q9UHV2	SRTD1_HUMAN	F	114	ENSP00000350633:S114F	ENSP00000350633:S114F	S	-	2	0	SERTAD1	45620953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.422000	0.52749	2.404000	0.81709	0.561000	0.74099	TCC	.		0.667	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376	
NUMBL	9253	ucsc.edu	37	19	41173871	41173871	+	Silent	SNP	C	C	T	rs62637692		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:41173871C>T	ENST00000252891.4	-	10	1499	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q	NUMBL_ENST00000540131.1_Silent_p.Q403Q|NUMBL_ENST00000598779.1_Silent_p.Q403Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	444	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgcttgctgctgttgctgct	0.667																																					p.Q444Q		.											.	NUMBL-637	0			c.G1332A						.						10.0	9.0	9.0					19																	41173871		2159	4226	6385	SO:0001819	synonymous_variant	9253	exon10			TTGCTGCTGTTGC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1332G>A	19.37:g.41173871C>T		47	7		57	20	NM_004756	0	0	0	0	0	Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																			C|0.982;T|0.018		0.667	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756	
NUMBL	9253	ucsc.edu	37	19	41173874	41173874	+	Silent	SNP	T	T	C	rs62637691		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:41173874T>C	ENST00000252891.4	-	10	1496	c.1329A>G	c.(1327-1329)caA>caG	p.Q443Q	NUMBL_ENST00000540131.1_Silent_p.Q402Q|NUMBL_ENST00000598779.1_Silent_p.Q402Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	443	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			cttgctgctgttgctgctgct	0.662																																					p.Q443Q		.											.	NUMBL-637	0			c.A1329G						.						10.0	9.0	9.0					19																	41173874		2153	4210	6363	SO:0001819	synonymous_variant	9253	exon10			CTGCTGTTGCTGC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1329A>G	19.37:g.41173874T>C		48	7		56	22	NM_004756	0	0	0	0	0	Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																			T|0.981;C|0.019		0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756	
NUMBL	9253	hgsc.bcm.edu	37	19	41173883	41173883	+	Silent	SNP	C	C	T	rs59475675		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:41173883C>T	ENST00000252891.4	-	10	1487	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	NUMBL_ENST00000540131.1_Silent_p.Q399Q|NUMBL_ENST00000598779.1_Silent_p.Q399Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	440	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			gttgctgctgctgctgctgct	0.662																																					p.Q440Q		.											.	NUMBL-637	0			c.G1320A						.						9.0	9.0	9.0					19																	41173883		2122	4145	6267	SO:0001819	synonymous_variant	9253	exon10			CTGCTGCTGCTGC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1320G>A	19.37:g.41173883C>T		51	0		58	4	NM_004756	0	0	0	0	0	Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																			.		0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756	
NUMBL	9253	hgsc.bcm.edu	37	19	41173904	41173904	+	Silent	SNP	T	T	C	rs79658769		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:41173904T>C	ENST00000252891.4	-	10	1466	c.1299A>G	c.(1297-1299)caA>caG	p.Q433Q	NUMBL_ENST00000540131.1_Silent_p.Q392Q|NUMBL_ENST00000598779.1_Silent_p.Q392Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	433	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			gctgttgctgttgctgctgct	0.662																																					p.Q433Q		.											.	NUMBL-637	0			c.A1299G						.						8.0	8.0	8.0					19																	41173904		2119	4125	6244	SO:0001819	synonymous_variant	9253	exon10			TTGCTGTTGCTGC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1299A>G	19.37:g.41173904T>C		49	0		49	11	NM_004756	0	0	0	0	0	Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																			C|1.000;|0.000		0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756	
PSG9	5678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	43766262	43766262	+	Missense_Mutation	SNP	G	G	T	rs577188236		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:43766262G>T	ENST00000270077.3	-	3	555	c.459C>A	c.(457-459)agC>agA	p.S153R	PSG9_ENST00000593948.1_Missense_Mutation_p.S153R|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000244293.7_Missense_Mutation_p.S153R	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	153	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTAAGTTGCTGCTGGAGATGT	0.517																																					p.S153R		.											.	PSG9-92	0			c.C459A						.						170.0	170.0	170.0					19																	43766262		2203	4300	6503	SO:0001583	missense	5678	exon3			GTTGCTGCTGGAG	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.459C>A	19.37:g.43766262G>T	ENSP00000270077:p.Ser153Arg	118	0		73	30	NM_002784	0	0	0	0	0	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	12.74	2.029252	0.35797	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.13196	2.61;2.61	2.12	2.12	0.27331	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33118	0.0852	M	0.75884	2.315	0.21740	N	0.999567	P;D;D	0.76494	0.834;0.999;0.997	D;D;D	0.77557	0.928;0.99;0.952	T	0.04029	-1.0983	9	0.87932	D	0	.	7.8962	0.29708	0.0:0.0:1.0:0.0	.	153;153;153	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	R	153;114;153	ENSP00000270077:S153R;ENSP00000244293:S153R	ENSP00000244293:S153R	S	-	3	2	PSG9	48458102	0.889000	0.30405	0.068000	0.19968	0.171000	0.22731	2.403000	0.44530	0.860000	0.35481	0.194000	0.17425	AGC	.		0.517	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	
PHLDB3	653583	hgsc.bcm.edu	37	19	44005886	44005886	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:44005886C>T	ENST00000292140.5	-	4	894	c.534G>A	c.(532-534)caG>caA	p.Q178Q	PHLDB3_ENST00000599242.1_Splice_Site_p.Q178Q	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	178							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCAAACAGACCTGTTCCCGCT	0.687																																					p.Q178Q		.											.	PHLDB3-68	0			c.G534A						.						23.0	25.0	25.0					19																	44005886		2192	4286	6478	SO:0001630	splice_region_variant	653583	exon4			ACAGACCTGTTCC		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.534+1G>A	19.37:g.44005886C>T		0	0		9	7	NM_198850	0	0	0	0	0	Q8N7Z4	Silent	SNP	ENST00000292140.5	37	CCDS12621.2																																																																																			.		0.687	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2		Silent
MARK4	57787	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	45801154	45801154	+	Missense_Mutation	SNP	G	G	T	rs376422468		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:45801154G>T	ENST00000262891.4	+	15	2150	c.1819G>T	c.(1819-1821)Ggg>Tgg	p.G607W	MARK4_ENST00000300843.4_Missense_Mutation_p.G607W	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	607					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTgcccgccgggcggccccg	0.746																																					p.G607W		.											.	MARK4-782	0			c.G1819T						.						3.0	3.0	3.0					19																	45801154		1695	3327	5022	SO:0001583	missense	57787	exon15			CCCGCCGGGCGGC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1819G>T	19.37:g.45801154G>T	ENSP00000262891:p.Gly607Trp	27	2		76	49	NM_001199867	0	0	0	0	0	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443262	0.25987	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.71934	-0.61;-0.59	3.72	3.72	0.42706	.	0.318634	0.25104	N	0.033109	T	0.74183	0.3683	L	0.49778	1.585	0.30067	N	0.81039	P;D	0.55605	0.947;0.972	P;P	0.60682	0.657;0.878	T	0.71364	-0.4615	10	0.87932	D	0	.	7.0389	0.25008	0.1241:0.0:0.8759:0.0	.	607;607	Q96L34;Q96L34-2	MARK4_HUMAN;.	W	607	ENSP00000262891:G607W;ENSP00000300843:G607W	ENSP00000262891:G607W	G	+	1	0	MARK4	50492994	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	3.118000	0.50414	1.921000	0.55644	0.298000	0.19748	GGG	.		0.746	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417	
GPR4	2828	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	46094390	46094390	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:46094390C>T	ENST00000323040.4	-	2	1679	c.735G>A	c.(733-735)ctG>ctA	p.L245L	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	245					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCTGCGGGACAGCAAGAGCA	0.627																																					p.L245L	Esophageal Squamous(117;181 1612 1673 14956 42937)	.											.	GPR4-92	0			c.G735A						.						43.0	47.0	46.0					19																	46094390		2203	4300	6503	SO:0001819	synonymous_variant	2828	exon2			GCGGGACAGCAAG	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.735G>A	19.37:g.46094390C>T		65	1		74	41	NM_005282	0	0	0	0	0	A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	CCDS12669.1																																																																																			.		0.627	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282	
DACT3	147906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	47156013	47156013	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:47156013A>T	ENST00000391916.2	-	3	476	c.403T>A	c.(403-405)Tgt>Agt	p.C135S	DACT3_ENST00000410105.2_Missense_Mutation_p.C135S|DACT3_ENST00000300875.4_5'UTR	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	135					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		CTGTCCCCACAGAAGGTTGAG	0.562																																					p.C135S		.											.	.	0			c.T403A						.						58.0	66.0	63.0					19																	47156013		692	1591	2283	SO:0001583	missense	147906	exon3			CCCCACAGAAGGT		CCDS12688.2, CCDS74402.1	19q13.32	2013-05-15	2013-05-15	2006-09-25	ENSG00000197380	ENSG00000197380			30745	protein-coding gene	gene with protein product		611112	"""arginine rich region 1"", ""dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)"""	RRR1		16881060	Standard	NM_145056		Approved	MGC15476, DAPPER3	uc010ekq.3	Q96B18	OTTHUMG00000153070	ENST00000391916.2:c.403T>A	19.37:g.47156013A>T	ENSP00000375783:p.Cys135Ser	69	0		39	23	NM_145056	0	0	0	0	0		Missense_Mutation	SNP	ENST00000391916.2	37	CCDS12688.2	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710423	0.68730	.	.	ENSG00000197380	ENST00000391916;ENST00000410105	T	0.65364	-0.15	4.81	3.76	0.43208	.	0.422761	0.15121	U	0.279379	T	0.27663	0.0680	N	0.00991	-1.07	0.29867	N	0.827197	P;B	0.41450	0.75;0.072	B;B	0.38755	0.281;0.08	T	0.07177	-1.0786	10	0.16420	T	0.52	-16.5936	7.6991	0.28613	0.7099:0.2901:0.0:0.0	.	135;135	Q96B18;G5E9H6	DACT3_HUMAN;.	S	135	ENSP00000375783:C135S	ENSP00000375783:C135S	C	-	1	0	DACT3	51847853	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.251000	0.32862	1.812000	0.52913	0.402000	0.26972	TGT	.		0.562	DACT3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334090.1	NM_145056	
MEIS3	56917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	47920493	47920493	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:47920493G>C	ENST00000558555.1	-	2	314	c.127C>G	c.(127-129)Ccc>Gcc	p.P43A	MEIS3_ENST00000559524.1_Missense_Mutation_p.P43A|MEIS3_ENST00000441740.2_Missense_Mutation_p.P43A|MEIS3_ENST00000331559.5_Missense_Mutation_p.P43A|MEIS3_ENST00000561096.1_Missense_Mutation_p.P131A|MEIS3_ENST00000561293.1_Missense_Mutation_p.P43A			Q99687	MEIS3_HUMAN	Meis homeobox 3	43					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GGGGGCAGGGGCTGGGGAGGC	0.667																																					p.P43A		.											.	MEIS3-90	0			c.C127G						.						39.0	49.0	45.0					19																	47920493		2201	4300	6501	SO:0001583	missense	56917	exon2			GCAGGGGCTGGGG	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.127C>G	19.37:g.47920493G>C	ENSP00000454073:p.Pro43Ala	87	0		112	64	NM_001009813	0	0	0	0	0	A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37		.	.	.	.	.	.	.	.	.	.	G	0.740	-0.776827	0.02929	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	T;T	0.34072	1.38;1.38	3.18	3.18	0.36537	.	0.382752	0.19097	N	0.122807	T	0.21227	0.0511	L	0.39397	1.21	0.22096	N	0.999361	B;B;P	0.37663	0.004;0.002;0.604	B;B;B	0.36134	0.012;0.003;0.218	T	0.18023	-1.0350	10	0.05436	T	0.98	-15.0052	6.3841	0.21552	0.1331:0.0:0.8669:0.0	.	43;43;43	Q99687;Q99687-3;Q99687-2	MEIS3_HUMAN;.;.	A	43	ENSP00000333552:P43A;ENSP00000388667:P43A	ENSP00000333552:P43A	P	-	1	0	MEIS3	52612305	0.306000	0.24490	0.932000	0.37286	0.104000	0.19210	2.422000	0.44696	2.097000	0.63578	0.491000	0.48974	CCC	.		0.667	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929	
SLC8A2	6543	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	19	47951225	47951225	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:47951225C>T	ENST00000236877.6	-	4	1999	c.1604G>A	c.(1603-1605)aGc>aAc	p.S535N	SLC8A2_ENST00000542837.1_Missense_Mutation_p.S291N|SLC8A2_ENST00000539381.1_5'UTR|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	535	Calx-beta 2.				blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CATGCACTCGCTCACGTGCAG	0.736																																					p.S535N		.											.	SLC8A2-94	0			c.G1604A						.						16.0	13.0	14.0					19																	47951225		2124	4126	6250	SO:0001583	missense	6543	exon4			CACTCGCTCACGT	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1604G>A	19.37:g.47951225C>T	ENSP00000236877:p.Ser535Asn	18	0		63	35	NM_015063	0	0	0	0	0	B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985404	0.53934	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000542837	T;T	0.30714	1.52;1.52	4.15	3.1	0.35709	Na-Ca exchanger/integrin-beta4 (2);	0.156096	0.53938	D	0.000042	T	0.35364	0.0929	L	0.37750	1.13	0.80722	D	1	D;B	0.54397	0.966;0.09	P;B	0.53450	0.726;0.013	T	0.11494	-1.0585	10	0.48119	T	0.1	.	13.2104	0.59821	0.0:0.8384:0.1616:0.0	.	363;535	E9PGS7;Q9UPR5	.;NAC2_HUMAN	N	363;535;291	ENSP00000236877:S535N;ENSP00000437536:S291N	ENSP00000236877:S535N	S	-	2	0	SLC8A2	52643037	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.695000	0.61767	1.088000	0.41272	-0.326000	0.08463	AGC	.		0.736	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1		
GLTSCR1	29998	hgsc.bcm.edu	37	19	48183685	48183685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:48183685C>T	ENST00000396720.3	+	6	1452	c.1258C>T	c.(1258-1260)Caa>Taa	p.Q420*	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	420										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCTGCGCTGCAAGCGAACGT	0.716																																					p.Q420X		.											.	GLTSCR1-48	0			c.C1258T						.						9.0	12.0	11.0					19																	48183685		1629	3380	5009	SO:0001587	stop_gained	29998	exon6			GCGCTGCAAGCGA	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.1258C>T	19.37:g.48183685C>T	ENSP00000379946:p.Gln420*	1	0		20	8	NM_015711	0	0	0	0	0	A8MW01	Nonsense_Mutation	SNP	ENST00000396720.3	37	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170897	0.78452	.	.	ENSG00000063169	ENST00000396720	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	15.2068	0.73186	0.0:1.0:0.0:0.0	.	.	.	.	X	420	.	ENSP00000379946:Q420X	Q	+	1	0	GLTSCR1	52875497	0.998000	0.40836	0.939000	0.37840	0.049000	0.14656	2.081000	0.41596	2.101000	0.63845	0.491000	0.48974	CAA	.		0.716	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711	
GLTSCR2	29997	hgsc.bcm.edu	37	19	48258717	48258717	+	Missense_Mutation	SNP	A	A	G	rs1804994	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:48258717A>G	ENST00000246802.5	+	9	1204	c.1166A>G	c.(1165-1167)cAg>cGg	p.Q389R	SNORD23_ENST00000408876.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR|CTD-2571L23.6_ENST00000602048.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	389			Q -> R (in dbSNP:rs1804994). {ECO:0000269|PubMed:10708517, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}.			intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		gcgcggcggcagaggcggcgg	0.761													G|||	3570	0.712859	0.857	0.6888	5008	,	,		6528	0.5546		0.6799	False		,,,				2504	0.7321				p.Q389R	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.A1166G						.						1.0	2.0	1.0					19																	48258717		823	2228	3051	SO:0001583	missense	29997	exon9			GGCGGCAGAGGCG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1166A>G	19.37:g.48258717A>G	ENSP00000246802:p.Gln389Arg	0	0		7	7	NM_015710	0	0	0	0	0	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	1513	0.6927655677655677	424	0.8617886178861789	252	0.6961325966850829	316	0.5524475524475524	521	0.6873350923482849	G	0.092	-1.166361	0.01660	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.39229	1.09	3.93	2.86	0.33363	.	0.430291	0.24226	N	0.040398	T	0.00012	0.0000	N	0.00289	-1.7	0.54753	P	1.2000000000012001E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.35450	-0.9788	9	0.05620	T	0.96	-11.9316	6.8245	0.23874	0.2235:0.0:0.7765:0.0	rs1804994;rs3211363;rs16949619;rs17343460;rs17856180;rs17856325;rs57240470	389	Q9NZM5	GSCR2_HUMAN	R	389;383	ENSP00000246802:Q389R	ENSP00000246802:Q389R	Q	+	2	0	GLTSCR2	52950529	0.025000	0.19082	0.815000	0.32552	0.328000	0.28507	0.153000	0.16323	0.415000	0.25817	-0.231000	0.12243	CAG	A|0.308;G|0.692		0.761	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710	
RPL13A	23521	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	49994074	49994074	+	Missense_Mutation	SNP	C	C	G	rs1061320		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:49994074C>G	ENST00000391857.4	+	5	371	c.295C>G	c.(295-297)Ctg>Gtg	p.L99V	SNORD32A_ENST00000364805.1_RNA|SNORD33_ENST00000362761.1_RNA|SNORD34_ENST00000365633.1_RNA|SNORD35A_ENST00000363389.1_RNA|RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	99					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCAGGCCGCTCTGGACCGTCT	0.612																																					p.L99V		.											.	RPL13A-90	0			c.C295G						.						63.0	59.0	60.0					19																	49994074		2203	4300	6503	SO:0001583	missense	23521	exon5			GCCGCTCTGGACC	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.295C>G	19.37:g.49994074C>G	ENSP00000375730:p.Leu99Val	238	0		201	125	NM_012423	0	0	0	0	0	A8K505	Missense_Mutation	SNP	ENST00000391857.4	37	CCDS12768.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252727	0.59212	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	5.72	0.973	0.19710	Ribosomal protein L13, conserved site (1);Ribosomal protein L13 domain (2);	0.000000	0.53938	U	0.000050	T	0.78407	0.4278	M	0.91561	3.22	0.54753	D	0.999989	P;D	0.57899	0.907;0.981	P;D	0.64237	0.781;0.923	T	0.79135	-0.1928	9	0.87932	D	0	.	9.1502	0.36957	0.0:0.6652:0.0:0.3348	.	99;99	Q5QTS3;P40429	.;RL13A_HUMAN	V	99	.	ENSP00000375730:L99V	L	+	1	2	RPL13A	54685886	0.759000	0.28416	0.943000	0.38184	0.883000	0.51084	0.680000	0.25306	0.283000	0.22279	-0.137000	0.14449	CTG	C|1.000;|0.000		0.612	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1		
SCAF1	58506	hgsc.bcm.edu	37	19	50155523	50155523	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:50155523G>T	ENST00000360565.3	+	7	2001	c.1877G>T	c.(1876-1878)aGg>aTg	p.R626M		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	626	Arg-rich.|Ser-rich.				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)		TCGTCCTCGAGGCGCGAGCGG	0.751																																					p.R626M		.											.	SCAF1-68	0			c.G1877T						.						2.0	2.0	2.0					19																	50155523		1462	3081	4543	SO:0001583	missense	58506	exon7			CCTCGAGGCGCGA	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.1877G>T	19.37:g.50155523G>T	ENSP00000353769:p.Arg626Met	2	0		20	13	NM_021228	0	0	0	0	0	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	G	4.737	0.137053	0.09032	.	.	ENSG00000126461	ENST00000360565	T	0.39056	1.1	3.95	3.95	0.45737	.	0.000000	0.39475	N	0.001357	T	0.47655	0.1457	L	0.27053	0.805	0.20873	N	0.999832	D	0.64830	0.994	D	0.67382	0.951	T	0.33828	-0.9853	9	.	.	.	-21.7886	13.56	0.61784	0.0:0.0:1.0:0.0	.	626	Q9H7N4	SFR19_HUMAN	M	626	ENSP00000353769:R626M	.	R	+	2	0	SCAF1	54847335	0.789000	0.28775	0.398000	0.26321	0.371000	0.29859	-0.626000	0.05527	2.060000	0.61445	0.561000	0.74099	AGG	.		0.751	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228	
CPT1C	126129	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	50209636	50209636	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:50209636G>A	ENST00000392518.4	+	12	1681	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T	CPT1C_ENST00000405931.2_Missense_Mutation_p.A426T|CPT1C_ENST00000323446.5_Missense_Mutation_p.A437T|CPT1C_ENST00000598293.1_Missense_Mutation_p.A437T|CPT1C_ENST00000354199.5_Missense_Mutation_p.A437T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	437					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGATGCCTACGCCCATGCTCT	0.662																																					p.A437T		.											.	CPT1C-92	0			c.G1309A						.						15.0	18.0	17.0					19																	50209636		2191	4280	6471	SO:0001583	missense	126129	exon12			GCCTACGCCCATG	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1309G>A	19.37:g.50209636G>A	ENSP00000376303:p.Ala437Thr	54	1		83	45	NM_001199752	0	0	0	0	0	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978918	0.53827	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	4.36	3.33	0.38152	.	0.000000	0.47455	D	0.000239	D	0.90995	0.7168	L	0.60845	1.875	0.38531	D	0.948966	D;D;D;D	0.76494	0.977;0.999;0.99;0.996	P;P;P;P	0.59825	0.782;0.864;0.601;0.819	D	0.91879	0.5514	10	0.87932	D	0	-24.3638	11.2005	0.48739	0.0921:0.0:0.9079:0.0	.	308;437;426;437	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	T	437;437;426;437;308	ENSP00000376303:A437T;ENSP00000346138:A437T;ENSP00000384465:A426T;ENSP00000319343:A437T	ENSP00000295404:A308T	A	+	1	0	CPT1C	54901448	1.000000	0.71417	0.747000	0.31113	0.009000	0.06853	6.813000	0.75231	1.066000	0.40716	-0.142000	0.14014	GCC	.		0.662	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	
IL4I1	259307	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	50404912	50404912	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:50404912G>T	ENST00000595948.1	-	4	683	c.63C>A	c.(61-63)ccC>ccA	p.P21P	IL4I1_ENST00000341114.3_Silent_p.P21P	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	0						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GCTGCCTCTGGGGGGCTCTCT	0.597																																					p.P21P		.											.	IL4I1-523	0			c.C63A						.						54.0	54.0	54.0					19																	50404912		1703	3042	4745	SO:0001819	synonymous_variant	259307	exon4			CCTCTGGGGGGCT	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000595948.1:c.63C>A	19.37:g.50404912G>T		60	0		81	54	NM_172374	0	0	0	0	0	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000595948.1	37	CCDS12786.1																																																																																			.		0.597	IL4I1-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466416.1		
MYBPC2	4606	hgsc.bcm.edu	37	19	50962397	50962397	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:50962397C>A	ENST00000357701.5	+	23	2676	c.2625C>A	c.(2623-2625)acC>acA	p.T875T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	875	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGTGTGGACCAAGGGCGGGG	0.746																																					p.T875T		.											.	MYBPC2-67	0			c.C2625A						.						7.0	9.0	8.0					19																	50962397		1862	4010	5872	SO:0001819	synonymous_variant	4606	exon23			GTGGACCAAGGGC		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2625C>A	19.37:g.50962397C>A		3	0		41	22	NM_004533	0	0	0	0	0	A1L4G9	Silent	SNP	ENST00000357701.5	37	CCDS46152.1																																																																																			.		0.746	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533	
KLK7	5650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	51480918	51480918	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:51480918T>A	ENST00000391807.1	-	6	737	c.636A>T	c.(634-636)agA>agT	p.R212S	KLK7_ENST00000597707.1_Missense_Mutation_p.R140S|KLK7_ENST00000336317.4_Missense_Mutation_p.R99S|KLK7_ENST00000595820.1_Missense_Mutation_p.R212S|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	212	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GCAGGGTACCTCTGCACACCA	0.517																																					p.R212S		.											.	KLK7-650	0			c.A636T						.						110.0	97.0	101.0					19																	51480918		2203	4300	6503	SO:0001583	missense	5650	exon6			GGTACCTCTGCAC	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.636A>T	19.37:g.51480918T>A	ENSP00000375683:p.Arg212Ser	113	0		99	57	NM_139277	0	0	0	0	0	A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	ENST00000391807.1	37	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	t	15.78	2.933175	0.52866	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	D;T	0.87729	-2.29;3.15	4.9	-3.5	0.04710	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.059090	0.07578	U	0.919848	T	0.73753	0.3627	N	0.11724	0.165	0.28204	N	0.927212	B	0.15930	0.015	B	0.25506	0.061	T	0.62034	-0.6939	10	0.54805	T	0.06	.	6.3035	0.21125	0.4511:0.0:0.3504:0.1985	.	212	P49862	KLK7_HUMAN	S	212;212;99	ENSP00000375683:R212S;ENSP00000337540:R99S	ENSP00000304791:R212S	R	-	3	2	KLK7	56172730	0.619000	0.27059	0.077000	0.20336	0.975000	0.68041	-0.159000	0.10056	-0.289000	0.09038	0.368000	0.22195	AGA	.		0.517	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046	
SIGLEC8	27181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	51958781	51958781	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:51958781C>A	ENST00000321424.3	-	4	1008	c.942G>T	c.(940-942)gaG>gaT	p.E314D	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E221D|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E205D	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	314	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCGAGGCAGCTCCAGCAGCC	0.632																																					p.E314D		.											.	SIGLEC8-94	0			c.G942T						.						48.0	46.0	47.0					19																	51958781		2203	4300	6503	SO:0001583	missense	27181	exon4			AGGCAGCTCCAGC	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.942G>T	19.37:g.51958781C>A	ENSP00000321077:p.Glu314Asp	175	1		152	93	NM_014442	0	0	0	0	0	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	11.77	1.737610	0.30774	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.12255	2.7;2.7;2.7	2.19	-0.0784	0.13715	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37857	N	0.001908	T	0.26085	0.0636	M	0.67397	2.05	0.09310	N	1	D;P;P	0.76494	0.999;0.815;0.91	D;P;P	0.77004	0.989;0.755;0.737	T	0.04191	-1.0970	10	0.52906	T	0.07	.	4.4508	0.11619	0.0:0.6447:0.0:0.3553	.	205;221;314	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	D	205;314;221	ENSP00000389142:E205D;ENSP00000321077:E314D;ENSP00000339448:E221D	ENSP00000321077:E314D	E	-	3	2	SIGLEC8	56650593	0.130000	0.22417	0.005000	0.12908	0.024000	0.10985	-0.459000	0.06728	0.052000	0.16007	0.502000	0.49764	GAG	.		0.632	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
SIGLEC8	27181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	51961365	51961365	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:51961365G>C	ENST00000321424.3	-	1	343	c.277C>G	c.(277-279)Cag>Gag	p.Q93E	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Q93E|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Q93E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	93	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.Q93K(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AATCGGCCCTGGGTCTCTGCC	0.557																																					p.Q93E		.											.	SIGLEC8-94	1	Substitution - Missense(1)	lung(1)	c.C277G						.						192.0	169.0	177.0					19																	51961365		2203	4300	6503	SO:0001583	missense	27181	exon1			GGCCCTGGGTCTC	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.277C>G	19.37:g.51961365G>C	ENSP00000321077:p.Gln93Glu	280	1		177	108	NM_014442	0	0	0	0	0	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	10.42	1.343920	0.24339	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.65364	-0.15;-0.15;-0.15	1.91	-2.46	0.06461	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.119980	0.07016	N	0.826000	T	0.64227	0.2579	M	0.89715	3.055	0.09310	N	1	P;B;B	0.36587	0.559;0.223;0.396	B;B;B	0.37943	0.088;0.058;0.261	T	0.58719	-0.7587	10	0.66056	D	0.02	.	2.7438	0.05262	0.1718:0.0:0.3474:0.4808	.	93;93;93	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	E	93	ENSP00000389142:Q93E;ENSP00000321077:Q93E;ENSP00000339448:Q93E	ENSP00000321077:Q93E	Q	-	1	0	SIGLEC8	56653177	0.000000	0.05858	0.099000	0.21106	0.479000	0.33129	-0.011000	0.12721	-0.488000	0.06726	0.405000	0.27470	CAG	.		0.557	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
FPR2	2358	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	52272299	52272299	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:52272299C>G	ENST00000598776.1	+	2	1160	c.388C>G	c.(388-390)Cca>Gca	p.P130A	FPR2_ENST00000340023.6_Missense_Mutation_p.P130A|FPR2_ENST00000598953.1_Missense_Mutation_p.P130A	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	130					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGTCCTGCATCCAGTCTGGGC	0.498																																					p.P130A		.											.	FPR2-501	0			c.C388G						.						142.0	126.0	131.0					19																	52272299		2203	4300	6503	SO:0001583	missense	2358	exon2			CTGCATCCAGTCT	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.388C>G	19.37:g.52272299C>G	ENSP00000468897:p.Pro130Ala	132	0		106	66	NM_001005738	0	0	0	0	0	A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.117691	0.77323	.	.	ENSG00000171049	ENST00000340023	T	0.60424	0.19	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.71804	0.3383	M	0.68728	2.09	0.46701	D	0.999166	D	0.89917	1.0	D	0.91635	0.999	T	0.73496	-0.3964	10	0.48119	T	0.1	.	13.1307	0.59380	0.0:1.0:0.0:0.0	.	130	P25090	FPR2_HUMAN	A	130	ENSP00000340191:P130A	ENSP00000340191:P130A	P	+	1	0	FPR2	56964111	1.000000	0.71417	0.954000	0.39281	0.961000	0.63080	5.327000	0.65881	2.031000	0.59945	0.491000	0.48974	CCA	.		0.498	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738	
MIR517A	574479	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	54215536	54215536	+	RNA	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:54215536C>A	ENST00000385001.1	+	0	15				MIR524_ENST00000385242.1_RNA|MIR519D_ENST00000385246.1_RNA	NR_030201.1				microRNA 517a																		AGGCAGTGACCCTCTAGATGG	0.493																																					.		.											.	.	0			.						.						121.0	112.0	114.0					19																	54215536		1568	3582	5150			574479	.			AGTGACCCTCTAG			19q13.42	2011-09-12		2008-12-18	ENSG00000207734	ENSG00000207734		"""ncRNAs / Micro RNAs"""	32111	non-coding RNA	RNA, micro				MIRN517A			Standard	NR_030201		Approved	hsa-mir-517a	uc021vae.1				19.37:g.54215536C>A		85	0		86	53	.	0	0	0	0	0		RNA	SNP	ENST00000385001.1	37																																																																																				.		0.493	MIR517A-201	KNOWN	basic	miRNA	miRNA		NR_030201	
LILRB3	11025	bcgsc.ca	37	19	54722275	54722275	+	Silent	SNP	G	G	A	rs1132609	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:54722275G>A	ENST00000391750.1	-	12	1684	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A	LILRA6_ENST00000440558.2_Silent_p.A516A|LILRA6_ENST00000270464.5_Silent_p.A516A|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Silent_p.A516A|LILRB3_ENST00000424807.1_Silent_p.A516A|LILRB3_ENST00000407860.2_Silent_p.A533A|LILRB3_ENST00000346401.6_Silent_p.A528A|LILRB3_ENST00000245620.9_Silent_p.A516A			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	516					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCTTCACGGCAGCATCTG	0.632													.|||	1152	0.230032	0.0166	0.2262	5008	,	,		17986	0.252		0.2883	False		,,,				2504	0.4387				p.A516A		.											.	LILRB3-93	0			c.C1548T						.	G	,	246,4160	142.7+/-177.9	14,218,1971	115.0	100.0	105.0		1548,1548	-6.2	0.0	19	dbSNP_86	105	2593,6007	420.0+/-353.3	403,1787,2110	no	coding-synonymous,coding-synonymous	LILRB3	NM_001081450.1,NM_006864.2	,	417,2005,4081	AA,AG,GG		30.1512,5.5833,21.8284	,	516/633,516/632	54722275	2839,10167	2203	4300	6503	SO:0001819	synonymous_variant	11025	exon11			CTTCACGGCAGCA	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1548C>T	19.37:g.54722275G>A		318	2		261	7	NM_006864	0	0	0	0	0	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																			.		0.632	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	
LILRA6	79168	bcgsc.ca	37	19	54744361	54744361	+	Silent	SNP	A	A	C	rs2361801	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:54744361A>C	ENST00000396365.2	-	6	1086	c.1047T>G	c.(1045-1047)ggT>ggG	p.G349G	LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Silent_p.G349G|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.G349G	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	349	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCAAAATAACCCCGTGACT	0.557													.|||	1979	0.395168	0.3434	0.3818	5008	,	,		18566	0.4514		0.3857	False		,,,				2504	0.4264				p.G349G		.											.	LILRA6-24	0			c.T1047G						.	C		1431,2481		371,689,896	74.0	99.0	91.0		1047	-2.4	0.0	19	dbSNP_100	91	2722,5620		494,1734,1943	no	coding-synonymous	LILRA6	NM_024318.2		865,2423,2839	CC,CA,AA		32.6301,36.5798,33.891		349/482	54744361	4153,8101	1956	4171	6127	SO:0001819	synonymous_variant	79168	exon6			AAAATAACCCCGT	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1047T>G	19.37:g.54744361A>C		513	28		396	31	NM_024318	0	0	0	0	0		Silent	SNP	ENST00000396365.2	37	CCDS42610.1																																																																																			C|0.414;A|0.586		0.557	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	
LILRA6	79168	bcgsc.ca	37	19	54744387	54744387	+	Missense_Mutation	SNP	C	C	T	rs71263238	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:54744387C>T	ENST00000396365.2	-	6	1060	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.V341M|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.V341M	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	341	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCAGGGTCACGTTCTCTCCT	0.582																																					p.V341M		.											.	LILRA6-24	0			c.G1021A						.	C	MET/VAL	1667,2543		384,899,822	40.0	57.0	51.0		1021	1.1	0.4	19	dbSNP_130	51	3076,5426		408,2260,1583	yes	missense	LILRA6	NM_024318.2	21	792,3159,2405	TT,TC,CC		36.1797,39.5962,37.3112		341/482	54744387	4743,7969	2105	4251	6356	SO:0001583	missense	79168	exon6			GGGTCACGTTCTC	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1021G>A	19.37:g.54744387C>T	ENSP00000379651:p.Val341Met	436	4		351	9	NM_024318	0	0	0	0	0		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	744	0.34065934065934067	195	0.39634146341463417	123	0.3397790055248619	162	0.28321678321678323	264	0.3482849604221636	C	13.36	2.213853	0.39102	0.395962	0.361797	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.01215	5.16;5.16;5.16	2.16	1.1	0.20463	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.027150	0.07816	N	0.958912	T	0.00012	0.0000	M	0.86651	2.83	0.31233	P	0.696064	D;D;D	0.89917	1.0;0.974;1.0	P;P;D	0.83275	0.906;0.703;0.996	T	0.44877	-0.9299	9	0.48119	T	0.1	.	4.6406	0.12546	0.0:0.8064:0.0:0.1936	.	341;341;341	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	M	341	ENSP00000411227:V341M;ENSP00000379651:V341M;ENSP00000245621:V341M	ENSP00000245621:V341M	V	-	1	0	LILRA6	59436199	0.006000	0.16342	0.448000	0.26945	0.180000	0.23129	0.793000	0.26944	0.470000	0.27294	0.195000	0.17529	GTG	C|0.659;T|0.341		0.582	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	
LILRA6	79168	broad.mit.edu	37	19	54744441	54744441	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:54744441C>G	ENST00000396365.2	-	6	1006	c.967G>C	c.(967-969)Gac>Cac	p.D323H	LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.D323H|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.D323H	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	323	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGACGGTGTCATAGATCTGT	0.597																																					p.D323H		.											.	LILRA6-24	0			c.G967C						.						12.0	17.0	15.0					19																	54744441		2067	4227	6294	SO:0001583	missense	79168	exon6			CGGTGTCATAGAT	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.967G>C	19.37:g.54744441C>G	ENSP00000379651:p.Asp323His	274	0		232	5	NM_024318	0	0	0	0	0		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	8.501	0.864320	0.17250	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.00784	5.7;5.7;5.7	1.86	-3.72	0.04411	Immunoglobulin-like fold (1);	1.446590	0.04947	N	0.459591	T	0.01061	0.0035	M	0.68728	2.09	0.09310	N	1	B;B;P	0.43314	0.384;0.413;0.803	B;B;B	0.39660	0.306;0.059;0.176	T	0.23404	-1.0189	10	0.49607	T	0.09	.	0.8949	0.01261	0.1801:0.2255:0.3581:0.2363	.	323;323;323	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	H	323	ENSP00000411227:D323H;ENSP00000379651:D323H;ENSP00000245621:D323H	ENSP00000245621:D323H	D	-	1	0	LILRA6	59436253	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.541000	0.02198	-1.737000	0.01350	0.195000	0.17529	GAC	.		0.597	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	
TTYH1	57348	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	54930366	54930366	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:54930366T>C	ENST00000376530.3	+	2	294	c.191T>C	c.(190-192)gTc>gCc	p.V64A	TTYH1_ENST00000376531.3_Missense_Mutation_p.V64A|TTYH1_ENST00000301194.4_Missense_Mutation_p.V64A|TTYH1_ENST00000391739.3_Missense_Mutation_p.V113A	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	64					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TTCATCGCTGTCTACCTCATC	0.687																																					p.V64A		.											.	TTYH1-90	0			c.T191C						.						64.0	65.0	65.0					19																	54930366		2203	4299	6502	SO:0001583	missense	57348	exon2			TCGCTGTCTACCT	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.191T>C	19.37:g.54930366T>C	ENSP00000365713:p.Val64Ala	59	0		57	39	NM_020659	0	0	0	0	0	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.385069	0.61956	.	.	ENSG00000167614	ENST00000444661;ENST00000423529;ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	3.5	2.48	0.30137	.	0.303928	0.27420	N	0.019453	T	0.17492	0.0420	N	0.25286	0.73	0.28299	N	0.923195	D;D;D;D	0.69078	0.997;0.981;0.99;0.997	D;P;P;D	0.79108	0.992;0.529;0.624;0.992	T	0.07385	-1.0775	10	0.23891	T	0.37	-23.0555	6.9206	0.24385	0.0:0.1154:0.0:0.8846	.	113;64;64;64	B7Z1H9;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	A	36;60;64;64;113;113;64	ENSP00000391282:V60A;ENSP00000301194:V64A;ENSP00000365713:V64A;ENSP00000393592:V113A;ENSP00000375619:V113A;ENSP00000365714:V64A	ENSP00000301194:V64A	V	+	2	0	TTYH1	59622178	0.999000	0.42202	0.999000	0.59377	0.993000	0.82548	1.062000	0.30555	0.557000	0.29117	0.454000	0.30748	GTC	.		0.687	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1		
NLRP7	199713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	55451819	55451819	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:55451819C>A	ENST00000590030.1	-	3	408	c.368G>T	c.(367-369)tGg>tTg	p.W123L	NLRP7_ENST00000588756.1_Missense_Mutation_p.W123L|NLRP7_ENST00000592784.1_Missense_Mutation_p.W123L|NLRP7_ENST00000446217.1_Missense_Mutation_p.W151L|NLRP7_ENST00000328092.5_Missense_Mutation_p.W123L|NLRP7_ENST00000340844.2_Missense_Mutation_p.W123L|NLRP7_ENST00000448121.2_Missense_Mutation_p.W123L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	123							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGAATTTCTCCATCCTTCCTT	0.438																																					p.W123L		.											.	NLRP7-291	0			c.G368T						.						258.0	286.0	277.0					19																	55451819		2203	4300	6503	SO:0001583	missense	199713	exon4			TTTCTCCATCCTT	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.368G>T	19.37:g.55451819C>A	ENSP00000465520:p.Trp123Leu	41	0		40	26	NM_001127255	0	0	0	0	0	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.352010	0.01256	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.72835	-0.64;-0.64;-0.69;-0.68	1.72	-2.66	0.06077	.	.	.	.	.	T	0.40015	0.1100	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.0;0.0;0.0;0.005	B;B;B;B	0.12156	0.0;0.0;0.0;0.007	T	0.20940	-1.0260	9	0.12766	T	0.61	.	2.981	0.05953	0.0:0.3644:0.2418:0.3938	.	151;123;123;123	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	L	123;123;123;151	ENSP00000329568:W123L;ENSP00000409137:W123L;ENSP00000339491:W123L;ENSP00000414273:W151L	ENSP00000329568:W123L	W	-	2	0	NLRP7	60143631	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.508000	0.02266	-0.784000	0.04528	-0.253000	0.11424	TGG	.		0.438	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP2	55655	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	55481494	55481494	+	Missense_Mutation	SNP	C	C	A	rs367922223		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:55481494C>A	ENST00000543010.1	+	2	254	c.111C>A	c.(109-111)caC>caA	p.H37Q	NLRP2_ENST00000538819.1_Missense_Mutation_p.H37Q|NLRP2_ENST00000537859.1_Missense_Mutation_p.H37Q|NLRP2_ENST00000448584.2_Missense_Mutation_p.H37Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.H37Q|NLRP2_ENST00000339757.7_Missense_Mutation_p.H37Q|NLRP2_ENST00000391721.4_Missense_Mutation_p.H37Q|NLRP2_ENST00000263437.6_Missense_Mutation_p.H37Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	37	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCCTGGCACACGAGCTCCAGA	0.557																																					p.H37Q		.											.	NLRP2-120	0			c.C111A						.						105.0	92.0	97.0					19																	55481494		2203	4300	6503	SO:0001583	missense	55655	exon2			GGCACACGAGCTC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.111C>A	19.37:g.55481494C>A	ENSP00000445135:p.His37Gln	179	2		160	90	NM_001174082	0	0	0	0	0	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	c	3.156	-0.173082	0.06421	.	.	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T;T	0.57107	0.9;0.9;0.9;0.9;0.9;0.9;0.42;0.9;0.9	1.88	-1.74	0.08056	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.23806	0.0576	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.12630	0.003;0.005;0.006;0.005;0.006	B;B;B;B;B	0.20184	0.001;0.006;0.017;0.01;0.028	T	0.20538	-1.0272	9	0.13470	T	0.59	.	2.9449	0.05842	0.0:0.3404:0.2531:0.4064	.	37;37;37;37;37	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	Q	37	ENSP00000443519:H37Q;ENSP00000445135:H37Q;ENSP00000375601:H37Q;ENSP00000344074:H37Q;ENSP00000409370:H37Q;ENSP00000440601:H37Q;ENSP00000402474:H37Q;ENSP00000441133:H37Q;ENSP00000263437:H37Q	ENSP00000263437:H37Q	H	+	3	2	NLRP2	60173306	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.442000	0.02407	-0.591000	0.05859	-0.599000	0.04106	CAC	.		0.557	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
NLRP4	147945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	56369475	56369475	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:56369475G>C	ENST00000301295.6	+	3	1138	c.716G>C	c.(715-717)gGc>gCc	p.G239A	NLRP4_ENST00000346986.5_Missense_Mutation_p.G239A|NLRP4_ENST00000587891.1_Missense_Mutation_p.G164A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	239	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGCAGGGCGGCTTGAACGAA	0.562																																					p.G239A		.											.	NLRP4-216	0			c.G716C						.						81.0	83.0	83.0					19																	56369475		2203	4300	6503	SO:0001583	missense	147945	exon3			AGGGCGGCTTGAA	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.716G>C	19.37:g.56369475G>C	ENSP00000301295:p.Gly239Ala	146	0		109	64	NM_134444	0	0	0	0	0	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	8.574	0.880708	0.17467	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.77229	-1.08;-1.08	4.1	-4.42	0.03579	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.43964	0.1271	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.33883	0.026;0.43;0.336	B;B;B	0.33960	0.059;0.108;0.173	T	0.46005	-0.9222	9	0.10636	T	0.68	.	6.8017	0.23754	0.4968:0.3252:0.178:0.0	.	239;164;239	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	A	239	ENSP00000301295:G239A;ENSP00000344787:G239A	ENSP00000301295:G239A	G	+	2	0	NLRP4	61061287	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.200000	0.09478	-0.919000	0.03803	-1.202000	0.01658	GGC	.		0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP8	126205	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	56466259	56466259	+	Missense_Mutation	SNP	G	G	T	rs544368279		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:56466259G>T	ENST00000291971.3	+	3	906	c.835G>T	c.(835-837)Gac>Tac	p.D279Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.D279Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	279	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTCCAAACCCGACCAACTTCT	0.522																																					p.D279Y		.											.	NLRP8-361	0			c.G835T						.						185.0	181.0	183.0					19																	56466259		2203	4300	6503	SO:0001583	missense	126205	exon3			AAACCCGACCAAC	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.835G>T	19.37:g.56466259G>T	ENSP00000291971:p.Asp279Tyr	139	1		96	58	NM_176811	0	0	0	0	0	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990187	0.35131	.	.	ENSG00000179709	ENST00000291971	T	0.24723	1.84	2.04	2.04	0.26737	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.38401	0.1039	L	0.46157	1.445	0.09310	N	0.999999	D;D	0.76494	0.999;0.993	D;D	0.68943	0.961;0.934	T	0.07121	-1.0789	9	0.72032	D	0.01	.	7.6199	0.28179	0.0:0.0:1.0:0.0	.	279;279	Q86W28-2;Q86W28	.;NALP8_HUMAN	Y	279	ENSP00000291971:D279Y	ENSP00000291971:D279Y	D	+	1	0	NLRP8	61158071	0.122000	0.22280	0.008000	0.14137	0.143000	0.21401	1.343000	0.33930	1.453000	0.47775	0.514000	0.50259	GAC	.		0.522	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
NLRP8	126205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	56466706	56466706	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:56466706G>T	ENST00000291971.3	+	3	1353	c.1282G>T	c.(1282-1284)Gtc>Ttc	p.V428F	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.V428I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTCGTCCGGTATAT	0.498																																					p.V428F		.											.	NLRP8-361	1	Substitution - Missense(1)	kidney(1)	c.G1282T						.						88.0	90.0	90.0					19																	56466706		2203	4300	6503	SO:0001583	missense	126205	exon3			GTGTTCGTCCGGT	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1282G>T	19.37:g.56466706G>T	ENSP00000291971:p.Val428Phe	126	0		88	47	NM_176811	0	0	0	0	0	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395090	0.25205	.	.	ENSG00000179709	ENST00000291971	D	0.84660	-1.88	1.78	-1.96	0.07525	.	.	.	.	.	D	0.86686	0.5992	L	0.54323	1.7	0.09310	N	1	P;D	0.63880	0.837;0.993	B;D	0.65573	0.424;0.936	T	0.76072	-0.3093	9	0.66056	D	0.02	.	5.2449	0.15490	0.6082:0.0:0.3918:0.0	.	428;428	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	428	ENSP00000291971:V428F	ENSP00000291971:V428F	V	+	1	0	NLRP8	61158518	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.089000	0.15002	-0.472000	0.06881	-0.346000	0.07831	GTC	.		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
NLRP5	126206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org|broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	56539330	56539331	+	Nonsense_Mutation	DNP	GG	GG	CT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G|	G|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:56539330_56539331GG>CT	ENST00000390649.3	+	7	1731_1732	c.1731_1732GG>CT	c.(1729-1734)gaGGag>gaCTag	p.577_578EE>D*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	577	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCCACTGTGAGGAGTACTACAC	0.545																																					p.E577D|p.E578X		.											.	NLRP5-162	0			c.G1731C|c.G1732T						.																																			SO:0001587	stop_gained	126206	exon7			CTGTGAGGAGTAC|TGTGAGGAGTACT	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	Exception_encountered	19.37:g.56539330_56539331delinsCT	ENSP00000375063:p.E577_E578delinsD*	157|160	1		143|141	81|79	NM_153447	0	0	0	0	0	A8MTY4|Q86W29	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																			.		0.545	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
NLRP5	126206	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	56569695	56569695	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:56569695T>A	ENST00000390649.3	+	14	3389	c.3389T>A	c.(3388-3390)gTg>gAg	p.V1130E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1130					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTAAACCTGGTGCAGAATAAC	0.502																																					p.V1130E		.											.	NLRP5-162	0			c.T3389A						.						126.0	123.0	124.0					19																	56569695		2028	4195	6223	SO:0001583	missense	126206	exon14			ACCTGGTGCAGAA	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3389T>A	19.37:g.56569695T>A	ENSP00000375063:p.Val1130Glu	94	1		94	54	NM_153447	0	0	0	0	0	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	T	9.141	1.013954	0.19277	.	.	ENSG00000171487	ENST00000390649	T	0.51325	0.71	3.36	1.25	0.21368	.	0.485205	0.15335	N	0.267815	T	0.24314	0.0589	N	0.19112	0.55	0.09310	N	1	P	0.46859	0.885	B	0.34873	0.191	T	0.13495	-1.0507	10	0.62326	D	0.03	.	5.3772	0.16172	0.0:0.2383:0.0:0.7617	.	1130	P59047	NALP5_HUMAN	E	1130	ENSP00000375063:V1130E	ENSP00000375063:V1130E	V	+	2	0	NLRP5	61261507	0.010000	0.17322	0.003000	0.11579	0.007000	0.05969	-0.045000	0.12003	0.186000	0.20125	-1.145000	0.01858	GTG	.		0.502	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
PEG3	5178	ucsc.edu;bcgsc.ca	37	19	57325099	57325099	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:57325099G>C	ENST00000326441.9	-	10	5074	c.4711C>G	c.(4711-4713)Cag>Gag	p.Q1571E	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q1447E|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q1571E|PEG3_ENST00000593695.1_Missense_Mutation_p.Q1445E	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1571					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)		TTGAAGAGCTGCCCACAGACG	0.542																																					p.Q1571E		.											.	PEG3-164	0			c.C4711G						.						118.0	102.0	108.0					19																	57325099		2203	4300	6503	SO:0001583	missense	5178	exon9			AGAGCTGCCCACA	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.4711C>G	19.37:g.57325099G>C	ENSP00000326581:p.Gln1571Glu	249	2		165	90	NM_001146184	0	0	0	0	0	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268075	0.59540	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.50001	0.76;0.76	4.09	4.09	0.47781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001069	T	0.46092	0.1375	N	0.11201	0.11	.	.	.	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.68765	0.96;0.96;0.96	T	0.58188	-0.7680	9	0.48119	T	0.1	-32.1392	12.1124	0.53846	0.0:0.0:1.0:0.0	.	1447;1571;1506	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	E	1571	ENSP00000326581:Q1571E;ENSP00000403051:Q1571E	ENSP00000326581:Q1571E	Q	-	1	0	ZIM2	62016911	0.995000	0.38212	1.000000	0.80357	0.778000	0.44026	1.876000	0.39588	2.569000	0.86673	0.591000	0.81541	CAG	.		0.542	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	57334984	57334984	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:57334984G>T	ENST00000326441.9	-	5	821	c.458C>A	c.(457-459)cCa>cAa	p.P153Q	ZIM2_ENST00000221722.5_Missense_Mutation_p.P27Q|ZIM2_ENST00000601070.1_Missense_Mutation_p.P27Q|PEG3_ENST00000598410.1_Missense_Mutation_p.P27Q|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000391708.3_Missense_Mutation_p.P27Q|ZIM2_ENST00000599935.1_Missense_Mutation_p.P27Q|ZIM2_ENST00000593711.1_Missense_Mutation_p.P27Q|PEG3_ENST00000423103.2_Missense_Mutation_p.P153Q|PEG3_ENST00000593695.1_Missense_Mutation_p.P27Q|ZIM2_ENST00000593931.1_Missense_Mutation_p.P27Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	153					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)		TGAGTGAGGTGGTGAGGACTC	0.562																																					p.P153Q		.											.	PEG3-164	0			c.C458A						.						296.0	210.0	239.0					19																	57334984		2203	4300	6503	SO:0001583	missense	5178	exon4			TGAGGTGGTGAGG	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.458C>A	19.37:g.57334984G>T	ENSP00000326581:p.Pro153Gln	217	0		166	92	NM_001146184	0	0	0	0	0	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436478	0.43224	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.11277	2.79;2.79;4.0;4.0	4.15	2.0	0.26442	.	0.316966	0.23183	N	0.050994	T	0.13157	0.0319	L	0.34521	1.04	.	.	.	B;B;D;B	0.65815	0.235;0.096;0.995;0.352	B;B;P;B	0.56278	0.041;0.06;0.795;0.077	T	0.12041	-1.0563	9	0.49607	T	0.09	-8.6804	5.1933	0.15223	0.1051:0.0:0.6924:0.2025	.	27;153;86;27	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	Q	27;27;153;153;153	ENSP00000375589:P27Q;ENSP00000221722:P27Q;ENSP00000326581:P153Q;ENSP00000403051:P153Q	ENSP00000221722:P27Q	P	-	2	0	ZIM2	62026796	0.047000	0.20315	0.006000	0.13384	0.001000	0.01503	1.388000	0.34442	0.696000	0.31696	-0.894000	0.02916	CCA	.		0.562	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
DUXA	503835	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	57672059	57672059	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:57672059G>T	ENST00000554048.2	-	2	131	c.132C>A	c.(130-132)acC>acA	p.T44T		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTTTTTGTTTGGTAGCATAAC	0.378																																					p.T44T		.											.	DUXA-91	0			c.C132A						.						154.0	148.0	150.0					19																	57672059		2203	4300	6503	SO:0001819	synonymous_variant	503835	exon2			TTGTTTGGTAGCA		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.132C>A	19.37:g.57672059G>T		45	1		54	29	NM_001012729	0	0	0	0	0		Silent	SNP	ENST00000554048.2	37	CCDS33126.1																																																																																			.		0.378	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729	
AURKC	6795	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	57746327	57746327	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:57746327delG	ENST00000302804.7	+	6	846	c.660delG	c.(658-660)gtgfs	p.V220fs	AURKC_ENST00000599062.1_Frame_Shift_Del_p.V217fs|AURKC_ENST00000598785.1_Frame_Shift_Del_p.V186fs|AURKC_ENST00000415300.2_Frame_Shift_Del_p.V201fs|AURKC_ENST00000448930.1_Frame_Shift_Del_p.V186fs	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ATGAAAAGGTGGATTTGTGGT	0.502																																					p.V220fs		.											.	AURKC-1560	0			c.660delG						.						161.0	130.0	141.0					19																	57746327		2203	4300	6503	SO:0001589	frameshift_variant	6795	exon6			AAAGGTGGATTTG		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.660delG	19.37:g.57746327delG	ENSP00000302898:p.Val220fs	188	0		137	61	NM_001015878	0	0	0	0	0	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Frame_Shift_Del	DEL	ENST00000302804.7	37	CCDS33128.1																																																																																			.		0.502	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160	
ZNF17	7565	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	57932542	57932542	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:57932542G>T	ENST00000601808.1	+	3	1895	c.1682G>T	c.(1681-1683)aGa>aTa	p.R561I	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.R563I	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GAGTGTGGGAGAGTTTTTAGC	0.398																																					p.R561I	Melanoma(149;1637 1853 29914 42869 44988)	.											.	ZNF17-90	0			c.G1682T						.						51.0	52.0	51.0					19																	57932542		2041	4214	6255	SO:0001583	missense	7565	exon3			GTGGGAGAGTTTT	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1682G>T	19.37:g.57932542G>T	ENSP00000471905:p.Arg561Ile	91	1		68	44	NM_006959	0	0	0	0	0	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344447	0.61073	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.35	-1.69	0.08186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47002	0.1422	L	0.45422	1.42	0.20563	N	0.999886	D;D	0.71674	0.998;0.977	P;P	0.62184	0.899;0.637	T	0.41324	-0.9515	8	0.87932	D	0	.	6.7629	0.23550	0.609:0.0:0.391:0.0	.	563;561	P17021-2;P17021	.;ZNF17_HUMAN	I	561	.	ENSP00000302455:R561I	R	+	2	0	ZNF17	62624354	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	0.236000	0.17967	-0.650000	0.05423	0.467000	0.42956	AGA	.		0.398	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959	
ZNF530	348327	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	58117486	58117486	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:58117486G>C	ENST00000332854.6	+	3	813	c.593G>C	c.(592-594)aGg>aCg	p.R198T	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCACACAGCAGGATTAGACAC	0.473																																					p.R198T		.											.	ZNF530-90	0			c.G593C						.						92.0	95.0	94.0					19																	58117486		2203	4300	6503	SO:0001583	missense	348327	exon3			ACAGCAGGATTAG	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.593G>C	19.37:g.58117486G>C	ENSP00000332861:p.Arg198Thr	119	1		95	63	NM_020880	0	0	0	0	0	O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	0.166	-1.076619	0.01903	.	.	ENSG00000183647	ENST00000332854	T	0.14893	2.47	1.73	-0.506	0.11989	.	.	.	.	.	T	0.11281	0.0275	L	0.34521	1.04	0.09310	N	1	B	0.17268	0.021	B	0.20184	0.028	T	0.32161	-0.9917	9	0.45353	T	0.12	.	4.1039	0.10028	0.406:0.0:0.594:0.0	.	198	Q6P9A1	ZN530_HUMAN	T	198	ENSP00000332861:R198T	ENSP00000332861:R198T	R	+	2	0	ZNF530	62809298	0.004000	0.15560	0.004000	0.12327	0.017000	0.09413	0.805000	0.27112	-0.056000	0.13221	-0.346000	0.07831	AGG	.		0.473	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880	
ZNF211	10520	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	58152335	58152335	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:58152335G>A	ENST00000347302.3	+	3	660	c.481G>A	c.(481-483)Gca>Aca	p.A161T	ZNF211_ENST00000240731.4_Missense_Mutation_p.A174T|ZNF211_ENST00000544273.1_Missense_Mutation_p.A173T|ZNF211_ENST00000541801.1_Missense_Mutation_p.A152T|ZNF211_ENST00000420680.1_Missense_Mutation_p.A165T|ZNF211_ENST00000391703.3_Missense_Mutation_p.A100T|ZNF211_ENST00000299871.5_Missense_Mutation_p.A226T|ZNF211_ENST00000254182.7_Missense_Mutation_p.A152T	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	161					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.A174T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTACAGAGGCACCTTTCAG	0.463																																					p.A226T		.											.	ZNF211-92	1	Substitution - Missense(1)	lung(1)	c.G676A						.						105.0	92.0	97.0					19																	58152335		2203	4300	6503	SO:0001583	missense	10520	exon5			ACAGAGGCACCTT	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.481G>A	19.37:g.58152335G>A	ENSP00000339562:p.Ala161Thr	167	1		119	71	NM_001265597	0	0	0	0	0	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.08|12.08	1.829632|1.829632	0.32329|0.32329	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.14893|.	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47|.	2.97|2.97	-4.95|-4.95	0.03048|0.03048	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B;B;P;P;B;B|.	0.46220|.	0.119;0.119;0.763;0.874;0.072;0.072|.	B;B;B;B;B;B|.	0.40477|.	0.035;0.025;0.229;0.33;0.015;0.015|.	T|T	0.29941|0.29941	-0.9995|-0.9995	9|5	0.72032|.	D|.	0.01|.	.|.	6.3299|6.3299	0.21264|0.21264	0.5906:0.1248:0.2846:0.0|0.5906:0.1248:0.2846:0.0	.|.	165;173;226;152;161;174|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	T|D	165;161;152;100;152;226;173;174|164	ENSP00000399193:A165T;ENSP00000339562:A161T;ENSP00000254182:A152T;ENSP00000375584:A100T;ENSP00000442601:A152T;ENSP00000299871:A226T;ENSP00000441386:A173T;ENSP00000240731:A174T|.	ENSP00000240731:A174T|.	A|G	+|+	1|2	0|0	ZNF211|ZNF211	62844147|62844147	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	0.287000|0.287000	0.18920|0.18920	-1.236000|-1.236000	0.02542|0.02542	-0.191000|-0.191000	0.12829|0.12829	GCA|GGC	.		0.463	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1		
ZNF551	90233	broad.mit.edu;bcgsc.ca	37	19	58199642	58199642	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:58199642G>A	ENST00000282296.5	+	3	2184	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.E651K			Q7Z340	ZN551_HUMAN	zinc finger protein 551	667					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTTCACACTGAAGAAAGGCC	0.408																																					p.E667K		.											.	ZNF551-91	0			c.G1999A						.						78.0	76.0	77.0					19																	58199642		2203	4300	6503	SO:0001583	missense	90233	exon3			CACACTGAAGAAA	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1999G>A	19.37:g.58199642G>A	ENSP00000282296:p.Glu667Lys	79	2		46	21	NM_138347	0	0	0	0	0	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	6.566	0.472749	0.12461	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.46	0.116	0.14647	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18964	0.0455	N	0.17594	0.5	0.22787	N	0.998734	B	0.25955	0.138	B	0.25987	0.065	T	0.24512	-1.0158	8	0.62326	D	0.03	.	1.945	0.03355	0.126:0.1991:0.4716:0.2033	.	667	Q7Z340	ZN551_HUMAN	K	667;651	.	ENSP00000282296:E651K	E	+	1	0	ZNF551	62891454	0.000000	0.05858	0.009000	0.14445	0.033000	0.12548	0.483000	0.22292	-0.026000	0.13895	-0.309000	0.09137	GAA	.		0.408	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347	
A1BG	1	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58864353	58864353	+	Missense_Mutation	SNP	C	C	T	rs533605370		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:58864353C>T	ENST00000263100.3	-	3	342	c.281G>A	c.(280-282)cGc>cAc	p.R94H	A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	94	Ig-like V-type 1.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R94H(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CAAGCCCGAGCGGCAGCGGTA	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15020	0.0		0.0	False		,,,				2504	0.0				p.R94H		.											.	A1BG-90	1	Substitution - Missense(1)	cervix(1)	c.G281A						.						46.0	53.0	51.0					19																	58864353		2203	4300	6503	SO:0001583	missense	1	exon3			CCCGAGCGGCAGC		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.281G>A	19.37:g.58864353C>T	ENSP00000263100:p.Arg94His	121	0		90	25	NM_130786	0	0	0	0	0	A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989526	0.35131	.	.	ENSG00000121410	ENST00000263100	T	0.14766	2.48	3.52	1.34	0.21922	Immunoglobulin-like fold (1);	0.547744	0.15170	N	0.276722	T	0.17450	0.0419	L	0.47716	1.5	0.23972	N	0.996302	D	0.62365	0.991	P	0.56163	0.793	T	0.14783	-1.0460	10	0.17832	T	0.49	.	6.0556	0.19809	0.0:0.7583:0.0:0.2417	.	94	P04217	A1BG_HUMAN	H	94	ENSP00000263100:R94H	ENSP00000263100:R94H	R	-	2	0	A1BG	63556165	0.025000	0.19082	0.314000	0.25224	0.022000	0.10575	-0.148000	0.10219	0.473000	0.27368	0.563000	0.77884	CGC	.		0.637	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786	
SNTG2	54221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	1094065	1094065	+	Silent	SNP	C	C	G	rs369324271		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:1094065C>G	ENST00000308624.5	+	4	423	c.294C>G	c.(292-294)gtC>gtG	p.V98V	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	98	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACGTCCCTGTCGTCATATCAA	0.383																																					p.V98V		.											.	SNTG2-136	0			c.C294G						.						117.0	111.0	113.0					2																	1094065		1884	4106	5990	SO:0001819	synonymous_variant	54221	exon4			CCCTGTCGTCATA	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.294C>G	2.37:g.1094065C>G		149	0		120	44	NM_018968	0	0	0	0	0	Q05AH5	Silent	SNP	ENST00000308624.5	37	CCDS46220.1																																																																																			.		0.383	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	
TPO	7173	hgsc.bcm.edu	37	2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	rs2175977	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000382198.1_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000349624.3_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.S398T|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2.0	2.0	2.0		1193,1193,1193,1193,1193,	4.1	1.0	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	0	0		11	9	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
MYT1L	23040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca|broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	1926733	1926734	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G|	G|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:1926733_1926734GG>TT	ENST00000399161.2	-	10	1554_1555	c.807_808CC>AA	c.(805-810)gcCCaa>gcAAaa	p.Q270K	MYT1L_ENST00000428368.2_Missense_Mutation_p.Q270K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	270					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCGTGTCCTTGGGCTAATAGTT	0.411																																					p.Q270K|p.A269A		.											.	MYT1L-95	0			c.C808A|c.C807A						.																																			SO:0001583	missense	23040	exon10			GTCCTTGGGCTAA|TCCTTGGGCTAAT	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.807_808delinsTT	2.37:g.1926733_1926734delinsTT	ENSP00000382114:p.Gln270Lys	280	1|2		237|239	92|91	NM_015025	0	0	0	0	0	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation|Silent	SNP	ENST00000399161.2	37																																																																																				.		0.411	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
TSSC1	7260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	3197900	3197900	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:3197900C>T	ENST00000382125.4	-	7	883	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000398659.4_Missense_Mutation_p.V258M	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	231										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		AGGTCCCGCACCAGCTGTCCG	0.502																																					p.V231M	Colon(140;1261 1762 4183 34270 49743)	.											.	TSSC1-90	0			c.G691A						.						92.0	96.0	95.0					2																	3197900		2203	4300	6503	SO:0001583	missense	7260	exon7			CCCGCACCAGCTG	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.691G>A	2.37:g.3197900C>T	ENSP00000371559:p.Val231Met	77	0		82	27	NM_003310	0	0	0	0	0	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730076	0.89390	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000441271	T;T;T	0.73897	-0.79;-0.79;-0.79	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.111999	0.64402	D	0.000012	T	0.77505	0.4140	M	0.83603	2.65	0.80722	D	1	B	0.30511	0.282	B	0.28638	0.092	T	0.77930	-0.2403	10	0.48119	T	0.1	-20.2698	17.9257	0.88982	0.0:1.0:0.0:0.0	.	231	Q53HC9	TSSC1_HUMAN	M	231;258;80	ENSP00000371559:V231M;ENSP00000381652:V258M;ENSP00000393350:V80M	ENSP00000371559:V231M	V	-	1	0	TSSC1	3176907	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.758000	0.68776	2.458000	0.83093	0.655000	0.94253	GTG	.		0.502	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310	
TRAPPC12	51112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	3447573	3447573	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:3447573C>G	ENST00000324266.5	+	6	1636	c.1441C>G	c.(1441-1443)Cgc>Ggc	p.R481G	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R481G|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	481					vesicle-mediated transport (GO:0016192)												CTTCTCGATGCGCATCTTGCA	0.547																																					p.R481G		.											.	.	0			c.C1441G						.						114.0	98.0	104.0					2																	3447573		2202	4300	6502	SO:0001583	missense	51112	exon6			TCGATGCGCATCT	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1441C>G	2.37:g.3447573C>G	ENSP00000324318:p.Arg481Gly	194	0		163	66	NM_016030	0	0	0	0	0	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.55|19.55|19.55	3.848660|3.848660|3.848660	0.71603|0.71603|0.71603	.|.|.	.|.|.	ENSG00000171853|ENSG00000171853|ENSG00000171853	ENST00000433382|ENST00000441983|ENST00000382110;ENST00000304601;ENST00000324266	.|.|T;T	.|.|0.61742	.|.|0.08;0.08	5.36|5.36|5.36	4.4|4.4|4.4	0.53042|0.53042|0.53042	.|.|.	.|.|0.066546	.|.|0.64402	.|.|D	.|.|0.000012	T|T|T	0.77831|0.77831|0.77831	0.4189|0.4189|0.4189	M|M|M	0.89287|0.89287|0.89287	3.02|3.02|3.02	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|.|D;D	.|.|0.89917	.|.|1.0;0.999	.|.|D;D	.|.|0.77557	.|.|0.99;0.981	T|T|T	0.81805|0.81805|0.81805	-0.0764|-0.0764|-0.0764	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	12.2188|12.2188|12.2188	0.54423|0.54423|0.54423	0.2044:0.7956:0.0:0.0|0.2044:0.7956:0.0:0.0|0.2044:0.7956:0.0:0.0	.|.|.	.|.|464;481	.|.|E7ENL7;Q8WVT3	.|.|.;TPC12_HUMAN	G|W|G	26|160|481;464;481	.|.|ENSP00000371544:R481G;ENSP00000324318:R481G	.|.|ENSP00000303612:R464G	A|C|R	+|+|+	2|3|1	0|2|0	TTC15|TTC15|TTC15	3426580|3426580|3426580	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.995000|0.995000|0.995000	0.50966|0.50966|0.50966	0.965000|0.965000|0.965000	0.64279|0.64279|0.64279	1.482000|1.482000|1.482000	0.35486|0.35486|0.35486	2.504000|2.504000|2.504000	0.84457|0.84457|0.84457	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GCG|TGC|CGC	.		0.547	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	
SOX11	6664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	5834070	5834070	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:5834070G>T	ENST00000322002.3	+	1	1272	c.1217G>T	c.(1216-1218)aGc>aTc	p.S406I	AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC010729.1_ENST00000455579.2_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	406					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCGAGGGCAGCCTGGGCTCC	0.672																																					p.S406I		.											.	SOX11-514	0			c.G1217T						.						15.0	11.0	12.0					2																	5834070		1967	3753	5720	SO:0001583	missense	6664	exon1			AGGGCAGCCTGGG		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.1217G>T	2.37:g.5834070G>T	ENSP00000322568:p.Ser406Ile	156	0		200	45	NM_003108	0	0	0	0	0	Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297134	0.81025	.	.	ENSG00000176887	ENST00000322002	D	0.98947	-5.26	4.91	4.91	0.64330	.	0.000000	0.85682	U	0.000000	D	0.99055	0.9676	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99831	1.1054	10	0.66056	D	0.02	.	18.0824	0.89445	0.0:0.0:1.0:0.0	.	406	P35716	SOX11_HUMAN	I	406	ENSP00000322568:S406I	ENSP00000322568:S406I	S	+	2	0	SOX11	5751521	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.514000	0.98013	2.276000	0.75962	0.561000	0.74099	AGC	.		0.672	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108	
CMPK2	129607	hgsc.bcm.edu	37	2	7005369	7005369	+	Silent	SNP	A	A	G	rs11678810	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000458098.1_Silent_p.C153C|CMPK2_ENST00000404168.1_Silent_p.C153C|CMPK2_ENST00000478738.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1.0	5008	,	,		10694	1.0		1.0	False		,,,				2504	1.0				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3.0	4.0	4.0		459	1.6	0.0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		0	0		5	5	NM_001256478	0	0	0	0	0	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315	
FAM84A	151354	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	14774305	14774305	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:14774305C>A	ENST00000295092.2	+	2	490	c.202C>A	c.(202-204)Ccc>Acc	p.P68T	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.P68T	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	68										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CCCGGAGAGCCCCAGCCGCCA	0.627																																					p.P68T		.											.	FAM84A-91	0			c.C202A						.						18.0	22.0	21.0					2																	14774305		2203	4299	6502	SO:0001583	missense	151354	exon2			GAGAGCCCCAGCC	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.202C>A	2.37:g.14774305C>A	ENSP00000295092:p.Pro68Thr	86	0		73	29	NM_145175	0	0	0	0	0	A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913803	0.52439	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.16457	2.34;2.34	4.96	4.96	0.65561	.	0.390682	0.21726	N	0.070048	T	0.13457	0.0326	N	0.22421	0.69	0.46823	D	0.999213	B	0.29253	0.239	B	0.24974	0.057	T	0.07177	-1.0786	10	0.51188	T	0.08	-19.2698	15.7236	0.77736	0.0:1.0:0.0:0.0	.	68	Q96KN4	FA84A_HUMAN	T	68	ENSP00000295092:P68T;ENSP00000330681:P68T	ENSP00000295092:P68T	P	+	1	0	FAM84A	14691756	0.954000	0.32549	1.000000	0.80357	0.994000	0.84299	3.077000	0.50089	2.426000	0.82243	0.655000	0.94253	CCC	.		0.627	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175	
NBAS	51594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	15372587	15372587	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:15372587C>A	ENST00000281513.5	-	47	6220	c.6195G>T	c.(6193-6195)ctG>ctT	p.L2065L	NBAS_ENST00000441750.1_Silent_p.L1945L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2065					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAACACCTTCCAGGACCTTCA	0.473																																					p.L2065L		.											.	NBAS-94	0			c.G6195T						.						107.0	82.0	91.0					2																	15372587		2203	4300	6503	SO:0001819	synonymous_variant	51594	exon47			ACCTTCCAGGACC	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6195G>T	2.37:g.15372587C>A		85	0		96	33	NM_015909	0	0	0	0	0	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	2.890	-0.229782	0.06022	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.67	1.48	0.22813	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22382	-1.0218	4	.	.	.	.	2.933	0.05805	0.3314:0.4209:0.1111:0.1366	.	.	.	.	L	1113	.	.	W	-	2	0	NBAS	15290038	0.971000	0.33674	1.000000	0.80357	0.308000	0.27856	-0.008000	0.12788	0.286000	0.22352	0.655000	0.94253	TGG	.		0.473	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
FAM49A	81553	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	16743378	16743378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:16743378delC	ENST00000381323.3	-	6	550	c.330delG	c.(328-330)ctgfs	p.L110fs	FAM49A_ENST00000406434.1_Frame_Shift_Del_p.L110fs|FAM49A_ENST00000355549.2_Frame_Shift_Del_p.L110fs	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	110						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GTGGACAAGTCAGAGATTCCA	0.443																																					p.L110fs		.											.	FAM49A-226	0			c.330delG						.						88.0	96.0	93.0					2																	16743378		2203	4300	6503	SO:0001589	frameshift_variant	81553	exon6			ACAAGTCAGAGAT	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.330delG	2.37:g.16743378delC	ENSP00000370724:p.Leu110fs	113	0		122	41	NM_030797	0	0	0	0	0	B3KNZ1|Q53QW2	Frame_Shift_Del	DEL	ENST00000381323.3	37	CCDS1688.1																																																																																			.		0.443	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797	
RDH14	57665	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	18736655	18736655	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:18736655C>T	ENST00000381249.3	-	2	920	c.813G>A	c.(811-813)gtG>gtA	p.V271V	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	271					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	AAGCCCATGACACCAAATTGA	0.458																																					p.V585V		.											.	.	0			c.G1755A						.						168.0	162.0	164.0					2																	18736655		2203	4300	6503	SO:0001819	synonymous_variant	100526794	exon9			CCATGACACCAAA	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19979	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 4"""		"""retinol dehydrogenase 14 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.813G>A	2.37:g.18736655C>T		184	1		143	28	NM_001199103	0	0	0	0	0		Silent	SNP	ENST00000381249.3	37	CCDS1693.1																																																																																			.		0.458	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1		
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	21228418	21228418	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:21228418C>A	ENST00000233242.1	-	26	11449	c.11322G>T	c.(11320-11322)ctG>ctT	p.L3774L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3774					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAAGTTCTCAGCTTCTTAT	0.403																																					p.L3774L		.											.	APOB-175	0			c.G11322T						.						108.0	113.0	111.0					2																	21228418		2203	4300	6503	SO:0001819	synonymous_variant	338	exon26			AGTTCTCAGCTTC	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11322G>T	2.37:g.21228418C>A		81	0		80	19	NM_000384	0	0	0	0	0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																			.		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
ATAD2B	54454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	24110821	24110821	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:24110821C>G	ENST00000238789.5	-	4	796	c.453G>C	c.(451-453)aaG>aaC	p.K151N		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	151						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCATCTCCCTTCTTTTCCC	0.378																																					p.K151N		.											.	ATAD2B-68	0			c.G453C						.						71.0	67.0	68.0					2																	24110821		1822	4081	5903	SO:0001583	missense	54454	exon4			ATCTCCCTTCTTT	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.453G>C	2.37:g.24110821C>G	ENSP00000238789:p.Lys151Asn	152	0		130	24	NM_001242338	0	0	0	0	0	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661097	0.47572	.	.	ENSG00000119778	ENST00000238789;ENST00000439915	D;T	0.92299	-3.01;0.77	4.05	1.18	0.20946	.	.	.	.	.	T	0.80984	0.4729	N	0.08118	0	0.26157	N	0.980063	P;B	0.51933	0.949;0.421	B;B	0.40066	0.318;0.05	T	0.72554	-0.4258	9	0.39692	T	0.17	.	9.2708	0.37670	0.0:0.7354:0.0:0.2646	.	151;151	C9JG15;Q9ULI0	.;ATD2B_HUMAN	N	151	ENSP00000238789:K151N;ENSP00000403177:K151N	ENSP00000238789:K151N	K	-	3	2	ATAD2B	23964325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.817000	0.27281	0.466000	0.27193	0.563000	0.77884	AAG	.		0.378	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	
EFR3B	22979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	25326646	25326646	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:25326646G>C	ENST00000403714.3	+	4	536	c.353G>C	c.(352-354)gGc>gCc	p.G118A	EFR3B_ENST00000402191.1_Missense_Mutation_p.G83A|EFR3B_ENST00000401432.3_Missense_Mutation_p.G118A	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	118										endometrium(1)	1						CAGATCCTCGGCACCAACTCG	0.637																																					p.G118A		.											.	.	0			c.G353C						.						53.0	52.0	53.0					2																	25326646		692	1591	2283	SO:0001583	missense	22979	exon4			TCCTCGGCACCAA	AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.353G>C	2.37:g.25326646G>C	ENSP00000384081:p.Gly118Ala	124	0		136	31	NM_014971	0	0	0	0	0	B7WPL8|Q86XU6	Missense_Mutation	SNP	ENST00000403714.3	37	CCDS46231.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974127	0.34848	.	.	ENSG00000084710	ENST00000401432;ENST00000403714;ENST00000402191;ENST00000545169	T;T;T	0.58210	0.35;0.35;0.45	5.25	5.25	0.73442	Armadillo-like helical (1);Armadillo-type fold (1);	0.111964	0.64402	D	0.000011	T	0.61788	0.2375	L	0.44542	1.39	0.80722	D	1	D;P	0.76494	0.999;0.675	D;B	0.87578	0.998;0.318	T	0.52786	-0.8529	10	0.05833	T	0.94	-32.2189	17.5705	0.87933	0.0:0.0:1.0:0.0	.	118;118	Q9Y2G0;Q9Y2G0-3	EFR3B_HUMAN;.	A	118;118;83;83	ENSP00000386082:G118A;ENSP00000384081:G118A;ENSP00000385832:G83A	ENSP00000386082:G118A	G	+	2	0	EFR3B	25180150	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.596000	0.98267	2.729000	0.93468	0.557000	0.71058	GGC	.		0.637	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324808.1	NM_014971	
OTOF	9381	bcgsc.ca	37	2	26696889	26696889	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:26696889G>T	ENST00000272371.2	-	27	3504	c.3378C>A	c.(3376-3378)atC>atA	p.I1126I	OTOF_ENST00000338581.6_Silent_p.I379I|OTOF_ENST00000403946.3_Silent_p.I1126I|OTOF_ENST00000339598.3_Silent_p.I379I|OTOF_ENST00000402415.3_Silent_p.I436I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1126					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACGGGCCGGATGCCCATGG	0.642																																					p.I1126I	GBM(102;732 1451 20652 24062 31372)	.											.	OTOF-135	0			c.C3378A						.						61.0	62.0	62.0					2																	26696889		2203	4298	6501	SO:0001819	synonymous_variant	9381	exon27			GGGCCGGATGCCC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3378C>A	2.37:g.26696889G>T		329	4		366	162	NM_194248	0	0	0	0	0	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																			.		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
SLC30A3	7781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	27479291	27479291	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:27479291C>T	ENST00000233535.4	-	7	1333	c.981G>A	c.(979-981)acG>acA	p.T327T	SLC30A3_ENST00000447008.2_Silent_p.T322T	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	327					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAAGTGAGCGTAAGGGCCC	0.602																																					p.T327T		.											.	SLC30A3-90	0			c.G981A						.						74.0	66.0	69.0					2																	27479291		2203	4300	6503	SO:0001819	synonymous_variant	7781	exon7			AGTGAGCGTAAGG	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.981G>A	2.37:g.27479291C>T		308	0		358	68	NM_003459	0	0	0	0	0	Q8TC03	Silent	SNP	ENST00000233535.4	37	CCDS1743.1																																																																																			.		0.602	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2		
ALK	238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	29497978	29497978	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:29497978G>T	ENST00000389048.3	-	11	2934	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	676					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TAGGGTCAAAGATGGGGGTCT	0.468			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.I676I		.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	ALK-3833	0			c.C2028A						.						98.0	98.0	98.0					2																	29497978		2203	4300	6503	SO:0001819	synonymous_variant	238	exon11	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	GTCAAAGATGGGG	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2028C>A	2.37:g.29497978G>T		155	0		113	39	NM_004304	0	0	0	0	0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																			.		0.468	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
ALK	238	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	29754793	29754793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:29754793delG	ENST00000389048.3	-	4	2048	c.1142delC	c.(1141-1143)ccafs	p.P381fs	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	381	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ATGCTTCCCTGGAGTGGGCAT	0.512			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.P381fs		.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	ALK-3833	0			c.1142delC						.						80.0	80.0	80.0					2																	29754793		2203	4300	6503	SO:0001589	frameshift_variant	238	exon4	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	TTCCCTGGAGTGG	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1142delC	2.37:g.29754793delG	ENSP00000373700:p.Pro381fs	83	0		88	37	NM_004304	0	0	0	0	0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Frame_Shift_Del	DEL	ENST00000389048.3	37	CCDS33172.1																																																																																			.		0.512	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
ALK	238	hgsc.bcm.edu	37	2	30143451	30143451	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:30143451G>T	ENST00000389048.3	-	1	981	c.75C>A	c.(73-75)acC>acA	p.T25T	ALK_ENST00000431873.1_Silent_p.T25T	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	25					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CGCGCTGGCCGGTCCCCATCC	0.711			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.T25T		.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	ALK-3833	0			c.C75A						.						6.0	8.0	8.0					2																	30143451		2102	4052	6154	SO:0001819	synonymous_variant	238	exon1	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	CTGGCCGGTCCCC	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.75C>A	2.37:g.30143451G>T		2	0		14	9	NM_004304	0	0	0	0	0	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																			.		0.711	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
XDH	7498	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	31610680	31610680	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:31610680C>A	ENST00000379416.3	-	8	696	c.648G>T	c.(646-648)ttG>ttT	p.L216F	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	216					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CACCTACCAGCAACTCTGGGG	0.522																																					p.L216F	Colon(66;682 1445 30109 40147)	.											.	XDH-158	0			c.G648T						.						28.0	27.0	27.0					2																	31610680		2202	4297	6499	SO:0001583	missense	7498	exon8			TACCAGCAACTCT	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.648G>T	2.37:g.31610680C>A	ENSP00000368727:p.Leu216Phe	63	0		58	13	NM_000379	0	0	0	0	0	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629391	0.67015	.	.	ENSG00000158125	ENST00000379416	T	0.27557	1.66	5.8	1.35	0.21983	FAD-binding, type 2 (1);Xanthine dehydrogenase, small subunit (1);	0.066558	0.64402	D	0.000011	T	0.60919	0.2306	H	0.95780	3.72	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.62506	-0.6840	10	0.87932	D	0	.	6.9635	0.24610	0.0:0.5398:0.2495:0.2107	.	216	P47989	XDH_HUMAN	F	216	ENSP00000368727:L216F	ENSP00000368727:L216F	L	-	3	2	XDH	31464184	1.000000	0.71417	0.981000	0.43875	0.878000	0.50629	0.940000	0.28992	0.349000	0.23975	0.563000	0.77884	TTG	.		0.522	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
NLRC4	58484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	32477523	32477523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:32477523C>T	ENST00000404025.2	-	4	715	c.227G>A	c.(226-228)tGg>tAg	p.W76*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.W76*|NLRC4_ENST00000342905.6_Nonsense_Mutation_p.W76*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.W76*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	76	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGGATAGTTCCACTCCTTAAG	0.403																																					p.W76X		.											.	NLRC4-276	0			c.G227A						.						92.0	91.0	91.0					2																	32477523		2203	4300	6503	SO:0001587	stop_gained	58484	exon3			TAGTTCCACTCCT	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.227G>A	2.37:g.32477523C>T	ENSP00000385090:p.Trp76*	88	0		89	40	NM_001199138	0	0	0	0	0	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985597	0.74589	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	.	.	.	4.1	4.1	0.47936	.	0.304955	0.23222	N	0.050557	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-2.4636	7.9191	0.29835	0.0:0.8859:0.0:0.114	.	.	.	.	X	76	.	ENSP00000339666:W76X	W	-	2	0	NLRC4	32331027	0.131000	0.22433	0.824000	0.32777	0.366000	0.29705	1.703000	0.37846	2.291000	0.77112	0.411000	0.27672	TGG	.		0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
BIRC6	57448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	32673862	32673862	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:32673862G>T	ENST00000421745.2	+	22	4618		c.e22-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTATTTTTCAGATATGGATTA	0.348																																					.	Pancreas(94;175 1509 16028 18060 45422)	.											.	BIRC6-233	0			c.4485-1G>T						.						96.0	101.0	100.0					2																	32673862		2203	4300	6503	SO:0001630	splice_region_variant	57448	exon22			TTTTCAGATATGG	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4485-1G>T	2.37:g.32673862G>T		51	0		34	13	NM_016252	0	0	0	0	0	Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476991	0.84640	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8175	0.88639	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32527366	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.809000	0.99208	2.633000	0.89246	0.585000	0.79938	.	.		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron
TTC27	55622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	32865410	32865410	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:32865410A>C	ENST00000317907.4	+	4	701	c.470A>C	c.(469-471)aAg>aCg	p.K157T		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	157										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CTGACCTCGAAGCCTATACTA	0.403																																					p.K157T		.											.	TTC27-90	0			c.A470C						.						131.0	118.0	123.0					2																	32865410		2203	4300	6503	SO:0001583	missense	55622	exon4			CCTCGAAGCCTAT	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.470A>C	2.37:g.32865410A>C	ENSP00000313953:p.Lys157Thr	76	0		71	20	NM_017735	0	0	0	0	0	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	A	6.935	0.542219	0.13250	.	.	ENSG00000018699	ENST00000448773;ENST00000317907	T	0.60424	0.19	5.46	4.32	0.51571	.	0.248848	0.44285	D	0.000472	T	0.48943	0.1528	M	0.62723	1.935	0.25024	N	0.991312	B	0.27823	0.19	B	0.24701	0.055	T	0.32955	-0.9887	10	0.19590	T	0.45	-14.0807	8.5144	0.33237	0.912:0.0:0.088:0.0	.	157	Q6P3X3	TTC27_HUMAN	T	107;157	ENSP00000313953:K157T	ENSP00000313953:K157T	K	+	2	0	TTC27	32718914	0.999000	0.42202	0.947000	0.38551	0.011000	0.07611	2.667000	0.46808	2.077000	0.62373	0.533000	0.62120	AAG	.		0.403	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	
RASGRP3	25780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	33752422	33752422	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:33752422C>T	ENST00000403687.3	+	10	1766	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	RASGRP3_ENST00000407811.1_Silent_p.S342S|RASGRP3_ENST00000402538.3_Silent_p.S342S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	342	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AACTAGTCTCCCTGCAGAATG	0.473																																					p.S342S		.											.	RASGRP3-661	0			c.C1026T						.						95.0	94.0	94.0					2																	33752422		1983	4168	6151	SO:0001819	synonymous_variant	25780	exon11			AGTCTCCCTGCAG	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1026C>T	2.37:g.33752422C>T		136	0		137	62	NM_170672	0	0	0	0	0	D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	CCDS46256.1																																																																																			.		0.473	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	
FAM98A	25940	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	33810384	33810384	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:33810384C>A	ENST00000238823.8	-	8	1156	c.1016G>T	c.(1015-1017)gGg>gTg	p.G339V	FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Missense_Mutation_p.G144V|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	340	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					GCCACCTCTCCCTCCTCCTCG	0.602																																					p.G339V		.											.	FAM98A-91	0			c.G1016T						.						94.0	82.0	86.0					2																	33810384		2203	4300	6503	SO:0001583	missense	25940	exon8			CCTCTCCCTCCTC		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1016G>T	2.37:g.33810384C>A	ENSP00000238823:p.Gly339Val	145	1		124	47	NM_015475	0	0	0	0	0	B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332050	0.41297	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;D	0.86097	0.55;-2.07	5.4	5.4	0.78164	.	0.058529	0.64402	D	0.000003	D	0.82917	0.5141	N	0.08118	0	0.80722	D	1	D;D;D;D	0.60575	0.988;0.988;0.986;0.976	P;P;P;P	0.56278	0.736;0.736;0.795;0.629	D	0.87047	0.2144	10	0.72032	D	0.01	-4.6408	19.1748	0.93600	0.0:1.0:0.0:0.0	.	340;170;339;177	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	V	339;340;144	ENSP00000238823:G339V;ENSP00000408716:G144V	ENSP00000238823:G339V	G	-	2	0	FAM98A	33663888	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.313000	0.59160	2.532000	0.85374	0.313000	0.20887	GGG	.		0.602	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	
QPCT	25797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	37599541	37599541	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:37599541T>C	ENST00000338415.3	+	6	1024	c.866T>C	c.(865-867)tTg>tCg	p.L289S	QPCT_ENST00000537448.1_Missense_Mutation_p.L240S	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	289					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				GATCACTCTTTGGAGGGGCGG	0.363																																					p.L289S		.											.	QPCT-90	0			c.T866C						.						188.0	185.0	186.0					2																	37599541		2203	4300	6503	SO:0001583	missense	25797	exon6			ACTCTTTGGAGGG	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.866T>C	2.37:g.37599541T>C	ENSP00000344829:p.Leu289Ser	198	0		189	76	NM_012413	0	0	0	0	0	Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	T	5.130	0.209564	0.09757	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448;ENST00000444022	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.42	-10.8	0.00216	Peptidase M28 (1);	1.215930	0.05425	N	0.544921	T	0.17619	0.0423	N	0.10782	0.045	0.19300	N	0.999977	B;B	0.15473	0.004;0.013	B;B	0.06405	0.001;0.002	T	0.11012	-1.0605	10	0.06099	T	0.92	-15.7398	6.3241	0.21234	0.0687:0.2038:0.0993:0.6283	.	240;289	Q16769-2;Q16769	.;QPCT_HUMAN	S	289;240;240;54	ENSP00000344829:L289S;ENSP00000385391:L240S;ENSP00000441606:L240S;ENSP00000389227:L54S	ENSP00000344829:L289S	L	+	2	0	QPCT	37453045	0.000000	0.05858	0.430000	0.26722	0.536000	0.34869	-2.232000	0.01205	-1.946000	0.01035	-1.074000	0.02243	TTG	.		0.363	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2		
SLC8A1	6546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	40656207	40656207	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:40656207G>C	ENST00000403092.1	-	2	1247	c.1214C>G	c.(1213-1215)cCt>cGt	p.P405R	SLC8A1_ENST00000406785.2_Missense_Mutation_p.P405R|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P405R|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P405R|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P405R|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P405R|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P405R|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P405R|SLC8A1_ENST00000406391.2_Missense_Mutation_p.P405R|SLC8A1_ENST00000542756.1_Missense_Mutation_p.P405R			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	405	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTTACTAACAGGGTCATTTTC	0.468																																					p.P405R		.											.	SLC8A1-93	0			c.C1214G						.						118.0	95.0	103.0					2																	40656207		2203	4300	6503	SO:0001583	missense	6546	exon1			CTAACAGGGTCAT		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1214C>G	2.37:g.40656207G>C	ENSP00000384763:p.Pro405Arg	189	0		175	41	NM_001252624	0	0	0	0	0	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951099	0.34471	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.73319	2.225	0.80722	D	1	D;D;D;P;D	0.76494	0.996;0.999;0.996;0.956;0.982	D;D;D;P;D	0.91635	0.979;0.999;0.979;0.777;0.941	T	0.36939	-0.9727	10	0.14252	T	0.57	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	405;405;405;405;405	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	R	405	ENSP00000383886:P405R;ENSP00000440727:P405R;ENSP00000384763:P405R;ENSP00000385678:P405R;ENSP00000385188:P405R;ENSP00000385535:P405R;ENSP00000332931:P405R;ENSP00000384908:P405R;ENSP00000385811:P405R;ENSP00000443515:P405R	ENSP00000332931:P405R	P	-	2	0	SLC8A1	40509711	1.000000	0.71417	0.968000	0.41197	0.912000	0.54170	6.536000	0.73842	2.941000	0.99782	0.655000	0.94253	CCT	.		0.468	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
COX7A2L	9167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	42578413	42578413	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:42578413C>A	ENST00000378669.1	-	4	1120	c.291G>T	c.(289-291)ggG>ggT	p.G97G	COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_Silent_p.G97G			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	97					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						AGTAGATGGTCCCTCCCACAG	0.512																																					p.G97G		.											.	COX7A2L-226	0			c.G291T						.						90.0	74.0	80.0					2																	42578413		2203	4300	6503	SO:0001819	synonymous_variant	9167	exon3			GATGGTCCCTCCC	AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.291G>T	2.37:g.42578413C>A		299	0		309	62	NM_004718	0	0	0	0	0	Q9P118	Silent	SNP	ENST00000378669.1	37	CCDS1808.1																																																																																			.		0.512	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250466.3	NM_004718	
GTF2A1L	11036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	48872174	48872174	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:48872174C>A	ENST00000403751.3	+	5	343	c.306C>A	c.(304-306)ggC>ggA	p.G102G	STON1-GTF2A1L_ENST00000309827.2_Silent_p.G806G|GTF2A1L_ENST00000430487.2_Silent_p.G68G|STON1-GTF2A1L_ENST00000394754.1_Silent_p.G806G|STON1-GTF2A1L_ENST00000405008.1_Silent_p.G806G|STON1-GTF2A1L_ENST00000394751.3_Intron|LHCGR_ENST00000420913.3_Intron|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Silent_p.G806G	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	102					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATATCTAGGGCACTTCAAACT	0.368																																					p.G806G		.											.	STON1-GTF2A1L-27	0			c.C2418A						.						79.0	80.0	79.0					2																	48872174		2203	4300	6503	SO:0001819	synonymous_variant	286749	exon7			CTAGGGCACTTCA	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.306C>A	2.37:g.48872174C>A		53	0		33	8	NM_001198593	0	0	0	0	0	B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	CCDS46281.1																																																																																			.		0.368	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
NRXN1	9378	broad.mit.edu;mdanderson.org	37	2	50574004	50574004	+	Intron	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:50574004C>T	ENST00000406316.2	-	18	4841				NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000342183.5_Silent_p.G28G|NRXN1_ENST00000401710.1_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGGCGCCCCCCTGcgccgc	0.756																																					p.G28G		.											.	NRXN1-92	0			c.G84A						.						8.0	8.0	8.0					2																	50574004		2171	4258	6429	SO:0001627	intron_variant	9378	exon1			GCGCCCCCCTGCG	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3365-109896G>A	2.37:g.50574004C>T		31	0		34	10	NM_138735	0	0	0	0	0	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																			.		0.756	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
CHAC2	494143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	53992682	53992682	+	5'Flank	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:53992682T>A	ENST00000295304.4	+	0	0				ASB3_ENST00000406625.2_Missense_Mutation_p.T45S|GPR75-ASB3_ENST00000263634.3_Missense_Mutation_p.T10S|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.T48S|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)											endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTAGAGCACGTGTCCGCGTAA	0.433																																					p.T48S		.											.	.	0			c.A142T						.						141.0	125.0	130.0					2																	53992682		2203	4300	6503	SO:0001631	upstream_gene_variant	100302652	exon2			AGCACGTGTCCGC	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824		2.37:g.53992682T>A	Exception_encountered	120	0		100	41	NM_001164165	0	0	0	0	0	Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	CCDS33196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.60|10.60	1.395430|1.395430	0.25205|0.25205	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000406053|ENST00000263634;ENST00000406625;ENST00000352846;ENST00000446049	.|T;T;T	.|0.68025	.|-0.29;-0.28;-0.3	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Ankyrin repeat-containing domain (2);	.|0.231100	.|0.36066	.|N	.|0.002804	T|T	0.43010|0.43010	0.1228|0.1228	N|N	0.01874|0.01874	-0.695|-0.695	.|0.24909	.|N	.|0.992055	.|P;P;P	.|0.48911	.|0.727;0.86;0.917	.|B;B;P	.|0.47941	.|0.314;0.314;0.562	T|T	0.53244|0.53244	-0.8466|-0.8466	4|9	.|0.09338	.|T	.|0.73	-8.5775|-8.5775	12.0093|12.0093	0.53278|0.53278	0.0:0.0:0.144:0.856|0.0:0.0:0.144:0.856	.|.	.|10;45;10	.|B4DZX6;Q2TAI4;Q9Y575	.|.;.;ASB3_HUMAN	L|S	2|10;45;48;10	.|ENSP00000263634:T10S;ENSP00000385085:T45S;ENSP00000313756:T48S	.|ENSP00000263634:T10S	H|T	-|-	2|1	0|0	ASB3|ASB3	53846186|53846186	0.919000|0.919000	0.31177|0.31177	0.379000|0.379000	0.26080|0.26080	0.134000|0.134000	0.20937|0.20937	2.289000|2.289000	0.43523|0.43523	2.239000|2.239000	0.73571|0.73571	0.533000|0.533000	0.62120|0.62120	CAC|ACG	.		0.433	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708	
GPR75	10936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	54080954	54080954	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:54080954C>A	ENST00000394705.2	-	2	1210	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	314					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAATCCTTGGCAGTGGAGAGG	0.552																																					p.A314S		.											.	GPR75-92	0			c.G940T						.						138.0	123.0	128.0					2																	54080954		2203	4300	6503	SO:0001583	missense	10936	exon2			CCTTGGCAGTGGA	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.940G>T	2.37:g.54080954C>A	ENSP00000378195:p.Ala314Ser	182	0		177	63	NM_006794	0	0	0	0	0	B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153256	0.57259	.	.	ENSG00000119737	ENST00000394705	T	0.34472	1.36	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.056851	0.64402	D	0.000001	T	0.35335	0.0928	.	.	.	0.58432	D	0.999996	P	0.43392	0.805	P	0.45753	0.492	T	0.01889	-1.1253	9	0.20046	T	0.44	-14.0859	14.6124	0.68524	0.0:0.9285:0.0:0.0715	.	314	O95800	GPR75_HUMAN	S	314	ENSP00000378195:A314S	ENSP00000378195:A314S	A	-	1	0	GPR75	53934458	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	4.424000	0.59868	2.811000	0.96726	0.555000	0.69702	GCC	.		0.552	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2		
APLF	200558	broad.mit.edu;bcgsc.ca	37	2	68805010	68805010	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:68805010G>T	ENST00000303795.4	+	10	1563	c.1392G>T	c.(1390-1392)ctG>ctT	p.L464L	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	464					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AGTATGACCTGAACGACAGCT	0.408																																					p.L464L		.											.	APLF-92	0			c.G1392T						.						180.0	176.0	178.0					2																	68805010		2203	4300	6503	SO:0001819	synonymous_variant	200558	exon10			TGACCTGAACGAC	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1392G>T	2.37:g.68805010G>T		114	1		117	48	NM_173545	0	0	0	0	0	A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	CCDS1888.1																																																																																			.		0.408	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545	
BMP10	27302	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	69092925	69092925	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:69092925A>G	ENST00000295379.1	-	2	1271	c.1113T>C	c.(1111-1113)atT>atC	p.I371I		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	371					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AGGCCTGGATAATTGCATGCT	0.512																																					p.I371I		.											.	BMP10-92	0			c.T1113C						.						171.0	162.0	165.0					2																	69092925		2203	4300	6503	SO:0001819	synonymous_variant	27302	exon2			CTGGATAATTGCA	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1113T>C	2.37:g.69092925A>G		206	2		172	84	NM_014482	0	0	0	0	0	Q53R17|Q6NTE0	Silent	SNP	ENST00000295379.1	37	CCDS1890.1																																																																																			.		0.512	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482	
ASPRV1	151516	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	70188807	70188807	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:70188807C>A	ENST00000320256.4	-	1	590	c.14G>T	c.(13-15)gGg>gTg	p.G5V	PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000415222.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TAGGCTGGCCCCTGGGCTCCC	0.667																																					p.G5V		.											.	ASPRV1-69	0			c.G14T						.						90.0	101.0	98.0					2																	70188807		2203	4299	6502	SO:0001583	missense	151516	exon1			CTGGCCCCTGGGC	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.14G>T	2.37:g.70188807C>A	ENSP00000315383:p.Gly5Val	59	0		66	13	NM_152792	0	0	0	0	0		Missense_Mutation	SNP	ENST00000320256.4	37	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269741	0.40095	.	.	ENSG00000244617	ENST00000320256	T	0.62639	0.01	5.58	4.71	0.59529	.	.	.	.	.	T	0.49677	0.1571	N	0.08118	0	0.51767	D	0.999937	D	0.54601	0.967	P	0.50490	0.642	T	0.57883	-0.7734	9	0.87932	D	0	.	10.5319	0.44981	0.0:0.9107:0.0:0.0893	.	5	Q53RT3	APRV1_HUMAN	V	5	ENSP00000315383:G5V	ENSP00000315383:G5V	G	-	2	0	ASPRV1	70042311	0.935000	0.31712	0.998000	0.56505	0.027000	0.11550	1.386000	0.34419	1.348000	0.45733	0.655000	0.94253	GGG	.		0.667	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792	
ZNF638	27332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	71629179	71629179	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:71629179G>T	ENST00000409544.1	+	16	3421	c.2791G>T	c.(2791-2793)Ggt>Tgt	p.G931C	ZNF638_ENST00000264447.4_Missense_Mutation_p.G931C|ZNF638_ENST00000355812.3_Missense_Mutation_p.G931C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	931	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACCATTTGGTGGTTTAAAGGA	0.318																																					p.G931C		.											.	ZNF638-94	0			c.G2791T						.						79.0	83.0	81.0					2																	71629179		2202	4282	6484	SO:0001583	missense	27332	exon16			TTTGGTGGTTTAA	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2791G>T	2.37:g.71629179G>T	ENSP00000386433:p.Gly931Cys	117	0		112	20	NM_014497	0	0	0	0	0	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636375	0.67130	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.55052	0.54;1.5;1.5	5.59	5.59	0.84812	.	0.369273	0.26307	N	0.025121	T	0.59197	0.2176	L	0.50333	1.59	0.37274	D	0.907542	P;D;D;D	0.55172	0.938;0.963;0.963;0.97	P;P;P;P	0.55999	0.62;0.789;0.789;0.671	T	0.65344	-0.6191	10	0.56958	D	0.05	-2.2434	10.5176	0.44898	0.0878:0.0:0.9122:0.0	.	931;931;931;931	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	C	510;931;931;931	ENSP00000348066:G931C;ENSP00000264447:G931C;ENSP00000386433:G931C	ENSP00000264447:G931C	G	+	1	0	ZNF638	71482687	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	1.699000	0.37804	2.635000	0.89317	0.585000	0.79938	GGT	.		0.318	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
DYSF	8291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	71709010	71709010	+	Splice_Site	SNP	G	G	C	rs369527668		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:71709010G>C	ENST00000258104.3	+	3	423	c.146G>C	c.(145-147)gGa>gCa	p.G49A	DYSF_ENST00000410020.3_Splice_Site_p.G50A|DYSF_ENST00000409744.1_Splice_Site_p.G50A|DYSF_ENST00000429174.2_Splice_Site_p.G49A|DYSF_ENST00000409582.3_Splice_Site_p.G49A|DYSF_ENST00000409762.1_Splice_Site_p.G49A|DYSF_ENST00000409366.1_Splice_Site_p.G50A|DYSF_ENST00000410041.1_Splice_Site_p.G50A|DYSF_ENST00000409651.1_Splice_Site_p.G50A|DYSF_ENST00000394120.2_Splice_Site_p.G50A|DYSF_ENST00000413539.2_Splice_Site_p.G49A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	49	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCTTCCAGGGATTTGAATGG	0.532																																					p.G50A		.											.	DYSF-158	0			c.G149C						.						65.0	64.0	64.0					2																	71709010		2203	4300	6503	SO:0001630	splice_region_variant	8291	exon3			TCCAGGGATTTGA	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.145-1G>C	2.37:g.71709010G>C		38	0		46	13	NM_001130984	0	0	0	0	0	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271664	0.80469	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	4.91	4.91	0.64330	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.133206	0.49916	D	0.000125	T	0.64405	0.2595	N	0.12637	0.245	0.52501	D	0.999953	D;D;D;D;P;P;P;P;D;P;D;D;D;D	0.76494	0.999;0.999;0.998;0.998;0.859;0.859;0.859;0.744;0.999;0.859;0.994;0.998;0.998;0.998	D;D;D;D;B;B;B;B;D;P;D;D;D;D	0.69479	0.94;0.94;0.94;0.94;0.406;0.406;0.406;0.406;0.94;0.511;0.961;0.94;0.94;0.964	T	0.59611	-0.7422	10	0.11794	T	0.64	-21.5299	15.9192	0.79547	0.0:0.0:1.0:0.0	.	50;50;50;50;50;50;49;49;49;49;49;49;50;49	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	A	49;49;49;49;49;50;50;50;50;50;50	ENSP00000407046:G49A;ENSP00000387137:G49A;ENSP00000386547:G49A;ENSP00000398305:G49A;ENSP00000258104:G49A;ENSP00000386683:G50A;ENSP00000377678:G50A;ENSP00000386285:G50A;ENSP00000386512:G50A;ENSP00000386881:G50A;ENSP00000386617:G50A	ENSP00000258104:G49A	G	+	2	0	DYSF	71562518	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.169000	0.89672	2.440000	0.82611	0.563000	0.77884	GGA	.		0.532	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Missense_Mutation
SPR	6697	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	73115545	73115545	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:73115545C>T	ENST00000234454.5	+	2	480	c.407C>T	c.(406-408)tCc>tTc	p.S136F	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	136					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						TGCCTGACTTCCAGCGTCCTG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S136F		.											.	SPR-92	0			c.C407T						.						174.0	151.0	159.0					2																	73115545		2203	4300	6503	SO:0001583	missense	6697	exon2			TGACTTCCAGCGT		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	11257	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 38C, member 1"""	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.407C>T	2.37:g.73115545C>T	ENSP00000234454:p.Ser136Phe	244	1	1142	230	54	NM_003124	0	0	0	0	0	A8K741|D6W5H2|Q53GI9|Q9UBB1	Missense_Mutation	SNP	ENST00000234454.5	37	CCDS1920.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539755	0.45176	.	.	ENSG00000116096	ENST00000234454	D	0.87809	-2.3	5.62	5.62	0.85841	NAD(P)-binding domain (1);	0.486257	0.22684	N	0.056917	D	0.93184	0.7829	M	0.84156	2.68	0.26296	N	0.978059	D	0.69078	0.997	D	0.66602	0.945	D	0.88074	0.2802	10	0.72032	D	0.01	-10.9946	14.7207	0.69302	0.0:0.8545:0.1455:0.0	.	136	P35270	SPRE_HUMAN	F	136	ENSP00000234454:S136F	ENSP00000234454:S136F	S	+	2	0	SPR	72969053	0.582000	0.26749	0.025000	0.17156	0.068000	0.16541	4.642000	0.61383	2.648000	0.89879	0.561000	0.74099	TCC	.		0.562	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2		
EMX1	2016	broad.mit.edu	37	2	73151565	73151565	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:73151565C>T	ENST00000258106.6	+	2	1026	c.648C>T	c.(646-648)taC>taT	p.Y216Y	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	183					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						AGAACCACTACGTGGTGGGCG	0.711																																					p.Y216Y		.											.	EMX1-90	0			c.C648T						.						6.0	10.0	9.0					2																	73151565		2033	4162	6195	SO:0001819	synonymous_variant	2016	exon2			CCACTACGTGGTG	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.648C>T	2.37:g.73151565C>T		23	0		105	4	NM_004097	0	0	0	0	0	Q0D2P0|Q53T30|Q86XB0	Silent	SNP	ENST00000258106.6	37	CCDS1921.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.50|12.50	1.957798|1.957798	0.34565|0.34565	.|.	.|.	ENSG00000135638|ENSG00000135638	ENST00000394111|ENST00000464675	.|.	.|.	.|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|.	.|.	.|.	.|.	T|T	0.46054|0.46054	0.1373|0.1373	.|.	.|.	.|.	0.24187|0.24187	N|N	0.995569|0.995569	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40572|0.40572	-0.9556|-0.9556	5|5	0.87932|0.87932	D|D	0|0	-5.8145|-5.8145	9.7175|9.7175	0.40283|0.40283	0.0:0.9027:0.0:0.0973|0.0:0.9027:0.0:0.0973	.|.	.|.	.|.	.|.	C|M	169|83	.|.	ENSP00000377670:R169C|ENSP00000449394:T83M	R|T	+|+	1|2	0|0	EMX1|EMX1	73005073|73005073	0.913000|0.913000	0.31002|0.31002	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.070000|0.070000	0.14573|0.14573	2.434000|2.434000	0.82447|0.82447	0.561000|0.561000	0.74099|0.74099	CGT|ACG	.		0.711	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3		
EGR4	1961	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	73519448	73519448	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:73519448C>G	ENST00000545030.1	-	2	981	c.907G>C	c.(907-909)Gcc>Ccc	p.A303P	EGR4_ENST00000436467.2_Missense_Mutation_p.A200P	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	303	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCTTGAAGGCAGAGACAGCG	0.701																																					p.A303P		.											.	EGR4-90	0			c.G907C						.						12.0	16.0	14.0					2																	73519448		2190	4274	6464	SO:0001583	missense	1961	exon2			TGAAGGCAGAGAC		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.907G>C	2.37:g.73519448C>G	ENSP00000445626:p.Ala303Pro	52	0		96	12	NM_001965	0	0	0	0	0	B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	37	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686501	0.29962	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.14022	2.54;2.88	4.58	3.7	0.42460	.	0.270670	0.26432	N	0.024419	T	0.09158	0.0226	L	0.27053	0.805	0.30159	N	0.802366	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.07712	-1.0758	10	0.42905	T	0.14	-4.0209	7.358	0.26729	0.0:0.7376:0.1701:0.0923	.	200;303	Q05215;G3V1T5	EGR4_HUMAN;.	P	303;200	ENSP00000445626:A303P;ENSP00000419687:A200P	ENSP00000419687:A200P	A	-	1	0	EGR4	73372956	0.366000	0.25014	0.992000	0.48379	0.468000	0.32798	0.481000	0.22260	1.144000	0.42321	0.561000	0.74099	GCC	.		0.701	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965	
ALMS1	7840	broad.mit.edu;bcgsc.ca	37	2	73679621	73679621	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:73679621A>T	ENST00000264448.6	+	8	6075	c.5964A>T	c.(5962-5964)tcA>tcT	p.S1988S	ALMS1_ENST00000377715.1_Silent_p.S1988S|ALMS1_ENST00000409009.1_Silent_p.S1946S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1988	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTTCCTACTCACATTCACATA	0.423																																					p.S1988S		.											.	ALMS1-142	0			c.A5964T						.						88.0	83.0	84.0					2																	73679621		1866	4098	5964	SO:0001819	synonymous_variant	7840	exon8			CTACTCACATTCA	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5964A>T	2.37:g.73679621A>T		111	2		103	45	NM_015120	0	0	0	0	0	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																			.		0.423	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	hgsc.bcm.edu;broad.mit.edu	37	2	73717464	73717464	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:73717464delG	ENST00000264448.6	+	10	8486	c.8375delG	c.(8374-8376)aggfs	p.R2792fs	ALMS1_ENST00000409009.1_Frame_Shift_Del_p.R2750fs|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2792					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGGTAGAAGGCAAAGCCAA	0.373																																					p.R2792fs		.											.	ALMS1-142	0			c.8375delG						.						60.0	57.0	58.0					2																	73717464		1811	4077	5888	SO:0001589	frameshift_variant	7840	exon10			GTAGAAGGCAAAG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8375delG	2.37:g.73717464delG	ENSP00000264448:p.Arg2792fs	21	0		29	10	NM_015120	0	0	0	0	0	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Del	DEL	ENST00000264448.6	37	CCDS42697.1																																																																																			.		0.373	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
TLX2	3196	hgsc.bcm.edu;bcgsc.ca	37	2	74742065	74742065	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:74742065delT	ENST00000233638.7	+	1	455	c.132delT	c.(130-132)catfs	p.H44fs	TLX2_ENST00000497238.1_Intron	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	44	Gly-rich.			LGRGGQGHGENG -> WVAGQVIGEWA (in Ref. 2; CAA05636). {ECO:0000305}.	enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						GCCAGGGTCATGGGGAGAATG	0.701																																					p.H44fs	Esophageal Squamous(7;240 533 18610 24312)	.											.	TLX2-90	0			c.132delT						.						14.0	12.0	13.0					2																	74742065		2195	4289	6484	SO:0001589	frameshift_variant	3196	exon1			GGGTCATGGGGAG	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"""Homeoboxes / ANTP class : NKL subclass"""	5057	protein-coding gene	gene with protein product		604240	"""homeo box 11-like 1"", ""T-cell leukemia, homeobox 2"""	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.132delT	2.37:g.74742065delT	ENSP00000233638:p.His44fs	125	1		169	44	NM_016170	0	0	0	0	0	Q9UD56|Q9UQ48	Frame_Shift_Del	DEL	ENST00000233638.7	37	CCDS1947.1																																																																																			.		0.701	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3		
DQX1	165545	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	74746335	74746335	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:74746335G>A	ENST00000404568.3	-	11	2048	c.1829C>T	c.(1828-1830)aCt>aTt	p.T610I	DQX1_ENST00000393951.2_Missense_Mutation_p.T610I	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	610						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GTAATTTCCAGTCCCGTCTGT	0.493																																					p.T610I		.											.	DQX1-92	0			c.C1829T						.						80.0	85.0	83.0					2																	74746335		2203	4300	6503	SO:0001583	missense	165545	exon11			TTTCCAGTCCCGT	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1829C>T	2.37:g.74746335G>A	ENSP00000384621:p.Thr610Ile	145	1		148	73	NM_133637	0	0	0	0	0	Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119533	0.56505	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.03004	4.08;4.08	5.44	5.44	0.79542	Domain of unknown function DUF1605 (1);	0.196781	0.34314	N	0.004080	T	0.04497	0.0123	L	0.43923	1.385	0.29911	N	0.823564	P	0.39352	0.669	B	0.38106	0.265	T	0.17018	-1.0383	10	0.37606	T	0.19	-25.5593	10.2436	0.43328	0.0901:0.0:0.9099:0.0	.	610	Q8TE96	DQX1_HUMAN	I	610	ENSP00000377523:T610I;ENSP00000384621:T610I	ENSP00000377523:T610I	T	-	2	0	DQX1	74599843	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	5.356000	0.66052	2.558000	0.86282	0.655000	0.94253	ACT	.		0.493	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637	
HTRA2	27429	bcgsc.ca	37	2	74756548	74756548	+	5'UTR	SNP	G	G	C	rs1183739	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:74756548G>C	ENST00000258080.3	+	0	45				HTRA2_ENST00000352222.3_5'Flank|AUP1_ENST00000377526.3_Silent_p.L43L	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2						adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCCCGAGAAAGAGGCGCAGGA	0.662													G|||	234	0.0467252	0.0068	0.0432	5008	,	,		18412	0.0		0.169	False		,,,				2504	0.0256				p.L43L		.											.	AUP1-90	0			c.C129G						.	G	,,	117,4199		4,109,2045	23.0	34.0	30.0		,,129	1.9	1.0	2	dbSNP_87	30	1206,7292		88,1030,3131	no	utr-5,utr-5,coding-synonymous	AUP1,HTRA2	NM_013247.4,NM_145074.2,NM_181575.3	,,	92,1139,5176	CC,CG,GG		14.1916,2.7108,10.3246	,,	,,43/411	74756548	1323,11491	2158	4249	6407	SO:0001623	5_prime_UTR_variant	550	exon2			GAGAAAGAGGCGC		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.-586G>C	2.37:g.74756548G>C		316	2		370	9	NM_181575	0	0	0	0	0	Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	CCDS1951.1																																																																																			G|0.284;C|0.716		0.662	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247	
TACR1	6869	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	75425974	75425974	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:75425974G>C	ENST00000305249.5	-	1	852	c.87C>G	c.(85-87)gcC>gcG	p.A29A	TACR1_ENST00000409848.3_Silent_p.A29A	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	29					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CAATTTGCCAGGCTGGTTGCA	0.532																																					p.A29A	Pancreas(64;62 1268 3653 14826 43765)	.											.	TACR1-523	0			c.C87G						.						149.0	135.0	140.0					2																	75425974		2203	4300	6503	SO:0001819	synonymous_variant	6869	exon1			TTGCCAGGCTGGT	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.87C>G	2.37:g.75425974G>C		322	0		302	89	NM_001058	0	0	0	0	0	A8K150	Silent	SNP	ENST00000305249.5	37	CCDS1958.1																																																																																			.		0.532	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058	
LRRTM4	80059	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	77745615	77745615	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:77745615G>T	ENST00000409093.1	-	3	1716	c.1380C>A	c.(1378-1380)caC>caA	p.H460Q	LRRTM4_ENST00000409884.1_Missense_Mutation_p.H460Q|LRRTM4_ENST00000409088.3_Missense_Mutation_p.H460Q|LRRTM4_ENST00000409911.1_Missense_Mutation_p.H461Q|LRRTM4_ENST00000409282.1_Missense_Mutation_p.H461Q			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	460					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCATAAGAGAGTGTTGCTGGA	0.483																																					p.H460Q		.											.	LRRTM4-94	0			c.C1380A						.						63.0	64.0	64.0					2																	77745615		1945	4157	6102	SO:0001583	missense	80059	exon3			AAGAGAGTGTTGC	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1380C>A	2.37:g.77745615G>T	ENSP00000386357:p.His460Gln	111	2		111	29	NM_024993	0	0	0	0	0	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	3.180	-0.168198	0.06461	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	5.68	-2.38	0.06622	.	0.099067	0.64402	D	0.000002	T	0.60508	0.2274	L	0.47716	1.5	0.30711	N	0.749251	B;B;B	0.20887	0.029;0.049;0.029	B;B;B	0.25291	0.027;0.059;0.027	T	0.51348	-0.8717	10	0.22109	T	0.4	.	8.6195	0.33853	0.4852:0.1015:0.4133:0.0	.	461;460;460	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	Q	461;460;460;460;461	ENSP00000387228:H461Q;ENSP00000387297:H460Q;ENSP00000386357:H460Q;ENSP00000386236:H460Q;ENSP00000386286:H461Q	ENSP00000386236:H460Q	H	-	3	2	LRRTM4	77599123	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	0.865000	0.27940	-0.380000	0.07894	-0.126000	0.14955	CAC	.		0.483	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993	
LRRTM4	80059	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	77746839	77746839	+	Missense_Mutation	SNP	G	G	C	rs76327576	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:77746839G>C	ENST00000409093.1	-	3	492	c.156C>G	c.(154-156)ttC>ttG	p.F52L	LRRTM4_ENST00000409884.1_Missense_Mutation_p.F52L|LRRTM4_ENST00000409088.3_Missense_Mutation_p.F52L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.F53L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.F53L			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	52	LRRNT.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGATATCTGCGAAAGCATGAG	0.463													G|||	17	0.00339457	0.0121	0.0014	5008	,	,		18305	0.0		0.0	False		,,,				2504	0.0				p.F52L		.											.	LRRTM4-94	0			c.C156G						.	G	LEU/PHE,LEU/PHE	45,3905		0,45,1930	115.0	110.0	112.0		156,156	-0.2	0.9	2	dbSNP_132	112	1,8309		0,1,4154	yes	missense,missense	LRRTM4	NM_001134745.1,NM_024993.4	22,22	0,46,6084	CC,CG,GG		0.012,1.1392,0.3752	benign,benign	52/591,52/519	77746839	46,12214	1975	4155	6130	SO:0001583	missense	80059	exon3			ATCTGCGAAAGCA	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.156C>G	2.37:g.77746839G>C	ENSP00000386357:p.Phe52Leu	191	0		137	24	NM_024993	0	0	0	0	0	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	G	0.213	-1.035080	0.02029	0.011392	1.2E-4	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06	5.72	-0.181	0.13291	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.01320	0.0043	N	0.10837	0.055	0.51012	D	0.999907	B;B;B	0.27882	0.121;0.192;0.121	B;B;B	0.32465	0.07;0.146;0.07	T	0.49360	-0.8948	10	0.02654	T	1	.	9.9543	0.41657	0.4829:0.0:0.5171:0.0	.	53;52;52	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	L	53;52;52;52;53	ENSP00000387228:F53L;ENSP00000387297:F52L;ENSP00000386357:F52L;ENSP00000386236:F52L;ENSP00000386286:F53L	ENSP00000386236:F52L	F	-	3	2	LRRTM4	77600347	0.994000	0.37717	0.916000	0.36221	0.995000	0.86356	0.367000	0.20382	-0.333000	0.08476	0.655000	0.94253	TTC	G|0.996;C|0.004		0.463	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993	
REG3A	5068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	79385466	79385466	+	Missense_Mutation	SNP	G	G	C	rs11554092		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:79385466G>C	ENST00000409839.3	-	4	355	c.319C>G	c.(319-321)Cat>Gat	p.H107D	REG3A_ENST00000393878.1_Missense_Mutation_p.H107D|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.H107D	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	107	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GTGGGGTCATGGAGCCCAATC	0.572																																					p.H107D		.											.	REG3A-91	0			c.C319G						.						131.0	105.0	114.0					2																	79385466		2203	4300	6503	SO:0001583	missense	5068	exon3			GGTCATGGAGCCC	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.319C>G	2.37:g.79385466G>C	ENSP00000386630:p.His107Asp	163	0		131	28	NM_138938	0	0	0	0	0		Missense_Mutation	SNP	ENST00000409839.3	37	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438725	0.25900	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.15256	2.44;2.44;2.44	4.02	3.14	0.36123	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.224065	0.32041	N	0.006673	T	0.46795	0.1411	M	0.93241	3.395	0.35701	D	0.815627	D	0.76494	0.999	D	0.79108	0.992	T	0.62210	-0.6902	10	0.72032	D	0.01	.	7.7498	0.28890	0.1137:0.0:0.8863:0.0	.	107	Q06141	REG3A_HUMAN	D	107	ENSP00000386630:H107D;ENSP00000377456:H107D;ENSP00000304311:H107D	ENSP00000304311:H107D	H	-	1	0	REG3A	79238974	0.995000	0.38212	0.999000	0.59377	0.013000	0.08279	0.307000	0.19296	1.282000	0.44496	-0.199000	0.12753	CAT	.		0.572	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580	
CTNNA2	1496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	79878752	79878752	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:79878752G>T	ENST00000402739.4	+	1	75	c.70G>T	c.(70-72)Gtg>Ttg	p.V24L	CTNNA2_ENST00000540488.1_Missense_Mutation_p.V24L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V24L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V58L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V24L|MIR4264_ENST00000583520.1_RNA|CTNNA2_ENST00000409266.1_Missense_Mutation_p.V24L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V24L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	24					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GACGCTAACAGTGGAAAGGCT	0.423																																					p.V24L		.											.	CTNNA2-368	0			c.G70T						.						82.0	81.0	81.0					2																	79878752		1867	4095	5962	SO:0001583	missense	1496	exon2			CTAACAGTGGAAA		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.70G>T	2.37:g.79878752G>T	ENSP00000384638:p.Val24Leu	111	0		91	34	NM_001164883	0	0	0	0	0	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	G	27.8	4.864951	0.91511	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000451966;ENST00000409971;ENST00000361291;ENST00000409266;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000002	T	0.75752	0.3892	M	0.90977	3.165	0.80722	D	1	D;P;P	0.62365	0.991;0.471;0.471	D;P;P	0.70935	0.971;0.686;0.456	T	0.80341	-0.1423	10	0.72032	D	0.01	.	17.8263	0.88666	0.0:0.0:1.0:0.0	.	24;24;24	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	L	24;24;24;24;58;24;24;24;24	ENSP00000418191:V24L;ENSP00000419295:V24L;ENSP00000400105:V24L;ENSP00000387073:V24L;ENSP00000355398:V58L;ENSP00000384638:V24L;ENSP00000444675:V24L;ENSP00000441705:V24L	ENSP00000355398:V58L	V	+	1	0	CTNNA2	79732260	1.000000	0.71417	0.993000	0.49108	0.689000	0.40095	9.003000	0.93577	2.805000	0.96524	0.655000	0.94253	GTG	.		0.423	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
LRRTM1	347730	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	80530470	80530470	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:80530470C>A	ENST00000295057.3	-	2	1131	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G159W|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	159					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.G159W(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TTCCGCAGCCCGTGGAAGAGG	0.637										HNSCC(69;0.2)																											p.G159W		.											.	LRRTM1-73	2	Substitution - Missense(2)	lung(2)	c.G475T						.						73.0	80.0	78.0					2																	80530470		2203	4300	6503	SO:0001583	missense	347730	exon2			GCAGCCCGTGGAA	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.475G>T	2.37:g.80530470C>A	ENSP00000295057:p.Gly159Trp	99	1		110	51	NM_178839	0	0	0	0	0	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615870	0.66672	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.6	4.6	0.57074	.	0.000000	0.85682	U	0.000000	D	0.82907	0.5139	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86899	0.2053	9	.	.	.	.	17.4068	0.87475	0.0:1.0:0.0:0.0	.	159	Q86UE6	LRRT1_HUMAN	W	159	ENSP00000295057:G159W;ENSP00000386646:G159W;ENSP00000415368:G159W;ENSP00000389473:G159W	.	G	-	1	0	LRRTM1	80383981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.805000	0.86005	2.078000	0.62432	0.543000	0.68304	GGG	.		0.637	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839	
RETSAT	54884	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	85577993	85577993	+	Missense_Mutation	SNP	C	C	T	rs201722519	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:85577993C>T	ENST00000295802.4	-	3	619	c.507G>A	c.(505-507)atG>atA	p.M169I	RETSAT_ENST00000263854.6_Missense_Mutation_p.M169I|RETSAT_ENST00000457495.2_Missense_Mutation_p.M108I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	169					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCCACTGTACATGGGGTACT	0.502													C|||	2	0.000399361	0.0	0.0	5008	,	,		20936	0.002		0.0	False		,,,				2504	0.0				p.M169I		.											.	RETSAT-70	0			c.G507A						.						116.0	106.0	109.0					2																	85577993		2203	4300	6503	SO:0001583	missense	54884	exon3			ACTGTACATGGGG	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.507G>A	2.37:g.85577993C>T	ENSP00000295802:p.Met169Ile	222	1		167	69	NM_017750	0	0	0	0	0	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	CCDS1972.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	C|C	8.274|8.274	0.813968|0.813968	0.16537|0.16537	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000409984|ENST00000295802;ENST00000263854;ENST00000457495	.|T;T;T	.|0.58060	.|0.36;0.36;0.36	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.044191	.|0.85682	.|D	.|0.000000	T|T	0.33059|0.33059	0.0850|0.0850	N|N	0.11756|0.11756	0.17|0.17	0.47374|0.47374	D|D	0.999402|0.999402	.|B;B	.|0.20052	.|0.041;0.024	.|B;B	.|0.15484	.|0.013;0.006	T|T	0.24048|0.24048	-1.0171|-1.0171	5|10	.|0.02654	.|T	.|1	-36.574|-36.574	17.8186|17.8186	0.88643|0.88643	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|108;169	.|G5E9N3;Q6NUM9	.|.;RETST_HUMAN	Y|I	108|169;169;108	.|ENSP00000295802:M169I;ENSP00000263854:M169I;ENSP00000405040:M108I	.|ENSP00000263854:M169I	C|M	-|-	2|3	0|0	RETSAT|RETSAT	85431504|85431504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	1.723000|1.723000	0.38053|0.38053	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	TGT|ATG	C|0.999;T|0.001		0.502	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750	
CAPG	822	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	85625897	85625897	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:85625897G>T	ENST00000409921.1	-	7	696	c.630C>A	c.(628-630)ggC>ggA	p.G210G	CAPG_ENST00000409670.1_Silent_p.G225G|CAPG_ENST00000409724.1_Silent_p.G225G|CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000263867.4_Silent_p.G225G			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CAGGCTTGGGGCCCAGGACCT	0.647																																					p.G225G		.											.	CAPG-204	0			c.C675A						.						41.0	35.0	37.0					2																	85625897		2203	4300	6503	SO:0001819	synonymous_variant	822	exon7			CTTGGGGCCCAGG	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.630C>A	2.37:g.85625897G>T		125	2		162	30	NM_001256139	0	0	0	0	0	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000409921.1	37	CCDS58715.1																																																																																			.		0.647	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747	
CHMP3	51652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	86769415	86769415	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:86769415C>A	ENST00000263856.4	-	2	194	c.66G>T	c.(64-66)aaG>aaT	p.K22N	CHMP3_ENST00000409727.1_Missense_Mutation_p.K22N|CHMP3_ENST00000409225.2_Intron|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.K51N|CHMP3_ENST00000439940.2_Missense_Mutation_p.K51N	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	22	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											CCTTTCTTATCTTCAATGACC	0.328																																					p.K51N		.											.	.	0			c.G153T						.						117.0	111.0	113.0					2																	86769415		2203	4298	6501	SO:0001583	missense	100526767	exon4			TCTTATCTTCAAT	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.66G>T	2.37:g.86769415C>A	ENSP00000263856:p.Lys22Asn	108	0		106	31	NM_001198954	0	0	0	0	0	A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	ENST00000263856.4	37	CCDS33236.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253138	0.59212	.	.	ENSG00000115561;ENSG00000115561;ENSG00000115561;ENSG00000249884	ENST00000263856;ENST00000409727;ENST00000439940;ENST00000440757	T;D;T;T	0.89050	-0.7;-2.46;-0.7;-0.7	5.39	5.39	0.77823	.	0.095371	0.64402	D	0.000001	D	0.91818	0.7411	M	0.67569	2.06	0.80722	D	1	B;P;D	0.54601	0.052;0.703;0.967	B;B;P	0.57911	0.092;0.283;0.829	D	0.89754	0.3942	10	0.27785	T	0.31	-28.6112	15.005	0.71504	0.0:1.0:0.0:0.0	.	51;22;22	Q9Y3E7-3;Q9Y3E7-4;Q9Y3E7	.;.;CHMP3_HUMAN	N	22;22;51;129	ENSP00000263856:K22N;ENSP00000387045:K22N;ENSP00000405575:K51N;ENSP00000392995:K129N	ENSP00000392995:K129N	K	-	3	2	VPS24;RNF103-VPS24	86622926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.468000	0.35332	2.690000	0.91761	0.655000	0.94253	AAG	.		0.328	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079	
CD8A	925	hgsc.bcm.edu	37	2	87016799	87016799	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:87016799G>T	ENST00000409511.2	-	6	1508	c.478C>A	c.(478-480)Cgc>Agc	p.R160S	CD8A_ENST00000456996.2_Missense_Mutation_p.R160S|CD8A_ENST00000538832.1_Missense_Mutation_p.R201S|CD8A_ENST00000409781.1_Intron|CD8A_ENST00000352580.3_Missense_Mutation_p.R160S|CD8A_ENST00000283635.3_Missense_Mutation_p.R160S	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	160					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GCCTCTGGGCGCAGGGACAGG	0.771																																					p.R160S		.											.	CD8A-91	0			c.C478A						.						4.0	5.0	5.0					2																	87016799		1890	3849	5739	SO:0001583	missense	925	exon6			CTGGGCGCAGGGA		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.478C>A	2.37:g.87016799G>T	ENSP00000386559:p.Arg160Ser	0	0		7	4	NM_001145873	0	0	0	0	0	B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524634	0.27299	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832	T;T;T;T;T	0.77750	-1.12;-1.12;-1.07;-1.07;-1.12	3.69	-1.91	0.07641	.	0.616511	0.16782	N	0.199743	T	0.61825	0.2378	L	0.43554	1.36	0.09310	N	1	B;B;P	0.37276	0.182;0.05;0.589	B;B;B	0.32583	0.027;0.016;0.148	T	0.52888	-0.8515	10	0.46703	T	0.11	-8.2574	6.2681	0.20939	0.0997:0.0:0.2846:0.6156	.	201;160;160	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	S	160;160;160;160;145;201	ENSP00000398868:R160S;ENSP00000321631:R160S;ENSP00000283635:R160S;ENSP00000386559:R160S;ENSP00000438371:R201S	ENSP00000283635:R160S	R	-	1	0	CD8A	86870310	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.404000	0.07205	-0.417000	0.07461	0.561000	0.74099	CGC	.		0.771	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768	
TEX37	200523	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	88828736	88828736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:88828736delG	ENST00000303254.3	+	4	429	c.287delG	c.(286-288)aggfs	p.R96fs		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	96						nucleus (GO:0005634)											GAGGCCACGAGGGAGGACGAG	0.572																																					p.R96fs		.											.	.	0			c.287delG						.						140.0	128.0	132.0					2																	88828736		2203	4300	6503	SO:0001589	frameshift_variant	200523	exon4			CCACGAGGGAGGA	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.287delG	2.37:g.88828736delG	ENSP00000307142:p.Arg96fs	241	0		293	83	NM_152670	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000303254.3	37	CCDS2003.1																																																																																			.		0.572	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670	
ADRA2B	151	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	96780750	96780750	+	Missense_Mutation	SNP	C	C	A	rs369104505		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:96780750C>A	ENST00000409345.3	-	1	1234	c.1139G>T	c.(1138-1140)tGc>tTc	p.C380F		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	380					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGGGAACCAGCAGAGCACAAA	0.602																																					p.C380F		.											.	ADRA2B-229	0			c.G1139T						.						51.0	58.0	56.0					2																	96780750		2191	4295	6486	SO:0001583	missense	151	exon1			AACCAGCAGAGCA	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1139G>T	2.37:g.96780750C>A	ENSP00000387281:p.Cys380Phe	168	1		180	78	NM_000682	0	0	0	0	0	Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340807	0.81911	.	.	ENSG00000222040	ENST00000409345	T	0.52295	0.67	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.79975	0.4539	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86487	0.1795	9	0.87932	D	0	.	17.2158	0.86943	0.0:1.0:0.0:0.0	.	383	P18089	ADA2B_HUMAN	F	380	ENSP00000387281:C380F	ENSP00000387281:C380F	C	-	2	0	ADRA2B	96144477	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.810000	0.86072	2.662000	0.90505	0.558000	0.71614	TGC	.		0.602	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1		
STARD7	56910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	96858161	96858161	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:96858161C>A	ENST00000337288.5	-	6	1172	c.789G>T	c.(787-789)agG>agT	p.R263S	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	263	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ATGATCTGACCCTGACGAATT	0.433																																					p.R263S		.											.	STARD7-68	0			c.G789T						.						199.0	191.0	193.0					2																	96858161		2203	4300	6503	SO:0001583	missense	56910	exon6			TCTGACCCTGACG	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.789G>T	2.37:g.96858161C>A	ENSP00000338030:p.Arg263Ser	96	0		111	48	NM_020151	0	0	0	0	0	D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	ENST00000337288.5	37	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252236	0.80135	.	.	ENSG00000084090	ENST00000337288	T	0.71341	-0.56	5.91	2.92	0.33932	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	M	0.87328	2.875	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81618	-0.0851	10	0.87932	D	0	-29.4044	4.3556	0.11176	0.192:0.6242:0.0:0.1838	.	263	Q9NQZ5	STAR7_HUMAN	S	263	ENSP00000338030:R263S	ENSP00000338030:R263S	R	-	3	2	STARD7	96221888	0.913000	0.31002	1.000000	0.80357	0.991000	0.79684	-0.030000	0.12308	1.509000	0.48786	-0.136000	0.14681	AGG	.		0.433	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2		
INPP4A	3631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	99181141	99181141	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:99181141G>T	ENST00000523221.1	+	18	2082	c.2082G>T	c.(2080-2082)agG>agT	p.R694S	INPP4A_ENST00000409851.3_Missense_Mutation_p.R689S|INPP4A_ENST00000074304.5_Missense_Mutation_p.R694S|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Missense_Mutation_p.R655S|INPP4A_ENST00000409540.3_Missense_Mutation_p.R655S|INPP4A_ENST00000545415.1_Missense_Mutation_p.R655S			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	694					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TTAAGCTGAGGAACTGCCTGC	0.627																																					p.R694S		.											.	INPP4A-227	0			c.G2082T						.						35.0	39.0	38.0					2																	99181141		2115	4214	6329	SO:0001583	missense	3631	exon20			GCTGAGGAACTGC	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2082G>T	2.37:g.99181141G>T	ENSP00000427722:p.Arg694Ser	158	0		143	30	NM_001134224	0	0	0	0	0	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716172	0.68844	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.15	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	L	0.37630	1.12	0.58432	D	0.999999	D;D;D;D	0.89917	0.996;0.997;0.999;1.0	D;D;D;D	0.87578	0.99;0.983;0.995;0.998	T	0.07424	-1.0773	10	0.21014	T	0.42	-18.6216	6.6287	0.22845	0.1541:0.1556:0.6904:0.0	.	655;655;694;689	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	S	655;689;694;655;655;694	ENSP00000386704:R655S;ENSP00000386777:R689S;ENSP00000074304:R694S;ENSP00000442149:R655S;ENSP00000387294:R655S;ENSP00000427722:R694S	ENSP00000074304:R694S	R	+	3	2	INPP4A	98547573	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.760000	0.47581	1.347000	0.45714	0.563000	0.77884	AGG	.		0.627	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566	
TBC1D8	11138	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	101670676	101670676	+	Silent	SNP	G	G	A	rs78556703	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:101670676G>A	ENST00000376840.4	-	4	479	c.480C>T	c.(478-480)gtC>gtT	p.V160V	TBC1D8_ENST00000409318.1_Silent_p.V175V			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	160	GRAM 1.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AGTAGTAGGTGACCAGCTTCT	0.612													G|||	24	0.00479233	0.0166	0.0029	5008	,	,		18017	0.0		0.0	False		,,,				2504	0.0				p.V160V		.											.	TBC1D8-25	0			c.C480T						.	G		73,4143		0,73,2035	38.0	44.0	42.0		480	3.8	1.0	2	dbSNP_132	42	5,8523		0,5,4259	no	coding-synonymous	TBC1D8	NM_001102426.1		0,78,6294	AA,AG,GG		0.0586,1.7315,0.6121		160/1141	101670676	78,12666	2108	4264	6372	SO:0001819	synonymous_variant	11138	exon4			GTAGGTGACCAGC	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.480C>T	2.37:g.101670676G>A		166	0		123	20	NM_001102426	0	0	0	0	0	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	CCDS46375.1																																																																																			G|0.993;A|0.007		0.612	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063	
RFX8	731220	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	102038877	102038877	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:102038877T>A	ENST00000376826.2	-	6	468	c.469A>T	c.(469-471)Agg>Tgg	p.R157W	RFX8_ENST00000428343.1_Missense_Mutation_p.R44W			Q6ZV50	RFX8_HUMAN	RFX family member 8, lacking RFX DNA binding domain	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|stomach(1)	3						GGACATCTCCTGAATTCAGAC	0.403																																					p.R44W		.											.	.	0			c.A130T						.						162.0	142.0	148.0					2																	102038877		692	1591	2283	SO:0001583	missense	731220	exon3			ATCTCCTGAATTC	AK124976	CCDS46376.1	2q11.2	2012-11-15	2012-11-15		ENSG00000196460	ENSG00000196460			37253	protein-coding gene	gene with protein product			"""regulatory factor X, 8"", ""RFX gene family member 8, lacking RFX DNA binding domain"""				Standard	NM_001145664		Approved	FLJ42986	uc010yvx.1	Q6ZV50	OTTHUMG00000130693	ENST00000376826.2:c.469A>T	2.37:g.102038877T>A	ENSP00000366022:p.Arg157Trp	157	0		133	37	NM_001145664	0	0	0	0	0	B4DQ32	Missense_Mutation	SNP	ENST00000376826.2	37		.	.	.	.	.	.	.	.	.	.	T	19.18	3.778500	0.70107	.	.	ENSG00000196460	ENST00000376826;ENST00000428343	T;T	0.78481	-1.18;0.71	5.88	0.433	0.16534	.	.	.	.	.	T	0.63438	0.2511	L	0.32530	0.975	0.30673	N	0.753196	P	0.47191	0.891	B	0.43225	0.412	T	0.62996	-0.6735	9	0.66056	D	0.02	.	1.3709	0.02210	0.1428:0.1581:0.1486:0.5505	.	44	Q6ZV50-3	.	W	157;44	ENSP00000366022:R157W;ENSP00000401536:R44W	ENSP00000366022:R157W	R	-	1	2	RFX8	101405309	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	0.278000	0.18753	0.119000	0.18210	-1.205000	0.01647	AGG	.		0.403	RFX8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145664	
SLC9A4	389015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	103090435	103090435	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:103090435G>T	ENST00000295269.4	+	1	674	c.217G>T	c.(217-219)Gtc>Ttc	p.V73F		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	73					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCTTATGAGGTCACTCTCTG	0.403																																					p.V73F		.											.	SLC9A4-92	0			c.G217T						.						117.0	113.0	114.0					2																	103090435		2203	4300	6503	SO:0001583	missense	389015	exon1			TATGAGGTCACTC		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.217G>T	2.37:g.103090435G>T	ENSP00000295269:p.Val73Phe	102	0		95	37	NM_001011552	0	0	0	0	0	Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107879	0.77096	.	.	ENSG00000180251	ENST00000295269	T	0.70986	-0.53	6.04	6.04	0.98038	Cation/H+ exchanger (1);	0.173853	0.51477	D	0.000099	T	0.71829	0.3386	L	0.54323	1.7	0.58432	D	0.999994	P	0.35982	0.531	B	0.42798	0.398	T	0.73081	-0.4095	10	0.66056	D	0.02	.	13.7479	0.62887	0.0698:0.0:0.9302:0.0	.	73	Q6AI14	SL9A4_HUMAN	F	73	ENSP00000295269:V73F	ENSP00000295269:V73F	V	+	1	0	SLC9A4	102456867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.052000	0.49893	2.873000	0.98535	0.563000	0.77884	GTC	.		0.403	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
RGPD3	653489	bcgsc.ca	37	2	107029644	107029644	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:107029644A>T	ENST00000409886.3	-	22	5249	c.5162T>A	c.(5161-5163)aTt>aAt	p.I1721N	RGPD3_ENST00000304514.7_Missense_Mutation_p.I1721N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1721	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTTCAAGAAAATGAACTGCAG	0.428																																					p.I1721N		.											.	RGPD3-23	0			c.T5162A						.						56.0	83.0	75.0					2																	107029644		692	1590	2282	SO:0001583	missense	653489	exon22			AAGAAAATGAACT		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.5162T>A	2.37:g.107029644A>T	ENSP00000386588:p.Ile1721Asn	983	7		1002	221	NM_001144013	0	0	0	0	0	B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.428222	0.25726	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.50548	0.75;0.74	1.12	1.12	0.20585	GRIP (3);	.	.	.	.	T	0.60183	0.2249	M	0.69823	2.125	0.29370	N	0.864065	D	0.63880	0.993	D	0.64410	0.925	T	0.54186	-0.8331	9	0.87932	D	0	-13.1199	6.4006	0.21636	1.0:0.0:0.0:0.0	.	1721	A6NKT7	RGPD3_HUMAN	N	95;1721;1088;1721	ENSP00000386588:I1721N;ENSP00000303659:I1721N	ENSP00000303659:I1721N	I	-	2	0	RGPD3	106396076	1.000000	0.71417	0.947000	0.38551	0.019000	0.09904	6.520000	0.73773	0.785000	0.33685	0.138000	0.15974	ATT	.		0.428	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931	
RGPD3	653489	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	107041065	107041065	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:107041065G>A	ENST00000409886.3	-	20	3445	c.3358C>T	c.(3358-3360)Ctg>Ttg	p.L1120L	RGPD3_ENST00000304514.7_Silent_p.L1120L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1120	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGGGGCTTCAGGTTCATTGTA	0.413																																					p.L1120L		.											.	RGPD3-23	0			c.C3358T						.						2.0	2.0	2.0					2																	107041065		571	1313	1884	SO:0001819	synonymous_variant	653489	exon20			GCTTCAGGTTCAT		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3358C>T	2.37:g.107041065G>A		40	0		27	12	NM_001144013	0	0	0	0	0	B8ZZM4	Silent	SNP	ENST00000409886.3	37	CCDS46379.1																																																																																			.		0.413	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931	
ST6GAL2	84620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	107423334	107423334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:107423334C>A	ENST00000409382.3	-	6	2000	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	ST6GAL2_ENST00000361686.4_Nonsense_Mutation_p.E464*	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	464					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGCACAGCTCCGTCTGCCGC	0.522																																					p.E464X		.											.	ST6GAL2-191	0			c.G1390T						.						72.0	65.0	67.0					2																	107423334		2203	4300	6503	SO:0001587	stop_gained	84620	exon6			ACAGCTCCGTCTG	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1390G>T	2.37:g.107423334C>A	ENSP00000386942:p.Glu464*	196	0		157	68	NM_032528	0	0	0	0	0	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Nonsense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.237991|11.237991	0.99535|0.99535	.|.	.|.	ENSG00000144057|ENSG00000144057	ENST00000361686;ENST00000409382|ENST00000361803	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.087826|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75376	.|0.3841	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72757	.|-0.4197	.|4	0.42905|.	T|.	0.14|.	-35.5576|-35.5576	19.0512|19.0512	0.93046|0.93046	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	464|29	.|.	ENSP00000355273:E464X|.	E|G	-|-	1|2	0|0	ST6GAL2|ST6GAL2	106789766|106789766	1.000000|1.000000	0.71417|0.71417	0.758000|0.758000	0.31321|0.31321	0.896000|0.896000	0.52359|0.52359	7.738000|7.738000	0.84966|0.84966	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAG|GGA	.		0.522	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
ST6GAL2	84620	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	107459875	107459875	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:107459875C>A	ENST00000409382.3	-	2	1169	c.559G>T	c.(559-561)Gag>Tag	p.E187*	ST6GAL2_ENST00000361686.4_Nonsense_Mutation_p.E187*|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Nonsense_Mutation_p.E187*	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	187					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCGCCCTCCTCCAACACGTGG	0.652																																					p.E187X		.											.	ST6GAL2-191	0			c.G559T						.						90.0	92.0	91.0					2																	107459875		2203	4300	6503	SO:0001587	stop_gained	84620	exon2			CCTCCTCCAACAC	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.559G>T	2.37:g.107459875C>A	ENSP00000386942:p.Glu187*	124	2		119	31	NM_032528	0	0	0	0	0	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Nonsense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	37	6.209080	0.97376	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	.	.	.	4.58	3.68	0.42216	.	0.626855	0.16993	N	0.191237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-7.8376	14.2271	0.65868	0.0:0.849:0.151:0.0	.	.	.	.	X	187	.	ENSP00000355273:E187X	E	-	1	0	ST6GAL2	106826307	0.004000	0.15560	0.006000	0.13384	0.929000	0.56500	1.223000	0.32527	1.201000	0.43203	0.561000	0.74099	GAG	.		0.652	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528	
RANBP2	5903	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	109384075	109384075	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:109384075A>C	ENST00000283195.6	+	20	7206	c.7080A>C	c.(7078-7080)ttA>ttC	p.L2360F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2360	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAAAGATTTTACAGAATTATG	0.338																																					p.L2360F		.											.	RANBP2-675	0			c.A7080C						.						45.0	51.0	49.0					2																	109384075		1954	3979	5933	SO:0001583	missense	5903	exon20			GATTTTACAGAAT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7080A>C	2.37:g.109384075A>C	ENSP00000283195:p.Leu2360Phe	213	0		217	72	NM_006267	0	0	0	0	0	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.412236	0.42817	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.55760	0.5	5.6	3.21	0.36854	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.77644	0.4161	H	0.94503	3.545	0.31028	N	0.717795	D	0.89917	1.0	D	0.97110	1.0	T	0.78221	-0.2288	9	0.87932	D	0	-19.8195	9.7534	0.40490	0.7956:0.0:0.2044:0.0	.	2360	P49792	RBP2_HUMAN	F	1384;2360	ENSP00000283195:L2360F	ENSP00000283195:L2360F	L	+	3	2	RANBP2	108750507	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.701000	0.25616	1.066000	0.40716	0.374000	0.22700	TTA	.		0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
IL36G	56300	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	113736244	113736244	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:113736244G>T	ENST00000259205.4	+	2	98	c.29G>T	c.(28-30)gGt>gTt	p.G10V	IL36G_ENST00000376489.2_Missense_Mutation_p.G10V	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	10					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GACGCTGATGGTGGAGGAAGG	0.517																																					p.G10V		.											.	IL36G-91	0			c.G29T						.						150.0	136.0	141.0					2																	113736244		2203	4300	6503	SO:0001583	missense	56300	exon2			CTGATGGTGGAGG	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.29G>T	2.37:g.113736244G>T	ENSP00000259205:p.Gly10Val	191	0		163	75	NM_019618	0	0	0	0	0	Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	ENST00000259205.4	37	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.555155	0.13436	.	.	ENSG00000136688	ENST00000447128;ENST00000376489;ENST00000259205	T;T;T	0.57436	0.4;1.03;0.4	3.5	-7.01	0.01594	.	7.588360	0.00616	N	0.000422	T	0.26412	0.0645	N	0.08118	0	0.09310	N	0.999998	B;B	0.25169	0.119;0.072	B;B	0.19391	0.025;0.015	T	0.19778	-1.0295	10	0.29301	T	0.29	.	2.9746	0.05933	0.1399:0.2542:0.4045:0.2014	.	10;10	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	V	10	ENSP00000411639:G10V;ENSP00000365672:G10V;ENSP00000259205:G10V	ENSP00000259205:G10V	G	+	2	0	IL36G	113452715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.744000	0.01832	-3.814000	0.00103	-1.008000	0.02478	GGT	.		0.517	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618	
DPP10	57628	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	116535388	116535388	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:116535388delC	ENST00000410059.1	+	15	1819	c.1339delC	c.(1339-1341)cccfs	p.P447fs	DPP10_ENST00000310323.8_Frame_Shift_Del_p.P440fs|DPP10_ENST00000409163.1_Frame_Shift_Del_p.P397fs|DPP10_ENST00000393147.2_Frame_Shift_Del_p.P451fs	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	447						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGAATCTTCTCCCAGAGGAAG	0.408																																					p.P451fs		.											.	DPP10-142	0			c.1351delC						.						153.0	136.0	142.0					2																	116535388		2203	4299	6502	SO:0001589	frameshift_variant	57628	exon15			TCTTCTCCCAGAG	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1339delC	2.37:g.116535388delC	ENSP00000386565:p.Pro447fs	116	0		106	44	NM_001178034	0	0	0	0	0	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Frame_Shift_Del	DEL	ENST00000410059.1	37	CCDS46400.1																																																																																			.		0.408	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	125192069	125192069	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:125192069G>A	ENST00000431078.1	+	5	902	c.538G>A	c.(538-540)Gtt>Att	p.V180I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	180	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGAATCAGATGTTGCTGACTT	0.418																																					p.V180I		.											.	CNTNAP5-524	0			c.G538A						.						120.0	108.0	112.0					2																	125192069		1909	4121	6030	SO:0001583	missense	129684	exon5			TCAGATGTTGCTG	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.538G>A	2.37:g.125192069G>A	ENSP00000399013:p.Val180Ile	93	0		71	28	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679299	0.47886	.	.	ENSG00000155052	ENST00000431078	T	0.79554	-1.28	5.48	-0.836	0.10770	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.489617	0.16878	N	0.195816	T	0.80336	0.4604	M	0.89904	3.07	0.37798	D	0.92761	B	0.10296	0.003	B	0.09377	0.004	T	0.71286	-0.4638	10	0.26408	T	0.33	.	10.49	0.44746	0.5544:0.0:0.4456:0.0	.	180	Q8WYK1	CNTP5_HUMAN	I	180	ENSP00000399013:V180I	ENSP00000399013:V180I	V	+	1	0	CNTNAP5	124908539	0.973000	0.33851	0.001000	0.08648	0.357000	0.29423	1.722000	0.38042	-0.234000	0.09782	0.655000	0.94253	GTT	.		0.418	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	125284869	125284869	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:125284869C>A	ENST00000431078.1	+	10	1846	c.1482C>A	c.(1480-1482)ccC>ccA	p.P494P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	494	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGGGTGCCCCGACAATCTCA	0.448																																					p.P494P		.											.	CNTNAP5-524	0			c.C1482A						.						92.0	88.0	89.0					2																	125284869		1926	4134	6060	SO:0001819	synonymous_variant	129684	exon10			GTGCCCCGACAAT	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1482C>A	2.37:g.125284869C>A		160	0		151	68	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																			.		0.448	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	125405388	125405388	+	Silent	SNP	C	C	A	rs200795882		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:125405388C>A	ENST00000431078.1	+	13	2291	c.1927C>A	c.(1927-1929)Cgg>Agg	p.R643R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	643	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACCCGAGTGCGGGGCGCTAA	0.562																																					p.R643R		.											.	CNTNAP5-524	0			c.C1927A						.						39.0	41.0	41.0					2																	125405388		2085	4208	6293	SO:0001819	synonymous_variant	129684	exon13			CGAGTGCGGGGCG	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1927C>A	2.37:g.125405388C>A		422	1		370	161	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																			.		0.562	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
MYO7B	4648	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	128367426	128367426	+	Silent	SNP	C	C	A	rs202235279		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:128367426C>A	ENST00000409816.2	+	23	3059	c.3027C>A	c.(3025-3027)gcC>gcA	p.A1009A	MYO7B_ENST00000389524.4_Silent_p.A1009A|MYO7B_ENST00000428314.1_Silent_p.A1009A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1009	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTCCCCAGGCCGCCCTGGTCA	0.607																																					p.A1009A		.											.	MYO7B-47	0			c.C3027A						.						50.0	53.0	52.0					2																	128367426		2024	4192	6216	SO:0001819	synonymous_variant	4648	exon24			CCAGGCCGCCCTG		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3027C>A	2.37:g.128367426C>A		173	0		163	36	NM_001080527	0	0	0	0	0	Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	CCDS46405.1																																																																																			C|0.999;T|0.000		0.607	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
UGGT1	56886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	128890799	128890799	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:128890799G>C	ENST00000259253.6	+	14	1509	c.1462G>C	c.(1462-1464)Gtt>Ctt	p.V488L	UGGT1_ENST00000375990.3_Missense_Mutation_p.V464L	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	488					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTTTCCTGGTGTTATTCGGCA	0.403																																					p.V488L		.											.	UGGT1-91	0			c.G1462C						.						174.0	169.0	170.0					2																	128890799		2203	4300	6503	SO:0001583	missense	56886	exon14			CCTGGTGTTATTC	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1462G>C	2.37:g.128890799G>C	ENSP00000259253:p.Val488Leu	120	0		117	34	NM_020120	0	0	0	0	0	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869611	0.72065	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.02974	4.09;4.09	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.06826	0.0174	M	0.73598	2.24	0.80722	D	1	B;B	0.33413	0.411;0.404	B;B	0.33196	0.159;0.096	T	0.35475	-0.9787	10	0.26408	T	0.33	.	19.4558	0.94889	0.0:0.0:1.0:0.0	.	464;488	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	L	464;488	ENSP00000365158:V464L;ENSP00000259253:V488L	ENSP00000259253:V488L	V	+	1	0	UGGT1	128607269	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.333000	0.96459	2.611000	0.88343	0.655000	0.94253	GTT	.		0.403	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
POTEF	728378	bcgsc.ca	37	2	130832803	130832803	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:130832803G>A	ENST00000409914.2	-	17	2641	c.2242C>T	c.(2242-2244)Cat>Tat	p.H748Y	POTEF_ENST00000357462.5_Missense_Mutation_p.H748Y	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	748	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCTTTCTGATGCATGCCCCCC	0.617																																					p.H748Y		.											.	POTEF-27	0			c.C2242T						.						30.0	30.0	30.0					2																	130832803		2201	4285	6486	SO:0001583	missense	728378	exon17			TCTGATGCATGCC	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2242C>T	2.37:g.130832803G>A	ENSP00000386786:p.His748Tyr	443	3		489	68	NM_001099771	0	0	0	0	0	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	12.61	1.990230	0.35131	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.89681	-2.55;-2.55	.	.	.	.	.	.	.	.	T	0.69459	0.3113	N	0.08118	0	0.80722	D	1	P	0.40909	0.732	B	0.30179	0.112	T	0.63633	-0.6593	8	0.72032	D	0.01	.	3.6382	0.08157	2.0E-4:0.4947:0.5049:2.0E-4	.	748	A5A3E0	POTEF_HUMAN	Y	748	ENSP00000350052:H748Y;ENSP00000386786:H748Y	ENSP00000350052:H748Y	H	-	1	0	POTEF	130549273	1.000000	0.71417	0.122000	0.21767	0.123000	0.20343	2.579000	0.46059	0.119000	0.18210	0.121000	0.15741	CAT	.		0.617	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
CCDC74B	91409	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	130898790	130898790	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:130898790C>A	ENST00000310463.6	-	4	761	c.624G>T	c.(622-624)gaG>gaT	p.E208D	CCDC74B_ENST00000392984.3_Missense_Mutation_p.E310D|CCDC74B_ENST00000409943.3_Missense_Mutation_p.E142D|MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000409128.1_Missense_Mutation_p.E184D	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	208										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTAGGGGCTCCTCTTCCAGGT	0.602																																					p.E208D		.											.	CCDC74B-90	0			c.G624T						.						186.0	145.0	159.0					2																	130898790		2203	4300	6503	SO:0001583	missense	91409	exon4			GGGCTCCTCTTCC		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.624G>T	2.37:g.130898790C>A	ENSP00000308873:p.Glu208Asp	349	0		353	111	NM_207310	0	0	0	0	0	Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	0.904	-0.721405	0.03182	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984;ENST00000409488;ENST00000409128	T;T;T;T	0.62788	1.53;1.6;1.55;-0.0	1.77	1.77	0.24775	.	0.544550	0.14521	U	0.314463	T	0.67804	0.2932	M	0.62723	1.935	0.19300	N	0.999979	D;B;B	0.55605	0.972;0.022;0.003	P;B;B	0.59948	0.866;0.02;0.01	T	0.53975	-0.8362	10	0.30854	T	0.27	-25.0399	7.0297	0.24960	0.0:1.0:0.0:0.0	.	310;142;208	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	D	142;208;310;146;184	ENSP00000386294:E142D;ENSP00000308873:E208D;ENSP00000376710:E310D;ENSP00000386644:E184D	ENSP00000308873:E208D	E	-	3	2	CCDC74B	130615260	0.035000	0.19736	0.194000	0.23346	0.021000	0.10359	0.006000	0.13152	1.300000	0.44818	0.187000	0.17357	GAG	.		0.602	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310	
SMPD4	55627	broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	130911967	130911967	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:130911967C>A	ENST00000409031.1	-	16	2807	c.1659G>T	c.(1657-1659)ctG>ctT	p.L553L	SMPD4_ENST00000452225.2_Silent_p.L294L|SMPD4_ENST00000453750.1_Silent_p.L302L|SMPD4_ENST00000351288.6_Silent_p.L524L|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000431183.2_Silent_p.L451L|SMPD4_ENST00000339679.7_Silent_p.L411L|SMPD4_ENST00000426662.2_Silent_p.L189L|SMPD4_ENST00000443958.2_Silent_p.L217L	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	514					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCCAGGGTGACAGGAAGCTCC	0.617																																					p.L553L		.											.	SMPD4-90	0			c.G1659T						.						23.0	24.0	24.0					2																	130911967		2195	4273	6468	SO:0001819	synonymous_variant	55627	exon16			GGGTGACAGGAAG	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1659G>T	2.37:g.130911967C>A		607	1		583	82	NM_017951	0	0	0	0	0	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	4.530|4.530	0.098354|0.098354	0.08681|0.08681	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886|ENST00000430682	.|.	.|.	.|.	3.77|3.77	2.83|2.83	0.33086|0.33086	.|.	.|.	.|.	.|.	.|.	T|T	0.59742|0.59742	0.2216|0.2216	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57849|0.57849	-0.7740|-0.7740	4|4	.|.	.|.	.|.	.|.	10.2577|10.2577	0.43408|0.43408	0.1975:0.8025:0.0:0.0|0.1975:0.8025:0.0:0.0	.|.	.|.	.|.	.|.	F|F	428|235	.|.	.|.	C|V	-|-	2|1	0|0	SMPD4|SMPD4	130628437|130628437	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.438000|0.438000	0.31896|0.31896	0.652000|0.652000	0.24888|0.24888	1.623000|1.623000	0.50342|0.50342	0.305000|0.305000	0.20034|0.20034	TGT|GTC	.		0.617	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751	
AMER3	205147	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	131519737	131519737	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:131519737G>T	ENST00000423981.1	+	2	202	c.92G>T	c.(91-93)aGg>aTg	p.R31M	AMER3_ENST00000321420.4_Missense_Mutation_p.R31M	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	31					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GCTGCAGCCAGGGAGGGGACA	0.622																																					p.R31M		.											.	.	0			c.G92T						.						16.0	22.0	20.0					2																	131519737		2200	4299	6499	SO:0001583	missense	205147	exon2			CAGCCAGGGAGGG	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.92G>T	2.37:g.131519737G>T	ENSP00000392700:p.Arg31Met	150	1		133	65	NM_152698	0	0	0	0	0	B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088977	0.36855	.	.	ENSG00000178171	ENST00000321420;ENST00000431758;ENST00000458606;ENST00000423981	T;T	0.50813	0.73;0.73	5.39	-4.5	0.03493	.	1.132030	0.06562	N	0.746890	T	0.23965	0.0580	N	0.12182	0.205	0.09310	N	1	B	0.22003	0.063	B	0.15870	0.014	T	0.21449	-1.0245	10	0.72032	D	0.01	.	3.1454	0.06469	0.545:0.1344:0.1964:0.1243	.	31	Q8N944	F123C_HUMAN	M	31	ENSP00000314914:R31M;ENSP00000392700:R31M	ENSP00000314914:R31M	R	+	2	0	FAM123C	131236207	0.319000	0.24607	0.002000	0.10522	0.226000	0.24999	0.195000	0.17155	-0.747000	0.04759	0.561000	0.74099	AGG	.		0.622	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
ARHGEF4	50649	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	131803668	131803668	+	Missense_Mutation	SNP	G	G	A	rs138286451	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:131803668G>A	ENST00000326016.5	+	14	2498	c.1979G>A	c.(1978-1980)cGg>cAg	p.R660Q	ARHGEF4_ENST00000355771.3_Missense_Mutation_p.R589Q|ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000392953.3_3'UTR|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.R600Q|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.R162Q	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	660					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCCAGCAACCGGCCCCAGCAG	0.667													G|||	7	0.00139776	0.003	0.0	5008	,	,		17455	0.003		0.0	False		,,,				2504	0.0				p.R660Q		.											.	ARHGEF4-292	0			c.G1979A						.	G	GLN/ARG,	9,4395	16.8+/-37.8	0,9,2193	37.0	45.0	42.0		1979,	0.9	0.9	2	dbSNP_134	42	0,8598		0,0,4299	yes	missense,utr-3	ARHGEF4	NM_015320.2,NM_032995.1	43,	0,9,6492	AA,AG,GG		0.0,0.2044,0.0692	probably-damaging,	660/691,	131803668	9,12993	2202	4299	6501	SO:0001583	missense	50649	exon14			GCAACCGGCCCCA	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1979G>A	2.37:g.131803668G>A	ENSP00000316845:p.Arg660Gln	63	0		188	87	NM_015320	0	0	0	0	0	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	CCDS2165.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	15.72	2.916472	0.52546	0.002044	0.0	ENSG00000136002	ENST00000326016;ENST00000438985;ENST00000428230;ENST00000409303;ENST00000355771	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.47	0.872	0.19113	.	0.155525	0.43919	D	0.000503	T	0.11965	0.0291	N	0.22421	0.69	0.80722	D	1	P;B	0.42871	0.792;0.203	B;B	0.33568	0.166;0.015	T	0.05733	-1.0867	10	0.29301	T	0.29	.	6.6177	0.22786	0.0:0.1877:0.3664:0.4459	.	600;660	E9PEM0;Q9NR80	.;ARHG4_HUMAN	Q	660;342;162;600;589	ENSP00000316845:R660Q;ENSP00000389661:R342Q;ENSP00000398455:R162Q;ENSP00000387285:R600Q;ENSP00000348017:R589Q	ENSP00000316845:R660Q	R	+	2	0	ARHGEF4	131520138	1.000000	0.71417	0.936000	0.37596	0.901000	0.52897	3.972000	0.56838	-0.042000	0.13535	0.462000	0.41574	CGG	G|0.999;A|0.001		0.667	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4		
POTEE	445582	bcgsc.ca	37	2	132021613	132021613	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:132021613C>A	ENST00000356920.5	+	15	2679	c.2585C>A	c.(2584-2586)aCt>aAt	p.T862N	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	862	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GTCACCCACACTGTGCCCATC	0.627																																					p.T862N		.											.	.	0			c.C2585A						.						47.0	47.0	47.0					2																	132021613		2171	4219	6390	SO:0001583	missense	445582	exon15			CCCACACTGTGCC	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2585C>A	2.37:g.132021613C>A	ENSP00000439189:p.Thr862Asn	424	2		425	162	NM_001083538	0	0	0	0	0	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.24	2.775940	0.49786	.	.	ENSG00000188219	ENST00000356920	T	0.08807	3.05	.	.	.	.	.	.	.	.	T	0.15392	0.0371	M	0.92219	3.285	0.80722	D	1	B	0.27166	0.17	B	0.26310	0.068	T	0.01767	-1.1278	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	862	Q6S8J3	POTEE_HUMAN	N	862	ENSP00000439189:T862N	ENSP00000439189:T862N	T	+	2	0	AC131180.1	131738083	1.000000	0.71417	0.128000	0.21923	0.130000	0.20726	3.645000	0.54389	0.119000	0.18210	0.121000	0.15741	ACT	.		0.627	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
ANKRD30BL	554226	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	132912309	132912309	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:132912309delC	ENST00000409867.1	-	4	789	c.540delG	c.(538-540)aggfs	p.R180fs	ANKRD30BL_ENST00000470729.1_5'UTR|RNU6-1132P_ENST00000459214.1_RNA			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	180										endometrium(1)|kidney(3)	4						CACTTCTTTTCCTTATGGCCA	0.294																																					.		.											.	.	0			.						.																																			SO:0001589	frameshift_variant	554226	.			TCTTTTCCTTATG			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.540delG	2.37:g.132912309delC	ENSP00000386398:p.Arg180fs	272	0		229	34	.	0	0	0	0	0	B8ZZL7	RNA	DEL	ENST00000409867.1	37																																																																																				.		0.294	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019	
GPR39	2863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	133174919	133174919	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:133174919T>A	ENST00000329321.3	+	1	773	c.304T>A	c.(304-306)Tcc>Acc	p.S102T		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	102					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGACCACGTCCAGCTACAC	0.557																																					p.S102T		.											.	GPR39-226	0			c.T304A						.						204.0	185.0	191.0					2																	133174919		2203	4300	6503	SO:0001583	missense	2863	exon1			ACCACGTCCAGCT	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.304T>A	2.37:g.133174919T>A	ENSP00000327417:p.Ser102Thr	180	0		161	73	NM_001508	0	0	0	0	0	B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	T	2.344	-0.350425	0.05173	.	.	ENSG00000183840	ENST00000329321	T	0.42131	0.98	5.2	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.425905	0.25366	N	0.031199	T	0.15349	0.0370	N	0.02202	-0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20940	-1.0260	10	0.14252	T	0.57	.	7.6917	0.28571	0.1432:0.7057:0.0:0.1511	.	102	O43194	GPR39_HUMAN	T	102	ENSP00000327417:S102T	ENSP00000327417:S102T	S	+	1	0	GPR39	132891389	0.250000	0.23951	0.958000	0.39756	0.319000	0.28217	1.324000	0.33712	1.442000	0.47568	-0.251000	0.11542	TCC	.		0.557	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1		
NCKAP5	344148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	134275043	134275043	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:134275043C>G	ENST00000409261.1	-	3	428	c.55G>C	c.(55-57)Gac>Cac	p.D19H	NCKAP5_ENST00000405974.3_Missense_Mutation_p.D19H|NCKAP5_ENST00000409213.1_Missense_Mutation_p.D19H|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D19H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	19										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGACTGCTGTCTAGAGACAGC	0.373																																					p.D19H		.											.	.	0			c.G55C						.						79.0	79.0	79.0					2																	134275043		1820	4054	5874	SO:0001583	missense	344148	exon3			TGCTGTCTAGAGA	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.55G>C	2.37:g.134275043C>G	ENSP00000387128:p.Asp19His	75	0		71	13	NM_207481	0	0	0	0	0	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.21|13.21	2.169888|2.169888	0.38315|0.38315	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000358991|ENST00000427594	T;T;T;T|.	0.55760|.	2.53;0.5;2.53;0.5|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|.	.|.	.|.	.|.	T|.	0.50446|.	0.1616|.	N|N	0.14661|0.14661	0.345|0.345	0.38084|0.38084	D|D	0.936778|0.936778	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.997;0.999;1.0|.	T|.	0.49844|.	-0.8896|.	9|.	0.87932|.	D|.	0|.	.|.	17.5151|17.5151	0.87771|0.87771	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	19;19;19|.	F5GYX5;O14513-2;O14513|.	.;.;NCKP5_HUMAN|.	H|Y	19|14	ENSP00000387128:D19H;ENSP00000386952:D19H;ENSP00000380603:D19H;ENSP00000385692:D19H|.	ENSP00000380603:D19H|.	D|X	-|-	1|3	0|2	NCKAP5|NCKAP5	133991513|133991513	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.038000|5.038000	0.64177|0.64177	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	GAC|TAG	.		0.373	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
MAP3K19	80122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	135738654	135738654	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:135738654G>C	ENST00000375845.3	-	9	3687	c.3657C>G	c.(3655-3657)acC>acG	p.T1219T	MAP3K19_ENST00000392918.3_Silent_p.T353T|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_Silent_p.T80T|MAP3K19_ENST00000375844.3_Silent_p.T401T|MAP3K19_ENST00000392917.3_Silent_p.T351T|MAP3K19_ENST00000358371.4_Silent_p.T1106T	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGTCACTGTGGGTGCCATTTA	0.458																																					p.T1219T		.											.	.	0			c.C3657G						.						113.0	109.0	110.0					2																	135738654		2203	4300	6503	SO:0001819	synonymous_variant	80122	exon9			ACTGTGGGTGCCA	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3657C>G	2.37:g.135738654G>C		56	0		83	18	NM_025052	0	0	0	0	0	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	CCDS2176.2																																																																																			.		0.458	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
THSD7B	80731	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	137814534	137814534	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:137814534T>A	ENST00000409968.1	+	3	862	c.684T>A	c.(682-684)gcT>gcA	p.A228A	THSD7B_ENST00000413152.2_Silent_p.A197A|THSD7B_ENST00000543459.1_Silent_p.A87A|THSD7B_ENST00000272643.3_Silent_p.A228A			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	228	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGTGATGCTCCCATTTCCT	0.458																																					.		.											.	THSD7B-75	0			.						.						177.0	172.0	173.0					2																	137814534		1899	4154	6053	SO:0001819	synonymous_variant	80731	.			TGATGCTCCCATT			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.684T>A	2.37:g.137814534T>A		186	0		134	23	.	0	0	0	0	0		Silent	SNP	ENST00000409968.1	37																																																																																				.		0.458	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
THSD7B	80731	broad.mit.edu;bcgsc.ca	37	2	138400132	138400132	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:138400132C>A	ENST00000409968.1	+	21	4052	c.3874C>A	c.(3874-3876)Cag>Aag	p.Q1292K	THSD7B_ENST00000413152.2_Missense_Mutation_p.Q1264K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.Q1295K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1294	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGAGCTTACCCAGGAGAAAAC	0.502																																					.		.											.	THSD7B-75	0			.						.						98.0	101.0	100.0					2																	138400132		1909	4110	6019	SO:0001583	missense	80731	.			CTTACCCAGGAGA			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3874C>A	2.37:g.138400132C>A	ENSP00000387145:p.Gln1292Lys	91	0		77	7	.	0	0	0	0	0		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.197019	0.79015	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.18502	2.21;2.21;2.21	5.33	5.33	0.75918	.	0.134244	0.56097	D	0.000023	T	0.34483	0.0899	M	0.67625	2.065	0.80722	D	1	P	0.49559	0.925	P	0.53722	0.733	T	0.01468	-1.1347	10	0.49607	T	0.09	.	17.9482	0.89045	0.0:1.0:0.0:0.0	.	1264	C9JKN6	.	K	1292;1295;1264	ENSP00000387145:Q1292K;ENSP00000272643:Q1295K;ENSP00000413841:Q1264K	ENSP00000272643:Q1295K	Q	+	1	0	THSD7B	138116602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.721000	0.61951	2.768000	0.95171	0.655000	0.94253	CAG	.		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	141055390	141055390	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:141055390G>T	ENST00000389484.3	-	84	13925	c.12954C>A	c.(12952-12954)gaC>gaA	p.D4318E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4318	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGACATCTGTCTCCGGTGT	0.438										TSP Lung(27;0.18)																											p.D4318E	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.C12954A						.						172.0	178.0	176.0					2																	141055390		2203	4300	6503	SO:0001583	missense	53353	exon84			ACATCTGTCTCCG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12954C>A	2.37:g.141055390G>T	ENSP00000374135:p.Asp4318Glu	204	0		102	55	NM_018557	0	0	0	0	0	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.76|11.76	1.735087|1.735087	0.30774|0.30774	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.89617|.	-2.54|.	6.08|6.08	5.2|5.2	0.72013|0.72013	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);|.	0.125661|.	0.52532|.	D|.	0.000068|.	T|T	0.53045|0.53045	0.1772|0.1772	L|L	0.35341|0.35341	1.055|1.055	0.37262|0.37262	D|D	0.907011|0.907011	B|.	0.21606|.	0.058|.	B|.	0.20184|.	0.028|.	T|T	0.57039|0.57039	-0.7879|-0.7879	10|5	0.11485|.	T|.	0.65|.	.|.	11.3986|11.3986	0.49858|0.49858	0.1372:0.0:0.8628:0.0|0.1372:0.0:0.8628:0.0	.|.	4318|.	Q9NZR2|.	LRP1B_HUMAN|.	E|K	4318;4256|550;50	ENSP00000374135:D4318E|.	ENSP00000374135:D4318E|.	D|T	-|-	3|2	2|0	LRP1B|LRP1B	140771860|140771860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.012000|0.012000	0.07955|0.07955	3.303000|3.303000	0.51858|0.51858	1.595000|1.595000	0.50050|0.50050	-0.136000|-0.136000	0.14681|0.14681	GAC|ACA	.		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	141116494	141116494	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:141116494G>T	ENST00000389484.3	-	73	12124	c.11153C>A	c.(11152-11154)aCg>aAg	p.T3718K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3718	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGAGGTCTCGTGGATGGACA	0.373										TSP Lung(27;0.18)																											p.T3718K	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.C11153A						.						107.0	100.0	102.0					2																	141116494		2203	4299	6502	SO:0001583	missense	53353	exon73			GGTCTCGTGGATG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11153C>A	2.37:g.141116494G>T	ENSP00000374135:p.Thr3718Lys	83	0		45	17	NM_018557	0	0	0	0	0	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184819	0.38609	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87412	-2.25	5.46	5.46	0.80206	.	0.068505	0.64402	U	0.000018	T	0.82010	0.4944	L	0.38649	1.16	0.47183	D	0.999348	P	0.43024	0.798	B	0.42087	0.375	T	0.79502	-0.1777	10	0.05721	T	0.95	.	18.8904	0.92399	0.0:0.0:1.0:0.0	.	3718	Q9NZR2	LRP1B_HUMAN	K	3718;3656	ENSP00000374135:T3718K	ENSP00000374135:T3718K	T	-	2	0	LRP1B	140832964	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.844000	0.75390	2.563000	0.86464	0.591000	0.81541	ACG	.		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	141128388	141128388	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:141128388C>T	ENST00000389484.3	-	71	11870	c.10899G>A	c.(10897-10899)aaG>aaA	p.K3633K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3633	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGATCTTCCTTACATTCAG	0.383										TSP Lung(27;0.18)																											p.K3633K	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.G10899A						.						160.0	145.0	150.0					2																	141128388		2203	4300	6503	SO:0001819	synonymous_variant	53353	exon71			ATCTTCCTTACAT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10899G>A	2.37:g.141128388C>T		83	1		83	33	NM_018557	0	0	0	0	0	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			.		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	141245192	141245192	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:141245192G>A	ENST00000389484.3	-	58	10208	c.9237C>T	c.(9235-9237)gaC>gaT	p.D3079D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3079					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTACCTTAATGTCACTTCCAT	0.308										TSP Lung(27;0.18)																											p.D3079D	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.C9237T						.						94.0	94.0	94.0					2																	141245192		2203	4295	6498	SO:0001819	synonymous_variant	53353	exon58			CTTAATGTCACTT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9237C>T	2.37:g.141245192G>A		50	0		54	15	NM_018557	0	0	0	0	0	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			.		0.308	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
KIF5C	3800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	149837965	149837965	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:149837965G>C	ENST00000435030.1	+	14	1827	c.1459G>C	c.(1459-1461)Gtt>Ctt	p.V487L	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.V392L|KIF5C_ENST00000397413.1_Missense_Mutation_p.V255L			O60282	KIF5C_HUMAN	kinesin family member 5C	487					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGTGAAAGAAGTTCTCCAGGC	0.512																																					p.V487L		.											.	KIF5C-69	0			c.G1459C						.						47.0	50.0	49.0					2																	149837965		2121	4274	6395	SO:0001583	missense	3800	exon14			AAAGAAGTTCTCC	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1459G>C	2.37:g.149837965G>C	ENSP00000393379:p.Val487Leu	117	0		140	51	NM_004522	0	0	0	0	0	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.201225	0.94997	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.83335	-1.71;-1.71;-1.71	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	.	.	.	0.80722	D	1	P;D	0.89917	0.877;1.0	P;D	0.91635	0.728;0.999	D	0.83781	0.0225	9	0.12766	T	0.61	.	19.3716	0.94490	0.0:0.0:1.0:0.0	.	487;53	O60282;Q3LIE3	KIF5C_HUMAN;.	L	487;392;390;255	ENSP00000393379:V487L;ENSP00000410115:V392L;ENSP00000380560:V255L	ENSP00000334176:V390L	V	+	1	0	KIF5C	149546211	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.657000	0.98554	2.805000	0.96524	0.655000	0.94253	GTT	.		0.512	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
RIF1	55183	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	152320981	152320981	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152320981G>T	ENST00000243326.5	+	29	5430	c.4947G>T	c.(4945-4947)gtG>gtT	p.V1649V	RIF1_ENST00000430328.2_Silent_p.V1649V|RIF1_ENST00000428287.2_Silent_p.V1649V|RIF1_ENST00000453091.2_Silent_p.V1649V|RIF1_ENST00000444746.2_Silent_p.V1649V			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TACCAAATGTGTGTGAGGAAA	0.343																																					p.V1649V		.											.	RIF1-300	0			c.G4947T						.						47.0	49.0	49.0					2																	152320981		2202	4299	6501	SO:0001819	synonymous_variant	55183	exon30			AAATGTGTGTGAG	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4947G>T	2.37:g.152320981G>T		107	0		78	21	NM_018151	0	0	0	0	0	A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	CCDS2194.1																																																																																			.		0.343	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
RIF1	55183	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	152321633	152321633	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152321633G>A	ENST00000243326.5	+	29	6082	c.5599G>A	c.(5599-5601)Gga>Aga	p.G1867R	RIF1_ENST00000430328.2_Missense_Mutation_p.G1867R|RIF1_ENST00000428287.2_Missense_Mutation_p.G1867R|RIF1_ENST00000453091.2_Missense_Mutation_p.G1867R|RIF1_ENST00000444746.2_Missense_Mutation_p.G1867R			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCCGTGTTTAGGAGACTCGAA	0.373																																					p.G1867R		.											.	RIF1-300	0			c.G5599A						.						56.0	62.0	60.0					2																	152321633		2203	4300	6503	SO:0001583	missense	55183	exon30			TGTTTAGGAGACT	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5599G>A	2.37:g.152321633G>A	ENSP00000243326:p.Gly1867Arg	48	0		47	15	NM_018151	0	0	0	0	0	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131636	0.56828	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	5.09	-0.35	0.12606	.	2.560490	0.00760	N	0.001125	T	0.08582	0.0213	N	0.14661	0.345	0.09310	N	0.999996	P;P	0.45474	0.779;0.859	B;P	0.45712	0.296;0.491	T	0.09143	-1.0688	10	0.46703	T	0.11	1.176	2.3963	0.04390	0.2391:0.1911:0.4551:0.1147	.	1867;1867	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	R	1867	ENSP00000390181:G1867R;ENSP00000414615:G1867R;ENSP00000415691:G1867R;ENSP00000243326:G1867R;ENSP00000416123:G1867R	ENSP00000243326:G1867R	G	+	1	0	RIF1	152029879	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.336000	0.19823	0.060000	0.16281	0.650000	0.86243	GGA	.		0.373	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	152521284	152521284	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152521284T>C	ENST00000172853.10	-	43	5479	c.5332A>G	c.(5332-5334)Acc>Gcc	p.T1778A	NEB_ENST00000604864.1_Missense_Mutation_p.T1778A|NEB_ENST00000427231.2_Missense_Mutation_p.T1778A|NEB_ENST00000409198.1_Missense_Mutation_p.T1778A|NEB_ENST00000397345.3_Missense_Mutation_p.T1778A|NEB_ENST00000603639.1_Missense_Mutation_p.T1778A			P20929	NEBU_HUMAN	nebulin	1778					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACTCATGGTGATTTGGTTT	0.418																																					p.T1778A		.											.	NEB-145	0			c.A5332G						.						115.0	101.0	105.0					2																	152521284		1892	4121	6013	SO:0001583	missense	4703	exon43			TCATGGTGATTTG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5332A>G	2.37:g.152521284T>C	ENSP00000172853:p.Thr1778Ala	189	0		163	76	NM_004543	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	10.46	1.355896	0.24598	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.78	5.78	0.91487	.	0.048479	0.85682	D	0.000000	T	0.42200	0.1192	L	0.36672	1.1	0.80722	D	1	B	0.25667	0.131	B	0.39339	0.297	T	0.23940	-1.0174	10	0.16420	T	0.52	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	1778	P20929	NEBU_HUMAN	A	1778	ENSP00000386259:T1778A;ENSP00000380505:T1778A;ENSP00000416578:T1778A;ENSP00000172853:T1778A	ENSP00000172853:T1778A	T	-	1	0	NEB	152229530	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	7.978000	0.88095	2.333000	0.79357	0.533000	0.62120	ACC	.		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	152537258	152537258	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152537258C>A	ENST00000172853.10	-	30	3175	c.3028G>T	c.(3028-3030)Gcc>Tcc	p.A1010S	NEB_ENST00000604864.1_Missense_Mutation_p.A1010S|NEB_ENST00000427231.2_Missense_Mutation_p.A1010S|NEB_ENST00000409198.1_Missense_Mutation_p.A1010S|NEB_ENST00000397345.3_Missense_Mutation_p.A1010S|NEB_ENST00000603639.1_Missense_Mutation_p.A1010S			P20929	NEBU_HUMAN	nebulin	1010					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCCTCTGGGCCTGGTTAATT	0.343																																					p.A1010S		.											.	NEB-145	0			c.G3028T						.						210.0	199.0	202.0					2																	152537258		1872	4100	5972	SO:0001583	missense	4703	exon30			TCTGGGCCTGGTT	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3028G>T	2.37:g.152537258C>A	ENSP00000172853:p.Ala1010Ser	121	0		151	54	NM_004543	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	14.05	2.419298	0.42918	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05513	3.43;3.44;3.44;3.43	5.82	5.82	0.92795	.	0.301359	0.34628	N	0.003814	T	0.04497	0.0123	N	0.14661	0.345	0.80722	D	1	P	0.38370	0.628	B	0.39339	0.297	T	0.54050	-0.8351	10	0.10636	T	0.68	.	12.2291	0.54478	0.0:0.9216:0.0:0.0784	.	1010	P20929	NEBU_HUMAN	S	1010	ENSP00000386259:A1010S;ENSP00000380505:A1010S;ENSP00000416578:A1010S;ENSP00000172853:A1010S	ENSP00000172853:A1010S	A	-	1	0	NEB	152245504	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.218000	0.42889	2.764000	0.94973	0.650000	0.86243	GCC	.		0.343	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	152563490	152563490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152563490C>A	ENST00000172853.10	-	13	1204	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	NEB_ENST00000604864.1_Nonsense_Mutation_p.E353*|NEB_ENST00000427231.2_Nonsense_Mutation_p.E353*|NEB_ENST00000409198.1_Nonsense_Mutation_p.E353*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E353*|NEB_ENST00000603639.1_Nonsense_Mutation_p.E353*			P20929	NEBU_HUMAN	nebulin	353					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTATTCTTTTCATAGTCTTCT	0.383																																					p.E353X		.											.	NEB-145	0			c.G1057T						.						84.0	81.0	82.0					2																	152563490		1826	4079	5905	SO:0001587	stop_gained	4703	exon13			TCTTTTCATAGTC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1057G>T	2.37:g.152563490C>A	ENSP00000172853:p.Glu353*	41	0		38	11	NM_004543	0	0	0	0	0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	41	8.716914	0.98927	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.9416	0.97165	0.0:1.0:0.0:0.0	.	.	.	.	X	353;353;353;353;79	.	ENSP00000172853:E353X	E	-	1	0	NEB	152271736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.587000	0.74071	2.798000	0.96311	0.655000	0.94253	GAA	.		0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
CACNB4	785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	152727077	152727077	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:152727077C>A	ENST00000539935.1	-	8	734	c.667G>T	c.(667-669)Gtg>Ttg	p.V223L	CACNB4_ENST00000201943.5_Missense_Mutation_p.V223L|CACNB4_ENST00000360283.6_Missense_Mutation_p.V190L|CACNB4_ENST00000397327.2_Missense_Mutation_p.V176L|CACNB4_ENST00000427385.1_Missense_Mutation_p.V205L|CACNB4_ENST00000534999.1_Missense_Mutation_p.V189L	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	223					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCACTAACACCACCGGACGC	0.498																																					p.V223L		.											.	CACNB4-24	0			c.G667T						.						89.0	89.0	89.0					2																	152727077		2096	4216	6312	SO:0001583	missense	785	exon8			CTAACACCACCGG	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.667G>T	2.37:g.152727077C>A	ENSP00000438949:p.Val223Leu	251	0		333	100	NM_001145798	0	0	0	0	0	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727665	0.96847	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.91	5.91	0.95273	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	M	0.90870	3.155	0.80722	D	1	P;D;P;D;P	0.89917	0.915;1.0;0.932;0.994;0.917	D;D;D;D;P	0.81914	0.92;0.995;0.941;0.984;0.903	D	0.83429	0.0037	10	0.87932	D	0	-15.6787	20.2983	0.98569	0.0:1.0:0.0:0.0	.	223;189;223;205;189	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	L	223;190;180;218;189;176;205;223;224	ENSP00000438949:V223L;ENSP00000353425:V190L;ENSP00000390161:V218L;ENSP00000443893:V189L;ENSP00000380490:V176L;ENSP00000410978:V205L;ENSP00000201943:V223L	ENSP00000201943:V223L	V	-	1	0	CACNB4	152435323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.002000	0.70693	2.802000	0.96397	0.655000	0.94253	GTG	.		0.498	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3	
RPRM	56475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	154334873	154334873	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:154334873C>A	ENST00000325926.3	-	1	449	c.207G>T	c.(205-207)gtG>gtT	p.V69V	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	69					cell cycle arrest (GO:0007050)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)|prostate(1)	4						TGCCGAAGACCACGGTGAGTG	0.607																																					p.V69V		.											.	RPRM-204	0			c.G207T						.						121.0	88.0	99.0					2																	154334873		2203	4300	6503	SO:0001819	synonymous_variant	56475	exon1			GAAGACCACGGTG	AK074808	CCDS2198.1	2q24.1	2011-01-26	2005-12-01		ENSG00000177519	ENSG00000177519			24201	protein-coding gene	gene with protein product	"""candidate mediator of the p53 dependent G2 arrest"", ""REPRIMO"""	612171	"""reprimo, TP53 dependant G2 arrest mediator candidate"""			10930422	Standard	NM_019845		Approved	FLJ90327, REPRIMO	uc002tyq.1	Q9NS64	OTTHUMG00000131905	ENST00000325926.3:c.207G>T	2.37:g.154334873C>A		268	0		447	163	NM_019845	0	0	0	0	0	B2R4V1	Silent	SNP	ENST00000325926.3	37	CCDS2198.1																																																																																			.		0.607	RPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254856.1	NM_019845	
GALNT13	114805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	154996920	154996920	+	Silent	SNP	G	G	A	rs114793552		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:154996920G>A	ENST00000392825.3	+	4	780	c.213G>A	c.(211-213)caG>caA	p.Q71Q	GALNT13_ENST00000409237.1_Silent_p.Q71Q	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	71					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGATGACCAGGAGAAAATGA	0.383																																					p.Q71Q		.											.	GALNT13-95	0			c.G213A						.	G		0,4406		0,0,2203	120.0	121.0	120.0		213	-1.1	1.0	2	dbSNP_132	120	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	GALNT13	NM_052917.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		71/557	154996920	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	114805	exon4			TGACCAGGAGAAA	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.213G>A	2.37:g.154996920G>A		146	0		147	53	NM_052917	0	0	0	0	0	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	CCDS2199.1																																																																																			G|1.000;A|0.000		0.383	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	
BAZ2B	29994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	160205740	160205740	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:160205740C>G	ENST00000392783.2	-	29	5410	c.4915G>C	c.(4915-4917)Ggt>Cgt	p.G1639R	BAZ2B_ENST00000392782.1_Missense_Mutation_p.G1603R|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G1605R|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G1539R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1639					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTAACCACACCAGTGGGCCAT	0.373																																					p.G1639R		.											.	BAZ2B-94	0			c.G4915C						.						83.0	80.0	81.0					2																	160205740		1858	4090	5948	SO:0001583	missense	29994	exon29			CCACACCAGTGGG	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4915G>C	2.37:g.160205740C>G	ENSP00000376534:p.Gly1639Arg	41	0		50	21	NM_013450	0	0	0	0	0	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	8.288	0.817018	0.16607	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.62788	-0.0;0.05;-0.0;0.04	5.47	1.72	0.24424	.	0.000000	0.37053	U	0.002267	T	0.68833	0.3044	M	0.62723	1.935	0.40667	D	0.982185	P;D	0.71674	0.835;0.998	P;D	0.63488	0.531;0.915	T	0.66176	-0.5989	10	0.56958	D	0.05	-3.3686	6.2168	0.20659	0.0:0.6087:0.1216:0.2697	.	1603;1639	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	R	1603;1639;1605;1539	ENSP00000376533:G1603R;ENSP00000376534:G1639R;ENSP00000348087:G1605R;ENSP00000339670:G1539R	ENSP00000339670:G1539R	G	-	1	0	BAZ2B	159913986	1.000000	0.71417	0.860000	0.33809	0.949000	0.60115	1.223000	0.32527	0.107000	0.17824	-0.216000	0.12614	GGT	.		0.373	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
SLC4A10	57282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	162820704	162820704	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:162820704C>A	ENST00000446997.1	+	22	3015	c.2922C>A	c.(2920-2922)taC>taA	p.Y974*	SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.Y944*|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.Y944*|SLC4A10_ENST00000375514.5_Nonsense_Mutation_p.Y955*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.Y974*	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	974					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	ATTTTATATACCTAAGGCACG	0.368																																					p.Y974X		.											.	SLC4A10-229	0			c.C2922A						.						86.0	76.0	79.0					2																	162820704		1840	4092	5932	SO:0001587	stop_gained	57282	exon22			TATATACCTAAGG		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2922C>A	2.37:g.162820704C>A	ENSP00000393066:p.Tyr974*	72	0		76	24	NM_001178015	0	0	0	0	0	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Nonsense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	38	6.973113	0.97975	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	.	.	.	5.13	-0.163	0.13363	.	0.069567	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6774	0.45794	0.0:0.5977:0.0:0.4023	.	.	.	.	X	955;944;944;943;974;974;973	.	ENSP00000272716:Y944X	Y	+	3	2	SLC4A10	162528950	0.930000	0.31532	0.999000	0.59377	0.990000	0.78478	0.049000	0.14099	0.066000	0.16515	-0.302000	0.09304	TAC	.		0.368	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
FAP	2191	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	163059625	163059625	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:163059625C>T	ENST00000188790.4	-	13	1285	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	FAP_ENST00000443424.1_Missense_Mutation_p.D335N	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAAATGGCATCATAGCTGAAA	0.323																																					p.D360N		.											.	FAP-93	0			c.G1078A						.						71.0	68.0	69.0					2																	163059625		2203	4299	6502	SO:0001583	missense	2191	exon13			TGGCATCATAGCT	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1078G>A	2.37:g.163059625C>T	ENSP00000188790:p.Asp360Asn	100	0		95	29	NM_004460	0	0	0	0	0		Missense_Mutation	SNP	ENST00000188790.4	37	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351982	0.82132	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.97850	-4.57;0.87	5.91	5.91	0.95273	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	L	0.38953	1.18	0.80722	D	1	B;B	0.25351	0.124;0.021	B;B	0.36922	0.236;0.033	D	0.93669	0.6988	10	0.34782	T	0.22	-11.7235	20.3011	0.98612	0.0:1.0:0.0:0.0	.	335;360	B4DLR2;Q12884	.;SEPR_HUMAN	N	360;335	ENSP00000188790:D360N;ENSP00000411391:D335N	ENSP00000188790:D360N	D	-	1	0	FAP	162767871	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.557000	0.67313	2.804000	0.96469	0.650000	0.86243	GAT	.		0.323	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		
GRB14	2888	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca|broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	165353720	165353721	+	Splice_Site	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C|	C|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:165353720_165353721CC>AA	ENST00000263915.3	-	11	1832_1833	c.1294_1295GG>TT	c.(1294-1296)GGt>TTt	p.G432F	GRB14_ENST00000497306.1_5'Flank|GRB14_ENST00000543549.1_Splice_Site_p.G345F	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	432					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AACAGACATACCCATGTTTGTG	0.45																																					.|p.A432S		.											.	GRB14-420	0			c.1294+1G>T|c.G1294T						.																																			SO:0001630	splice_region_variant	2888	exon12|exon11			GACATACCCATGT|ACATACCCATGTT		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1294_1295delinsAA	2.37:g.165353720_165353721delinsAA		161|163	0|1		172	56	NM_004490	0	0	0	0	0	B7Z7F9|Q7Z6I1	Splice_Site|Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1																																																																																			.		0.450	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		Missense_Mutation
SCN3A	6328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	165947786	165947786	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:165947786G>T	ENST00000360093.3	-	28	5368	c.4877C>A	c.(4876-4878)gCc>gAc	p.A1626D	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.A1626D|SCN3A_ENST00000540861.1_Missense_Mutation_p.A109D|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.A1577D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1626					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCAATCCTGGCAAGACGGAT	0.468																																					p.A1626D		.											.	SCN3A-141	0			c.C4877A						.						112.0	114.0	113.0					2																	165947786		2203	4300	6503	SO:0001583	missense	6328	exon28			ATCCTGGCAAGAC	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4877C>A	2.37:g.165947786G>T	ENSP00000353206:p.Ala1626Asp	243	0		240	72	NM_006922	0	0	0	0	0	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.215766	0.79352	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000006	D	0.99420	0.9795	H	0.96691	3.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.984	D	0.98492	1.0610	10	0.87932	D	0	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	1577;1577;1626	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	D	1626;1626;1577;109	ENSP00000353206:A1626D;ENSP00000283254:A1626D;ENSP00000386726:A1577D;ENSP00000439920:A109D	ENSP00000283254:A1626D	A	-	2	0	SCN3A	165656032	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.796000	0.99103	2.890000	0.99128	0.585000	0.79938	GCC	.		0.468	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN3A	6328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	166032795	166032795	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166032795G>T	ENST00000360093.3	-	3	601	c.110C>A	c.(109-111)cCc>cAc	p.P37H	SCN3A_ENST00000283254.7_Missense_Mutation_p.P37H|SCN3A_ENST00000409101.3_Missense_Mutation_p.P37H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	37					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCCTTTTTGGGCTTCTTGGC	0.433																																					p.P37H		.											.	SCN3A-141	0			c.C110A						.						225.0	214.0	218.0					2																	166032795		2203	4300	6503	SO:0001583	missense	6328	exon3			TTTTTGGGCTTCT	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.110C>A	2.37:g.166032795G>T	ENSP00000353206:p.Pro37His	92	0		113	44	NM_001081676	0	0	0	0	0	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	17.92	3.505735	0.64410	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;T	0.96041	-3.89;-3.89;-3.85;-3.72;8.11	5.32	5.32	0.75619	.	0.104418	0.42964	D	0.000635	D	0.95692	0.8599	M	0.71296	2.17	0.80722	D	1	P;P;P	0.46457	0.656;0.656;0.878	B;B;P	0.45377	0.388;0.388;0.478	D	0.95964	0.8964	10	0.62326	D	0.03	.	19.3619	0.94442	0.0:0.0:1.0:0.0	.	37;37;37	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	H	37	ENSP00000353206:P37H;ENSP00000283254:P37H;ENSP00000386726:P37H;ENSP00000403348:P37H;ENSP00000391569:P37H	ENSP00000283254:P37H	P	-	2	0	SCN3A	165741041	1.000000	0.71417	0.994000	0.49952	0.330000	0.28571	7.965000	0.87945	2.657000	0.90304	0.467000	0.42956	CCC	.		0.433	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN2A	6326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	166198817	166198817	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166198817G>A	ENST00000375437.2	+	15	2690	c.2400G>A	c.(2398-2400)ggG>ggA	p.G800G	SCN2A_ENST00000357398.3_Silent_p.G800G|SCN2A_ENST00000283256.6_Silent_p.G800G|SCN2A_ENST00000375427.2_Silent_p.G800G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	800					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTCACAGGGATCTTCACAG	0.323																																					p.G800G		.											.	SCN2A-142	0			c.G2400A						.						114.0	115.0	115.0					2																	166198817		2203	4300	6503	SO:0001819	synonymous_variant	6326	exon14			CACAGGGATCTTC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2400G>A	2.37:g.166198817G>A		73	0		82	14	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																			.		0.323	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN2A	6326	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	166198894	166198894	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166198894T>C	ENST00000375437.2	+	15	2767	c.2477T>C	c.(2476-2478)tTt>tCt	p.F826S	SCN2A_ENST00000357398.3_Missense_Mutation_p.F826S|SCN2A_ENST00000283256.6_Missense_Mutation_p.F826S|SCN2A_ENST00000375427.2_Missense_Mutation_p.F826S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	826					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGAATATTTTTGATGGTTTT	0.383																																					p.F826S		.											.	SCN2A-142	0			c.T2477C						.						153.0	159.0	157.0					2																	166198894		2203	4300	6503	SO:0001583	missense	6326	exon14			ATATTTTTGATGG	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2477T>C	2.37:g.166198894T>C	ENSP00000364586:p.Phe826Ser	108	1		136	44	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.019991	0.93462	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99569	0.9845	H	0.99404	4.55	0.80722	D	1	D;P	0.76494	0.999;0.815	D;P	0.72982	0.979;0.733	D	0.97543	1.0087	10	0.87932	D	0	.	15.766	0.78126	0.0:0.0:0.0:1.0	.	826;826	Q99250-2;Q99250	.;SCN2A_HUMAN	S	826	ENSP00000364586:F826S;ENSP00000349973:F826S;ENSP00000283256:F826S;ENSP00000364576:F826S	ENSP00000283256:F826S	F	+	2	0	SCN2A	165907140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.126000	0.65437	0.523000	0.50628	TTT	.		0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
CSRNP3	80034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	166535679	166535679	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166535679G>T	ENST00000342316.4	+	5	1446	c.1174G>T	c.(1174-1176)Ggc>Tgc	p.G392C	CSRNP3_ENST00000409420.1_Missense_Mutation_p.G424C|CSRNP3_ENST00000314499.7_Missense_Mutation_p.G392C	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	392					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CAAAGGAGATGGCTTCGTGGA	0.512																																					p.G392C		.											.	CSRNP3-157	0			c.G1174T						.						124.0	114.0	117.0					2																	166535679		2203	4300	6503	SO:0001583	missense	80034	exon7			GGAGATGGCTTCG	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1174G>T	2.37:g.166535679G>T	ENSP00000344042:p.Gly392Cys	75	0		73	28	NM_001172173	0	0	0	0	0	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562656	0.27915	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.79	-4.78	0.03209	.	0.547765	0.21435	N	0.074593	T	0.22044	0.0531	N	0.14661	0.345	0.20489	N	0.999891	P	0.38617	0.64	B	0.33254	0.16	T	0.28170	-1.0052	10	0.66056	D	0.02	-2.911	9.502	0.39024	0.1763:0.274:0.5496:0.0	.	392	Q8WYN3	CSRN3_HUMAN	C	392;399;392;392;424	ENSP00000412081:G392C;ENSP00000318258:G392C;ENSP00000344042:G392C;ENSP00000387195:G424C	ENSP00000318258:G392C	G	+	1	0	CSRNP3	166243925	1.000000	0.71417	0.979000	0.43373	0.871000	0.50021	2.621000	0.46418	-0.347000	0.08299	-0.290000	0.09829	GGC	.		0.512	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	
CSRNP3	80034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	166535970	166535970	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166535970G>A	ENST00000342316.4	+	5	1737	c.1465G>A	c.(1465-1467)Ggt>Agt	p.G489S	CSRNP3_ENST00000409420.1_Missense_Mutation_p.G521S|CSRNP3_ENST00000314499.7_Missense_Mutation_p.G489S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	489					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGAGGCCTATGGTGCCTCCCA	0.507																																					p.G489S		.											.	CSRNP3-157	0			c.G1465A						.						82.0	71.0	75.0					2																	166535970		2203	4300	6503	SO:0001583	missense	80034	exon7			GCCTATGGTGCCT	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1465G>A	2.37:g.166535970G>A	ENSP00000344042:p.Gly489Ser	224	0		255	81	NM_001172173	0	0	0	0	0	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	9.009	0.982049	0.18812	.	.	ENSG00000178662	ENST00000314499;ENST00000342316;ENST00000409420	T;T;T	0.41758	0.99;0.99;0.99	5.88	4.1	0.47936	.	0.243172	0.41605	D	0.000841	T	0.21631	0.0521	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.16364	-1.0405	9	.	.	.	-10.7231	5.6358	0.17536	0.2216:0.0:0.6387:0.1397	.	489	Q8WYN3	CSRN3_HUMAN	S	489;489;521	ENSP00000318258:G489S;ENSP00000344042:G489S;ENSP00000387195:G521S	.	G	+	1	0	CSRNP3	166244216	0.150000	0.22732	0.423000	0.26634	0.984000	0.73092	0.576000	0.23744	0.832000	0.34804	0.655000	0.94253	GGT	.		0.507	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	
GALNT3	2591	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	166626967	166626967	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166626967delT	ENST00000392701.3	-	2	1019	c.244delA	c.(244-246)atafs	p.I82fs		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	82					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GGTGCTCCTATTTGCATTTTT	0.408																																					p.I82X		.											.	GALNT3-92	0			c.244delA						.						140.0	121.0	128.0					2																	166626967		2203	4300	6503	SO:0001589	frameshift_variant	2591	exon2			CTCCTATTTGCAT		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.244delA	2.37:g.166626967delT	ENSP00000376465:p.Ile82fs	119	0		137	36	NM_004482	0	0	0	0	0	Q53TG9|Q7Z476	Nonsense_Mutation	DEL	ENST00000392701.3	37	CCDS2226.1																																																																																			.		0.408	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482	
TTC21B	79809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	166781171	166781171	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:166781171T>A	ENST00000243344.7	-	12	1541	c.1404A>T	c.(1402-1404)caA>caT	p.Q468H		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	468					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GACAAAGAGGTTGCCCAGGAC	0.353																																					p.Q468H		.											.	TTC21B-94	0			c.A1404T						.						51.0	51.0	51.0					2																	166781171		2203	4300	6503	SO:0001583	missense	79809	exon12			AAGAGGTTGCCCA	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1404A>T	2.37:g.166781171T>A	ENSP00000243344:p.Gln468His	133	0		132	56	NM_024753	0	0	0	0	0	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751953	0.69533	.	.	ENSG00000123607	ENST00000243344	T	0.61627	0.09	5.76	-6.06	0.02165	.	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.76683	-0.2869	10	0.54805	T	0.06	-9.4494	19.653	0.95825	0.0:0.7896:0.0:0.2104	.	468	Q7Z4L5	TT21B_HUMAN	H	468	ENSP00000243344:Q468H	ENSP00000243344:Q468H	Q	-	3	2	TTC21B	166489417	0.151000	0.22747	0.890000	0.34922	0.734000	0.41952	-0.480000	0.06559	-1.272000	0.02427	-0.379000	0.06801	CAA	.		0.353	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	
SCN9A	6335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	167060640	167060640	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:167060640C>A	ENST00000409435.1	-	25	4598	c.4599G>T	c.(4597-4599)atG>atT	p.M1533I	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.M1534I|SCN9A_ENST00000375387.4_Missense_Mutation_p.M1534I|SCN9A_ENST00000409672.1_Missense_Mutation_p.M1522I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1533					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTTTCTACCATCATGGTTA	0.343																																					p.M1522I		.											.	SCN9A-181	0			c.G4566T						.						123.0	111.0	115.0					2																	167060640		1889	4149	6038	SO:0001583	missense	6335	exon26			TTCTACCATCATG	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4599G>T	2.37:g.167060640C>A	ENSP00000386330:p.Met1533Ile	104	0		101	26	NM_002977	0	0	0	0	0	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369079	0.82463	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.99074	0.9682	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.99177	1.0866	10	0.87932	D	0	.	17.5054	0.87743	0.0:1.0:0.0:0.0	.	1522	E7EUN6	.	I	1522;1534;1534;1533	ENSP00000386306:M1522I;ENSP00000364536:M1534I;ENSP00000304748:M1534I;ENSP00000386330:M1533I	ENSP00000304748:M1534I	M	-	3	0	SCN9A	166768886	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.743000	0.85020	2.210000	0.71456	0.455000	0.32223	ATG	.		0.343	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	168100697	168100697	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:168100697C>T	ENST00000409195.1	+	9	2884	c.2795C>T	c.(2794-2796)aCa>aTa	p.T932I	XIRP2_ENST00000295237.9_Missense_Mutation_p.T932I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T710I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	757					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGGAGTACACACGAACAGTG	0.338																																					p.T932I		.											.	XIRP2-104	0			c.C2795T						.						52.0	50.0	50.0					2																	168100697		1830	4092	5922	SO:0001583	missense	129446	exon9			AGTACACACGAAC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2795C>T	2.37:g.168100697C>T	ENSP00000386840:p.Thr932Ile	174	0		154	50	NM_152381	0	0	0	0	0	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.129886	0.01756	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02369	4.32;4.32;4.32	5.98	1.33	0.21861	.	0.524557	0.22185	N	0.063444	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.49624	-0.8920	10	0.10636	T	0.68	-7.4138	9.0773	0.36529	0.0:0.3158:0.0:0.6842	.	757;757;710	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	932;932;710	ENSP00000386840:T932I;ENSP00000295237:T932I;ENSP00000387255:T710I	ENSP00000295237:T932I	T	+	2	0	XIRP2	167808943	0.000000	0.05858	0.786000	0.31890	0.938000	0.57974	0.085000	0.14912	0.326000	0.23384	-0.150000	0.13652	ACA	.		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	168107417	168107417	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:168107417C>A	ENST00000409195.1	+	9	9604	c.9515C>A	c.(9514-9516)cCt>cAt	p.P3172H	XIRP2_ENST00000295237.9_Missense_Mutation_p.P3172H|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2950H|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2997					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACACTTCCCCTTCTCCACCC	0.498																																					p.P3172H		.											.	XIRP2-104	0			c.C9515A						.						86.0	85.0	86.0					2																	168107417		1909	4124	6033	SO:0001583	missense	129446	exon9			CTTCCCCTTCTCC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9515C>A	2.37:g.168107417C>A	ENSP00000386840:p.Pro3172His	111	0		127	40	NM_152381	0	0	0	0	0	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111878	0.37242	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03468	3.93;3.93;3.92	5.75	4.88	0.63580	.	0.061993	0.64402	D	0.000004	T	0.15696	0.0378	M	0.72894	2.215	0.51767	D	0.999934	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.936;0.971;0.983	T	0.00192	-1.1935	10	0.87932	D	0	-7.9197	12.2172	0.54412	0.0:0.9197:0.0:0.0803	.	2997;2997;2950	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	3172;3172;2950;586	ENSP00000386840:P3172H;ENSP00000295237:P3172H;ENSP00000387255:P2950H	ENSP00000295237:P3172H	P	+	2	0	XIRP2	167815663	0.987000	0.35691	0.015000	0.15790	0.249000	0.25844	3.007000	0.49536	1.444000	0.47605	0.460000	0.39030	CCT	.		0.498	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	168107715	168107715	+	Nonsense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:168107715T>G	ENST00000409195.1	+	9	9902	c.9813T>G	c.(9811-9813)taT>taG	p.Y3271*	XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Y3271*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Y3049*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3096					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGCTACTTATGTTCATAAAG	0.438																																					p.Y3271X		.											.	XIRP2-104	0			c.T9813G						.						80.0	77.0	78.0					2																	168107715		1951	4153	6104	SO:0001587	stop_gained	129446	exon9			TACTTATGTTCAT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9813T>G	2.37:g.168107715T>G	ENSP00000386840:p.Tyr3271*	137	0		175	65	NM_152381	0	0	0	0	0	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	48	13.949363	0.99772	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	.	.	.	5.61	-7.93	0.01156	.	0.188789	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8125	16.2718	0.82624	0.0:0.3357:0.0:0.6643	.	.	.	.	X	3271;3271;3049;685	.	ENSP00000295237:Y3271X	Y	+	3	2	XIRP2	167815961	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.227000	0.02950	-2.260000	0.00692	-1.811000	0.00612	TAT	.		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
CERS6	253782	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	169404169	169404169	+	Silent	SNP	G	G	T	rs112858320	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:169404169G>T	ENST00000305747.6	+	2	821	c.234G>T	c.(232-234)ccG>ccT	p.P78P	CERS6_ENST00000392687.4_Silent_p.P78P	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	78					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AAATTGCTCCGCCCAATGCCA	0.448																																					p.P78P		.											.	.	0			c.G234T						.						103.0	86.0	92.0					2																	169404169		2203	4300	6503	SO:0001819	synonymous_variant	253782	exon2			TGCTCCGCCCAAT	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.234G>T	2.37:g.169404169G>T		94	0		105	45	NM_203463	0	0	0	0	0	Q32M63|Q8N617	Silent	SNP	ENST00000305747.6	37	CCDS2228.1																																																																																			G|0.997;A|0.003		0.448	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463	
G6PC2	57818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	169759005	169759005	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:169759005A>T	ENST00000375363.3	+	2	361	c.269A>T	c.(268-270)tAc>tTc	p.Y90F	G6PC2_ENST00000429379.2_Missense_Mutation_p.Y90F|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	90					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ACTCAGATTTACCCAAATCAC	0.378																																					p.Y90F		.											.	G6PC2-91	0			c.A269T						.						117.0	111.0	113.0					2																	169759005		2203	4300	6503	SO:0001583	missense	57818	exon2			AGATTTACCCAAA	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.269A>T	2.37:g.169759005A>T	ENSP00000364512:p.Tyr90Phe	111	0		81	26	NM_021176	0	0	0	0	0	E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270117	0.80469	.	.	ENSG00000152254	ENST00000375363;ENST00000429379	T;T	0.74842	-0.88;-0.88	5.58	5.58	0.84498	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.269315	0.30142	N	0.010311	T	0.65842	0.2730	L	0.41492	1.28	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.23716	0.048;0.028	T	0.61113	-0.7128	10	0.31617	T	0.26	-20.3242	10.9052	0.47076	0.8598:0.0:0.0:0.1402	.	90;90	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	F	90	ENSP00000364512:Y90F;ENSP00000396939:Y90F	ENSP00000364512:Y90F	Y	+	2	0	G6PC2	169467251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.741000	0.68638	2.112000	0.64535	0.533000	0.62120	TAC	.		0.378	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176	
LRP2	4036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	170088312	170088312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:170088312G>T	ENST00000263816.3	-	31	5424	c.5139C>A	c.(5137-5139)tgC>tgA	p.C1713*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1713	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGGAAAGCAGGCAGAGATGGC	0.468																																					p.C1713X		.											.	LRP2-175	0			c.C5139A						.						68.0	72.0	71.0					2																	170088312		2203	4300	6503	SO:0001587	stop_gained	4036	exon31			AAGCAGGCAGAGA		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5139C>A	2.37:g.170088312G>T	ENSP00000263816:p.Cys1713*	419	0		443	151	NM_004525	0	0	0	0	0	O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	47	13.436540	0.99742	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.51	2.72	0.32119	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0818	0.36556	0.3464:0.0:0.6536:0.0	.	.	.	.	X	1713	.	ENSP00000263816:C1713X	C	-	3	2	LRP2	169796558	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	0.503000	0.22610	0.700000	0.31782	0.650000	0.86243	TGC	.		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
SP5	389058	hgsc.bcm.edu	37	2	171573185	171573185	+	Silent	SNP	G	G	T	rs1134626	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:171573185G>T	ENST00000375281.3	+	2	630	c.468G>T	c.(466-468)ccG>ccT	p.P156P	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	156					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P156P(1)		NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCGCGCTGCCGCCAGGCTACT	0.751													G|||	1034	0.20647	0.0242	0.2017	5008	,	,		6711	0.1815		0.3579	False		,,,				2504	0.3262				p.P156P		.											.	SP5-90	1	Substitution - coding silent(1)	NS(1)	c.G468T						.	G		219,2535		16,187,1174	5.0	6.0	6.0		468	-7.5	0.4	2	dbSNP_86	6	2090,4520		318,1454,1533	no	coding-synonymous	SP5	NM_001003845.2		334,1641,2707	TT,TG,GG		31.6188,7.9521,24.6583		156/399	171573185	2309,7055	1377	3305	4682	SO:0001819	synonymous_variant	389058	exon2			GCTGCCGCCAGGC		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.468G>T	2.37:g.171573185G>T		0	0		20	17	NM_001003845	0	0	0	0	0		Silent	SNP	ENST00000375281.3	37	CCDS33322.1																																																																																			G|0.766;T|0.234		0.751	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581	
HOXD13	3239	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	2	176957863	176957863	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:176957863G>T	ENST00000392539.3	+	1	245	c.245G>T	c.(244-246)cGc>cTc	p.R82L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	82					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ACCTCTGAGCGCACGGGCTCT	0.761			T	NUP98	AML*																																p.R82L		.		Dom	yes		2	2q31-q32	3239	homeo box D13		L	.	HOXD13-658	0			c.G245T						.						10.0	12.0	12.0					2																	176957863		1994	3922	5916	SO:0001583	missense	3239	exon1			CTGAGCGCACGGG	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.245G>T	2.37:g.176957863G>T	ENSP00000376322:p.Arg82Leu	14	0		47	14	NM_000523	0	0	0	0	0		Missense_Mutation	SNP	ENST00000392539.3	37	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101537	0.76983	.	.	ENSG00000128714	ENST00000392539	D	0.94758	-3.51	3.53	3.53	0.40419	.	0.474750	0.16513	N	0.211143	D	0.86397	0.5923	N	0.08118	0	0.33342	D	0.569957	B	0.18461	0.028	B	0.19666	0.026	D	0.85941	0.1458	10	0.45353	T	0.12	.	9.5879	0.39528	0.0:0.0:0.7902:0.2098	.	82	P35453	HXD13_HUMAN	L	82	ENSP00000376322:R82L	ENSP00000376322:R82L	R	+	2	0	HOXD13	176666109	0.989000	0.36119	1.000000	0.80357	0.881000	0.50899	1.321000	0.33678	1.801000	0.52704	0.467000	0.42956	CGC	.		0.761	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1		
HOXD8	3234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	176996244	176996244	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:176996244C>A	ENST00000313173.4	+	2	1404	c.777C>A	c.(775-777)gaC>gaA	p.D259E	HOXD8_ENST00000548663.1_Missense_Mutation_p.D155E|HOXD8_ENST00000450510.2_Missense_Mutation_p.D258E|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.D258E|HOXD8_ENST00000429017.1_Missense_Mutation_p.D75E	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	259					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACAACAAGGACAAATTTCCCG	0.493																																					p.D259E		.											.	HOXD8-90	0			c.C777A						.						87.0	101.0	96.0					2																	176996244		2203	4300	6503	SO:0001583	missense	3234	exon2			CAAGGACAAATTT		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.777C>A	2.37:g.176996244C>A	ENSP00000315949:p.Asp259Glu	120	0		133	47	NM_019558	0	0	0	0	0	F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935781	0.34189	.	.	ENSG00000175879	ENST00000429017;ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	D;D;D;D;D	0.91124	-2.69;-2.79;-2.69;-2.54;-2.69	5.65	3.85	0.44370	Homeobox (1);	0.000000	0.64402	D	0.000010	T	0.81898	0.4920	N	0.24115	0.695	0.45541	D	0.99849	B;P	0.39391	0.349;0.671	B;B	0.36464	0.099;0.225	T	0.76255	-0.3026	10	0.22706	T	0.39	.	10.9663	0.47414	0.1297:0.8032:0.0:0.0671	.	258;259	Q8IXZ1;P13378	.;HXD8_HUMAN	E	75;259;258;155;258	ENSP00000406045:D75E;ENSP00000315949:D259E;ENSP00000437431:D258E;ENSP00000448196:D155E;ENSP00000409026:D258E	ENSP00000315949:D259E	D	+	3	2	HOXD8	176704490	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.913000	0.48790	0.722000	0.32252	-0.137000	0.14449	GAC	.		0.493	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1		
OSBPL6	114880	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179209068	179209068	+	Intron	SNP	C	C	A	rs137879178	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179209068C>A	ENST00000190611.4	+	11	1363				OSBPL6_ENST00000315022.2_Missense_Mutation_p.A327E|OSBPL6_ENST00000359685.3_Intron|OSBPL6_ENST00000409045.3_Intron|OSBPL6_ENST00000392505.2_Missense_Mutation_p.A348E|OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000357080.4_Intron	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6						lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAGAGGCTAGCGGCAGCAGTG	0.557																																					p.A348E		.											.	OSBPL6-69	0			c.C1043A						.						49.0	51.0	51.0					2																	179209068		2203	4300	6503	SO:0001627	intron_variant	114880	exon12			GGCTAGCGGCAGC	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.987+4577C>A	2.37:g.179209068C>A		99	0		120	38	NM_001201480	0	0	0	0	0	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045865	0.55110	.	.	ENSG00000079156	ENST00000392505;ENST00000315022	T;T	0.11821	2.74;2.75	6.02	6.02	0.97574	.	0.065610	0.64402	D	0.000011	T	0.33731	0.0873	.	.	.	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.992	T	0.00747	-1.1583	9	0.18276	T	0.48	-13.5024	18.7178	0.91682	0.0:1.0:0.0:0.0	.	327;348	Q9BZF3-3;Q9BZF3-5	.;.	E	348;327	ENSP00000376293:A348E;ENSP00000318723:A327E	ENSP00000318723:A327E	A	+	2	0	OSBPL6	178917314	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.857000	0.98124	0.650000	0.86243	GCG	C|0.999;T|0.001		0.557	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
FKBP7	51661	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179341878	179341878	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179341878C>A	ENST00000424785.2	-	2	342	c.284G>T	c.(283-285)gGc>gTc	p.G95V	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.G95V	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	95	PPIase FKBP-type. {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)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AATGTCTAGGCCTTTTATGAC	0.403																																					p.G95V	Melanoma(26;682 927 5286 17599 46613)	.											.	FKBP7-90	0			c.G284T						.						91.0	91.0	91.0					2																	179341878		2203	4300	6503	SO:0001583	missense	51661	exon2			TCTAGGCCTTTTA	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"""EF-hand domain containing"""	3723	protein-coding gene	gene with protein product		607062	"""FK506-binding protein 7"""			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.284G>T	2.37:g.179341878C>A	ENSP00000413152:p.Gly95Val	119	1		110	33	NM_001135212	0	0	0	0	0	Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913223	0.92178	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.73258	-0.73;-0.73	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92398	0.5927	10	0.87932	D	0	-9.7901	20.1086	0.97902	0.0:1.0:0.0:0.0	.	95;95;95	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	V	95	ENSP00000413152:G95V;ENSP00000415486:G95V	ENSP00000233092:G95V	G	-	2	0	FKBP7	179050124	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.487000	0.81328	2.756000	0.94617	0.563000	0.77884	GGC	.		0.403	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179406032	179406032	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179406032G>T	ENST00000591111.1	-	300	93073	c.92849C>A	c.(92848-92850)cCc>cAc	p.P30950H	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23718H|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23651H|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P23526H|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30023H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32591H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30950	Fibronectin type-III 125. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCAACGATGGGTTTGGAAGG	0.413																																					p.P32591H		.											.	TTN-636	0			c.C97772A						.						69.0	64.0	66.0					2																	179406032		1908	4113	6021	SO:0001583	missense	7273	exon350			ACGATGGGTTTGG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92849C>A	2.37:g.179406032G>T	ENSP00000465570:p.Pro30950His	188	0		184	68	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.128383	0.77549	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68479	-0.33;-0.1;-0.12;-0.14	5.7	5.7	0.88788	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.82075	0.4958	M	0.86573	2.825	0.48571	D	0.999675	P;P;P;D	0.63880	0.621;0.621;0.621;0.993	B;B;B;P	0.55667	0.234;0.234;0.299;0.781	D	0.85087	0.0949	9	0.87932	D	0	.	19.8479	0.96722	0.0:0.0:1.0:0.0	.	23526;23651;23718;30950	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	30023;23526;23718;23651;23523	ENSP00000343764:P30023H;ENSP00000434586:P23526H;ENSP00000340554:P23718H;ENSP00000352154:P23651H	ENSP00000340554:P23718H	P	-	2	0	TTN	179114278	1.000000	0.71417	0.972000	0.41901	0.901000	0.52897	7.650000	0.83521	2.681000	0.91329	0.655000	0.94253	CCC	.		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179422421	179422421	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179422421G>T	ENST00000591111.1	-	278	82961	c.82737C>A	c.(82735-82737)atC>atA	p.I27579I	TTN_ENST00000342175.6_Silent_p.I20347I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.I20280I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.I20155I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.I26652I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.I29220I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27579	Fibronectin type-III 100. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGATCACTGATGCCAAAGC	0.393																																					p.I29220I		.											.	TTN-636	0			c.C87660A						.						322.0	314.0	317.0					2																	179422421		1935	4134	6069	SO:0001819	synonymous_variant	7273	exon328			ATCACTGATGCCA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82737C>A	2.37:g.179422421G>T		220	0		287	92	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179426459	179426459	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179426459G>T	ENST00000591111.1	-	276	79701	c.79477C>A	c.(79477-79479)Cgc>Agc	p.R26493S	TTN_ENST00000342175.6_Missense_Mutation_p.R19261S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19194S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19069S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25566S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R28134S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26493	Fibronectin type-III 92. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCATAGCGGTTTTCTGCA	0.458																																					p.R28134S		.											.	TTN-636	0			c.C84400A						.						82.0	84.0	83.0					2																	179426459		1901	4116	6017	SO:0001583	missense	7273	exon326			CATAGCGGTTTTC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79477C>A	2.37:g.179426459G>T	ENSP00000465570:p.Arg26493Ser	192	0		160	52	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.15	2.448258	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.1	5.21	0.72293	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62245	0.2412	L	0.46670	1.46	0.58432	D	0.999999	D;D;D;P	0.56287	0.975;0.975;0.975;0.954	P;P;P;P	0.55965	0.788;0.788;0.788;0.716	T	0.66300	-0.5958	9	0.87932	D	0	.	16.6485	0.85182	0.0:0.0:0.869:0.131	.	19069;19194;19261;26493	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	25566;19069;19261;19194;19067	ENSP00000343764:R25566S;ENSP00000434586:R19069S;ENSP00000340554:R19261S;ENSP00000352154:R19194S	ENSP00000340554:R19261S	R	-	1	0	TTN	179134705	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.688000	0.68227	1.550000	0.49438	0.650000	0.86243	CGC	.		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179426490	179426490	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179426490A>T	ENST00000591111.1	-	276	79670	c.79446T>A	c.(79444-79446)agT>agA	p.S26482R	TTN_ENST00000342175.6_Missense_Mutation_p.S19250R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19183R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S19058R|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S25555R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S28123R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26482	Fibronectin type-III 92. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGATACTCACTTCCTGTTG	0.433																																					p.S28123R		.											.	TTN-636	0			c.T84369A						.						73.0	74.0	74.0					2																	179426490		1887	4113	6000	SO:0001583	missense	7273	exon326			ATACTCACTTCCT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79446T>A	2.37:g.179426490A>T	ENSP00000465570:p.Ser26482Arg	211	0		186	67	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	9.423	1.083634	0.20309	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.1	4.94	0.65067	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36635	0.0974	N	0.16567	0.415	0.45762	D	0.998657	P;P;P;P	0.39352	0.669;0.669;0.669;0.521	B;B;B;B	0.40636	0.335;0.335;0.335;0.255	T	0.31052	-0.9957	9	0.87932	D	0	.	6.1448	0.20278	0.6913:0.0:0.0673:0.2413	.	19058;19183;19250;26482	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	25555;19058;19250;19183;19056	ENSP00000343764:S25555R;ENSP00000434586:S19058R;ENSP00000340554:S19250R;ENSP00000352154:S19183R	ENSP00000340554:S19250R	S	-	3	2	TTN	179134736	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.869000	0.39519	1.121000	0.41925	-0.297000	0.09499	AGT	.		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179429435	179429435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179429435C>A	ENST00000591111.1	-	276	76725	c.76501G>T	c.(76501-76503)Gag>Tag	p.E25501*	TTN_ENST00000342175.6_Nonsense_Mutation_p.E18269*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E18202*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E18077*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E24574*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E27142*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25501	Fibronectin type-III 85. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCATACTCAAGGCCCTCA	0.418																																					p.E27142X		.											.	TTN-636	0			c.G81424T						.						44.0	45.0	44.0					2																	179429435		1885	4112	5997	SO:0001587	stop_gained	7273	exon326			CATACTCAAGGCC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76501G>T	2.37:g.179429435C>A	ENSP00000465570:p.Glu25501*	132	0		126	22	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	64	83.126784	0.99994	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.02	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.4946	0.61416	0.0:0.8693:0.0:0.1307	.	.	.	.	X	24574;18077;18269;18202;18075	.	ENSP00000340554:E18269X	E	-	1	0	TTN	179137681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.105000	0.57797	1.526000	0.49068	0.650000	0.86243	GAG	.		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179430005	179430005	+	Missense_Mutation	SNP	C	C	T	rs371362606		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179430005C>T	ENST00000591111.1	-	276	76155	c.75931G>A	c.(75931-75933)Gta>Ata	p.V25311I	TTN_ENST00000342175.6_Missense_Mutation_p.V18079I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18012I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V17887I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24384I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V26952I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25311	Ig-like 124.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGCCGTTACGGTGTATTTT	0.413																																					p.V26952I		.											.	TTN-636	0			c.G80854A						.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3771		0,1,1885	128.0	122.0	124.0		54235,54034,73150,53659	-7.1	0.0	2		124	1,8231		0,1,4115	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,2,6000	TT,TC,CC		0.0121,0.0265,0.0167	benign,benign,benign,benign	18079/27119,18012/27052,24384/33424,17887/26927	179430005	2,12002	1886	4116	6002	SO:0001583	missense	7273	exon326			CCGTTACGGTGTA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75931G>A	2.37:g.179430005C>T	ENSP00000465570:p.Val25311Ile	259	0		289	95	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	4.327	0.060108	0.08339	2.65E-4	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.67	-7.05	0.01573	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20981	0.0505	N	0.12422	0.21	0.24060	N	0.996011	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.32745	-0.9895	9	0.87932	D	0	.	8.7258	0.34469	0.0871:0.5508:0.0885:0.2737	.	17887;18012;18079;25311	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	24384;17887;18079;18012;17885	ENSP00000343764:V24384I;ENSP00000434586:V17887I;ENSP00000340554:V18079I;ENSP00000352154:V18012I	ENSP00000340554:V18079I	V	-	1	0	TTN	179138251	0.000000	0.05858	0.001000	0.08648	0.511000	0.34104	-0.666000	0.05280	-1.563000	0.01680	-1.200000	0.01667	GTA	.		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179437248	179437248	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179437248T>C	ENST00000591111.1	-	276	68912	c.68688A>G	c.(68686-68688)acA>acG	p.T22896T	TTN_ENST00000342175.6_Silent_p.T15664T|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.T15597T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.T15472T|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.T21969T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.T24537T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22896	Fibronectin type-III 66. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCATGTGAGTGTGACAGATG	0.438																																					p.T24537T		.											.	TTN-636	0			c.A73611G						.						76.0	73.0	74.0					2																	179437248		1910	4117	6027	SO:0001819	synonymous_variant	7273	exon326			TGTGAGTGTGACA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68688A>G	2.37:g.179437248T>C		92	0		121	44	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179482958	179482958	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179482958G>T	ENST00000591111.1	-	202	42528	c.42304C>A	c.(42304-42306)Cca>Aca	p.P14102T	TTN_ENST00000342175.6_Missense_Mutation_p.P6870T|TTN_ENST00000359218.5_Missense_Mutation_p.P6803T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6678T|TTN_ENST00000342992.6_Missense_Mutation_p.P13175T|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P15743T			Q8WZ42	TITIN_HUMAN	titin	14102	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTCTACTGGCTCACCAGTG	0.413																																					p.P15743T		.											.	TTN-636	0			c.C47227A						.						169.0	166.0	167.0					2																	179482958		1925	4133	6058	SO:0001583	missense	7273	exon252			CTACTGGCTCACC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42304C>A	2.37:g.179482958G>T	ENSP00000465570:p.Pro14102Thr	109	0		99	33	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.32	1.604507	0.28623	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.6	5.6	0.85130	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73393	0.3581	M	0.89478	3.035	0.41231	D	0.986574	P;P;P;P	0.49185	0.92;0.92;0.92;0.92	P;P;P;P	0.53224	0.655;0.655;0.655;0.721	T	0.78814	-0.2056	9	0.87932	D	0	.	19.982	0.97329	0.0:0.0:1.0:0.0	.	6678;6803;6870;14102	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13175;6678;6870;6803;6678	ENSP00000343764:P13175T;ENSP00000434586:P6678T;ENSP00000340554:P6870T;ENSP00000352154:P6803T	ENSP00000340554:P6870T	P	-	1	0	TTN	179191203	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	3.943000	0.56621	2.798000	0.96311	0.650000	0.86243	CCA	.		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179505334	179505334	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179505334G>A	ENST00000591111.1	-	171	35958	c.35734C>T	c.(35734-35736)Cct>Tct	p.P11912S	TTN_ENST00000342175.6_Missense_Mutation_p.P4680S|TTN_ENST00000359218.5_Missense_Mutation_p.P4613S|TTN_ENST00000460472.2_Missense_Mutation_p.P4488S|TTN_ENST00000342992.6_Missense_Mutation_p.P10985S|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P13553S			Q8WZ42	TITIN_HUMAN	titin	11912	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCAACAGGTTTTGGAGGT	0.328																																					p.P13553S		.											.	TTN-636	0			c.C40657T						.						152.0	144.0	146.0					2																	179505334		1819	4077	5896	SO:0001583	missense	7273	exon221			CAACAGGTTTTGG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35734C>T	2.37:g.179505334G>A	ENSP00000465570:p.Pro11912Ser	106	0		88	29	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.44|10.44	1.351309|1.351309	0.24512|0.24512	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000429997;ENST00000446966|ENST00000426232	T;T;T;T|.	0.62364|.	0.03;0.12;0.1;0.09|.	4.97|4.97	-0.166|-0.166	0.13351|0.13351	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.24812|0.24812	0.0602|0.0602	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B;B|.	0.17038|.	0.001;0.001;0.001;0.001;0.013;0.02|.	B;B;B;B;B;B|.	0.19391|.	0.001;0.001;0.002;0.002;0.025;0.011|.	T|T	0.22312|0.22312	-1.0220|-1.0220	9|5	0.87932|.	D|.	0|.	.|.	14.28|14.28	0.66205|0.66205	0.1103:0.3184:0.5714:0.0|0.1103:0.3184:0.5714:0.0	.|.	4488;4613;4680;11912;10679;340|.	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5;A2TKE4|.	.;.;.;TITIN_HUMAN;.;.|.	S|I	10985;4488;4680;4613;4488;874;340;340|207	ENSP00000343764:P10985S;ENSP00000434586:P4488S;ENSP00000340554:P4680S;ENSP00000352154:P4613S|.	ENSP00000340554:P4680S|.	P|T	-|-	1|2	0|0	TTN|TTN	179213579|179213579	0.976000|0.976000	0.34144|0.34144	0.515000|0.515000	0.27774|0.27774	0.614000|0.614000	0.37383|0.37383	0.176000|0.176000	0.16782|0.16782	-0.131000|-0.131000	0.11578|0.11578	-0.340000|-0.340000	0.08031|0.08031	CCT|ACC	.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179517194	179517194	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179517194G>A	ENST00000591111.1	-	157	34821	c.34597C>T	c.(34597-34599)Cct>Tct	p.P11533S	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10606S|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P13040S			Q8WZ42	TITIN_HUMAN	titin	11505	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTAACAGGTGTGACTTCA	0.383																																					p.P13040S		.											.	TTN-636	0			c.C39118T						.						87.0	95.0	92.0					2																	179517194		1806	4064	5870	SO:0001583	missense	7273	exon202			TAACAGGTGTGAC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34597C>T	2.37:g.179517194G>A	ENSP00000465570:p.Pro11533Ser	91	0		94	30	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	15.16	2.752348	0.49362	.	.	ENSG00000155657	ENST00000342992	T	0.72615	-0.67	4.97	3.06	0.35304	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.68824	0.3043	M	0.75085	2.285	0.80722	D	1	B	0.16603	0.018	B	0.17098	0.017	T	0.69580	-0.5107	9	0.87932	D	0	.	10.4391	0.44455	0.0:0.2717:0.5878:0.1405	.	11533	Q8WZ42	TITIN_HUMAN	S	10606	ENSP00000343764:P10606S	ENSP00000343764:P10606S	P	-	1	0	TTN	179225439	0.368000	0.25031	0.986000	0.45419	0.595000	0.36748	0.478000	0.22212	1.071000	0.40834	0.644000	0.83932	CCT	.		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179560965	179560965	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179560965A>T	ENST00000591111.1	-	112	30107	c.29883T>A	c.(29881-29883)gcT>gcA	p.A9961A	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.A9034A|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.A10278A			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACTTCTTCAGCTTTAGAGG	0.328																																					p.A10278A		.											.	TTN-636	0			c.T30834A						.						34.0	28.0	30.0					2																	179560965		1790	4034	5824	SO:0001819	synonymous_variant	7273	exon114			TTCTTCAGCTTTA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29883T>A	2.37:g.179560965A>T		22	0		19	7	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179598048	179598048	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179598048C>T	ENST00000591111.1	-	52	15245	c.15021G>A	c.(15019-15021)gaG>gaA	p.E5007E	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.E4080E|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.E5324E			Q8WZ42	TITIN_HUMAN	titin	12386	Ig-like 30.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCGTGCAGCTCAGCTGAAT	0.403																																					p.E5324E		.											.	TTN-636	0			c.G15972A						.						90.0	87.0	88.0					2																	179598048		1850	4106	5956	SO:0001819	synonymous_variant	7273	exon54			GTGCAGCTCAGCT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15021G>A	2.37:g.179598048C>T		96	0		99	31	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179610937	179610937	+	Intron	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179610937G>T	ENST00000591111.1	-	46	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.A5397D			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAATACAGCATCTGAATT	0.328																																					p.A5397D		.											.	TTN-636	0			c.C16190A						.						61.0	64.0	63.0					2																	179610937		2203	4299	6502	SO:0001627	intron_variant	7273	exon46			AATACAGCATCTG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4289C>A	2.37:g.179610937G>T		69	0		62	23	NM_133379	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	16.42	3.119257	0.56505	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.79352	-1.26	5.88	4.99	0.66335	.	.	.	.	.	D	0.90693	0.7080	H	0.96662	3.86	0.80722	D	1	P	0.49783	0.928	P	0.56042	0.79	D	0.93727	0.7038	9	0.72032	D	0.01	.	16.8805	0.86061	0.0:0.1283:0.8717:0.0	.	5397	Q8WZ42-6	.	D	5397;678	ENSP00000354117:A5397D	ENSP00000304714:A678D	A	-	2	0	TTN	179319182	1.000000	0.71417	0.089000	0.20774	0.992000	0.81027	5.393000	0.66279	1.451000	0.47736	0.655000	0.94253	GCT	.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	179616717	179616717	+	Intron	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179616717G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.D3470E			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAAAAGGCGTCACGTGTAT	0.358																																					p.D3470E		.											.	TTN-636	0			c.C10410A						.						138.0	154.0	149.0					2																	179616717		2203	4299	6502	SO:0001627	intron_variant	7273	exon46			AAAGGCGTCACGT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1133C>A	2.37:g.179616717G>T		64	1		43	16	NM_133379	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	0.005	-2.148036	0.00328	.	.	ENSG00000155657	ENST00000360870;ENST00000446208	T	0.56275	0.47	5.86	-6.44	0.01920	.	.	.	.	.	T	0.18964	0.0455	N	0.08118	0	0.47308	D	0.999382	B	0.15719	0.014	B	0.15484	0.013	T	0.40021	-0.9585	9	0.02654	T	1	.	4.3581	0.11188	0.2641:0.089:0.4493:0.1976	.	3470	Q8WZ42-6	.	E	3470;75	ENSP00000354117:D3470E	ENSP00000354117:D3470E	D	-	3	2	TTN	179324962	0.013000	0.17824	0.243000	0.24186	0.096000	0.18686	-0.306000	0.08178	-0.759000	0.04684	-1.731000	0.00696	GAC	.		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	bcgsc.ca;mdanderson.org	37	2	179634824	179634824	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179634824G>T	ENST00000591111.1	-	36	8828	c.8604C>A	c.(8602-8604)gtC>gtA	p.V2868V	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Silent_p.V2822V|TTN_ENST00000359218.5_Silent_p.V2822V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Silent_p.V2822V|TTN_ENST00000342992.6_Silent_p.V2868V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.V2868V|TTN_ENST00000360870.5_Silent_p.V2868V			Q8WZ42	TITIN_HUMAN	titin	13196					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAATTGCCCGACCACAGCTG	0.483																																					p.V2868V		.											.	TTN-636	0			c.C8604A						.						157.0	149.0	152.0					2																	179634824		2203	4300	6503	SO:0001819	synonymous_variant	7273	exon36			TTGCCCGACCACA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8604C>A	2.37:g.179634824G>T		92	2		117	50	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
NCKAP1	10787	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	183817593	183817593	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:183817593T>A	ENST00000361354.4	-	22	2803	c.2431A>T	c.(2431-2433)Atg>Ttg	p.M811L	NCKAP1_ENST00000360982.2_Missense_Mutation_p.M817L	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	811					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AACGCTTTCATTGCAGGAAAA	0.353																																					p.M817L		.											.	NCKAP1-92	0			c.A2449T						.						89.0	83.0	85.0					2																	183817593		2203	4299	6502	SO:0001583	missense	10787	exon23			CTTTCATTGCAGG	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2431A>T	2.37:g.183817593T>A	ENSP00000355348:p.Met811Leu	122	0		152	46	NM_205842	0	0	0	0	0	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	9.843	1.191631	0.21954	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.27720	1.65;1.65	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	N	0.02802	-0.49	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.004	T	0.15636	-1.0430	10	0.15499	T	0.54	-15.8639	16.1008	0.81169	0.0:0.0:0.0:1.0	.	811;817	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	L	811;817	ENSP00000355348:M811L;ENSP00000354251:M817L	ENSP00000354251:M817L	M	-	1	0	NCKAP1	183525838	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.997000	0.88414	2.206000	0.71126	0.533000	0.62120	ATG	.		0.353	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
ZNF804A	91752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	185800948	185800948	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:185800948T>C	ENST00000302277.6	+	4	1419	c.825T>C	c.(823-825)acT>acC	p.T275T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	275							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGGAGAAAACTAACTCTTTTC	0.373																																					p.T275T		.											.	ZNF804A-163	0			c.T825C						.						74.0	69.0	71.0					2																	185800948		2203	4299	6502	SO:0001819	synonymous_variant	91752	exon4			GAAAACTAACTCT	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.825T>C	2.37:g.185800948T>C		63	0		60	19	NM_194250	0	0	0	0	0	A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																			.		0.373	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
FSIP2	401024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	186670638	186670638	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:186670638T>A	ENST00000424728.1	+	17	16605	c.16605T>A	c.(16603-16605)aaT>aaA	p.N5535K	FSIP2_ENST00000343098.5_Missense_Mutation_p.N5624K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5535										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATAGTGAGAATGTATCAAAAG	0.323																																					p.N5624K		.											.	FSIP2-90	0			c.T16872A						.						65.0	65.0	65.0					2																	186670638		1822	4068	5890	SO:0001583	missense	401024	exon17			TGAGAATGTATCA	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16605T>A	2.37:g.186670638T>A	ENSP00000401306:p.Asn5535Lys	131	0		139	56	NM_173651	0	0	0	0	0	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	T	17.62	3.433927	0.62955	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.44083	0.93;0.94	5.22	4.03	0.46877	.	.	.	.	.	T	0.23289	0.0563	N	0.12746	0.255	0.09310	N	1	.	.	.	.	.	.	T	0.22068	-1.0227	7	0.15066	T	0.55	.	8.0246	0.30430	0.1808:0.0:0.0:0.8192	.	.	.	.	K	5624;5535	ENSP00000344403:N5624K;ENSP00000401306:N5535K	ENSP00000344403:N5624K	N	+	3	2	FSIP2	186378883	0.001000	0.12720	0.001000	0.08648	0.625000	0.37756	0.770000	0.26618	0.942000	0.37525	0.482000	0.46254	AAT	.		0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
FAM171B	165215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	187625878	187625878	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:187625878T>C	ENST00000304698.5	+	7	1254	c.1051T>C	c.(1051-1053)Tac>Cac	p.Y351H		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	351						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CATAACTGCCTACCACACAGT	0.333																																					p.Y351H		.											.	FAM171B-141	0			c.T1051C						.						160.0	145.0	150.0					2																	187625878		2203	4300	6503	SO:0001583	missense	165215	exon7			ACTGCCTACCACA	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1051T>C	2.37:g.187625878T>C	ENSP00000304108:p.Tyr351His	377	0		423	175	NM_177454	0	0	0	0	0	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.433929	0.62955	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.58358	0.34	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.71206	2.165	0.54753	D	0.999989	D;D	0.57899	0.981;0.981	P;P	0.57101	0.813;0.813	T	0.72030	-0.4413	10	0.87932	D	0	-11.0759	16.226	0.82293	0.0:0.0:0.0:1.0	.	351;352	Q6P995;A8K122	F171B_HUMAN;.	H	351	ENSP00000304108:Y351H	ENSP00000272804:Y351H	Y	+	1	0	FAM171B	187334123	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.686000	0.68211	2.230000	0.72887	0.528000	0.53228	TAC	.		0.333	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
CALCRL	10203	broad.mit.edu	37	2	188245197	188245197	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:188245197C>T	ENST00000409998.1	-	8	1186	c.405G>A	c.(403-405)gtG>gtA	p.V135V	CALCRL_ENST00000410068.1_Silent_p.V135V|CALCRL_ENST00000392370.3_Silent_p.V135V|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	135					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GACATACCTTCACTTTCTCGT	0.343																																					p.V135V		.											.	CALCRL-523	0			c.G405A						.						180.0	184.0	183.0					2																	188245197		2203	4300	6503	SO:0001819	synonymous_variant	10203	exon6			TACCTTCACTTTC	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.405G>A	2.37:g.188245197C>T		60	0		59	4	NM_001271751	0	0	0	0	0	A8K6G5|A8KAD3|Q53S02|Q53TS5	Silent	SNP	ENST00000409998.1	37	CCDS2293.1																																																																																			.		0.343	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795	
PMS1	5378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	190719368	190719368	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:190719368G>C	ENST00000441310.2	+	9	1603	c.1370G>C	c.(1369-1371)tGt>tCt	p.C457S	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.C281S|PMS1_ENST00000418224.3_Missense_Mutation_p.C281S|PMS1_ENST00000447232.2_Missense_Mutation_p.C457S|PMS1_ENST00000409823.3_Missense_Mutation_p.C418S	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	457					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AGTAAAACTTGTTTTATAAGT	0.353			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																													p.C457S		.	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	.	PMS1-1396	0			c.G1370C						.						62.0	65.0	64.0					2																	190719368		2202	4299	6501	SO:0001583	missense	5378	exon9			AAACTTGTTTTAT		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1370G>C	2.37:g.190719368G>C	ENSP00000406490:p.Cys457Ser	101	0		98	30	NM_001128144	0	0	0	0	0	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.528295	0.00959	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;D;D;D;D;D	0.95949	-2.18;-1.85;-2.33;-2.7;-1.85;-2.0;-3.86	4.69	1.73	0.24493	.	1.650300	0.02345	N	0.075293	D	0.89399	0.6704	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B	0.27971	0.001;0.196;0.001;0.102;0.144;0.004;0.001	B;B;B;B;B;B;B	0.22601	0.004;0.021;0.002;0.04;0.03;0.006;0.004	T	0.81711	-0.0808	10	0.13853	T	0.58	-0.7974	4.0702	0.09879	0.1671:0.1279:0.5746:0.1304	.	457;418;418;242;418;457;457	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	S	281;457;281;418;457;281;396;242	ENSP00000406490:C457S;ENSP00000404492:C281S;ENSP00000387125:C418S;ENSP00000401064:C457S;ENSP00000398378:C281S;ENSP00000389938:C396S;ENSP00000387169:C242S	ENSP00000376149:C281S	C	+	2	0	PMS1	190427613	0.000000	0.05858	0.876000	0.34364	0.064000	0.16182	-0.275000	0.08525	1.173000	0.42796	0.460000	0.39030	TGT	.		0.353	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2		
MSTN	2660	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	190927030	190927030	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:190927030C>A	ENST00000260950.4	-	1	425	c.293G>T	c.(292-294)aGg>aTg	p.R98M	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	98					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GCTGTCATCCCTCTGGACATC	0.443																																					p.R98M		.											.	MSTN-650	0			c.G293T						.						141.0	127.0	132.0					2																	190927030		2203	4300	6503	SO:0001583	missense	2660	exon1			TCATCCCTCTGGA	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.293G>T	2.37:g.190927030C>A	ENSP00000260950:p.Arg98Met	176	1		208	87	NM_005259	0	0	0	0	0	A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303643	0.40795	.	.	ENSG00000138379	ENST00000260950	T	0.65364	-0.15	5.35	4.47	0.54385	Transforming growth factor-beta, N-terminal (1);	0.097279	0.64402	D	0.000001	T	0.53417	0.1795	L	0.48642	1.525	0.36299	D	0.856888	B	0.02656	0.0	B	0.16722	0.016	T	0.59085	-0.7520	10	0.56958	D	0.05	-4.0963	9.0001	0.36077	0.149:0.7778:0.0:0.0732	.	98	O14793	GDF8_HUMAN	M	98	ENSP00000260950:R98M	ENSP00000260950:R98M	R	-	2	0	MSTN	190635275	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	3.901000	0.56303	1.464000	0.47987	0.655000	0.94253	AGG	.		0.443	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259	
MSTN	2660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	190927320	190927320	+	Start_Codon_SNP	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:190927320C>A	ENST00000260950.4	-	1	135	c.3G>T	c.(1-3)atG>atT	p.M1I	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	1					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GCAGTTTTTGCATGATTTTAA	0.303																																					p.M1I		.											.	MSTN-650	0			c.G3T						.						53.0	53.0	53.0					2																	190927320		2203	4299	6502	SO:0001582	initiator_codon_variant	2660	exon1			TTTTTGCATGATT	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.3G>T	2.37:g.190927320C>A	ENSP00000260950:p.Met1Ile	31	0		36	13	NM_005259	0	0	0	0	0	A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107829	0.37242	.	.	ENSG00000138379	ENST00000260950	T	0.68331	-0.32	5.34	4.45	0.53987	.	0.114194	0.85682	N	0.000000	T	0.59224	0.2178	.	.	.	0.54753	D	0.999989	P	0.37141	0.584	B	0.31946	0.138	T	0.64437	-0.6408	9	0.62326	D	0.03	-10.8551	15.718	0.77685	0.1372:0.8628:0.0:0.0	.	1	O14793	GDF8_HUMAN	I	1	ENSP00000260950:M1I	ENSP00000260950:M1I	M	-	3	0	MSTN	190635565	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.058000	0.57463	1.463000	0.47967	0.650000	0.86243	ATG	.		0.303	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259	Missense_Mutation
TMEFF2	23671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	192863915	192863915	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:192863915A>T	ENST00000272771.5	-	6	1740	c.556T>A	c.(556-558)Tgt>Agt	p.C186S	AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000392314.1_Missense_Mutation_p.C186S|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000424116.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	186	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GTTTGAGAACAGTCAATATTA	0.333																																					p.C186S	Pancreas(50;1277 1381 28487 47072)	.											.	TMEFF2-524	0			c.T556A						.						102.0	97.0	99.0					2																	192863915		2203	4300	6503	SO:0001583	missense	23671	exon6			GAGAACAGTCAAT	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.556T>A	2.37:g.192863915A>T	ENSP00000272771:p.Cys186Ser	80	0		97	34	NM_016192	0	0	0	0	0	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.817990	0.71028	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	D;D	0.94184	-3.37;-3.37	5.74	5.74	0.90152	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.139082	0.64402	D	0.000002	D	0.97235	0.9096	M	0.90542	3.125	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97814	1.0252	10	0.62326	D	0.03	-9.7198	16.3426	0.83092	1.0:0.0:0.0:0.0	.	186	Q9UIK5	TEFF2_HUMAN	S	186	ENSP00000376128:C186S;ENSP00000272771:C186S	ENSP00000272771:C186S	C	-	1	0	TMEFF2	192572160	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	8.910000	0.92685	2.317000	0.78254	0.460000	0.39030	TGT	.		0.333	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192	
TMEFF2	23671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	193044393	193044393	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:193044393C>A	ENST00000272771.5	-	4	1624		c.e4+1		TMEFF2_ENST00000409056.3_Missense_Mutation_p.G147V|TMEFF2_ENST00000392314.1_Splice_Site	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GCAACTCCTACCTCCATCTCC	0.299																																					.	Pancreas(50;1277 1381 28487 47072)	.											.	TMEFF2-524	0			c.439+1G>T						.						68.0	73.0	71.0					2																	193044393		2203	4293	6496	SO:0001630	splice_region_variant	23671	exon5			CTCCTACCTCCAT	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.439+1G>T	2.37:g.193044393C>A		207	0		151	60	NM_016192	0	0	0	0	0	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Splice_Site	SNP	ENST00000272771.5	37	CCDS2314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.901687|3.901687	0.72754|0.72754	.|.	.|.	ENSG00000144339|ENSG00000144339	ENST00000392314;ENST00000272771|ENST00000409056	.|T	.|0.69685	.|-0.42	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78220	.|0.4249	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.73594	.|-0.3933	.|8	.|0.20519	.|T	.|0.43	.|.	16.3671|16.3671	0.83335|0.83335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|147	.|Q9UIK5-3	.|.	.|V	-1|147	.|ENSP00000386871:G147V	.|ENSP00000386871:G147V	.|G	-|-	.|2	.|0	TMEFF2|TMEFF2	192752638|192752638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.884000|0.884000	0.51177|0.51177	5.846000|5.846000	0.69444|0.69444	2.536000|2.536000	0.85505|0.85505	0.591000|0.591000	0.81541|0.81541	.|GGT	.		0.299	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192	Intron
DNAH7	56171	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	196737099	196737099	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:196737099T>A	ENST00000312428.6	-	40	6608	c.6508A>T	c.(6508-6510)Act>Tct	p.T2170S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2170	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTAGCTGGAGTAGGCAAGAGA	0.373																																					p.T2170S		.											.	DNAH7-102	0			c.A6508T						.						180.0	166.0	170.0					2																	196737099		1866	4103	5969	SO:0001583	missense	56171	exon40			CTGGAGTAGGCAA	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6508A>T	2.37:g.196737099T>A	ENSP00000311273:p.Thr2170Ser	128	1		168	54	NM_018897	0	0	0	0	0	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622452	0.87460	.	.	ENSG00000118997	ENST00000312428	T	0.43688	0.94	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.69753	0.3146	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77515	-0.2559	10	0.87932	D	0	.	13.973	0.64252	0.0:0.0:0.0:1.0	.	2170	Q8WXX0	DYH7_HUMAN	S	2170	ENSP00000311273:T2170S	ENSP00000311273:T2170S	T	-	1	0	DNAH7	196445344	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	7.760000	0.85248	2.029000	0.59856	0.528000	0.53228	ACT	.		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
CCDC150	284992	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	197511082	197511082	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:197511082A>G	ENST00000389175.4	+	2	165	c.30A>G	c.(28-30)acA>acG	p.T10T	CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR|CCDC150_ENST00000472405.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	10										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGAAACTACAGTGTCCAGAC	0.428																																					p.T10T		.											.	.	0			c.A30G						.						165.0	154.0	157.0					2																	197511082		1938	4126	6064	SO:0001819	synonymous_variant	284992	exon2			AACTACAGTGTCC		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.30A>G	2.37:g.197511082A>G		214	1		256	89	NM_001080539	0	0	0	0	0	Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	CCDS46478.1																																																																																			.		0.428	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	
PLCL1	5334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	198950268	198950268	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:198950268C>A	ENST00000428675.1	+	2	2425	c.2027C>A	c.(2026-2028)cCa>cAa	p.P676Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.P578Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	676	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACTCCGGGTCCAATGATGGAC	0.453																																					p.P676Q		.											.	PLCL1-228	0			c.C2027A						.						58.0	59.0	59.0					2																	198950268		2203	4298	6501	SO:0001583	missense	5334	exon2			CGGGTCCAATGAT	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2027C>A	2.37:g.198950268C>A	ENSP00000402861:p.Pro676Gln	93	0		78	20	NM_006226	0	0	0	0	0	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045421	0.36085	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.51817	0.69;0.69	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.183082	0.39274	N	0.001402	T	0.44052	0.1275	N	0.17723	0.515	0.58432	D	0.999992	P;P	0.48230	0.907;0.907	P;P	0.48738	0.588;0.588	T	0.18618	-1.0331	9	.	.	.	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	676;602	Q15111;B4DYZ4	PLCL1_HUMAN;.	Q	676;578	ENSP00000402861:P676Q;ENSP00000414138:P578Q	.	P	+	2	0	PLCL1	198658513	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	5.855000	0.69510	2.793000	0.96121	0.561000	0.74099	CCA	.		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
NBEAL1	65065	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	204039945	204039945	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:204039945G>T	ENST00000449802.1	+	41	6645	c.6312G>T	c.(6310-6312)ggG>ggT	p.G2104G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2104	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATTCTGCGGGGGTCATGCACT	0.378																																					p.G2104G		.											.	NBEAL1-92	0			c.G6312T						.						103.0	103.0	103.0					2																	204039945		1862	4088	5950	SO:0001819	synonymous_variant	65065	exon41			TGCGGGGGTCATG	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6312G>T	2.37:g.204039945G>T		181	1		230	75	NM_001114132	0	0	0	0	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	CCDS46495.1																																																																																			.		0.378	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
ZDBF2	57683	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	207169902	207169902	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207169902G>T	ENST00000374423.3	+	5	1036	c.650G>T	c.(649-651)aGc>aTc	p.S217I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	217							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATTCAGTTAGCAAATGTGAC	0.413																																					p.S217I		.											.	ZDBF2-3	0			c.G650T						.						44.0	43.0	44.0					2																	207169902		1874	4101	5975	SO:0001583	missense	57683	exon5			CAGTTAGCAAATG	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.650G>T	2.37:g.207169902G>T	ENSP00000363545:p.Ser217Ile	129	0		117	36	NM_020923	0	0	0	0	0	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162337	0.57368	.	.	ENSG00000204186	ENST00000374423	T	0.19394	2.15	5.11	-5.42	0.02640	.	0.558528	0.15080	N	0.281712	T	0.08447	0.0210	N	0.22421	0.69	0.09310	N	1	B	0.25563	0.129	B	0.18561	0.022	T	0.15983	-1.0418	10	0.52906	T	0.07	.	1.1801	0.01844	0.3455:0.1047:0.3271:0.2227	.	217	Q9HCK1	ZDBF2_HUMAN	I	217	ENSP00000363545:S217I	ENSP00000363545:S217I	S	+	2	0	ZDBF2	206878147	0.000000	0.05858	0.000000	0.03702	0.695000	0.40330	-0.111000	0.10807	-0.566000	0.06054	-0.355000	0.07637	AGC	.		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	207170268	207170268	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207170268G>A	ENST00000374423.3	+	5	1402	c.1016G>A	c.(1015-1017)tGt>tAt	p.C339Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	339							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACATGGATTGTACCCAAGAA	0.358																																					p.C339Y		.											.	ZDBF2-3	0			c.G1016A						.						51.0	51.0	51.0					2																	207170268		1832	4083	5915	SO:0001583	missense	57683	exon5			TGGATTGTACCCA	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1016G>A	2.37:g.207170268G>A	ENSP00000363545:p.Cys339Tyr	29	0		46	13	NM_020923	0	0	0	0	0	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	2.147	-0.395402	0.04899	.	.	ENSG00000204186	ENST00000374423	T	0.44083	0.93	4.8	-9.61	0.00550	.	2.158240	0.02293	N	0.070501	T	0.20333	0.0489	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09443	-1.0674	10	0.16420	T	0.52	.	3.0404	0.06137	0.5192:0.2059:0.1075:0.1673	.	339	Q9HCK1	ZDBF2_HUMAN	Y	339	ENSP00000363545:C339Y	ENSP00000363545:C339Y	C	+	2	0	ZDBF2	206878513	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-3.440000	0.00470	-1.690000	0.01432	-0.355000	0.07637	TGT	.		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	207174022	207174022	+	Silent	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207174022T>G	ENST00000374423.3	+	5	5156	c.4770T>G	c.(4768-4770)acT>acG	p.T1590T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1590							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGCCTCTACTCCCTCAATGA	0.353																																					p.T1590T		.											.	ZDBF2-3	0			c.T4770G						.						21.0	22.0	22.0					2																	207174022		1830	4073	5903	SO:0001819	synonymous_variant	57683	exon5			CTCTACTCCCTCA	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4770T>G	2.37:g.207174022T>G		44	0		46	18	NM_020923	0	0	0	0	0	Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																			.		0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	207174333	207174333	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207174333G>T	ENST00000374423.3	+	5	5467	c.5081G>T	c.(5080-5082)aGa>aTa	p.R1694I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1694							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGGATCCAAGAAATGCTGGC	0.448																																					p.R1694I		.											.	ZDBF2-3	0			c.G5081T						.						80.0	80.0	80.0					2																	207174333		1931	4124	6055	SO:0001583	missense	57683	exon5			ATCCAAGAAATGC	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5081G>T	2.37:g.207174333G>T	ENSP00000363545:p.Arg1694Ile	50	0		69	28	NM_020923	0	0	0	0	0	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810649	0.32053	.	.	ENSG00000204186	ENST00000374423	T	0.47528	0.84	4.06	0.205	0.15204	.	.	.	.	.	T	0.24586	0.0596	N	0.22421	0.69	0.09310	N	1	P	0.35011	0.48	B	0.25291	0.059	T	0.14896	-1.0456	9	0.56958	D	0.05	.	2.3106	0.04185	0.4316:0.0:0.3367:0.2317	.	1694	Q9HCK1	ZDBF2_HUMAN	I	1694	ENSP00000363545:R1694I	ENSP00000363545:R1694I	R	+	2	0	ZDBF2	206882578	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.046000	0.11983	0.026000	0.15269	0.655000	0.94253	AGA	.		0.448	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ADAM23	8745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	207454220	207454220	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207454220G>T	ENST00000264377.3	+	21	2268	c.1940G>T	c.(1939-1941)tGg>tTg	p.W647L	ADAM23_ENST00000374415.3_Missense_Mutation_p.W647L|ADAM23_ENST00000374416.1_Missense_Mutation_p.W647L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	647					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGAGACCGGTGGATTCAGTGC	0.478																																					p.W647L	Melanoma(194;1127 2130 19620 24042 27855)	.											.	ADAM23-228	0			c.G1940T						.						84.0	82.0	83.0					2																	207454220		2203	4300	6503	SO:0001583	missense	8745	exon21			ACCGGTGGATTCA	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1940G>T	2.37:g.207454220G>T	ENSP00000264377:p.Trp647Leu	81	0		104	38	NM_003812	0	0	0	0	0	A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834046	0.91036	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.20069	2.1;2.1;2.1	5.72	5.72	0.89469	ADAM, cysteine-rich (2);	0.000000	0.64402	D	0.000018	T	0.47097	0.1427	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23726	-1.0180	10	0.49607	T	0.09	.	19.8709	0.96851	0.0:0.0:1.0:0.0	.	647	O75077	ADA23_HUMAN	L	647;647;541;647	ENSP00000264377:W647L;ENSP00000363537:W647L;ENSP00000363536:W647L	ENSP00000264377:W647L	W	+	2	0	ADAM23	207162465	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.837000	0.99465	2.698000	0.92095	0.591000	0.81541	TGG	.		0.478	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812	
DYTN	391475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	207527859	207527859	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207527859G>T	ENST00000452335.2	-	11	1517	c.1401C>A	c.(1399-1401)agC>agA	p.S467R		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	467						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTTGTGTTTGGCTTTGTGCCC	0.483																																					p.S467R		.											.	DYTN-23	0			c.C1401A						.						189.0	178.0	181.0					2																	207527859		2018	4186	6204	SO:0001583	missense	391475	exon11			TGTTTGGCTTTGT	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1401C>A	2.37:g.207527859G>T	ENSP00000396593:p.Ser467Arg	264	0		307	100	NM_001093730	0	0	0	0	0		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608374	0.28623	.	.	ENSG00000232125	ENST00000452335	T	0.20598	2.06	5.12	0.0497	0.14290	.	.	.	.	.	T	0.14700	0.0355	N	0.24115	0.695	0.09310	N	1	P	0.48162	0.906	P	0.47402	0.546	T	0.22138	-1.0225	9	0.14252	T	0.57	-0.454	7.2863	0.26342	0.5491:0.0:0.4509:0.0	.	467	A2CJ06	DYTN_HUMAN	R	467	ENSP00000396593:S467R	ENSP00000396593:S467R	S	-	3	2	DYTN	207236104	0.001000	0.12720	0.005000	0.12908	0.019000	0.09904	-0.107000	0.10873	0.088000	0.17205	-0.143000	0.13931	AGC	.		0.483	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
FASTKD2	22868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	207655353	207655353	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:207655353A>G	ENST00000236980.6	+	11	2304	c.1956A>G	c.(1954-1956)agA>agG	p.R652R	FASTKD2_ENST00000402774.3_Silent_p.R652R|FASTKD2_ENST00000403094.3_Silent_p.R652R	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	652	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GCCACCCCAGAGGATTCCTTG	0.343																																					p.R652R		.											.	FASTKD2-118	0			c.A1956G						.						168.0	170.0	169.0					2																	207655353		2203	4300	6503	SO:0001819	synonymous_variant	22868	exon11			CCCCAGAGGATTC	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1956A>G	2.37:g.207655353A>G		63	0		59	13	NM_001136193	0	0	0	0	0	Q9NVX6|Q9Y2H7	Silent	SNP	ENST00000236980.6	37	CCDS2371.1																																																																																			.		0.343	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929	
CRYGC	1420	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	208992943	208992943	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:208992943A>G	ENST00000282141.3	-	3	546	c.509T>C	c.(508-510)gTg>gCg	p.V170A		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	170	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CAAATCCACCACTCTCCGCAA	0.493																																					p.V170A		.											.	CRYGC-90	0			c.T509C						.						87.0	99.0	95.0					2																	208992943		2203	4300	6503	SO:0001583	missense	1420	exon3			TCCACCACTCTCC		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.509T>C	2.37:g.208992943A>G	ENSP00000282141:p.Val170Ala	93	1		102	40	NM_020989	0	0	0	0	0	Q53R50	Missense_Mutation	SNP	ENST00000282141.3	37	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	A	9.512	1.105993	0.20632	.	.	ENSG00000163254	ENST00000282141	T	0.78364	-1.17	4.85	1.1	0.20463	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.133547	0.50627	D	0.000117	T	0.71358	0.3330	M	0.61703	1.905	0.26314	N	0.977789	B	0.20052	0.041	B	0.28709	0.093	T	0.60005	-0.7347	10	0.34782	T	0.22	.	7.7209	0.28731	0.7365:0.0:0.2635:0.0	.	170	P07315	CRGC_HUMAN	A	170	ENSP00000282141:V170A	ENSP00000282141:V170A	V	-	2	0	CRYGC	208701188	0.040000	0.19996	0.991000	0.47740	0.460000	0.32559	2.356000	0.44116	0.015000	0.14971	-0.467000	0.05162	GTG	.		0.493	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989	
CPS1	1373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	211457659	211457659	+	Silent	SNP	C	C	G	rs148322072		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:211457659C>G	ENST00000233072.5	+	11	1339	c.1143C>G	c.(1141-1143)acC>acG	p.T381T	CPS1_ENST00000451903.2_5'Flank|CPS1_ENST00000430249.2_Silent_p.T387T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	381	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAGAGGTCACCCCGGGGCCAA	0.408																																					p.T387T		.											.	CPS1-162	0			c.C1161G						.						113.0	120.0	118.0					2																	211457659		2203	4300	6503	SO:0001819	synonymous_variant	1373	exon12			GGTCACCCCGGGG	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1143C>G	2.37:g.211457659C>G		61	0		48	21	NM_001122633	0	0	0	0	0	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																			C|1.000;T|0.000		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
CPS1	1373	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	211512667	211512667	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:211512667G>T	ENST00000233072.5	+	26	3418	c.3222G>T	c.(3220-3222)aaG>aaT	p.K1074N	CPS1_ENST00000451903.2_Missense_Mutation_p.K623N|CPS1_ENST00000430249.2_Missense_Mutation_p.K1080N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1074					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATGGTGTCAAGATCATGGGCA	0.512																																					p.K1080N		.											.	CPS1-162	0			c.G3240T						.						111.0	104.0	106.0					2																	211512667		2203	4300	6503	SO:0001583	missense	1373	exon27			TGTCAAGATCATG	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3222G>T	2.37:g.211512667G>T	ENSP00000233072:p.Lys1074Asn	459	2		475	148	NM_001122633	0	0	0	0	0	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126911	0.37533	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97642	-4.47;-4.47;-4.47	5.99	5.06	0.68205	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.043343	0.85682	D	0.000000	D	0.92289	0.7554	N	0.25890	0.77	0.48135	D	0.999599	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	D	0.86401	0.1742	10	0.37606	T	0.19	-7.6746	6.7188	0.23318	0.1392:0.0:0.7114:0.1493	.	1084;1074	Q59HF8;P31327	.;CPSM_HUMAN	N	1080;1082;1074;623	ENSP00000402608:K1080N;ENSP00000233072:K1074N;ENSP00000406136:K623N	ENSP00000233072:K1074N	K	+	3	2	CPS1	211220912	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.806000	0.38892	2.840000	0.97914	0.655000	0.94253	AAG	.		0.512	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
CPS1	1373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	211527846	211527846	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:211527846G>T	ENST00000233072.5	+	33	4123		c.e33-1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTTTCCAACAGGCTCCCATGT	0.403																																					.		.											.	CPS1-162	0			c.3946-1G>T						.						37.0	40.0	39.0					2																	211527846		2203	4300	6503	SO:0001630	splice_region_variant	1373	exon34			CCAACAGGCTCCC	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3928-1G>T	2.37:g.211527846G>T		33	0		41	12	NM_001122633	0	0	0	0	0	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571093	0.65765	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5994	0.95554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211236091	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.396000	0.97270	2.699000	0.92147	0.655000	0.94253	.	.		0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Intron
ERBB4	2066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	212285242	212285242	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:212285242T>A	ENST00000342788.4	-	25	3369	c.3059A>T	c.(3058-3060)gAg>gTg	p.E1020V	ERBB4_ENST00000436443.1_Missense_Mutation_p.E1020V|ERBB4_ENST00000402597.1_Missense_Mutation_p.E1010V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1020					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAAGTACTCCTCAGCATCCAT	0.408										TSP Lung(8;0.080)																											p.E1020V		.											.	ERBB4-1461	0			c.A3059T						.						105.0	95.0	98.0					2																	212285242		2203	4300	6503	SO:0001583	missense	2066	exon25			TACTCCTCAGCAT	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3059A>T	2.37:g.212285242T>A	ENSP00000342235:p.Glu1020Val	95	0		76	38	NM_001042599	0	0	0	0	0	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	31	5.074316	0.94000	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.77358	-1.08;-1.07;-1.09	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.099468	0.64402	D	0.000002	T	0.81517	0.4839	L	0.55213	1.73	0.80722	D	1	D;B;D;D	0.57899	0.98;0.117;0.98;0.981	P;B;P;P	0.52109	0.663;0.138;0.663;0.69	D	0.83705	0.0184	10	0.87932	D	0	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	1010;1010;1020;1020	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	V	1020;1020;1010	ENSP00000342235:E1020V;ENSP00000403204:E1020V;ENSP00000385565:E1010V	ENSP00000342235:E1020V	E	-	2	0	ERBB4	211993487	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.010000	0.88615	2.243000	0.73865	0.533000	0.62120	GAG	.		0.408	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ERBB4	2066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	212578300	212578300	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:212578300C>A	ENST00000342788.4	-	8	1267	c.957G>T	c.(955-957)ggG>ggT	p.G319G	ERBB4_ENST00000436443.1_Silent_p.G319G|ERBB4_ENST00000402597.1_Silent_p.G319G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	319	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACATTTTAATCCCATTTTCTT	0.358										TSP Lung(8;0.080)																											p.G319G		.											.	ERBB4-1461	0			c.G957T						.						134.0	130.0	132.0					2																	212578300		2203	4300	6503	SO:0001819	synonymous_variant	2066	exon8			TTTAATCCCATTT	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.957G>T	2.37:g.212578300C>A		63	0		99	38	NM_001042599	0	0	0	0	0	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	7.640	0.680628	0.14907	.	.	ENSG00000178568	ENST00000260943	D	0.84070	-1.8	5.57	-6.18	0.02085	.	0.149763	0.64402	D	0.000010	T	0.78162	0.4240	.	.	.	0.51233	D	0.999915	.	.	.	.	.	.	T	0.70432	-0.4873	7	0.87932	D	0	.	1.89	0.03246	0.2403:0.1341:0.1584:0.4672	.	.	.	.	V	319	ENSP00000260943:G319V	ENSP00000260943:G319V	G	-	2	0	ERBB4	212286545	0.004000	0.15560	0.821000	0.32701	0.985000	0.73830	-1.551000	0.02178	-1.174000	0.02754	-0.911000	0.02809	GGA	.		0.358	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ERBB4	2066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	212589908	212589908	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:212589908C>A	ENST00000342788.4	-	6	944	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	ERBB4_ENST00000436443.1_Missense_Mutation_p.V212L|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.V212L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	212	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCTGCACACACCGTCCTTGTC	0.512										TSP Lung(8;0.080)																											p.V212L		.											.	ERBB4-1461	0			c.G634T						.						135.0	118.0	124.0					2																	212589908		2203	4300	6503	SO:0001583	missense	2066	exon6			CACACACCGTCCT	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.634G>T	2.37:g.212589908C>A	ENSP00000342235:p.Val212Leu	184	0		189	81	NM_001042599	0	0	0	0	0	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549339	0.65311	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.27890	1.64;1.64;1.64	5.73	5.73	0.89815	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.71296	2.17	0.54753	D	0.999988	D;B;P;D;D	0.60575	0.986;0.185;0.952;0.986;0.988	D;B;P;D;D	0.72982	0.961;0.056;0.52;0.961;0.979	T	0.55075	-0.8197	10	0.51188	T	0.08	.	19.8973	0.96972	0.0:1.0:0.0:0.0	.	212;212;71;212;212	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	L	212	ENSP00000342235:V212L;ENSP00000403204:V212L;ENSP00000385565:V212L	ENSP00000342235:V212L	V	-	1	0	ERBB4	212298153	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	6.089000	0.71384	2.710000	0.92621	0.650000	0.86243	GTG	.		0.512	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ERBB4	2066	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	212812187	212812187	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:212812187C>A	ENST00000342788.4	-	3	699	c.389G>T	c.(388-390)gGa>gTa	p.G130V	ERBB4_ENST00000436443.1_Missense_Mutation_p.G130V|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.G130V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	130					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G130E(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTCTTGAAGTCCAAAGTTTCC	0.343										TSP Lung(8;0.080)																											p.G130V		.											.	ERBB4-1461	1	Substitution - Missense(1)	lung(1)	c.G389T						.						120.0	117.0	118.0					2																	212812187		2203	4300	6503	SO:0001583	missense	2066	exon3			TGAAGTCCAAAGT	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.389G>T	2.37:g.212812187C>A	ENSP00000342235:p.Gly130Val	90	1		116	44	NM_001042599	0	0	0	0	0	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.655227|4.655227	0.88056|0.88056	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846	.|T;T;T;T	.|0.79554	.|-0.94;-0.94;-0.94;-1.28	5.54|5.54	5.54|5.54	0.83059|0.83059	.|EGF receptor, L domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91754|0.91754	0.7392|0.7392	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.996;1.0;1.0	D|D	0.92838|0.92838	0.6286|0.6286	5|10	.|0.87932	.|D	.|0	.|.	19.4961|19.4961	0.95073|0.95073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|130;130;130;130	.|Q15303-4;Q15303-2;Q15303-3;Q15303	.|.;.;.;ERBB4_HUMAN	Y|V	130|130;130;130;71	.|ENSP00000342235:G130V;ENSP00000403204:G130V;ENSP00000385565:G130V;ENSP00000405564:G71V	.|ENSP00000342235:G130V	D|G	-|-	1|2	0|0	ERBB4|ERBB4	212520432|212520432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.818000|7.818000	0.86416|0.86416	2.601000|2.601000	0.87937|0.87937	0.557000|0.557000	0.71058|0.71058	GAC|GGA	.		0.343	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
PRKAG3	53632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	219695074	219695074	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:219695074G>A	ENST00000529249.1	-	4	575	c.260C>T	c.(259-261)aCc>aTc	p.T87I	PRKAG3_ENST00000392098.3_Missense_Mutation_p.T87I|PRKAG3_ENST00000439262.2_Missense_Mutation_p.T62I|PRKAG3_ENST00000545803.1_5'UTR			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	87					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	CTCCAGCCCGGTGGACTCAGC	0.627																																					p.T87I		.											.	PRKAG3-659	0			c.C260T						.						30.0	35.0	33.0					2																	219695074		2202	4291	6493	SO:0001583	missense	53632	exon4			AGCCCGGTGGACT	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.260C>T	2.37:g.219695074G>A	ENSP00000436068:p.Thr87Ile	153	0		203	63	NM_017431	0	0	0	0	0	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913510	0.52439	.	.	ENSG00000115592	ENST00000439262;ENST00000529249;ENST00000392098;ENST00000430489	D;D;T;T	0.82081	-1.55;-1.57;0.22;0.86	5.54	4.6	0.57074	.	0.490068	0.17346	N	0.177576	T	0.75436	0.3849	L	0.32530	0.975	0.26690	N	0.971369	B;B;B	0.31931	0.347;0.011;0.007	B;B;B	0.34652	0.187;0.027;0.012	T	0.66878	-0.5812	10	0.41790	T	0.15	-18.0244	10.2957	0.43623	0.1011:0.0:0.8989:0.0	.	87;62;87	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	I	62;87;87;83	ENSP00000397133:T62I;ENSP00000436068:T87I;ENSP00000375947:T87I;ENSP00000416100:T83I	ENSP00000233944:T87I	T	-	2	0	PRKAG3	219403318	0.901000	0.30685	0.858000	0.33744	0.921000	0.55340	2.401000	0.44513	1.216000	0.43427	0.655000	0.94253	ACC	.		0.627	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1		
WNT10A	80326	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	219746981	219746981	+	Missense_Mutation	SNP	A	A	G	rs368943130		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:219746981A>G	ENST00000258411.3	+	2	845	c.212A>G	c.(211-213)cAg>cGg	p.Q71R		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	71					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCGGCGGCAGATGGAGGTG	0.612																																					p.Q71R		.											.	WNT10A-523	0			c.A212G						.						91.0	85.0	87.0					2																	219746981		2203	4300	6503	SO:0001583	missense	80326	exon2			GGCGGCAGATGGA	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.212A>G	2.37:g.219746981A>G	ENSP00000258411:p.Gln71Arg	248	1		312	112	NM_025216	0	0	0	0	0	Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508137	0.85282	.	.	ENSG00000135925	ENST00000258411	T	0.79247	-1.25	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.91640	0.7358	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94076	0.7340	10	0.87932	D	0	.	13.5718	0.61851	1.0:0.0:0.0:0.0	.	71	Q9GZT5	WN10A_HUMAN	R	71	ENSP00000258411:Q71R	ENSP00000258411:Q71R	Q	+	2	0	WNT10A	219455225	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	8.881000	0.92415	1.809000	0.52856	0.379000	0.24179	CAG	.		0.612	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216	
ANKZF1	55139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	220098512	220098512	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220098512C>G	ENST00000323348.5	+	8	1069	c.895C>G	c.(895-897)Ccc>Gcc	p.P299A	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.P89A|ANKZF1_ENST00000410034.3_Missense_Mutation_p.P299A	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	299						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTGCGTGCTCCCCGCTCTGG	0.607																																					p.P299A		.											.	ANKZF1-92	0			c.C895G						.						91.0	96.0	94.0					2																	220098512		1974	4145	6119	SO:0001583	missense	55139	exon8			CGTGCTCCCCGCT	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.895C>G	2.37:g.220098512C>G	ENSP00000321617:p.Pro299Ala	100	0		115	23	NM_001042410	0	0	0	0	0	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364659	0.82463	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.32988	1.43;1.71;1.43	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.47873	-0.9083	10	0.42905	T	0.14	-15.8807	18.7753	0.91908	0.0:1.0:0.0:0.0	.	243;89;299	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	A	299;89;299	ENSP00000321617:P299A;ENSP00000386815:P89A;ENSP00000386337:P299A	ENSP00000321617:P299A	P	+	1	0	ANKZF1	219806756	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	7.141000	0.77330	2.655000	0.90218	0.655000	0.94253	CCC	.		0.607	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089	
PTPRN	5798	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	220159708	220159708	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220159708C>T	ENST00000295718.2	-	19	2904	c.2664G>A	c.(2662-2664)ctG>ctA	p.L888L	MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000423636.2_Silent_p.L798L|PTPRN_ENST00000409251.3_Silent_p.L859L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	888	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGCGGAAGTCCAGCAGGGGCC	0.756																																					p.L888L		.											.	PTPRN-229	0			c.G2664A						.						18.0	23.0	21.0					2																	220159708		2187	4291	6478	SO:0001819	synonymous_variant	5798	exon19			GAAGTCCAGCAGG		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2664G>A	2.37:g.220159708C>T		28	0		109	40	NM_002846	0	0	0	0	0	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686732	0.29962	.	.	ENSG00000054356	ENST00000443981	.	.	.	5.18	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0404	0.42155	0.0:0.5307:0.3961:0.0732	.	.	.	.	X	91	.	.	W	-	2	0	PTPRN	219867952	0.945000	0.32115	1.000000	0.80357	0.998000	0.95712	0.071000	0.14594	0.744000	0.32741	0.637000	0.83480	TGG	.		0.756	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		
PTPRN	5798	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	220172174	220172174	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220172174A>C	ENST00000295718.2	-	3	512	c.272T>G	c.(271-273)aTg>aGg	p.M91R	PTPRN_ENST00000423636.2_Start_Codon_SNP_p.M1R|PTPRN_ENST00000409251.3_Missense_Mutation_p.M91R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	91					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ACCTTGGGACATGAGTTGTCG	0.532																																					p.M91R		.											.	PTPRN-229	0			c.T272G						.						66.0	64.0	65.0					2																	220172174		2203	4300	6503	SO:0001583	missense	5798	exon3			TGGGACATGAGTT		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.272T>G	2.37:g.220172174A>C	ENSP00000295718:p.Met91Arg	55	1		57	22	NM_002846	0	0	0	0	0	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871492	0.72065	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666;ENST00000536579;ENST00000412847;ENST00000446182;ENST00000440552;ENST00000442029;ENST00000451506	T;T;T	0.06687	3.76;3.83;3.27	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000003	T	0.22044	0.0531	L	0.55481	1.735	0.80722	D	1	P;D	0.55800	0.86;0.973	P;D	0.66196	0.692;0.942	T	0.00281	-1.1851	10	0.52906	T	0.07	.	12.6563	0.56790	1.0:0.0:0.0:0.0	.	91;91	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	91;91;91;1;91;1;1;58;1;1	ENSP00000386638:M91R;ENSP00000295718:M91R;ENSP00000444244:M1R	ENSP00000295718:M91R	M	-	2	0	PTPRN	219880418	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.600000	0.46240	1.972000	0.57404	0.377000	0.23210	ATG	.		0.532	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		
ASIC4	55515	ucsc.edu;bcgsc.ca	37	2	220379239	220379239	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220379239G>T	ENST00000347842.3	+	1	188	c.174G>T	c.(172-174)cgG>cgT	p.R58R	ASIC4_ENST00000358078.4_Silent_p.R58R|AC053503.11_ENST00000429882.1_RNA	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	58					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										ggcagcagcggcagaggcagc	0.657																																					p.R58R		.											.	.	0			c.G174T						.						16.0	14.0	15.0					2																	220379239		2063	4054	6117	SO:0001819	synonymous_variant	55515	exon1			GCAGCGGCAGAGG	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.174G>T	2.37:g.220379239G>T		203	2		359	129	NM_182847	0	0	0	0	0	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	CCDS2442.1																																																																																			.		0.657	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674	
CHPF	79586	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	220405282	220405282	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220405282C>A	ENST00000243776.6	-	4	1399	c.1151G>T	c.(1150-1152)cGc>cTc	p.R384L	CHPF_ENST00000535926.1_Missense_Mutation_p.R222L	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	384					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)|mitochondrion (GO:0005739)	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)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGAGGCCGGGCGGGATGGTGC	0.642																																					p.R384L		.											.	CHPF-90	0			c.G1151T						.						21.0	24.0	23.0					2																	220405282		2202	4300	6502	SO:0001583	missense	79586	exon4			GCCGGGCGGGATG	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1151G>T	2.37:g.220405282C>A	ENSP00000243776:p.Arg384Leu	109	0		191	61	NM_024536	0	0	0	0	0	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409810	0.42715	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.16457	2.34;2.34	4.41	3.53	0.40419	.	0.184216	0.39909	N	0.001230	T	0.14442	0.0349	L	0.48642	1.525	0.38461	D	0.9472	B	0.19331	0.035	B	0.26094	0.066	T	0.08411	-1.0723	10	0.41790	T	0.15	-19.8944	5.2582	0.15558	0.0:0.6393:0.0:0.3607	.	384	Q8IZ52	CHSS2_HUMAN	L	384;222	ENSP00000243776:R384L;ENSP00000445571:R222L	ENSP00000243776:R384L	R	-	2	0	CHPF	220113526	1.000000	0.71417	0.971000	0.41717	0.992000	0.81027	2.583000	0.46094	1.230000	0.43646	0.561000	0.74099	CGC	.		0.642	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536	
OBSL1	23363	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	220419228	220419228	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220419228G>T	ENST00000404537.1	-	15	4900	c.4844C>A	c.(4843-4845)tCc>tAc	p.S1615Y	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.S1523Y	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1615					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCAGCGCAGGGAATCCGCTGT	0.617																																					p.S1615Y		.											.	OBSL1-71	0			c.C4844A						.						37.0	46.0	43.0					2																	220419228		2149	4226	6375	SO:0001583	missense	23363	exon15			CGCAGGGAATCCG	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4844C>A	2.37:g.220419228G>T	ENSP00000385636:p.Ser1615Tyr	318	1		384	130	NM_015311	0	0	0	0	0	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	g	16.04	3.009348	0.54361	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.44482	0.92;0.92	3.84	3.84	0.44239	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39784	0.1091	L	0.36672	1.1	0.45621	D	0.998557	P	0.34837	0.472	B	0.41088	0.347	T	0.44221	-0.9342	9	0.62326	D	0.03	.	13.4058	0.60913	0.0:0.1581:0.8419:0.0	.	1615	O75147	OBSL1_HUMAN	Y	1615;1523	ENSP00000385636:S1615Y;ENSP00000362983:S1523Y	ENSP00000362983:S1523Y	S	-	2	0	OBSL1	220127472	0.129000	0.22400	0.878000	0.34440	0.976000	0.68499	2.847000	0.48270	1.968000	0.57251	0.556000	0.70494	TCC	.		0.617	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
OBSL1	23363	hgsc.bcm.edu	37	2	220435375	220435375	+	Silent	SNP	G	G	A	rs1061399	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220435375G>A	ENST00000404537.1	-	1	636	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	OBSL1_ENST00000265318.4_Silent_p.L194L|OBSL1_ENST00000603926.1_Silent_p.L194L|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373876.1_Silent_p.L194L|OBSL1_ENST00000491370.1_Intron|OBSL1_ENST00000289656.3_Intron|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000373873.4_Silent_p.L194L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	194	Ig-like 2.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGATGCGCAGTGCCAGGCTC	0.746													G|||	1797	0.358826	0.1331	0.3242	5008	,	,		9816	0.5069		0.4632	False		,,,				2504	0.4284				p.L194L		.											.	OBSL1-71	0			c.C580T						.	G	,,	373,2241		59,255,993	2.0	3.0	3.0		580,580,580	2.9	1.0	2	dbSNP_86	3	2075,3541		472,1131,1205	no	coding-synonymous,coding-synonymous,coding-synonymous	OBSL1	NM_001173408.1,NM_001173431.1,NM_015311.2	,,	531,1386,2198	AA,AG,GG		36.948,14.2693,29.7448	,,	194/1026,194/1544,194/1897	220435375	2448,5782	1307	2808	4115	SO:0001819	synonymous_variant	23363	exon1			TGCGCAGTGCCAG	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.580C>T	2.37:g.220435375G>A		0	0		7	7	NM_001173431	0	0	0	0	0	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																			G|0.621;A|0.379		0.746	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
SLC4A3	6508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	220493241	220493241	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220493241G>T	ENST00000358055.3	+	3	678	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	SLC4A3_ENST00000317151.3_Missense_Mutation_p.A56S|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A56S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A56S|SLC4A3_ENST00000497589.1_3'UTR|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A56S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	56					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGCCCCCGGCCTGGGACCC	0.657																																					p.A56S		.											.	SLC4A3-157	0			c.G166T						.						38.0	42.0	41.0					2																	220493241		2203	4299	6502	SO:0001583	missense	6508	exon3			CCCCCGGCCTGGG		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.166G>T	2.37:g.220493241G>T	ENSP00000350756:p.Ala56Ser	316	0		467	161	NM_005070	0	0	0	0	0	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	2.342	-0.350805	0.05173	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.72167	-0.61;-0.61;-0.63;-0.63;-0.61	3.85	3.85	0.44370	.	0.508491	0.19817	N	0.105406	T	0.42607	0.1210	N	0.11313	0.125	0.22142	N	0.999339	B;B	0.13145	0.004;0.007	B;B	0.13407	0.002;0.009	T	0.33675	-0.9859	10	0.02654	T	1	.	6.7363	0.23411	0.0:0.1783:0.6054:0.2162	.	56;56	P48751;P48751-3	B3A3_HUMAN;.	S	56	ENSP00000350756:A56S;ENSP00000362865:A56S;ENSP00000273063:A56S;ENSP00000362867:A56S;ENSP00000314006:A56S	ENSP00000273063:A56S	A	+	1	0	SLC4A3	220201485	0.545000	0.26449	0.984000	0.44739	0.928000	0.56348	0.910000	0.28571	1.975000	0.57531	0.313000	0.20887	GCC	.		0.657	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070	
SCG2	7857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	224463929	224463929	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:224463929C>T	ENST00000305409.2	-	2	304	c.72G>A	c.(70-72)ggG>ggA	p.G24G		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTGCTTCAGCCCCAGAGATGA	0.438																																					p.G24G		.											.	SCG2-69	0			c.G72A						.						67.0	72.0	70.0					2																	224463929		2203	4300	6503	SO:0001819	synonymous_variant	7857	exon2			TTCAGCCCCAGAG	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.72G>A	2.37:g.224463929C>T		154	0		177	63	NM_003469	0	0	0	0	0	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																			.		0.438	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	228858308	228858308	+	Missense_Mutation	SNP	G	G	T	rs192502309	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228858308G>T	ENST00000392056.3	-	9	4709	c.4663C>A	c.(4663-4665)Ctt>Att	p.L1555I	SPHKAP_ENST00000344657.5_Intron	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1555						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATAATGCCAAGACTGCTAGTG	0.443													G|||	3	0.000599042	0.0008	0.0	5008	,	,		20188	0.0		0.002	False		,,,				2504	0.0				p.L1555I		.											.	SPHKAP-167	0			c.C4663A						.	G	ILE/LEU,	7,3129		0,7,1561	99.0	75.0	82.0		4663,	4.2	1.0	2		82	35,7129		0,35,3547	yes	missense,intron	SPHKAP	NM_001142644.1,NM_030623.3	5,	0,42,5108	TT,TG,GG		0.4886,0.2232,0.4078	probably-damaging,	1555/1701,	228858308	42,10258	1568	3582	5150	SO:0001583	missense	80309	exon9			TGCCAAGACTGCT		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4663C>A	2.37:g.228858308G>T	ENSP00000375909:p.Leu1555Ile	163	0		200	69	NM_001142644	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	20.5	4.002882	0.74932	0.002232	0.004886	ENSG00000153820	ENST00000392056	T	0.23147	1.92	6.06	4.22	0.49857	.	0.733784	0.10495	U	0.668020	T	0.33030	0.0849	M	0.78637	2.42	0.80722	D	1	B	0.29508	0.246	B	0.28305	0.088	T	0.04029	-1.0983	10	0.48119	T	0.1	.	11.1517	0.48462	0.0:0.1384:0.7173:0.1442	.	1555	Q2M3C7	SPKAP_HUMAN	I	1555	ENSP00000375909:L1555I	ENSP00000375909:L1555I	L	-	1	0	SPHKAP	228566552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.666000	0.54540	0.839000	0.34971	0.655000	0.94253	CTT	G|0.999;T|0.001		0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	228882596	228882596	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228882596C>A	ENST00000392056.3	-	7	3020	c.2974G>T	c.(2974-2976)Gtg>Ttg	p.V992L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V992L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	992						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTTTCCTCACAGCGGTCCCG	0.532																																					p.V992L		.											.	SPHKAP-167	0			c.G2974T						.						79.0	71.0	74.0					2																	228882596		2203	4300	6503	SO:0001583	missense	80309	exon7			TCCTCACAGCGGT		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2974G>T	2.37:g.228882596C>A	ENSP00000375909:p.Val992Leu	103	1		105	34	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	7.454	0.643221	0.14451	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13538	2.58;2.58	6.08	2.12	0.27331	.	0.507966	0.22716	N	0.056516	T	0.13543	0.0328	M	0.62723	1.935	0.26418	N	0.976147	B;B;B	0.33826	0.074;0.012;0.427	B;B;B	0.35510	0.043;0.006;0.204	T	0.12344	-1.0551	10	0.36615	T	0.2	.	5.9907	0.19460	0.25:0.5641:0.1206:0.0653	.	23;992;992	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	L	992	ENSP00000375909:V992L;ENSP00000339886:V992L	ENSP00000339886:V992L	V	-	1	0	SPHKAP	228590840	0.002000	0.14202	0.389000	0.26208	0.183000	0.23260	-0.013000	0.12678	0.459000	0.27016	-0.127000	0.14921	GTG	.		0.532	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	228883407	228883407	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228883407G>C	ENST00000392056.3	-	7	2209	c.2163C>G	c.(2161-2163)ttC>ttG	p.F721L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.F721L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	721						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCATCTTCTTGAACGTGAAGC	0.438																																					p.F721L		.											.	SPHKAP-167	0			c.C2163G						.						189.0	170.0	177.0					2																	228883407		2203	4300	6503	SO:0001583	missense	80309	exon7			CTTCTTGAACGTG		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2163C>G	2.37:g.228883407G>C	ENSP00000375909:p.Phe721Leu	97	0		118	37	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	2.022	-0.424561	0.04734	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11063	2.81;2.81	5.62	5.62	0.85841	.	0.507886	0.24165	N	0.040944	T	0.10723	0.0262	L	0.58101	1.795	0.29469	N	0.857168	B;B	0.15141	0.003;0.012	B;B	0.15484	0.002;0.013	T	0.36040	-0.9764	10	0.02654	T	1	.	12.3639	0.55219	0.0768:0.0:0.9232:0.0	.	721;721	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	L	721	ENSP00000375909:F721L;ENSP00000339886:F721L	ENSP00000339886:F721L	F	-	3	2	SPHKAP	228591651	1.000000	0.71417	0.871000	0.34182	0.991000	0.79684	0.721000	0.25911	2.805000	0.96524	0.655000	0.94253	TTC	.		0.438	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	228883709	228883709	+	Nonsense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228883709T>A	ENST00000392056.3	-	7	1907	c.1861A>T	c.(1861-1863)Aag>Tag	p.K621*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.K621*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	621						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAGCCTCCTTGAGCAATCCC	0.512																																					p.K621X		.											.	SPHKAP-167	0			c.A1861T						.						50.0	49.0	50.0					2																	228883709		2202	4300	6502	SO:0001587	stop_gained	80309	exon7			CCTCCTTGAGCAA		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1861A>T	2.37:g.228883709T>A	ENSP00000375909:p.Lys621*	140	0		157	57	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	38	6.728643	0.97792	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	5.84	3.39	0.38822	.	0.378699	0.32204	N	0.006433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2521	0.54603	0.0:0.0:0.2687:0.7313	.	.	.	.	X	621	.	ENSP00000339886:K621X	K	-	1	0	SPHKAP	228591953	1.000000	0.71417	0.990000	0.47175	0.892000	0.51952	3.713000	0.54882	0.427000	0.26145	0.533000	0.62120	AAG	.		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	228883760	228883760	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228883760C>G	ENST00000392056.3	-	7	1856	c.1810G>C	c.(1810-1812)Ggt>Cgt	p.G604R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G604R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	604						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTGCTAAACCACAAAGTGGG	0.542																																					p.G604R		.											.	SPHKAP-167	0			c.G1810C						.						38.0	37.0	37.0					2																	228883760		2203	4300	6503	SO:0001583	missense	80309	exon7			CTAAACCACAAAG		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1810G>C	2.37:g.228883760C>G	ENSP00000375909:p.Gly604Arg	111	0		102	38	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	7.049	0.564140	0.13498	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42513	0.97;0.97	5.63	-2.65	0.06095	.	0.403537	0.32819	N	0.005604	T	0.25082	0.0609	N	0.22421	0.69	0.09310	N	1	B;P	0.36282	0.437;0.546	B;B	0.35073	0.109;0.195	T	0.15464	-1.0436	10	0.62326	D	0.03	.	11.4306	0.50038	0.0:0.4799:0.0:0.5201	.	604;604	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	604	ENSP00000375909:G604R;ENSP00000339886:G604R	ENSP00000339886:G604R	G	-	1	0	SPHKAP	228592004	0.003000	0.15002	0.000000	0.03702	0.059000	0.15707	1.127000	0.31357	-0.766000	0.04639	-1.152000	0.01820	GGT	.		0.542	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	228884194	228884194	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228884194C>T	ENST00000392056.3	-	7	1422	c.1376G>A	c.(1375-1377)aGt>aAt	p.S459N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S459N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	459						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGCAGCATCACTGCCATCTGG	0.517																																					p.S459N		.											.	SPHKAP-167	0			c.G1376A						.						88.0	88.0	88.0					2																	228884194		2203	4300	6503	SO:0001583	missense	80309	exon7			GCATCACTGCCAT		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1376G>A	2.37:g.228884194C>T	ENSP00000375909:p.Ser459Asn	69	0		89	35	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	9.086	1.000603	0.19121	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13901	2.55;2.55	6.03	6.03	0.97812	.	0.281519	0.44483	D	0.000456	T	0.28067	0.0692	M	0.77616	2.38	0.09310	N	1	D;B	0.59767	0.986;0.061	P;B	0.53266	0.722;0.048	T	0.34625	-0.9821	10	0.56958	D	0.05	.	10.0031	0.41940	0.0:0.7884:0.1391:0.0724	.	459;459	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	N	459	ENSP00000375909:S459N;ENSP00000339886:S459N	ENSP00000339886:S459N	S	-	2	0	SPHKAP	228592438	0.013000	0.17824	0.078000	0.20375	0.403000	0.30841	1.078000	0.30754	2.861000	0.98227	0.655000	0.94253	AGT	.		0.517	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	228884765	228884765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:228884765C>A	ENST00000392056.3	-	7	851	c.805G>T	c.(805-807)Gaa>Taa	p.E269*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E269*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	269						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATTTGTCTTCCAAAGCATAA	0.398																																					p.E269X		.											.	SPHKAP-167	0			c.G805T						.						209.0	221.0	217.0					2																	228884765		2203	4300	6503	SO:0001587	stop_gained	80309	exon7			TGTCTTCCAAAGC		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.805G>T	2.37:g.228884765C>A	ENSP00000375909:p.Glu269*	95	0		109	34	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355779	0.82243	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	5.6	2.82	0.32997	.	0.730539	0.14395	N	0.322281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	8.2349	0.31620	0.0:0.7552:0.0:0.2448	.	.	.	.	X	269	.	ENSP00000339886:E269X	E	-	1	0	SPHKAP	228593009	0.949000	0.32298	0.882000	0.34594	0.772000	0.43724	1.910000	0.39927	0.721000	0.32231	0.650000	0.86243	GAA	.		0.398	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
PID1	55022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	229890643	229890643	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:229890643T>A	ENST00000354069.6	-	3	488	c.458A>T	c.(457-459)gAg>gTg	p.E153V	PID1_ENST00000392055.3_Missense_Mutation_p.E120V|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.E71V|PID1_ENST00000392054.3_Missense_Mutation_p.E151V			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	153	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CACTGTGGCCTCCCCTTTGTG	0.592																																					p.E151V		.											.	PID1-94	0			c.A452T						.						118.0	112.0	114.0					2																	229890643		2203	4300	6503	SO:0001583	missense	55022	exon4			GTGGCCTCCCCTT	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.458A>T	2.37:g.229890643T>A	ENSP00000283937:p.Glu153Val	219	0		254	80	NM_017933	0	0	0	0	0	B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37		.	.	.	.	.	.	.	.	.	.	T	19.84	3.901945	0.72754	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.55	5.55	0.83447	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	L	0.44542	1.39	0.58432	D	0.999999	P;P;B;B	0.35745	0.518;0.518;0.4;0.401	B;B;B;B	0.36418	0.224;0.224;0.131;0.076	T	0.48833	-0.9000	8	.	.	.	-33.0815	15.1768	0.72920	0.0:0.0:0.0:1.0	.	71;120;151;153	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	V	151;71;120;153;153	.	.	E	-	2	0	PID1	229598887	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	5.777000	0.68931	2.234000	0.73211	0.533000	0.62120	GAG	.		0.592	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933	
TRIP12	9320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	230723756	230723756	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:230723756C>G	ENST00000283943.5	-	3	811	c.633G>C	c.(631-633)tcG>tcC	p.S211S	TRIP12_ENST00000543084.1_Silent_p.S253S|TRIP12_ENST00000389044.4_Silent_p.S253S|TRIP12_ENST00000409677.1_Silent_p.S253S|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	211					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGGAGGAGGCCGAGGCTACAG	0.547																																					p.S211S		.											.	TRIP12-572	0			c.G633C						.						71.0	60.0	64.0					2																	230723756		2203	4300	6503	SO:0001819	synonymous_variant	9320	exon3			GGAGGCCGAGGCT	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.633G>C	2.37:g.230723756C>G		72	0		88	27	NM_004238	0	0	0	0	0	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	CCDS33391.1																																																																																			.		0.547	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
C2orf72	257407	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	231906104	231906104	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:231906104delC	ENST00000373640.4	+	2	804	c.728delC	c.(727-729)gccfs	p.A243fs	C2orf72_ENST00000477463.1_3'UTR	NM_001144994.1	NP_001138466.1	A6NCS6	CB072_HUMAN	chromosome 2 open reading frame 72	243																	GATGTTGCTGCCTGCAGAAGC	0.612																																					p.A243fs		.											.	.	0			c.728delC						.						47.0	54.0	52.0					2																	231906104		692	1591	2283	SO:0001589	frameshift_variant	257407	exon2			TTGCTGCCTGCAG		CCDS46539.1	2q37.1	2012-08-06			ENSG00000204128	ENSG00000204128			27418	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001144994		Approved	LOC257407	uc002vrl.4	A6NCS6	OTTHUMG00000153996	ENST00000373640.4:c.728delC	2.37:g.231906104delC	ENSP00000362743:p.Ala243fs	73	0		108	35	NM_001144994	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000373640.4	37	CCDS46539.1																																																																																			.		0.612	C2orf72-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333376.2	NM_001144994	
ALPP	250	bcgsc.ca	37	2	233245385	233245385	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:233245385G>C	ENST00000392027.2	+	8	1187	c.918G>C	c.(916-918)ctG>ctC	p.L306L	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	306					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		ACTCCACACTGGACCCCTCCC	0.642																																					p.L306L		.											.	ALPP-91	0			c.G918C						.						51.0	61.0	57.0					2																	233245385		2203	4296	6499	SO:0001819	synonymous_variant	250	exon8			CACACTGGACCCC	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.918G>C	2.37:g.233245385G>C		405	4		528	185	NM_001632	0	0	0	0	0	P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	CCDS2490.1																																																																																			.		0.642	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632	
ALPPL2	251	broad.mit.edu	37	2	233273466	233273466	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:233273466G>C	ENST00000295453.3	+	8	961	c.909G>C	c.(907-909)ctG>ctC	p.L303L		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	303					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	ACTCCACACTGGACCCCTCCC	0.632																																					p.L303L		.											.	ALPPL2-91	0			c.G909C						.						13.0	11.0	12.0					2																	233273466		2102	3901	6003	SO:0001819	synonymous_variant	251	exon8			CACACTGGACCCC	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.909G>C	2.37:g.233273466G>C		82	1		125	74	NM_031313	0	0	0	0	0	A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	CCDS2491.1																																																																																			.		0.632	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313	
ALPI	248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	233322794	233322794	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:233322794C>A	ENST00000295463.3	+	8	1020	c.943C>A	c.(943-945)Ctg>Atg	p.L315M		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	315					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGAGGCTGCCCTGCGCCTGCT	0.652																																					p.L315M		.											.	ALPI-90	0			c.C943A						.						68.0	75.0	73.0					2																	233322794		2203	4300	6503	SO:0001583	missense	248	exon8			GCTGCCCTGCGCC	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.943C>A	2.37:g.233322794C>A	ENSP00000295463:p.Leu315Met	339	1		505	180	NM_001631	0	0	0	0	0	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864125	0.32884	.	.	ENSG00000163295	ENST00000295463	D	0.97620	-4.46	4.46	-2.18	0.07037	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.367074	0.27253	N	0.020220	D	0.97297	0.9116	M	0.83312	2.635	0.23036	N	0.998392	P	0.48911	0.917	D	0.68039	0.955	D	0.92198	0.5765	10	0.87932	D	0	.	3.4805	0.07601	0.5589:0.2316:0.1091:0.1004	.	315	P09923	PPBI_HUMAN	M	315	ENSP00000295463:L315M	ENSP00000295463:L315M	L	+	1	2	ALPI	233031038	0.965000	0.33210	0.013000	0.15412	0.056000	0.15407	0.482000	0.22276	-0.200000	0.10300	0.561000	0.74099	CTG	.		0.652	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631	
SAG	6295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	234229340	234229340	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:234229340C>A	ENST00000409110.1	+	5	476	c.246C>A	c.(244-246)acC>acA	p.T82T	SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	82					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCGGCTTGACCTTCCGCAGGG	0.592																																					p.T82T		.											.	SAG-23	0			c.C246A						.						36.0	39.0	38.0					2																	234229340		2098	4251	6349	SO:0001819	synonymous_variant	6295	exon5			CTTGACCTTCCGC		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.246C>A	2.37:g.234229340C>A		118	0		149	55	NM_000541	0	0	0	0	0	A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	CCDS46545.1																																																																																			.		0.592	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541	
UGT1A5	54579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	234621950	234621950	+	Missense_Mutation	SNP	C	C	A	rs200200998		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:234621950C>A	ENST00000373414.3	+	1	313	c.313C>A	c.(313-315)Cat>Aat	p.H105N	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.H105N|UGT1A9_ENST00000354728.4_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	105						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGAAACAGAACATCTTCTGAT	0.403																																					p.H105N		.											.	UGT1A5-3	0			c.C313A						.						125.0	122.0	123.0					2																	234621950		2203	4300	6503	SO:0001583	missense	54579	exon1			ACAGAACATCTTC	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.313C>A	2.37:g.234621950C>A	ENSP00000362513:p.His105Asn	128	0		116	36	NM_019078	0	0	0	0	0	B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	C	4.901	0.167499	0.09339	.	.	ENSG00000240224	ENST00000373414	T	0.59083	0.29	4.87	-3.91	0.04168	.	0.598876	0.18106	N	0.151514	T	0.24890	0.0604	N	0.04297	-0.235	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.17979	0.02;0.02	T	0.15607	-1.0431	10	0.21540	T	0.41	.	5.3651	0.16109	0.2515:0.2893:0.0:0.4592	.	105;105	Q5DSZ9;P35504	.;UD15_HUMAN	N	105	ENSP00000362513:H105N	ENSP00000362513:H105N	H	+	1	0	UGT1A5	234286689	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.997000	0.00317	-0.567000	0.06046	-0.263000	0.10527	CAT	C|1.000;T|0.000		0.403	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078	
SH3BP4	23677	ucsc.edu;bcgsc.ca	37	2	235951205	235951205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:235951205G>T	ENST00000409212.1	+	4	2299	c.1792G>T	c.(1792-1794)Gag>Tag	p.E598*	SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.E598*|SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.E598*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	598					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGACGACCAGGAGGCCATCCT	0.572																																					p.E598X		.											.	SH3BP4-94	0			c.G1792T						.						61.0	61.0	61.0					2																	235951205		2203	4300	6503	SO:0001587	stop_gained	23677	exon4			GACCAGGAGGCCA	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1792G>T	2.37:g.235951205G>T	ENSP00000386862:p.Glu598*	147	2		159	57	NM_014521	0	0	0	0	0	O95082|Q309A3|Q53QD0|Q53TD1	Nonsense_Mutation	SNP	ENST00000409212.1	37	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	43	10.258404	0.99370	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	.	.	.	5.08	5.08	0.68730	.	0.252860	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-18.5127	17.0389	0.86483	0.0:0.0:1.0:0.0	.	.	.	.	X	598	.	ENSP00000340237:E598X	E	+	1	0	SH3BP4	235615944	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	9.458000	0.97634	2.354000	0.79902	0.655000	0.94253	GAG	.		0.572	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1		
COL6A3	1293	ucsc.edu;bcgsc.ca;mdanderson.org	37	2	238280884	238280884	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:238280884A>T	ENST00000295550.4	-	9	4228	c.3776T>A	c.(3775-3777)gTt>gAt	p.V1259D	COL6A3_ENST00000392003.2_Missense_Mutation_p.V852D|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1058D|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1053D|COL6A3_ENST00000392004.3_Missense_Mutation_p.V1053D|COL6A3_ENST00000472056.1_Missense_Mutation_p.V652D|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1059D|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1053D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1259	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGGTAGTCAACCAGCCTCTC	0.587																																					p.V1259D		.											.	COL6A3-526	0			c.T3776A						.						53.0	49.0	50.0					2																	238280884		2203	4300	6503	SO:0001583	missense	1293	exon9			TAGTCAACCAGCC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3776T>A	2.37:g.238280884A>T	ENSP00000295550:p.Val1259Asp	120	1		110	55	NM_004369	0	0	0	0	0	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541362	0.85917	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.58	5.58	0.84498	von Willebrand factor, type A (3);	0.283353	0.25011	N	0.033828	D	0.94282	0.8163	M	0.93328	3.405	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.996;1.0;0.999	D;D;D;D;D	0.80764	0.992;0.994;0.982;0.991;0.983	D	0.95587	0.8651	10	0.87932	D	0	.	15.7533	0.78005	1.0:0.0:0.0:0.0	.	652;852;1053;1053;1259	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	D	1259;1058;1053;652;1053;1059;1053;852	ENSP00000295550:V1259D;ENSP00000315609:V1058D;ENSP00000315873:V1053D;ENSP00000418285:V652D;ENSP00000386844:V1053D;ENSP00000295546:V1059D;ENSP00000375861:V1053D;ENSP00000375860:V852D	ENSP00000295550:V1259D	V	-	2	0	COL6A3	237945623	0.998000	0.40836	0.918000	0.36340	0.801000	0.45260	7.079000	0.76829	2.123000	0.65237	0.533000	0.62120	GTT	.		0.587	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
TRAF3IP1	26146	broad.mit.edu	37	2	239237714	239237715	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:239237714_239237715delGA	ENST00000373327.4	+	5	868_869	c.646_647delGA	c.(646-648)gagfs	p.E216fs	TRAF3IP1_ENST00000391993.3_Frame_Shift_Del_p.E216fs|TRAF3IP1_ENST00000391994.2_Frame_Shift_Del_p.E216fs	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	216	Abolishes microtubules-binding when missing.|Arg-rich.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		cagagaaggggagagagagaga	0.54																																					p.216_216del		.											.	TRAF3IP1-228	0			c.646_647del						.																																			SO:0001589	frameshift_variant	26146	exon5			GAAGGGGAGAGAG	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.646_647delGA	2.37:g.239237724_239237725delGA	ENSP00000362424:p.Glu216fs	198	0		249	7	NM_015650	0	0	0	0	0	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Frame_Shift_Del	DEL	ENST00000373327.4	37	CCDS33415.1																																																																																			.		0.540	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650	
NDUFA10	4705	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	240951052	240951052	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:240951052G>C	ENST00000252711.2	-	6	831	c.731C>G	c.(730-732)aCc>aGc	p.T244S	NDUFA10_ENST00000404554.1_Missense_Mutation_p.T244S|NDUFA10_ENST00000307300.4_Missense_Mutation_p.T274S	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	244					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AGGGAGAAAGGTTTTCTTATA	0.438																																					p.T244S		.											.	NDUFA10-514	0			c.C731G						.						159.0	148.0	152.0					2																	240951052		2203	4300	6503	SO:0001583	missense	4705	exon6			AGAAAGGTTTTCT	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.731C>G	2.37:g.240951052G>C	ENSP00000252711:p.Thr244Ser	125	1		92	31	NM_004544	0	0	0	0	0	Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	CCDS2531.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.240|5.240	0.229682|0.229682	0.09916|0.09916	.|.	.|.	ENSG00000130414|ENSG00000130414	ENST00000444548|ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000448880;ENST00000307300	.|D;D;D	.|0.94376	.|-3.41;-3.41;-3.41	4.37|4.37	3.49|3.49	0.39957|0.39957	.|.	.|0.106615	.|0.64402	.|D	.|0.000006	D|D	0.86083|0.86083	0.5848|0.5848	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B	.|0.23937	.|0.043;0.094	.|B;B	.|0.26310	.|0.041;0.068	T|T	0.78981|0.78981	-0.1989|-0.1989	5|10	.|0.20519	.|T	.|0.43	-34.5111|-34.5111	10.5619|10.5619	0.45150|0.45150	0.0969:0.0:0.9031:0.0|0.0969:0.0:0.9031:0.0	.|.	.|274;244	.|Q8WXC9;O95299	.|.;NDUAA_HUMAN	K|S	14|9;244;244;244;7;274	.|ENSP00000252711:T244S;ENSP00000385697:T244S;ENSP00000302321:T274S	.|ENSP00000252711:T244S	N|T	-|-	3|2	2|0	NDUFA10|NDUFA10	240599725|240599725	0.996000|0.996000	0.38824|0.38824	0.954000|0.954000	0.39281|0.39281	0.848000|0.848000	0.48234|0.48234	1.997000|1.997000	0.40786|0.40786	0.986000|0.986000	0.38683|0.38683	-0.137000|-0.137000	0.14449|0.14449	AAC|ACC	.		0.438	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544	
OTOS	150677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	241078654	241078654	+	Missense_Mutation	SNP	C	C	T	rs376456799		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:241078654C>T	ENST00000391989.2	-	5	433	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	MYEOV2_ENST00000607357.1_5'Flank|MYEOV2_ENST00000307266.3_5'Flank|OTOS_ENST00000319460.1_Missense_Mutation_p.R68Q			Q8NHW6	OTOSP_HUMAN	otospiralin	68					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)		p.R68Q(1)		endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AAAGAAGGTTCGGGCCATGTC	0.642																																					p.R68Q		.											.	OTOS-68	1	Substitution - Missense(1)	large_intestine(1)	c.G203A						.	C	GLN/ARG	0,4406	2.1+/-5.4	0,0,2203	73.0	74.0	74.0		203	3.5	1.0	2		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	OTOS	NM_148961.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	68/90	241078654	1,13005	2203	4300	6503	SO:0001583	missense	150677	exon4			AAGGTTCGGGCCA		CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.203G>A	2.37:g.241078654C>T	ENSP00000375849:p.Arg68Gln	227	0		229	31	NM_148961	0	0	0	0	0	Q53SW6	Missense_Mutation	SNP	ENST00000391989.2	37	CCDS2533.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477925	0.63849	0.0	1.16E-4	ENSG00000178602	ENST00000391989;ENST00000319460	T;T	0.62105	0.05;0.05	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	.	.	.	0.47511	D	0.999445	D	0.89917	1.0	D	0.79108	0.992	T	0.81156	-0.1061	9	0.87932	D	0	-15.6679	12.8596	0.57906	0.0:1.0:0.0:0.0	.	68	Q8NHW6	OTOSP_HUMAN	Q	68	ENSP00000375849:R68Q;ENSP00000322486:R68Q	ENSP00000322486:R68Q	R	-	2	0	OTOS	240727327	1.000000	0.71417	0.999000	0.59377	0.222000	0.24845	6.661000	0.74422	1.688000	0.51068	0.205000	0.17691	CGA	.		0.642	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257181.3	NM_148961	
KIF1A	547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	241658532	241658532	+	Missense_Mutation	SNP	C	C	A	rs369839651		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:241658532C>A	ENST00000320389.7	-	45	4960	c.4802G>T	c.(4801-4803)cGc>cTc	p.R1601L	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1702L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1601	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R1601P(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCATAGGGGCGCCGCACCAC	0.627																																					p.R1702L		.											.	KIF1A-91	1	Substitution - Missense(1)	lung(1)	c.G5105T						.						85.0	98.0	94.0					2																	241658532		2161	4271	6432	SO:0001583	missense	547	exon47			TAGGGGCGCCGCA	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4802G>T	2.37:g.241658532C>A	ENSP00000322791:p.Arg1601Leu	164	0		269	104	NM_001244008	0	0	0	0	0	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129242	0.94473	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.12774	2.65;2.65	4.06	4.06	0.47325	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	U	0.000000	T	0.36771	0.0979	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.23226	-1.0194	10	0.49607	T	0.09	.	16.24	0.82402	0.0:1.0:0.0:0.0	.	1702;1601	F5H045;Q12756	.;KIF1A_HUMAN	L	1601;1702;1710	ENSP00000322791:R1601L;ENSP00000438388:R1702L	ENSP00000322791:R1601L	R	-	2	0	KIF1A	241307205	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.508000	0.81686	1.818000	0.53035	0.467000	0.42956	CGC	.		0.627	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
KIF1A	547	hgsc.bcm.edu	37	2	241696843	241696843	+	Intron	SNP	C	C	A	rs537608637|rs10594016|rs533559120		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:241696843C>A	ENST00000320389.7	-	25	2714				KIF1A_ENST00000498729.2_Missense_Mutation_p.E917D	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		cctcctcatcctcctcctcct	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		8551	0.0		0.0	False		,,,				2504	0.0				p.E917D		.											.	KIF1A-91	0			c.G2751T						.																																			SO:0001627	intron_variant	547	exon27			CTCATCCTCCTCC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2555+933G>T	2.37:g.241696843C>A		225	0		291	13	NM_001244008	0	0	0	0	0	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.327	0.825706	0.16749	.	.	ENSG00000130294	ENST00000498729;ENST00000373308;ENST00000404283	T;T	0.73047	-0.63;-0.71	4.04	3.16	0.36331	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.27599	N	0.949023	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.21690	-1.0238	8	0.08381	T	0.77	.	12.6857	0.56946	0.1669:0.833:0.0:0.0	.	917;917	F5H045;Q12756-2	.;.	D	917	ENSP00000438388:E917D;ENSP00000384231:E917D	ENSP00000362405:E917D	E	-	3	2	KIF1A	241345516	0.997000	0.39634	0.999000	0.59377	0.888000	0.51559	0.203000	0.17315	0.685000	0.31468	-0.372000	0.07161	GAG	.		0.682	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
AGXT	189	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	241812461	241812461	+	Missense_Mutation	SNP	G	G	T	rs34664134	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:241812461G>T	ENST00000307503.3	+	5	977	c.590G>T	c.(589-591)cGg>cTg	p.R197L		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	197					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	TACATGGACCGGCAAGGTAAG	0.657																																					p.R197L		.											.	AGXT-90	0			c.G590T						.						71.0	69.0	70.0					2																	241812461		2203	4300	6503	SO:0001583	missense	189	exon5			TGGACCGGCAAGG	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.590G>T	2.37:g.241812461G>T	ENSP00000302620:p.Arg197Leu	107	0		141	46	NM_000030	0	0	0	0	0	Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916202	0.52546	.	.	ENSG00000172482	ENST00000307503	D	0.90788	-2.73	4.14	4.14	0.48551	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.536026	0.20684	N	0.087595	D	0.85961	0.5819	L	0.43923	1.385	0.19945	N	0.999949	B;B	0.23650	0.089;0.012	B;B	0.23018	0.043;0.018	T	0.76607	-0.2897	10	0.66056	D	0.02	-17.0156	9.2238	0.37393	0.9108:0.0:0.0892:0.0	.	197;197	B7Z548;P21549	.;SPYA_HUMAN	L	197	ENSP00000302620:R197L	ENSP00000302620:R197L	R	+	2	0	AGXT	241461134	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	3.540000	0.53611	0.471000	0.27319	-0.351000	0.07748	CGG	G|0.993;A|0.007		0.657	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030	
PASK	23178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	242066763	242066763	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:242066763C>A	ENST00000405260.1	-	10	2265	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	PASK_ENST00000539818.1_Nonsense_Mutation_p.E307*|PASK_ENST00000234040.4_Nonsense_Mutation_p.E523*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E337*|PASK_ENST00000358649.4_Nonsense_Mutation_p.E523*|PASK_ENST00000403638.3_Nonsense_Mutation_p.E523*	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	523					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCGGGGCTCTCTATTGCCACA	0.562																																					p.E523X		.											.	PASK-536	0			c.G1567T						.						122.0	128.0	126.0					2																	242066763		2203	4300	6503	SO:0001587	stop_gained	23178	exon10			GGCTCTCTATTGC	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1567G>T	2.37:g.242066763C>A	ENSP00000384016:p.Glu523*	87	0		106	41	NM_015148	0	0	0	0	0	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Nonsense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	43	10.372670	0.99393	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	.	.	.	4.97	4.07	0.47477	.	0.475456	0.18803	N	0.130728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	11.4484	0.50138	0.0:0.8173:0.1827:0.0	.	.	.	.	X	523;337;523;523;307;523	.	ENSP00000234040:E523X	E	-	1	0	PASK	241715436	0.000000	0.05858	0.703000	0.30354	0.018000	0.09664	0.009000	0.13219	1.194000	0.43101	0.561000	0.74099	GAG	.		0.562	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148	
HDLBP	3069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	242192402	242192402	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:242192402T>A	ENST00000391975.1	-	11	1569	c.1342A>T	c.(1342-1344)Agg>Tgg	p.R448W	HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000427183.2_Missense_Mutation_p.R415W|HDLBP_ENST00000391976.2_Missense_Mutation_p.R448W|HDLBP_ENST00000310931.4_Missense_Mutation_p.R448W	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	448	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATGAGGTGCCTGTGGAACTTG	0.572																																					p.R448W		.											.	HDLBP-290	0			c.A1342T						.						194.0	154.0	168.0					2																	242192402		2203	4300	6503	SO:0001583	missense	3069	exon11			GGTGCCTGTGGAA		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1342A>T	2.37:g.242192402T>A	ENSP00000375836:p.Arg448Trp	192	0		220	68	NM_005336	0	0	0	0	0	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.311504|4.311504	0.81358|0.81358	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.32753	.|1.44;1.44;1.44;1.44	5.49|5.49	4.32|4.32	0.51571|0.51571	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60766|0.60766	0.2294|0.2294	M|M	0.90309|0.90309	3.105|3.105	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.67461|0.67461	-0.5665|-0.5665	5|10	.|0.87932	.|D	.|0	-26.1744|-26.1744	11.4402|11.4402	0.50092|0.50092	0.0:0.0:0.3067:0.6933|0.0:0.0:0.3067:0.6933	.|.	.|415;448	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	L|W	256|448;448;448;415	.|ENSP00000375836:R448W;ENSP00000375837:R448W;ENSP00000312042:R448W;ENSP00000399139:R415W	.|ENSP00000312042:R448W	Q|R	-|-	2|1	0|2	HDLBP|HDLBP	241841075|241841075	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	2.395000|2.395000	0.44459|0.44459	0.996000|0.996000	0.38943|0.38943	0.533000|0.533000	0.62120|0.62120	CAG|AGG	.		0.572	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
ATG4B	23192	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	242606247	242606247	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:242606247G>T	ENST00000404914.3	+	8	829	c.726G>T	c.(724-726)acG>acT	p.T242T	ATG4B_ENST00000474739.2_Silent_p.T228T|ATG4B_ENST00000402096.1_Silent_p.T168T|ATG4B_ENST00000405546.3_Silent_p.T242T|ATG4B_ENST00000396411.3_Silent_p.T168T	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	242					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)	p.T242T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		ACGTGGAGACGCTGAAGGTGG	0.622																																					p.T242T	Melanoma(78;458 1323 6342 12171 39523)	.											.	.	1	Substitution - coding silent(1)	kidney(1)	c.G726T						.						24.0	26.0	25.0					2																	242606247		2132	4209	6341	SO:0001819	synonymous_variant	23192	exon8			GGAGACGCTGAAG	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.726G>T	2.37:g.242606247G>T		48	0		63	22	NM_178326	0	0	0	0	0	B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Silent	SNP	ENST00000404914.3	37	CCDS46564.1																																																																																			.		0.622	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325	
SIRPG	55423	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	1610940	1610940	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:1610940G>C	ENST00000303415.3	-	5	1158	c.1094C>G	c.(1093-1095)tCc>tGc	p.S365C	SIRPG_ENST00000381580.1_Missense_Mutation_p.S332C|SIRPG_ENST00000478145.2_5'UTR|SIRPG_ENST00000216927.4_Missense_Mutation_p.S254C|SIRPG_ENST00000381583.2_Missense_Mutation_p.S254C|SIRPG_ENST00000344103.4_Missense_Mutation_p.S148C	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	365					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CGCAGTAAGGGATGATGCCGG	0.582																																					p.S365C		.											.	SIRPG-23	0			c.C1094G						.						55.0	55.0	55.0					20																	1610940		2199	4298	6497	SO:0001583	missense	55423	exon5			GTAAGGGATGATG	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1094C>G	20.37:g.1610940G>C	ENSP00000305529:p.Ser365Cys	78	0		40	12	NM_018556	0	0	0	0	0	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	11.91	1.778814	0.31502	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.12147	3.12;4.41;2.71;5.04;5.04	2.25	1.16	0.20824	.	3.641900	0.01463	N	0.015977	T	0.16642	0.0400	N	0.14661	0.345	0.09310	N	1	D;D;B	0.61697	0.99;0.99;0.41	P;P;B	0.57548	0.476;0.823;0.146	T	0.14254	-1.0479	10	0.66056	D	0.02	.	3.938	0.09314	0.267:0.0:0.733:0.0	.	148;254;365	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	C	332;148;365;254;254	ENSP00000370992:S332C;ENSP00000342759:S148C;ENSP00000305529:S365C;ENSP00000370995:S254C;ENSP00000216927:S254C	ENSP00000216927:S254C	S	-	2	0	SIRPG	1558940	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.254000	0.08781	0.409000	0.25649	0.436000	0.28706	TCC	.		0.582	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556	
TGM6	343641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	2398147	2398147	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:2398147A>G	ENST00000202625.2	+	10	1667	c.1606A>G	c.(1606-1608)Atc>Gtc	p.I536V	TGM6_ENST00000381423.1_Missense_Mutation_p.I536V	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	536					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGGTGCCACCATCCTCTATAC	0.632																																					p.I536V		.											.	TGM6-94	0			c.A1606G						.						27.0	28.0	27.0					20																	2398147		2203	4300	6503	SO:0001583	missense	343641	exon10			GCCACCATCCTCT	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1606A>G	20.37:g.2398147A>G	ENSP00000202625:p.Ile536Val	26	0		40	11	NM_198994	0	0	0	0	0	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323299	0.60634	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.61158	0.13;0.13	4.93	4.93	0.64822	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.135026	0.51477	D	0.000088	T	0.54967	0.1891	M	0.70842	2.15	0.28956	N	0.89014	P;P	0.37612	0.547;0.602	B;B	0.37989	0.262;0.25	T	0.55490	-0.8133	10	0.27082	T	0.32	-31.9971	10.9086	0.47094	1.0:0.0:0.0:0.0	.	536;536	O95932-2;O95932	.;TGM3L_HUMAN	V	536	ENSP00000202625:I536V;ENSP00000370831:I536V	ENSP00000202625:I536V	I	+	1	0	TGM6	2346147	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.509000	0.53386	2.092000	0.63282	0.533000	0.62120	ATC	.		0.632	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994	
TMC2	117532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	2542507	2542507	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:2542507A>T	ENST00000358864.1	+	4	420	c.405A>T	c.(403-405)tcA>tcT	p.S135S		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	135	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTCCAGGTCATCCTCCTTGG	0.602																																					p.S135S		.											.	TMC2-93	0			c.A405T						.						76.0	69.0	71.0					20																	2542507		2203	4300	6503	SO:0001819	synonymous_variant	117532	exon4			CAGGTCATCCTCC	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.405A>T	20.37:g.2542507A>T		166	0		120	26	NM_080751	0	0	0	0	0	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	CCDS13029.2																																																																																			.		0.602	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
PTPRA	5786	broad.mit.edu	37	20	3008372	3008372	+	Missense_Mutation	SNP	C	C	G	rs138028158		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:3008372C>G	ENST00000216877.6	+	19	2178	c.1778C>G	c.(1777-1779)tCc>tGc	p.S593C	PTPRA_ENST00000380393.3_Missense_Mutation_p.S602C|PTPRA_ENST00000425918.2_Missense_Mutation_p.S613C|PTPRA_ENST00000399903.2_Missense_Mutation_p.S602C|PTPRA_ENST00000318266.5_Missense_Mutation_p.S593C|PTPRA_ENST00000358719.4_Missense_Mutation_p.S458C|PTPRA_ENST00000356147.3_Missense_Mutation_p.S593C	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	602	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGAAGGACTCCTATATCGCC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20358	0.0		0.001	False		,,,				2504	0.0				p.S602C		.											.	PTPRA-227	0			c.C1805G						.	C	CYS/SER,CYS/SER,CYS/SER	1,4405	2.1+/-5.4	0,1,2202	90.0	81.0	84.0		1805,1778,1778	5.6	1.0	20	dbSNP_134	84	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense	PTPRA	NM_002836.3,NM_080840.2,NM_080841.2	112,112,112	0,7,6496	GG,GC,CC		0.0698,0.0227,0.0538	probably-damaging,probably-damaging,probably-damaging	602/803,593/794,593/794	3008372	7,12999	2203	4300	6503	SO:0001583	missense	5786	exon24			AGGACTCCTATAT		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1778C>G	20.37:g.3008372C>G	ENSP00000216877:p.Ser593Cys	88	0		98	4	NM_002836	0	0	0	0	0	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	29.2	4.986657	0.93106	2.27E-4	6.98E-4	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.58	5.58	0.84498	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.066104	0.64402	U	0.000006	D	0.88592	0.6478	L	0.33293	1	0.80722	D	1	P;D;D	0.76494	0.49;0.999;0.98	B;D;P	0.64776	0.195;0.929;0.871	D	0.89383	0.3683	10	0.66056	D	0.02	.	19.5689	0.95404	0.0:1.0:0.0:0.0	.	613;602;593	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	C	602;593;602;458;212;613;593;593	ENSP00000369756:S602C;ENSP00000216877:S593C;ENSP00000382787:S602C;ENSP00000351559:S458C;ENSP00000393553:S613C;ENSP00000314568:S593C;ENSP00000348468:S593C	ENSP00000216877:S593C	S	+	2	0	PTPRA	2956372	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.965000	0.70387	2.626000	0.88956	0.655000	0.94253	TCC	C|0.999;G|0.001		0.517	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3		
SLC4A11	83959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	3218585	3218585	+	5'Flank	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:3218585A>T	ENST00000380056.3	-	0	0				SLC4A11_ENST00000539553.2_Intron|SLC4A11_ENST00000380059.3_Silent_p.A42A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11						bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCCCCGCTGCAGCGAGAGGAA	0.612																																					p.A42A	NSCLC(190;922 2139 10266 10292 38692)	.											.	SLC4A11-91	0			c.T126A						.																																			SO:0001631	upstream_gene_variant	83959	exon1			CGCTGCAGCGAGA	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740		20.37:g.3218585A>T	Exception_encountered	88	0		54	17	NM_001174090	0	0	0	0	0	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																			.		0.612	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1		
ATRN	8455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	3624815	3624815	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:3624815C>T	ENST00000262919.5	+	28	4133	c.4065C>T	c.(4063-4065)ccC>ccT	p.P1355P		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1355					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCCCAAACCCATTGCACTGG	0.483																																					p.P1355P		.											.	ATRN-154	0			c.C4065T						.						129.0	111.0	117.0					20																	3624815		2203	4300	6503	SO:0001819	synonymous_variant	8455	exon28			CAAACCCATTGCA	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.4065C>T	20.37:g.3624815C>T		127	0		78	25	NM_139321	0	0	0	0	0	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	ENST00000262919.5	37	CCDS13053.1																																																																																			.		0.483	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	
PROKR2	128674	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	5283022	5283022	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:5283022C>A	ENST00000217270.3	-	2	818	c.819G>T	c.(817-819)acG>acT	p.T273T	PROKR2_ENST00000546004.1_Silent_p.T273T	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	273					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GCACCAGGACCGTCTTCCTGC	0.597										HNSCC(71;0.22)																											p.T273T		.											.	PROKR2-94	0			c.G819T						.						74.0	61.0	65.0					20																	5283022		2203	4300	6503	SO:0001819	synonymous_variant	128674	exon2			CAGGACCGTCTTC	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.819G>T	20.37:g.5283022C>A		167	0		132	42	NM_144773	0	0	0	0	0	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	CCDS13089.1																																																																																			.		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
CHGB	1114	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	5903995	5903995	+	Missense_Mutation	SNP	G	G	T	rs200027232		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:5903995G>T	ENST00000378961.4	+	4	1409	c.1205G>T	c.(1204-1206)gGt>gTt	p.G402V		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	402						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CATGGATATGGTGAAGAAAGT	0.537																																					p.G402V		.											.	CHGB-96	0			c.G1205T						.						102.0	101.0	101.0					20																	5903995		2203	4300	6503	SO:0001583	missense	1114	exon4			GATATGGTGAAGA		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1205G>T	20.37:g.5903995G>T	ENSP00000368244:p.Gly402Val	51	0		21	5	NM_001819	0	0	0	0	0	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	9.451	1.090613	0.20471	.	.	ENSG00000089199	ENST00000378961	T	0.01725	4.67	5.66	1.14	0.20703	.	0.820525	0.11384	N	0.569564	T	0.02455	0.0075	L	0.39898	1.24	0.09310	N	0.999997	P	0.44946	0.846	P	0.46629	0.522	T	0.47799	-0.9089	10	0.49607	T	0.09	-0.0026	4.6782	0.12722	0.3551:0.0:0.5072:0.1377	.	402	P05060	SCG1_HUMAN	V	402	ENSP00000368244:G402V	ENSP00000368244:G402V	G	+	2	0	CHGB	5851995	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.004000	0.13106	0.228000	0.21019	-0.345000	0.07892	GGT	G|0.999;A|0.001		0.537	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
HAO1	54363	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	7875859	7875859	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:7875859C>A	ENST00000378789.3	-	5	785	c.734G>T	c.(733-735)aGg>aTg	p.R245M		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	245	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AACAGCCTCCCTGGCATCATC	0.502																																					p.R245M		.											.	HAO1-93	0			c.G734T						.						116.0	106.0	110.0					20																	7875859		2203	4300	6503	SO:0001583	missense	54363	exon5			GCCTCCCTGGCAT	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.734G>T	20.37:g.7875859C>A	ENSP00000368066:p.Arg245Met	88	0		68	17	NM_017545	0	0	0	0	0	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153976	0.38021	.	.	ENSG00000101323	ENST00000378789	T	0.32988	1.43	5.97	-4.71	0.03279	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.698276	0.15826	N	0.242725	T	0.28433	0.0703	M	0.71871	2.18	0.09310	N	0.999998	B;B	0.10296	0.003;0.003	B;B	0.19666	0.026;0.026	T	0.20907	-1.0261	10	0.49607	T	0.09	-2.5709	10.1596	0.42844	0.0969:0.2962:0.0:0.6069	.	245;245	A8K058;Q9UJM8	.;HAOX1_HUMAN	M	245	ENSP00000368066:R245M	ENSP00000368066:R245M	R	-	2	0	HAO1	7823859	0.000000	0.05858	0.445000	0.26908	0.957000	0.61999	-0.895000	0.04118	-1.308000	0.02318	-0.126000	0.14955	AGG	.		0.502	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2		
PLCB1	23236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	8770166	8770166	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:8770166G>T	ENST00000338037.6	+	30	3307	c.3280G>T	c.(3280-3282)Gag>Tag	p.E1094*	PLCB1_ENST00000378637.2_Splice_Site_p.E1094*|PLCB1_ENST00000378641.3_Splice_Site_p.E1094*	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1094					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCTTTTAGGGAGAAGACAGA	0.393																																					p.G1094C		.											.	PLCB1-297	0			c.G3280T						.						209.0	185.0	193.0					20																	8770166		2203	4300	6503	SO:0001630	splice_region_variant	23236	exon30			TTTAGGGAGAAGA	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3279-1G>T	20.37:g.8770166G>T		155	0		91	35	NM_015192	0	0	0	0	0	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	46	12.759876	0.99694	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	.	.	.	5.73	5.73	0.89815	.	0.104140	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	X	1094;1094;1094;1014;1014	.	ENSP00000338185:E1094X	E	+	1	0	PLCB1	8718166	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.184000	0.94893	2.861000	0.98227	0.655000	0.94253	GAG	.		0.393	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		Nonsense_Mutation
PLCB4	5332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	9417684	9417684	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:9417684A>G	ENST00000378493.1	+	26	2628	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	PLCB4_ENST00000378501.2_Silent_p.K871K|PLCB4_ENST00000378473.3_Silent_p.K883K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.K871K|PLCB4_ENST00000334005.3_Silent_p.K871K|PLCB4_ENST00000414679.2_Silent_p.K883K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	871					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACACTTCCAAAAATGACAAGA	0.488																																					p.K883K		.											.	PLCB4-274	0			c.A2649G						.						84.0	72.0	76.0					20																	9417684		2203	4300	6503	SO:0001819	synonymous_variant	5332	exon29			TTCCAAAAATGAC		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2613A>G	20.37:g.9417684A>G		133	0		85	24	NM_001172646	0	0	0	0	0	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	CCDS13105.1																																																																																			.		0.488	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
PAK7	57144	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	9543657	9543657	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:9543657C>A	ENST00000378429.3	-	7	2043	c.1497G>T	c.(1495-1497)cgG>cgT	p.R499R	PAK7_ENST00000378423.1_Silent_p.R499R|PAK7_ENST00000353224.5_Silent_p.R499R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	499	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGTGGTAATCCCGCATGATCA	0.458																																					p.R499R		.											.	PAK7-1434	0			c.G1497T						.						183.0	166.0	171.0					20																	9543657		2203	4300	6503	SO:0001819	synonymous_variant	57144	exon6			GTAATCCCGCATG	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1497G>T	20.37:g.9543657C>A		124	1		107	32	NM_177990	0	0	0	0	0	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	CCDS13107.1																																																																																			.		0.458	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
ESF1	51575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	13752040	13752040	+	Missense_Mutation	SNP	C	C	T	rs376170071		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:13752040C>T	ENST00000202816.1	-	6	1447	c.1340G>A	c.(1339-1341)aGt>aAt	p.S447N		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATAAATTTTACTAGCTGTTTC	0.343																																					p.S447N		.											.	ESF1-91	0			c.G1340A						.						140.0	150.0	146.0					20																	13752040		2203	4297	6500	SO:0001583	missense	51575	exon6			ATTTTACTAGCTG		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1340G>A	20.37:g.13752040C>T	ENSP00000202816:p.Ser447Asn	90	0		71	14	NM_001276380	0	0	0	0	0	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	2.108	-0.404495	0.04832	.	.	ENSG00000089048	ENST00000202816	T	0.39787	1.06	5.33	3.35	0.38373	.	0.551778	0.22166	N	0.063710	T	0.15003	0.0362	N	0.04148	-0.265	0.30259	N	0.793325	P	0.36282	0.546	B	0.32980	0.156	T	0.17745	-1.0359	10	0.08179	T	0.78	0.6564	5.7425	0.18102	0.0:0.4794:0.3519:0.1687	.	447	Q9H501	ESF1_HUMAN	N	447	ENSP00000202816:S447N	ENSP00000202816:S447N	S	-	2	0	ESF1	13700040	0.950000	0.32346	0.935000	0.37517	0.995000	0.86356	1.049000	0.30392	0.698000	0.31739	0.655000	0.94253	AGT	.		0.343	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649	
RRBP1	6238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	17617312	17617312	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:17617312C>A	ENST00000377813.1	-	6	2550	c.2247G>T	c.(2245-2247)gtG>gtT	p.V749V	RRBP1_ENST00000246043.4_Silent_p.V749V|RRBP1_ENST00000377807.2_Silent_p.V316V|RRBP1_ENST00000360807.4_Silent_p.V316V|RRBP1_ENST00000455029.2_Silent_p.V90V			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	749					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCTCCCGGGCCACCAGCTGCT	0.627																																					p.V316V		.											.	RRBP1-92	0			c.G948T						.						81.0	78.0	79.0					20																	17617312		2203	4300	6503	SO:0001819	synonymous_variant	6238	exon6			CCGGGCCACCAGC	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2247G>T	20.37:g.17617312C>A		89	0		81	20	NM_004587	0	0	0	0	0	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37																																																																																				.		0.627	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576	
DZANK1	55184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	18434400	18434400	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:18434400C>A	ENST00000358866.6	-	4	472	c.450G>T	c.(448-450)tgG>tgT	p.W150C	DZANK1_ENST00000357236.4_5'UTR|DZANK1_ENST00000329494.5_Missense_Mutation_p.W152C|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Missense_Mutation_p.W150C			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	150							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GGTTAACATTCCAGCTGCGTT	0.358																																					p.W150C		.											.	.	0			c.G450T						.						157.0	147.0	150.0					20																	18434400		1844	4088	5932	SO:0001583	missense	55184	exon5			AACATTCCAGCTG	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.450G>T	20.37:g.18434400C>A	ENSP00000351734:p.Trp150Cys	73	0		48	11	NM_001099407	0	0	0	0	0	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	C	1.700	-0.501764	0.04261	.	.	ENSG00000089091	ENST00000262547;ENST00000329494	T;T	0.64260	-0.09;0.58	5.31	3.07	0.35406	.	0.835035	0.10638	U	0.651354	T	0.56920	0.2018	M	0.62723	1.935	0.80722	D	1	B;B	0.14012	0.009;0.002	B;B	0.11329	0.006;0.003	T	0.54951	-0.8216	10	0.39692	T	0.17	-0.2683	7.4697	0.27342	0.3978:0.4553:0.147:0.0	.	150;150	B7Z631;Q9NVP4	.;DZAN1_HUMAN	C	150;152	ENSP00000262547:W150C;ENSP00000328866:W152C	ENSP00000262547:W150C	W	-	3	0	C20orf12	18382400	0.993000	0.37304	0.999000	0.59377	0.073000	0.16967	0.680000	0.25306	1.361000	0.45981	-0.181000	0.13052	TGG	.		0.358	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	
C20orf78	100128496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	18790706	18790706	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:18790706T>A	ENST00000278779.4	-	3	271	c.170A>T	c.(169-171)gAa>gTa	p.E57V	C20orf78_ENST00000463425.1_5'UTR	NM_001242671.1	NP_001229600.1	Q9BR46	CT078_HUMAN	chromosome 20 open reading frame 78	57										central_nervous_system(1)	1						gctgctgtcttctgaggatgt	0.517																																					p.E57V		.											.	C20orf78-71	0			c.A170T						.																																			SO:0001583	missense	100128496	exon3			CTGTCTTCTGAGG	AL035563	CCDS56181.1	20p11.23	2011-10-07			ENSG00000149443	ENSG00000149443			16210	protein-coding gene	gene with protein product						11780052	Standard	NM_001242671		Approved	dJ1068E13.1	uc002wrj.2	Q9BR46	OTTHUMG00000031982	ENST00000278779.4:c.170A>T	20.37:g.18790706T>A	ENSP00000278779:p.Glu57Val	164	0		103	31	NM_001242671	0	0	0	0	0		Missense_Mutation	SNP	ENST00000278779.4	37	CCDS56181.1	.	.	.	.	.	.	.	.	.	.	T	1.112	-0.657806	0.03454	.	.	ENSG00000149443	ENST00000278779	.	.	.	0.62	0.62	0.17637	.	.	.	.	.	T	0.20007	0.0481	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.25641	-1.0126	5	0.87932	D	0	.	.	.	.	.	.	.	.	V	57	.	ENSP00000278779:E57V	E	-	2	0	C20orf78	18738706	0.204000	0.23447	0.016000	0.15963	0.113000	0.19764	0.582000	0.23834	0.484000	0.27630	0.172000	0.16884	GAA	.		0.517	C20orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078191.2	NM_178462	
RALGAPA2	57186	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	20501596	20501596	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:20501596G>A	ENST00000202677.7	-	31	4056	c.4049C>T	c.(4048-4050)tCa>tTa	p.S1350L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1350					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAATTCTGCTGATGAATGATA	0.468																																					p.S1350L		.											.	RALGAPA2-24	0			c.C4049T						.						94.0	90.0	91.0					20																	20501596		1910	4129	6039	SO:0001583	missense	57186	exon31			TCTGCTGATGAAT	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4049C>T	20.37:g.20501596G>A	ENSP00000202677:p.Ser1350Leu	130	0		95	24	NM_020343	0	0	0	0	0	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.97|12.97	2.098726|2.098726	0.37048|0.37048	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|T	.|0.27402	.|1.67	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.480260	.|0.22055	.|N	.|0.065260	.|T	.|0.35307	.|0.0927	M|M	0.65498|0.65498	2.005|2.005	0.36151|0.36151	D|D	0.847444|0.847444	.|B;P;B	.|0.38827	.|0.116;0.649;0.013	.|B;B;B	.|0.29716	.|0.062;0.106;0.011	.|T	.|0.47861	.|-0.9084	.|10	.|0.62326	.|D	.|0.03	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1188;1350;1350	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	X|L	1167|1350	.|ENSP00000202677:S1350L	.|ENSP00000202677:S1350L	Q|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20449596|20449596	0.923000|0.923000	0.31300|0.31300	1.000000|1.000000	0.80357|0.80357	0.124000|0.124000	0.20399|0.20399	3.022000|3.022000	0.49659|0.49659	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA	.		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
FOXA2	3170	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	22563160	22563160	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:22563160G>A	ENST00000377115.4	-	3	883	c.702C>T	c.(700-702)acC>acT	p.T234T	FOXA2_ENST00000419308.2_Silent_p.T240T	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	234					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CAGGGTGCAGGGTCCAGAAGG	0.642																																					p.T240T		.											.	FOXA2-228	0			c.C720T						.						27.0	30.0	29.0					20																	22563160		2203	4300	6503	SO:0001819	synonymous_variant	3170	exon2			GTGCAGGGTCCAG	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.702C>T	20.37:g.22563160G>A		101	0		88	48	NM_021784	0	0	0	0	0	Q8WUW4|Q96DF7	Silent	SNP	ENST00000377115.4	37	CCDS13147.1																																																																																			.		0.642	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1		
CD93	22918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	23065618	23065618	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:23065618A>G	ENST00000246006.4	-	1	1359	c.1212T>C	c.(1210-1212)gaT>gaC	p.D404D		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	404	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAAATGAGCCATCTGTGTTGG	0.667																																					p.D404D		.											.	CD93-153	0			c.T1212C						.						46.0	44.0	45.0					20																	23065618		2203	4300	6503	SO:0001819	synonymous_variant	22918	exon1			TGAGCCATCTGTG	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1212T>C	20.37:g.23065618A>G		237	0		224	101	NM_012072	0	0	0	0	0	O00274	Silent	SNP	ENST00000246006.4	37	CCDS13149.1																																																																																			.		0.667	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
CST8	10047	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	23472348	23472348	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:23472348C>T	ENST00000246012.1	+	2	401	c.44C>T	c.(43-45)cCc>cTc	p.P15L		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	15					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTCACCATTCCCCTGGCCCTG	0.572																																					p.P15L		.											.	CST8-90	0			c.C44T						.						112.0	108.0	109.0					20																	23472348		2203	4300	6503	SO:0001583	missense	10047	exon2			CCATTCCCCTGGC	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.44C>T	20.37:g.23472348C>T	ENSP00000246012:p.Pro15Leu	121	1		147	73	NM_005492	0	0	0	0	0	Q2M2X6	Missense_Mutation	SNP	ENST00000246012.1	37	CCDS13156.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.309091	0.01342	.	.	ENSG00000125815	ENST00000449810;ENST00000246012	T;T	0.09445	2.98;3.25	3.99	-0.672	0.11377	.	1.171370	0.06067	N	0.659432	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42632	-0.9440	10	0.10902	T	0.67	-0.14	3.0295	0.06102	0.1994:0.2326:0.0:0.568	.	15	O60676	CST8_HUMAN	L	15	ENSP00000399144:P15L;ENSP00000246012:P15L	ENSP00000246012:P15L	P	+	2	0	CST8	23420348	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.305000	0.08188	-0.117000	0.11872	0.655000	0.94253	CCC	.		0.572	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1		
CST8	10047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	23472361	23472361	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:23472361G>T	ENST00000246012.1	+	2	414	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	19					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGGCCCTGGTGGCCAGGAAAG	0.562																																					p.V19V		.											.	CST8-90	0			c.G57T						.						109.0	108.0	108.0					20																	23472361		2203	4300	6503	SO:0001819	synonymous_variant	10047	exon2			CCTGGTGGCCAGG	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.57G>T	20.37:g.23472361G>T		129	0		164	43	NM_005492	0	0	0	0	0	Q2M2X6	Silent	SNP	ENST00000246012.1	37	CCDS13156.1																																																																																			.		0.562	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1		
CST9	128822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	23584212	23584212	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:23584212A>G	ENST00000376971.3	-	2	426	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	139						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CACCCCATGCAGCATCCACAG	0.542																																					p.C139R		.											.	CST9-91	0			c.T415C						.						157.0	123.0	135.0					20																	23584212		2203	4300	6503	SO:0001583	missense	128822	exon2			CCATGCAGCATCC	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.415T>C	20.37:g.23584212A>G	ENSP00000366170:p.Cys139Arg	231	0		216	45	NM_001008693	0	0	0	0	0	B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	A	3.851	-0.031877	0.07543	.	.	ENSG00000173335	ENST00000376971	D	0.99884	-7.49	2.38	-4.1	0.03940	.	2.481150	0.01906	N	0.039508	D	0.98676	0.9556	N	0.08118	0	0.09310	N	1	B	0.24920	0.114	B	0.27076	0.076	D	0.99998	1.6367	10	0.52906	T	0.07	.	0.323	0.00306	0.2943:0.1923:0.1347:0.3787	.	139	Q5W186	CST9_HUMAN	R	139	ENSP00000366170:C139R	ENSP00000366170:C139R	C	-	1	0	CST9	23532212	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.201000	0.09464	-1.024000	0.03338	0.454000	0.30748	TGC	.		0.542	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1	
FRG1B	284802	bcgsc.ca	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																					.		.											.	FRG1B-22	4	Substitution - coding silent(4)	urinary_tract(2)|kidney(2)	.						.																																			SO:0001819	synonymous_variant	284802	.			AGCAGGGGACATA			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.285G>C	20.37:g.29628283G>C		584	5		530	14	.	0	0	0	0	0	C4AME5	RNA	SNP	ENST00000278882.3	37																																																																																				.		0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
BCL2L1	598	broad.mit.edu;bcgsc.ca	37	20	30309465	30309465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:30309465delC	ENST00000307677.4	-	2	967	c.557delG	c.(556-558)ggcfs	p.G187fs	BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.G187fs|BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.G187fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	187					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TACCCAGCCGCCGTTCTCCTG	0.527																																					p.G186fs	Colon(51;693 1004 1401 20431 21026)	.											.	BCL2L1-1084	0			c.557delG						.						94.0	91.0	92.0					20																	30309465		2203	4300	6503	SO:0001589	frameshift_variant	598	exon2			CAGCCGCCGTTCT	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.557delG	20.37:g.30309465delC	ENSP00000302564:p.Gly187fs	82	0		77	11	NM_138578	0	0	0	0	0	E1P5L6|Q5CZ89|Q5TE65|Q92976	Frame_Shift_Del	DEL	ENST00000307677.4	37	CCDS13189.1																																																																																			.		0.527	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578	
BPIFB6	128859	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	31631832	31631832	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:31631832G>T	ENST00000349552.1	+	15	1341	c.1341G>T	c.(1339-1341)atG>atT	p.M447I		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	447						extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATGCCCTGATGCTGGACTTGA	0.597																																					p.M447I		.											.	.	0			c.G1341T						.						207.0	177.0	187.0					20																	31631832		2203	4300	6503	SO:0001583	missense	128859	exon15			CCTGATGCTGGAC	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1341G>T	20.37:g.31631832G>T	ENSP00000344929:p.Met447Ile	88	0		88	17	NM_174897	0	0	0	0	0		Missense_Mutation	SNP	ENST00000349552.1	37	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485167	0.26598	.	.	ENSG00000167104	ENST00000349552	T	0.06294	3.32	4.92	1.72	0.24424	.	0.435513	0.19015	N	0.124978	T	0.03305	0.0096	N	0.08118	0	0.24437	N	0.994541	B	0.17465	0.022	B	0.13407	0.009	T	0.39165	-0.9627	10	0.56958	D	0.05	.	7.2447	0.26115	0.0904:0.325:0.5846:0.0	.	447	Q8NFQ5	BPIB6_HUMAN	I	447	ENSP00000344929:M447I	ENSP00000344929:M447I	M	+	3	0	BPIFB6	31095493	0.974000	0.33945	0.991000	0.47740	0.542000	0.35054	0.449000	0.21744	0.301000	0.22738	0.655000	0.94253	ATG	.		0.597	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897	
CDK5RAP1	51654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	31967333	31967333	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:31967333G>C	ENST00000357886.4	-	9	1236	c.1083C>G	c.(1081-1083)gtC>gtG	p.V361V	CDK5RAP1_ENST00000473997.1_Silent_p.V257V|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Silent_p.V347V|CDK5RAP1_ENST00000346416.2_Silent_p.V347V			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	361					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTACTCTGGAGACCTGATCCA	0.468																																					p.V347V		.											.	CDK5RAP1-230	0			c.C1041G						.						96.0	98.0	97.0					20																	31967333		2203	4300	6503	SO:0001819	synonymous_variant	51654	exon8			TCTGGAGACCTGA	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1083C>G	20.37:g.31967333G>C		143	0		131	17	NM_016408	0	0	0	0	0	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	37																																																																																				.		0.468	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408	
PIGU	128869	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	33169461	33169461	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:33169461G>T	ENST00000374820.2	-	9	902	c.882C>A	c.(880-882)ttC>ttA	p.F294L	PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Missense_Mutation_p.F314L			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	314					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						TAAACATGAAGAAGATGGGGT	0.562																																					p.F314L		.											.	PIGU-226	0			c.C942A						.						66.0	48.0	54.0					20																	33169461		2203	4300	6503	SO:0001583	missense	128869	exon10			CATGAAGAAGATG	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.882C>A	20.37:g.33169461G>T	ENSP00000363953:p.Phe294Leu	133	0		134	9	NM_080476	0	0	0	0	0	Q7Z489|Q8N2F2	Missense_Mutation	SNP	ENST00000374820.2	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.972884	0.74246	.	.	ENSG00000101464	ENST00000217446;ENST00000374820;ENST00000452740;ENST00000438215	.	.	.	6.04	5.1	0.69264	.	0.050677	0.85682	D	0.000000	T	0.52964	0.1767	L	0.39467	1.215	0.80722	D	1	P;B;B	0.38617	0.64;0.356;0.409	B;B;B	0.42386	0.386;0.197;0.298	T	0.47381	-0.9122	9	0.21014	T	0.42	-21.7929	15.3229	0.74135	0.0666:0.0:0.9334:0.0	.	314;294;314	E7EVL4;Q9H490-2;Q9H490	.;.;PIGU_HUMAN	L	314;294;314;60	.	ENSP00000217446:F314L	F	-	3	2	PIGU	32633122	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.570000	0.67398	1.573000	0.49748	0.563000	0.77884	TTC	.		0.562	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476	
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																					p.Q269Q		.											.	NCOA6-292	15	Substitution - coding silent(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	c.G807A						.						64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054	exon7			CTGCTGCTGTTGT	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T		75	1		88	3	NM_014071	0	0	0	0	0	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																			.		0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
ACSS2	55902	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	33508448	33508448	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:33508448G>T	ENST00000360596.2	+	9	1290	c.1079G>T	c.(1078-1080)gGt>gTt	p.G360V	ACSS2_ENST00000336325.4_Missense_Mutation_p.G310V|ACSS2_ENST00000253382.5_Missense_Mutation_p.G373V|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	360					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCAGACATTGGTTGGATCACT	0.537																																					p.G373V		.											.	ACSS2-226	0			c.G1118T						.						203.0	156.0	172.0					20																	33508448		2203	4300	6503	SO:0001583	missense	55902	exon10			ACATTGGTTGGAT	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1079G>T	20.37:g.33508448G>T	ENSP00000353804:p.Gly360Val	124	0		105	42	NM_001076552	0	0	0	0	0	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478374	0.84747	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.41065	1.01;1.01;1.01	5.19	5.19	0.71726	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86894	0.2050	10	0.87932	D	0	-10.6635	18.898	0.92432	0.0:0.0:1.0:0.0	.	373;360	Q5QPH3;Q9NR19	.;ACSA_HUMAN	V	310;360;358;68;373	ENSP00000337190:G310V;ENSP00000353804:G360V;ENSP00000253382:G373V	ENSP00000253382:G373V	G	+	2	0	ACSS2	32972109	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.657000	0.98554	2.704000	0.92352	0.561000	0.74099	GGT	.		0.537	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677	
CEP250	11190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	34090551	34090551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:34090551G>T	ENST00000397527.1	+	30	5074	c.4354G>T	c.(4354-4356)Gaa>Taa	p.E1452*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.E1396*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1452	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAGCAACGGGAAATGCAGAA	0.512																																					p.E1452X		.											.	CEP250-27	0			c.G4354T						.						55.0	60.0	59.0					20																	34090551		2203	4300	6503	SO:0001587	stop_gained	11190	exon30			CAACGGGAAATGC	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4354G>T	20.37:g.34090551G>T	ENSP00000380661:p.Glu1452*	194	0		149	77	NM_007186	0	0	0	0	0	E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	46	12.862680	0.99702	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	.	.	.	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	10.6405	0.45590	0.0897:0.0:0.9103:0.0	.	.	.	.	X	1452;1396	.	ENSP00000341541:E1396X	E	+	1	0	CEP250	33553965	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.361000	0.66092	2.420000	0.82092	0.561000	0.74099	GAA	.		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
RBM12	10137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	34242103	34242103	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:34242103T>A	ENST00000374114.3	-	3	1405	c.1142A>T	c.(1141-1143)cAg>cTg	p.Q381L	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_5'Flank|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.Q381L|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.Q381L	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	381						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGCTACCCACTGTCTTTCTGT	0.463											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.Q381L		.											.	RBM12-93	0			c.A1142T						.						175.0	167.0	169.0					20																	34242103		2203	4300	6503	SO:0001583	missense	10137	exon2			ACCCACTGTCTTT	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1142A>T	20.37:g.34242103T>A	ENSP00000363228:p.Gln381Leu	101	0	846	90	17	NM_001198840	0	0	0	0	0	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.123430	0.56613	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.30714	1.52;1.52;1.52	4.59	4.59	0.56863	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000002	T	0.48352	0.1495	L	0.50333	1.59	0.80722	D	1	P	0.50156	0.932	D	0.65773	0.938	T	0.49624	-0.8920	10	0.72032	D	0.01	-2.2348	14.2173	0.65802	0.0:0.0:0.0:1.0	.	381	Q9NTZ6	RBM12_HUMAN	L	381;381;381;180	ENSP00000363228:Q381L;ENSP00000352668:Q381L;ENSP00000363217:Q381L	ENSP00000339879:Q180L	Q	-	2	0	RBM12	33705517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.493000	0.81493	1.938000	0.56188	0.449000	0.29647	CAG	.		0.463	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047	
PHF20	51230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	34535448	34535448	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:34535448C>T	ENST00000374012.3	+	18	3067	c.2938C>T	c.(2938-2940)Cct>Tct	p.P980S	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	980					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACTGGAGCCCCCTGAGCCGCT	0.567																																					p.P980S		.											.	PHF20-515	0			c.C2938T						.						52.0	47.0	49.0					20																	34535448		2203	4300	6503	SO:0001583	missense	51230	exon18			GAGCCCCCTGAGC	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2938C>T	20.37:g.34535448C>T	ENSP00000363124:p.Pro980Ser	90	0		112	50	NM_016436	0	0	0	0	0	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673234	0.67928	.	.	ENSG00000025293	ENST00000374012	T	0.77750	-1.12	5.01	5.01	0.66863	.	0.046808	0.85682	D	0.000000	D	0.87744	0.6254	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88751	0.3250	10	0.72032	D	0.01	.	18.5176	0.90941	0.0:1.0:0.0:0.0	.	980	Q9BVI0	PHF20_HUMAN	S	980	ENSP00000363124:P980S	ENSP00000363124:P980S	P	+	1	0	PHF20	33998862	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.285000	0.78660	2.602000	0.87976	0.650000	0.86243	CCT	.		0.567	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436	
CNBD2	140894	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	34568458	34568458	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:34568458C>T	ENST00000373973.3	+	4	494	c.321C>T	c.(319-321)gtC>gtT	p.V107V	CNBD2_ENST00000349339.1_Silent_p.V107V|CNBD2_ENST00000538900.1_Silent_p.V107V			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	107																	TCCAGGCCGTCTGTAACATCT	0.547																																					p.V107V		.											.	.	0			c.C321T						.						104.0	86.0	92.0					20																	34568458		2203	4300	6503	SO:0001819	synonymous_variant	140894	exon4			GGCCGTCTGTAAC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.321C>T	20.37:g.34568458C>T		162	1		193	46	NM_080834	0	0	0	0	0	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37																																																																																				.		0.547	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834	
PPP1R16B	26051	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	37531363	37531363	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:37531363G>A	ENST00000299824.1	+	6	813	c.624G>A	c.(622-624)atG>atA	p.M208I	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.M208I	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	208					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGCAGCAGATGATTGCGGACA	0.567																																					p.M208I		.											.	PPP1R16B-228	0			c.G624A						.						119.0	100.0	106.0					20																	37531363		2203	4300	6503	SO:0001583	missense	26051	exon6			GCAGATGATTGCG	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.624G>A	20.37:g.37531363G>A	ENSP00000299824:p.Met208Ile	173	1		217	91	NM_001172735	0	0	0	0	0	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914218	0.92178	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.51574	0.7;0.7	4.42	4.42	0.53409	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	L	0.60957	1.885	0.80722	D	1	P;P	0.51147	0.942;0.942	P;P	0.54924	0.764;0.764	T	0.53968	-0.8363	10	0.25751	T	0.34	.	17.5774	0.87955	0.0:0.0:1.0:0.0	.	208;208	E9PFS8;Q96T49	.;PP16B_HUMAN	I	208	ENSP00000299824:M208I;ENSP00000362428:M208I	ENSP00000299824:M208I	M	+	3	0	PPP1R16B	36964777	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.345000	0.97053	2.440000	0.82611	0.655000	0.94253	ATG	.		0.567	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
MAFB	9935	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	39316536	39316536	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:39316536G>C	ENST00000373313.2	-	1	1344	c.955C>G	c.(955-957)Ccc>Gcc	p.P319A	MAFB_ENST00000396967.1_Missense_Mutation_p.P319A	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	319					brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				AAGAACTCGGGAGAGGAGGGG	0.687			T	IGH@	MM																																p.P319A		.		Dom	yes		20	20q11.2-q13.1	9935	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)		L	.	MAFB-846	0			c.C955G						.						32.0	38.0	36.0					20																	39316536		2203	4300	6503	SO:0001583	missense	9935	exon1			ACTCGGGAGAGGA	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.955C>G	20.37:g.39316536G>C	ENSP00000362410:p.Pro319Ala	59	0		59	21	NM_005461	0	0	0	0	0	B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	37	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361015	0.41801	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.98249	-4.82;-4.82	3.67	3.67	0.42095	.	0.120260	0.56097	D	0.000021	D	0.97250	0.9101	M	0.64170	1.965	0.80722	D	1	B	0.29988	0.264	B	0.36885	0.235	D	0.97702	1.0185	10	0.48119	T	0.1	-13.2719	16.0038	0.80344	0.0:0.0:1.0:0.0	.	319	Q9Y5Q3	MAFB_HUMAN	A	319	ENSP00000362410:P319A;ENSP00000380167:P319A	ENSP00000362410:P319A	P	-	1	0	MAFB	38749950	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.612000	0.82975	2.072000	0.62099	0.456000	0.33151	CCC	.		0.687	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2		
PTPRT	11122	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	40980823	40980823	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:40980823C>A	ENST00000373187.1	-	10	1662	c.1663G>T	c.(1663-1665)Ggt>Tgt	p.G555C	PTPRT_ENST00000373184.1_Missense_Mutation_p.G555C|PTPRT_ENST00000373201.1_Missense_Mutation_p.G555C|PTPRT_ENST00000356100.2_Missense_Mutation_p.G555C|PTPRT_ENST00000373198.4_Missense_Mutation_p.G555C|PTPRT_ENST00000373190.1_Missense_Mutation_p.G555C|PTPRT_ENST00000373193.3_Missense_Mutation_p.G555C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	555	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTACAGACCCACAAAGAGG	0.567																																					p.G555C		.											.	PTPRT-664	0			c.G1663T						.						84.0	89.0	88.0					20																	40980823		1947	4131	6078	SO:0001583	missense	11122	exon10			ACAGACCCACAAA	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1663G>T	20.37:g.40980823C>A	ENSP00000362283:p.Gly555Cys	145	2		154	66	NM_007050	0	0	0	0	0	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982487	0.93044	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85440	0.5697	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.983;0.985	D	0.87772	0.2606	10	0.72032	D	0.01	.	20.5541	0.99286	0.0:1.0:0.0:0.0	.	555;555	O14522-1;O14522	.;PTPRT_HUMAN	C	555	ENSP00000362286:G555C;ENSP00000362283:G555C;ENSP00000362289:G555C;ENSP00000348408:G555C;ENSP00000362294:G555C;ENSP00000362280:G555C;ENSP00000362297:G555C	ENSP00000348408:G555C	G	-	1	0	PTPRT	40414237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.864000	0.98301	0.551000	0.68910	GGT	.		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
L3MBTL1	26013	hgsc.bcm.edu	37	20	42143400	42143400	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:42143400G>T	ENST00000427442.2	+	4	579	c.420G>T	c.(418-420)gcG>gcT	p.A140A	L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000373135.3_Silent_p.A72A|L3MBTL1_ENST00000418998.1_Silent_p.A140A|L3MBTL1_ENST00000373134.1_Silent_p.A72A|L3MBTL1_ENST00000444063.1_Silent_p.A72A			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	72					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ATGGCGAGGCGGGCCCCCAAC	0.746																																					p.A140A		.											.	L3MBTL1-227	0			c.G420T						.						4.0	6.0	5.0					20																	42143400		2013	3977	5990	SO:0001819	synonymous_variant	26013	exon4			CGAGGCGGGCCCC	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.420G>T	20.37:g.42143400G>T		6	0		102	60	NM_032107	0	0	0	0	0	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	CCDS46602.2																																																																																			.		0.746	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107	
MYBL2	4605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	42315672	42315672	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:42315672G>C	ENST00000217026.4	+	5	587	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R	MYBL2_ENST00000396863.4_Missense_Mutation_p.G130R	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	154	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAAGGTGCTGGGCAACCGCTG	0.617																																					p.G154R		.											.	MYBL2-415	0			c.G460C						.						38.0	32.0	34.0					20																	42315672		2203	4300	6503	SO:0001583	missense	4605	exon5			GTGCTGGGCAACC		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.460G>C	20.37:g.42315672G>C	ENSP00000217026:p.Gly154Arg	87	0		118	57	NM_002466	0	0	0	0	0	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979417	0.92982	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.69926	1.62;-0.44	5.36	5.36	0.76844	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.87241	0.6128	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.955	D	0.90453	0.4440	10	0.87932	D	0	-36.977	18.2387	0.89958	0.0:0.0:1.0:0.0	.	130;154	F8W6N6;P10244	.;MYBB_HUMAN	R	130;154	ENSP00000380072:G130R;ENSP00000217026:G154R	ENSP00000217026:G154R	G	+	1	0	MYBL2	41749086	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.726000	0.98782	2.687000	0.91594	0.462000	0.41574	GGC	.		0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466	
TOX2	84969	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	42683068	42683068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:42683068C>T	ENST00000358131.5	+	5	1016	c.808C>T	c.(808-810)Cag>Tag	p.Q270*	TOX2_ENST00000341197.4_Nonsense_Mutation_p.Q261*|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q219*|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000423191.2_Nonsense_Mutation_p.Q219*	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	270					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGAGACACTCAGGCCGCCAT	0.557																																					p.Q270X		.											.	TOX2-91	0			c.C808T						.						72.0	64.0	67.0					20																	42683068		2203	4300	6503	SO:0001587	stop_gained	84969	exon5			GACACTCAGGCCG	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.808C>T	20.37:g.42683068C>T	ENSP00000350849:p.Gln270*	170	0		174	75	NM_001098798	0	0	0	0	0	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Nonsense_Mutation	SNP	ENST00000358131.5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	37	6.625173	0.97714	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.	.	.	5.44	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.2388	0.59985	0.0:0.9239:0.0:0.0761	.	.	.	.	X	261;219;219;270;139	.	ENSP00000344724:Q261X	Q	+	1	0	TOX2	42116482	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	7.818000	0.86416	1.308000	0.44962	-0.142000	0.14014	CAG	.		0.557	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2		
WISP2	8839	hgsc.bcm.edu	37	20	43348703	43348703	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:43348703C>A	ENST00000372868.2	+	3	569	c.226C>A	c.(226-228)Ctg>Atg	p.L76M	RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.L76M|WISP2_ENST00000190983.4_Missense_Mutation_p.L76M|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	76	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.L76L(1)		skin(1)	1		Myeloproliferative disorder(115;0.0122)				CAGCCAGGGCCTGGTCTGCCA	0.706																																					p.L76M		.											.	WISP2-130	1	Substitution - coding silent(1)	skin(1)	c.C226A						.						9.0	9.0	9.0					20																	43348703		2185	4268	6453	SO:0001583	missense	8839	exon2			CAGGGCCTGGTCT	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.226C>A	20.37:g.43348703C>A	ENSP00000361959:p.Leu76Met	3	0		24	14	NM_003881	0	0	0	0	0	B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108400	0.56291	.	.	ENSG00000064205	ENST00000372868;ENST00000372865;ENST00000190983	T;T;T	0.78003	-1.14;-1.14;-1.14	5.53	4.59	0.56863	Insulin-like growth factor-binding protein, IGFBP (3);	0.000000	0.64402	D	0.000001	D	0.88987	0.6587	M	0.85462	2.755	0.52501	D	0.999955	D;D	0.89917	0.991;1.0	P;D	0.97110	0.762;1.0	D	0.90619	0.4558	10	0.62326	D	0.03	-14.569	15.933	0.79679	0.1361:0.8639:0.0:0.0	.	76;76	Q6PEG3;O76076	.;WISP2_HUMAN	M	76	ENSP00000361959:L76M;ENSP00000361956:L76M;ENSP00000190983:L76M	ENSP00000190983:L76M	L	+	1	2	WISP2	42782117	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	3.817000	0.55668	1.335000	0.45486	-0.164000	0.13417	CTG	.		0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881	
RIMS4	140730	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	43384921	43384921	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:43384921C>G	ENST00000372851.3	-	6	730	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.E223Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	222					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.E222Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				AAGTCCAGCTCCTCCAGCAGC	0.642																																					p.E223Q		.											.	RIMS4-94	1	Substitution - Missense(1)	ovary(1)	c.G667C						.						57.0	48.0	51.0					20																	43384921		2203	4300	6503	SO:0001583	missense	140730	exon6			CCAGCTCCTCCAG		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.664G>C	20.37:g.43384921C>G	ENSP00000361942:p.Glu222Gln	147	0		139	63	NM_001205317	0	0	0	0	0	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490144	0.64074	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.79845	-1.31;-1.31	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	0.79341	0.4429	L	0.52905	1.665	0.80722	D	1	B;B	0.28324	0.207;0.207	B;B	0.29524	0.103;0.084	T	0.79142	-0.1925	10	0.72032	D	0.01	.	18.4886	0.90838	0.0:1.0:0.0:0.0	.	223;222	E1P613;Q9H426	.;RIMS4_HUMAN	Q	222;223	ENSP00000361942:E222Q;ENSP00000439287:E223Q	ENSP00000361942:E222Q	E	-	1	0	RIMS4	42818335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.355000	0.79922	0.655000	0.94253	GAG	.		0.642	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970	
DNTTIP1	116092	hgsc.bcm.edu	37	20	44420682	44420682	+	Silent	SNP	T	T	C	rs2664591	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:44420682T>C	ENST00000372622.3	+	1	107	c.39T>C	c.(37-39)ccT>ccC	p.P13P	WFDC3_ENST00000372630.2_5'Flank|WFDC3_ENST00000372632.2_5'Flank|WFDC3_ENST00000243938.4_5'Flank|WFDC3_ENST00000481847.1_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	13						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCGGGGACCTAGCGGGGCCG	0.746													C|||	3358	0.670527	0.6952	0.7968	5008	,	,		12080	0.6458		0.7058	False		,,,				2504	0.5368				p.P13P		.											.	DNTTIP1-91	0			c.T39C						.	C		2483,791		949,585,103	4.0	6.0	5.0		39	1.1	0.9	20	dbSNP_100	5	5222,1736		1983,1256,240	no	coding-synonymous	DNTTIP1	NM_052951.2		2932,1841,343	CC,CT,TT		24.9497,24.16,24.697		13/330	44420682	7705,2527	1637	3479	5116	SO:0001819	synonymous_variant	116092	exon1			GGGACCTAGCGGG	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.39T>C	20.37:g.44420682T>C		0	0		10	10	NM_052951	0	0	0	0	0	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	CCDS13369.1																																																																																			T|0.311;C|0.689		0.746	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951	
ZNF334	55713	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	45130422	45130422	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45130422C>A	ENST00000347606.4	-	5	1738	c.1556G>T	c.(1555-1557)tGt>tTt	p.C519F	ZNF334_ENST00000457685.2_Missense_Mutation_p.C481F|ZNF334_ENST00000593880.1_Missense_Mutation_p.C542F	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATGTTCACTACACTCATAAAG	0.403																																					p.C519F		.											.	ZNF334-92	0			c.G1556T						.						216.0	200.0	205.0					20																	45130422		2203	4300	6503	SO:0001583	missense	55713	exon5			TCACTACACTCAT	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1556G>T	20.37:g.45130422C>A	ENSP00000255129:p.Cys519Phe	134	1		127	27	NM_018102	0	0	0	0	0	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	7.165	0.586504	0.13749	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.65549	-0.16;-0.16	3.45	-1.01	0.10169	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60792	0.2296	M	0.89785	3.06	0.09310	N	1	B;B;B	0.29432	0.244;0.148;0.153	B;B;B	0.20955	0.032;0.032;0.032	T	0.57894	-0.7732	9	0.87932	D	0	.	3.8933	0.09128	0.1672:0.5253:0.0:0.3075	.	481;519;542	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	F	481;519	ENSP00000402582:C481F;ENSP00000255129:C519F	ENSP00000255129:C519F	C	-	2	0	ZNF334	44563829	0.635000	0.27199	0.000000	0.03702	0.004000	0.04260	2.224000	0.42945	-0.303000	0.08856	-0.293000	0.09583	TGT	.		0.403	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1		
OCSTAMP	128506	broad.mit.edu;mdanderson.org	37	20	45170432	45170432	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45170432G>C	ENST00000279028.2	-	3	1195	c.1182C>G	c.(1180-1182)gcC>gcG	p.A394A		NM_080721.1	NP_542452.1	Q9BR26	OCSTP_HUMAN	osteoclast stimulatory transmembrane protein	394					cellular response to estrogen stimulus (GO:0071391)|cellular response to tumor necrosis factor (GO:0071356)|multinuclear osteoclast differentiation (GO:0072674)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of osteoclast proliferation (GO:0090290)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						GGGGACGCCGGGCGGGTAGCA	0.741																																					p.A394A		.											.	.	0			c.C1182G						.						6.0	6.0	6.0					20																	45170432		687	1579	2266	SO:0001819	synonymous_variant	128506	exon3			ACGCCGGGCGGGT	AL034424	CCDS54468.1	20q13.12	2012-03-27	2012-03-27	2012-03-27	ENSG00000149635	ENSG00000149635			16116	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 123"""	C20orf123		18064667	Standard	NM_080721		Approved	dJ257E24.3	uc010zxu.2	Q9BR26	OTTHUMG00000032652	ENST00000279028.2:c.1182C>G	20.37:g.45170432G>C		14	0		39	15	NM_080721	0	0	0	0	0		Silent	SNP	ENST00000279028.2	37	CCDS54468.1																																																																																			.		0.741	OCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079573.2	XM_496476	
OCSTAMP	128506	ucsc.edu;bcgsc.ca	37	20	45174698	45174698	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45174698C>A	ENST00000279028.2	-	2	328	c.315G>T	c.(313-315)ctG>ctT	p.L105L		NM_080721.1	NP_542452.1	Q9BR26	OCSTP_HUMAN	osteoclast stimulatory transmembrane protein	105					cellular response to estrogen stimulus (GO:0071391)|cellular response to tumor necrosis factor (GO:0071356)|multinuclear osteoclast differentiation (GO:0072674)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of osteoclast proliferation (GO:0090290)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						TGAGTGCAAACAGGCAGCGGA	0.642																																					p.L105L		.											.	.	0			c.G315T						.						39.0	47.0	44.0					20																	45174698		692	1591	2283	SO:0001819	synonymous_variant	128506	exon2			TGCAAACAGGCAG	AL034424	CCDS54468.1	20q13.12	2012-03-27	2012-03-27	2012-03-27	ENSG00000149635	ENSG00000149635			16116	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 123"""	C20orf123		18064667	Standard	NM_080721		Approved	dJ257E24.3	uc010zxu.2	Q9BR26	OTTHUMG00000032652	ENST00000279028.2:c.315G>T	20.37:g.45174698C>A		160	3		166	77	NM_080721	0	0	0	0	0		Silent	SNP	ENST00000279028.2	37	CCDS54468.1																																																																																			.		0.642	OCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079573.2	XM_496476	
SLC2A10	81031	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	45354555	45354555	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45354555G>T	ENST00000359271.2	+	2	1130	c.880G>T	c.(880-882)Gca>Tca	p.A294S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	294					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGTGGACCGTGCAGGCCGCAG	0.662																																					p.A294S		.											.	SLC2A10-91	0			c.G880T						.						88.0	83.0	85.0					20																	45354555		2203	4300	6503	SO:0001583	missense	81031	exon2			GACCGTGCAGGCC	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.880G>T	20.37:g.45354555G>T	ENSP00000352216:p.Ala294Ser	149	0		167	39	NM_030777	0	0	0	0	0	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277220	0.80580	.	.	ENSG00000197496	ENST00000359271	T	0.75154	-0.91	5.23	4.28	0.50868	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.407128	0.28589	N	0.014808	T	0.79370	0.4434	M	0.66378	2.025	0.26343	N	0.97733	P	0.44659	0.84	P	0.50270	0.636	T	0.72207	-0.4360	10	0.33940	T	0.23	-0.7218	15.9873	0.80168	0.0:0.1349:0.865:0.0	.	294	O95528	GTR10_HUMAN	S	294	ENSP00000352216:A294S	ENSP00000352216:A294S	A	+	1	0	SLC2A10	44787962	1.000000	0.71417	0.061000	0.19648	0.941000	0.58515	6.665000	0.74442	1.433000	0.47394	0.655000	0.94253	GCA	.		0.662	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2		
EYA2	2139	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	45700881	45700881	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45700881G>T	ENST00000327619.5	+	6	847	c.473G>T	c.(472-474)aGt>aTt	p.S158I	EYA2_ENST00000317304.6_Missense_Mutation_p.S158I|EYA2_ENST00000357410.3_Missense_Mutation_p.S158I	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	158					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGTTTCGGGAGTGTGCACCAG	0.542																																					p.S158I	Pancreas(120;56 1725 18501 25218 43520)	.											.	EYA2-523	0			c.G473T						.						80.0	67.0	71.0					20																	45700881		2203	4300	6503	SO:0001583	missense	2139	exon6			TCGGGAGTGTGCA		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.473G>T	20.37:g.45700881G>T	ENSP00000333640:p.Ser158Ile	137	1		163	29	NM_172110	0	0	0	0	0	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	9.516	1.107105	0.20714	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.81821	-1.54;-1.54;-1.54	5.12	0.486	0.16836	.	0.749814	0.13625	N	0.374125	T	0.70193	0.3196	L	0.34521	1.04	0.09310	N	1	P;B;B;B	0.49090	0.919;0.076;0.276;0.095	B;B;B;B	0.37304	0.246;0.106;0.141;0.141	T	0.60393	-0.7272	10	0.33141	T	0.24	-18.4469	18.2489	0.89996	0.0:0.6357:0.3642:0.0	.	158;158;158;158	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	I	158	ENSP00000333640:S158I;ENSP00000349986:S158I;ENSP00000321590:S158I	ENSP00000321590:S158I	S	+	2	0	EYA2	45134288	0.770000	0.28543	0.327000	0.25402	0.128000	0.20619	0.705000	0.25675	0.157000	0.19338	0.555000	0.69702	AGT	.		0.542	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	
EYA2	2139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	45771748	45771748	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45771748C>A	ENST00000327619.5	+	10	1313	c.939C>A	c.(937-939)ttC>ttA	p.F313L	EYA2_ENST00000317304.6_Intron|EYA2_ENST00000357410.3_Missense_Mutation_p.F313L	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	313					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGATGATCTTCAACCTTGCAG	0.463																																					p.F313L	Pancreas(120;56 1725 18501 25218 43520)	.											.	EYA2-523	0			c.C939A						.						237.0	180.0	199.0					20																	45771748		2203	4300	6503	SO:0001583	missense	2139	exon10			GATCTTCAACCTT		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.939C>A	20.37:g.45771748C>A	ENSP00000333640:p.Phe313Leu	151	0		137	65	NM_172110	0	0	0	0	0	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	36	5.690708	0.96793	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000458636	D;D;D	0.81996	-1.56;-1.56;-1.56	6.08	6.08	0.98989	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	L	0.50919	1.6	0.80722	D	1	D;P;P	0.63880	0.993;0.953;0.953	D;D;D	0.67231	0.95;0.921;0.921	D	0.85792	0.1368	10	0.33940	T	0.23	-18.9488	20.6634	0.99662	0.0:1.0:0.0:0.0	.	313;313;313	O00167-3;A8KAG7;O00167	.;.;EYA2_HUMAN	L	313;313;184	ENSP00000333640:F313L;ENSP00000349986:F313L;ENSP00000395427:F184L	ENSP00000333640:F313L	F	+	3	2	EYA2	45205155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.449000	0.66619	2.894000	0.99253	0.655000	0.94253	TTC	.		0.463	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	
ZMYND8	23613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	45976616	45976616	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:45976616G>C	ENST00000311275.7	-	2	262	c.9C>G	c.(7-9)atC>atG	p.I3M	ZMYND8_ENST00000352431.2_Missense_Mutation_p.I23M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.I23M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.I3M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.I3M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.I23M|RP4-569M23.4_ENST00000609320.1_RNA|ZMYND8_ENST00000458360.2_Missense_Mutation_p.I23M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.I28M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.I23M|ZMYND8_ENST00000540497.1_Missense_Mutation_p.I23M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.I3M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.I30M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.I23M	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	3					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.I23I(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGCGAGTAGAGATATCCATGC	0.388																																					p.I23M		.											.	ZMYND8-252	1	Substitution - coding silent(1)	lung(1)	c.C69G						.						169.0	160.0	163.0					20																	45976616		2203	4300	6503	SO:0001583	missense	23613	exon2			AGTAGAGATATCC	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.9C>G	20.37:g.45976616G>C	ENSP00000312237:p.Ile3Met	53	0		54	15	NM_183048	0	0	0	0	0	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.	.	.	.	.	.	.	.	.	.	G	16.89	3.247866	0.59103	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836;ENST00000446894;ENST00000441977	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96104	-1.83;-1.92;-1.83;-1.92;-1.67;-1.66;-1.78;-1.68;-1.93;-2.78;-1.67;-1.86;-1.82;-3.91	5.86	3.94	0.45596	.	0.216973	0.40064	N	0.001184	D	0.94574	0.8252	N	0.24115	0.695	0.27856	N	0.940589	D;P;P;P;B;P;P;B;B;B;P;B;B;P;P;D;P	0.58620	0.983;0.951;0.919;0.523;0.429;0.951;0.951;0.447;0.313;0.199;0.919;0.375;0.209;0.954;0.925;0.974;0.919	P;P;P;B;B;P;P;B;B;B;P;B;B;P;P;P;P	0.61800	0.83;0.894;0.569;0.429;0.193;0.859;0.894;0.097;0.097;0.086;0.635;0.429;0.045;0.569;0.592;0.646;0.707	D	0.90178	0.4240	10	0.87932	D	0	-0.14	12.5493	0.56218	0.1339:0.0:0.8661:0.0	.	23;30;23;23;23;23;3;23;23;23;3;3;23;23;23;23;28	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q569J9;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	M	23;3;23;3;23;23;28;30;3;3;23;23;23;3;3;3	ENSP00000354166:I23M;ENSP00000312237:I3M;ENSP00000392964:I23M;ENSP00000262975:I3M;ENSP00000420095:I23M;ENSP00000335537:I23M;ENSP00000379577:I28M;ENSP00000439800:I30M;ENSP00000348246:I3M;ENSP00000396725:I3M;ENSP00000418210:I23M;ENSP00000361093:I23M;ENSP00000443086:I23M;ENSP00000413727:I3M	ENSP00000262975:I3M	I	-	3	3	ZMYND8	45410023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.028000	0.30128	0.836000	0.34901	0.563000	0.77884	ATC	.		0.388	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
SULF2	55959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	46311853	46311853	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:46311853C>A	ENST00000359930.4	-	7	1800	c.949G>T	c.(949-951)Gac>Tac	p.D317Y	SULF2_ENST00000361612.4_Missense_Mutation_p.D317Y|SULF2_ENST00000467815.1_Missense_Mutation_p.D317Y|SULF2_ENST00000484875.1_Missense_Mutation_p.D317Y|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	317					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TAACCGTGGTCGGCGGTGTAT	0.567																																					p.D317Y		.											.	SULF2-293	0			c.G949T						.						118.0	80.0	93.0					20																	46311853		2203	4300	6503	SO:0001583	missense	55959	exon7			CGTGGTCGGCGGT	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.949G>T	20.37:g.46311853C>A	ENSP00000353007:p.Asp317Tyr	212	0		279	55	NM_001161841	0	0	0	0	0	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	c	26.7	4.767240	0.90020	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99944	-8.55;-8.55;-8.55;-8.55	4.95	4.95	0.65309	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.087785	0.85682	D	0.000000	D	0.99964	0.9986	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.984;1.0	D	0.96530	0.9392	10	0.87932	D	0	-27.6549	18.787	0.91959	0.0:1.0:0.0:0.0	.	317;317	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	Y	317	ENSP00000353007:D317Y;ENSP00000418290:D317Y;ENSP00000354662:D317Y;ENSP00000418442:D317Y	ENSP00000353007:D317Y	D	-	1	0	SULF2	45745260	1.000000	0.71417	0.986000	0.45419	0.842000	0.47809	7.606000	0.82863	2.751000	0.94390	0.537000	0.68136	GAC	.		0.567	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	
SULF2	55959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	46385940	46385940	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:46385940C>A	ENST00000359930.4	-	2	1019	c.168G>T	c.(166-168)gtG>gtT	p.V56V	SULF2_ENST00000361612.4_Silent_p.V56V|SULF2_ENST00000467815.1_Silent_p.V56V|SULF2_ENST00000484875.1_Silent_p.V56V	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	56					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TACCCAGCTCCACATCCTGGT	0.657																																					p.V56V		.											.	SULF2-293	0			c.G168T						.						40.0	30.0	34.0					20																	46385940		2183	4267	6450	SO:0001819	synonymous_variant	55959	exon2			CAGCTCCACATCC	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.168G>T	20.37:g.46385940C>A		62	0		73	31	NM_001161841	0	0	0	0	0	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	CCDS13408.1																																																																																			.		0.657	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	
PREX1	57580	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	47262418	47262418	+	Missense_Mutation	SNP	G	G	C	rs533666594		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:47262418G>C	ENST00000371941.3	-	26	3505	c.3483C>G	c.(3481-3483)caC>caG	p.H1161Q	PREX1_ENST00000396220.1_Missense_Mutation_p.H1161Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1161					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCATGGTGTCGTGGCCTGAGT	0.612																																					p.H1161Q		.											.	PREX1-231	0			c.C3483G						.						145.0	99.0	114.0					20																	47262418		2203	4300	6503	SO:0001583	missense	57580	exon26			GGTGTCGTGGCCT	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3483C>G	20.37:g.47262418G>C	ENSP00000361009:p.His1161Gln	188	1		154	65	NM_020820	0	0	0	0	0	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511205	0.64522	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.41758	0.99;0.99	4.8	-5.64	0.02466	.	0.000000	0.56097	U	0.000025	T	0.56156	0.1966	M	0.70275	2.135	0.50813	D	0.999896	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62229	-0.6898	10	0.72032	D	0.01	.	13.5523	0.61738	0.8344:0.0:0.1656:0.0	.	1161;458	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	1161	ENSP00000361009:H1161Q;ENSP00000379522:H1161Q	ENSP00000361009:H1161Q	H	-	3	2	PREX1	46695825	0.227000	0.23707	0.849000	0.33467	0.918000	0.54935	-0.318000	0.08050	-1.313000	0.02303	-1.202000	0.01658	CAC	.		0.612	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
PREX1	57580	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	47317415	47317415	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:47317415G>T	ENST00000371941.3	-	7	815	c.793C>A	c.(793-795)Ctc>Atc	p.L265I	PREX1_ENST00000396220.1_Missense_Mutation_p.L265I	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	265					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGTCTGTGAGGTTGGAACCC	0.532																																					p.L265I		.											.	PREX1-231	0			c.C793A						.						171.0	165.0	167.0					20																	47317415		2203	4300	6503	SO:0001583	missense	57580	exon7			CTGTGAGGTTGGA	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.793C>A	20.37:g.47317415G>T	ENSP00000361009:p.Leu265Ile	102	0		127	63	NM_020820	0	0	0	0	0	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727120	0.30593	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	D;D	0.88431	-2.38;-2.38	5.11	5.11	0.69529	Pleckstrin homology-type (1);	0.000000	0.46442	U	0.000281	T	0.74627	0.3741	N	0.04880	-0.145	0.80722	D	1	P	0.36282	0.546	B	0.31442	0.13	T	0.76852	-0.2806	10	0.05436	T	0.98	.	18.9024	0.92448	0.0:0.0:1.0:0.0	.	265	Q8TCU6	PREX1_HUMAN	I	265	ENSP00000361009:L265I;ENSP00000379522:L265I	ENSP00000361009:L265I	L	-	1	0	PREX1	46750822	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.025000	0.64097	2.526000	0.85167	0.455000	0.32223	CTC	.		0.532	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
B4GALT5	9334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	48257052	48257052	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:48257052T>A	ENST00000371711.4	-	6	944	c.757A>T	c.(757-759)Agg>Tgg	p.R253W		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	253					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GCAAAATGCCTCGGCATCTGT	0.373																																					p.R253W		.											.	B4GALT5-91	0			c.A757T						.						139.0	134.0	135.0					20																	48257052		2203	4300	6503	SO:0001583	missense	9334	exon6			AATGCCTCGGCAT	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.757A>T	20.37:g.48257052T>A	ENSP00000360776:p.Arg253Trp	50	0		55	27	NM_004776	0	0	0	0	0	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547103	0.86022	.	.	ENSG00000158470	ENST00000371711	T	0.36699	1.24	5.91	4.78	0.61160	.	0.086594	0.85682	D	0.000000	T	0.67211	0.2869	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74237	-0.3730	10	0.87932	D	0	-23.4315	11.9734	0.53075	0.0:0.0:0.2751:0.7249	.	253	O43286	B4GT5_HUMAN	W	253	ENSP00000360776:R253W	ENSP00000360776:R253W	R	-	1	2	B4GALT5	47690459	1.000000	0.71417	0.952000	0.39060	0.983000	0.72400	3.540000	0.53611	1.020000	0.39573	0.533000	0.62120	AGG	.		0.373	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776	
SALL4	57167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	50408431	50408431	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:50408431G>T	ENST00000217086.4	-	2	702	c.591C>A	c.(589-591)agC>agA	p.S197R	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Missense_Mutation_p.S197R	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	197					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGCATCCGCGCTCCGCTGAT	0.602																																					p.S197R		.											.	SALL4-92	0			c.C591A						.						91.0	91.0	91.0					20																	50408431		2203	4300	6503	SO:0001583	missense	57167	exon2			ATCCGCGCTCCGC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.591C>A	20.37:g.50408431G>T	ENSP00000217086:p.Ser197Arg	88	0		88	15	NM_020436	0	0	0	0	0	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127184	0.37533	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.68903	-0.36;-0.36	4.91	-2.45	0.06481	.	0.274299	0.26439	N	0.024361	T	0.64638	0.2616	M	0.65975	2.015	0.09310	N	0.999999	D;D	0.55385	0.971;0.971	P;P	0.49561	0.615;0.615	T	0.62520	-0.6837	10	0.87932	D	0	-21.1181	8.4146	0.32664	0.4918:0.1037:0.4044:0.0	.	197;197	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	R	197	ENSP00000217086:S197R;ENSP00000379319:S197R	ENSP00000217086:S197R	S	-	3	2	SALL4	49841838	0.000000	0.05858	0.242000	0.24170	0.794000	0.44872	-0.913000	0.04042	-0.322000	0.08615	-0.140000	0.14226	AGC	.		0.602	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
PCK1	5105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	56139391	56139391	+	Silent	SNP	G	G	T	rs200264001		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:56139391G>T	ENST00000319441.4	+	7	1292	c.1128G>T	c.(1126-1128)ccG>ccT	p.P376P	PCK1_ENST00000543666.1_Silent_p.P59P|PCK1_ENST00000535860.1_Silent_p.P244P	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	376					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTGATGAGCCGCTAGCTTCAG	0.567																																					p.P376P		.											.	PCK1-227	0			c.G1128T						.						101.0	89.0	93.0					20																	56139391		2203	4300	6503	SO:0001819	synonymous_variant	5105	exon7			TGAGCCGCTAGCT		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1128G>T	20.37:g.56139391G>T		277	0		268	54	NM_002591	0	0	0	0	0	A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	CCDS13460.1																																																																																			G|0.999;A|0.000		0.567	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2		
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	57428374	57428374	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57428374delC	ENST00000371100.4	+	1	606	c.54delC	c.(52-54)atcfs	p.I18fs	GNAS_ENST00000371099.2_Frame_Shift_Del_p.I18fs|GNAS_ENST00000306120.3_5'Flank|GNAS_ENST00000371098.2_Intron|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Frame_Shift_Del_p.I18fs|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AACGCGATATCCCCCCTGAAA	0.607			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											p.I18fs	Colon(117;935 1597 6045 8307 46442)	.		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	.	GNAS-4767	0			c.54delC						.						21.0	24.0	23.0					20																	57428374		692	1591	2283	SO:0001589	frameshift_variant	2778	exon1			CGATATCCCCCCT	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.54delC	20.37:g.57428374delC	ENSP00000360141:p.Ile18fs	147	0		111	51	NM_080425	0	0	0	0	0	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Frame_Shift_Del	DEL	ENST00000371100.4	37	CCDS46622.1																																																																																			.		0.607	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516	
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	57768917	57768917	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57768917C>A	ENST00000371030.2	+	1	2843	c.2843C>A	c.(2842-2844)gCa>gAa	p.A948E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	948							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTACCTCAGGCAGAGACCCCC	0.607																																					p.A948E		.											.	ZNF831-126	0			c.C2843A						.						86.0	87.0	87.0					20																	57768917		2009	4167	6176	SO:0001583	missense	128611	exon1			CTCAGGCAGAGAC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2843C>A	20.37:g.57768917C>A	ENSP00000360069:p.Ala948Glu	74	0		68	34	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	5.820	0.335502	0.11013	.	.	ENSG00000124203	ENST00000371030	T	0.03386	3.95	5.05	0.647	0.17796	.	0.526628	0.17322	N	0.178453	T	0.01320	0.0043	N	0.03608	-0.345	0.09310	N	0.999998	B	0.09022	0.002	B	0.06405	0.002	T	0.47898	-0.9081	10	0.08179	T	0.78	-0.9952	3.8788	0.09069	0.4267:0.2392:0.334:0.0	.	948	Q5JPB2	ZN831_HUMAN	E	948	ENSP00000360069:A948E	ENSP00000360069:A948E	A	+	2	0	ZNF831	57202312	.	.	0.565000	0.28409	0.696000	0.40369	.	.	0.264000	0.21851	0.655000	0.94253	GCA	.		0.607	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	57769069	57769069	+	Missense_Mutation	SNP	G	G	T	rs367871458		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57769069G>T	ENST00000371030.2	+	1	2995	c.2995G>T	c.(2995-2997)Ggt>Tgt	p.G999C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	999							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCCTCCCCAGGTGAGGCGGA	0.642																																					p.G999C		.											.	ZNF831-126	0			c.G2995T						.	G	CYS/GLY	0,3878		0,0,1939	38.0	40.0	39.0		2995	2.5	0.0	20		39	1,8279		0,1,4139	no	missense	ZNF831	NM_178457.1	159	0,1,6078	TT,TG,GG		0.0121,0.0,0.0082	probably-damaging	999/1678	57769069	1,12157	1939	4140	6079	SO:0001583	missense	128611	exon1			TCCCCAGGTGAGG	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2995G>T	20.37:g.57769069G>T	ENSP00000360069:p.Gly999Cys	32	0		34	13	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587275	0.46110	0.0	1.21E-4	ENSG00000124203	ENST00000371030	T	0.10288	2.89	4.56	2.45	0.29901	.	0.659654	0.13921	N	0.353569	T	0.13286	0.0322	N	0.24115	0.695	0.09310	N	1	D	0.67145	0.996	P	0.57371	0.819	T	0.10636	-1.0621	10	0.72032	D	0.01	-0.6762	6.6522	0.22969	0.1058:0.1823:0.7119:0.0	.	999	Q5JPB2	ZN831_HUMAN	C	999	ENSP00000360069:G999C	ENSP00000360069:G999C	G	+	1	0	ZNF831	57202464	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	-0.367000	0.07553	1.051000	0.40369	0.467000	0.42956	GGT	.		0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	57769218	57769218	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57769218C>A	ENST00000371030.2	+	1	3144	c.3144C>A	c.(3142-3144)ccC>ccA	p.P1048P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1048							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGGGGCTCCCAGGGAGGCTA	0.632																																					p.P1048P		.											.	ZNF831-126	0			c.C3144A						.						19.0	24.0	22.0					20																	57769218		2053	4211	6264	SO:0001819	synonymous_variant	128611	exon1			GGCTCCCAGGGAG	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3144C>A	20.37:g.57769218C>A		66	0		93	20	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																			.		0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
ZNF831	128611	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	57828115	57828115	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57828115C>A	ENST00000371030.2	+	4	4110	c.4110C>A	c.(4108-4110)gaC>gaA	p.D1370E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1370							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGAAGGTGACTGCAGACAAA	0.488																																					p.D1370E		.											.	ZNF831-126	0			c.C4110A						.						117.0	116.0	117.0					20																	57828115		1949	4143	6092	SO:0001583	missense	128611	exon4			AGGTGACTGCAGA	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4110C>A	20.37:g.57828115C>A	ENSP00000360069:p.Asp1370Glu	146	1		187	89	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	9.854	1.194373	0.22037	.	.	ENSG00000124203	ENST00000371030	T	0.04706	3.57	5.0	-0.45	0.12223	.	0.876918	0.09535	N	0.789077	T	0.02929	0.0087	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.49143	-0.8970	10	0.08599	T	0.76	-0.4021	1.2265	0.01934	0.1542:0.4343:0.1498:0.2617	.	1370	Q5JPB2	ZN831_HUMAN	E	1370	ENSP00000360069:D1370E	ENSP00000360069:D1370E	D	+	3	2	ZNF831	57261510	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.140000	0.10342	-0.340000	0.08388	0.563000	0.77884	GAC	.		0.488	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	57829495	57829495	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:57829495T>A	ENST00000371030.2	+	5	4731	c.4731T>A	c.(4729-4731)gcT>gcA	p.A1577A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1577							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAAGTTCAGCTAGTTCACACC	0.478																																					p.A1577A		.											.	ZNF831-126	0			c.T4731A						.						66.0	65.0	66.0					20																	57829495		1920	4123	6043	SO:0001819	synonymous_variant	128611	exon5			TTCAGCTAGTTCA	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4731T>A	20.37:g.57829495T>A		229	0		211	86	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																			.		0.478	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
PHACTR3	116154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	58349336	58349336	+	Missense_Mutation	SNP	G	G	T	rs143127476		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:58349336G>T	ENST00000371015.1	+	7	1432	c.965G>T	c.(964-966)cGg>cTg	p.R322L	PHACTR3_ENST00000355648.4_Missense_Mutation_p.R281L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R211L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R211L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R319L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R281L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R281L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	322						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCAAAGAAGCGGCTGGATGTC	0.537																																					p.R322L		.											.	PHACTR3-93	0			c.G965T						.						53.0	57.0	56.0					20																	58349336		2203	4300	6503	SO:0001583	missense	116154	exon7			AGAAGCGGCTGGA	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.965G>T	20.37:g.58349336G>T	ENSP00000360054:p.Arg322Leu	124	0		117	27	NM_080672	0	0	0	0	0	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064226	0.36373	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.32515	1.86;1.85;1.45;1.88;1.88;1.88;1.45	5.06	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.60455	1.87	0.58432	D	0.999992	B;B;B	0.30605	0.287;0.239;0.239	B;B;B	0.29862	0.108;0.075;0.075	T	0.08700	-1.0709	10	0.45353	T	0.12	-19.6685	12.7447	0.57276	0.0796:0.0:0.9204:0.0	.	211;322;319	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	L	319;322;211;281;281;281;211	ENSP00000353002:R319L;ENSP00000360054:R322L;ENSP00000379001:R211L;ENSP00000442483:R281L;ENSP00000347866:R281L;ENSP00000378998:R281L;ENSP00000354555:R211L	ENSP00000347866:R281L	R	+	2	0	PHACTR3	57782731	1.000000	0.71417	0.811000	0.32455	0.274000	0.26718	8.550000	0.90675	1.114000	0.41781	0.655000	0.94253	CGG	G|0.999;A|0.000		0.537	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
FAM217B	63939	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	58519072	58519072	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:58519072A>C	ENST00000358293.3	+	5	489	c.74A>C	c.(73-75)cAa>cCa	p.Q25P	FAM217B_ENST00000360816.3_Missense_Mutation_p.Q25P|FAM217B_ENST00000469084.1_Intron	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	25																	AGTAAATCCCAAGTACCCCAC	0.448																																					p.Q25P		.											.	.	0			c.A74C						.						51.0	52.0	51.0					20																	58519072		2203	4300	6503	SO:0001583	missense	63939	exon4			AATCCCAAGTACC	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.74A>C	20.37:g.58519072A>C	ENSP00000351040:p.Gln25Pro	191	2		134	25	NM_022106	0	0	0	0	0	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.327941	0.24080	.	.	ENSG00000196227	ENST00000358293;ENST00000360816;ENST00000421092	T;T	0.35605	1.3;1.3	5.46	3.17	0.36434	.	0.845929	0.10135	N	0.711549	T	0.30885	0.0779	L	0.59436	1.845	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.42649	-0.9439	10	0.62326	D	0.03	-8.2838	1.2335	0.01948	0.5421:0.1427:0.1595:0.1557	.	25	Q9NTX9	CT177_HUMAN	P	25	ENSP00000351040:Q25P;ENSP00000354056:Q25P	ENSP00000351040:Q25P	Q	+	2	0	C20orf177	57952467	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.296000	0.19083	0.358000	0.24211	0.533000	0.62120	CAA	.		0.448	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106	
CDH4	1002	broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	60448951	60448951	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:60448951C>A	ENST00000360469.5	+	7	1133	c.1045C>A	c.(1045-1047)Cga>Aga	p.R349R	CDH4_ENST00000543233.1_Silent_p.R275R	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	349	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGGCCTGGACCGAGAGGTGAG	0.662																																					p.R349R		.											.	CDH4-282	0			c.C1045A						.						99.0	87.0	91.0					20																	60448951		2203	4300	6503	SO:0001819	synonymous_variant	1002	exon7			CTGGACCGAGAGG	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1045C>A	20.37:g.60448951C>A		102	1		150	40	NM_001794	0	0	0	0	0	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																			.		0.662	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
TAF4	6874	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	60581714	60581714	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:60581714G>A	ENST00000252996.4	-	7	2074	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	692					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGCCGTGAGCGCAGTGGTGGC	0.706																																					p.A692V		.											.	TAF4-93	0			c.C2075T						.						21.0	27.0	25.0					20																	60581714		2199	4294	6493	SO:0001583	missense	6874	exon7			GTGAGCGCAGTGG	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2075C>T	20.37:g.60581714G>A	ENSP00000252996:p.Ala692Val	19	0		175	42	NM_003185	0	0	0	0	0	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443106	0.63067	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.27890	1.65;1.64	5.46	5.46	0.80206	.	0.188517	0.45361	D	0.000370	T	0.39091	0.1065	L	0.40543	1.245	0.48236	D	0.999616	D	0.71674	0.998	P	0.53988	0.739	T	0.03483	-1.1032	10	0.17369	T	0.5	-20.5669	19.2974	0.94128	0.0:0.0:1.0:0.0	.	692	O00268	TAF4_HUMAN	V	692;556	ENSP00000252996:A692V;ENSP00000399091:A556V	ENSP00000252996:A692V	A	-	2	0	TAF4	60015109	1.000000	0.71417	0.308000	0.25141	0.847000	0.48162	6.952000	0.75989	2.550000	0.86006	0.563000	0.77884	GCG	.		0.706	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	
LAMA5	3911	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	60913072	60913072	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:60913072C>A	ENST00000252999.3	-	14	1957	c.1891G>T	c.(1891-1893)Gca>Tca	p.A631S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	631	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTCTGCTCACCTTGGCAGTTG	0.657																																					p.A631S		.											.	LAMA5-93	0			c.G1891T						.						36.0	37.0	36.0					20																	60913072		2195	4294	6489	SO:0001630	splice_region_variant	3911	exon14			GCTCACCTTGGCA	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1891+1G>T	20.37:g.60913072C>A		116	0		236	119	NM_005560	0	0	0	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215357	0.22373	.	.	ENSG00000130702	ENST00000252999	T	0.54279	0.58	5.14	4.19	0.49359	EGF-like, laminin (2);	0.178076	0.48767	D	0.000169	T	0.47154	0.1430	L	0.52266	1.64	0.80722	D	1	B	0.20459	0.045	B	0.21917	0.037	T	0.26815	-1.0092	9	.	.	.	.	13.9356	0.64023	0.1264:0.7618:0.1118:0.0	.	631	O15230	LAMA5_HUMAN	S	631	ENSP00000252999:A631S	.	A	-	1	0	LAMA5	60346467	0.517000	0.26226	0.549000	0.28204	0.010000	0.07245	1.159000	0.31749	0.565000	0.29255	-1.371000	0.01190	GCA	.		0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	Missense_Mutation
OGFR	11054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	61444261	61444261	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61444261G>T	ENST00000290291.6	+	7	1319	c.1294G>T	c.(1294-1296)Ggc>Tgc	p.G432C	OGFR_ENST00000370461.1_Missense_Mutation_p.G380C	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	432					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)					CCAGGAAGTGGGCGGTCAGGA	0.672																																					p.G432C		.											.	OGFR-68	0			c.G1294T						.						34.0	39.0	38.0					20																	61444261		2201	4299	6500	SO:0001583	missense	11054	exon7			GAAGTGGGCGGTC	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.1294G>T	20.37:g.61444261G>T	ENSP00000290291:p.Gly432Cys	56	0		123	32	NM_007346	0	0	0	0	0	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946725	0.34377	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.58358	1.27;0.34;0.69	2.58	1.61	0.23674	.	1.257190	0.05524	N	0.562667	T	0.53465	0.1798	L	0.40543	1.245	0.09310	N	1	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.56042	0.79;0.79;0.79	T	0.37079	-0.9721	10	0.62326	D	0.03	.	1.4566	0.02387	0.2185:0.164:0.4501:0.1674	.	432;415;432	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	C	432;432;432;287;380	ENSP00000290291:G432C;ENSP00000359499:G432C;ENSP00000359491:G380C	ENSP00000290291:G432C	G	+	1	0	OGFR	60914706	0.053000	0.20554	0.004000	0.12327	0.070000	0.16714	1.612000	0.36889	0.293000	0.22520	0.555000	0.69702	GGC	.		0.672	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
DIDO1	11083	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	61512594	61512594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61512594C>A	ENST00000266070.4	-	16	5039	c.4714G>T	c.(4714-4716)Gag>Tag	p.E1572*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E1572*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1572					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCTCCCCCTCACCGGTCTCA	0.726																																					p.E1572X	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	DIDO1-96	0			c.G4714T						.						14.0	19.0	17.0					20																	61512594		2043	4000	6043	SO:0001587	stop_gained	11083	exon16			CCCCCTCACCGGT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4714G>T	20.37:g.61512594C>A	ENSP00000266070:p.Glu1572*	18	0		42	9	NM_001193369	0	0	0	0	0	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	45	11.529958	0.99572	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	.	.	.	5.43	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-29.5468	6.4517	0.21908	0.0:0.5393:0.3485:0.1121	.	.	.	.	X	1572	.	ENSP00000266070:E1572X	E	-	1	0	DIDO1	60983039	0.883000	0.30277	0.010000	0.14722	0.011000	0.07611	3.563000	0.53784	0.618000	0.30179	0.467000	0.42956	GAG	.		0.726	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
YTHDF1	54915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	61834292	61834292	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61834292T>C	ENST00000370339.3	-	4	1341	c.1000A>G	c.(1000-1002)Aga>Gga	p.R334G	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R284G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	334							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GCCGCGTTTCTGTTGCGTGGG	0.647																																					p.R334G		.											.	YTHDF1-92	0			c.A1000G						.						32.0	35.0	34.0					20																	61834292		2203	4298	6501	SO:0001583	missense	54915	exon4			CGTTTCTGTTGCG	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1000A>G	20.37:g.61834292T>C	ENSP00000359364:p.Arg334Gly	62	0		72	21	NM_017798	0	0	0	0	0	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258418	0.23051	.	.	ENSG00000149658	ENST00000370339;ENST00000370333;ENST00000342761	T;T	0.58797	0.31;0.31	5.0	1.25	0.21368	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.61387	1.9	0.50467	D	0.999879	B	0.21147	0.052	B	0.27887	0.084	T	0.58725	-0.7586	10	0.87932	D	0	-32.5312	13.8967	0.63775	0.0:0.0:0.4107:0.5893	.	334	Q9BYJ9	YTHD1_HUMAN	G	334;284;150	ENSP00000359364:R334G;ENSP00000359358:R284G	ENSP00000339489:R150G	R	-	1	2	YTHDF1	61304737	1.000000	0.71417	0.067000	0.19924	0.633000	0.38033	0.964000	0.29306	0.217000	0.20800	0.472000	0.43445	AGA	.		0.647	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798	
BIRC7	79444	broad.mit.edu	37	20	61869765	61869765	+	Missense_Mutation	SNP	G	G	T	rs199795769		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61869765G>T	ENST00000217169.3	+	3	681	c.467G>T	c.(466-468)cGg>cTg	p.R156L	BIRC7_ENST00000342412.6_Missense_Mutation_p.R156L|MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000395306.1_Missense_Mutation_p.R69L|NKAIN4_ENST00000466885.1_5'Flank	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	156					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					TTCCTGCTCCGGTCAAAAGGA	0.627																																					p.R156L		.											.	BIRC7-659	0			c.G467T						.						62.0	68.0	66.0					20																	61869765		2203	4300	6503	SO:0001583	missense	79444	exon3			TGCTCCGGTCAAA	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.467G>T	20.37:g.61869765G>T	ENSP00000217169:p.Arg156Leu	38	1		46	10	NM_139317	0	0	0	0	0	Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	8.597	0.885857	0.17540	.	.	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.23147	4.0;4.0;1.92	3.83	-6.75	0.01738	Baculoviral inhibition of apoptosis protein repeat (2);	0.987677	0.08218	N	0.979604	T	0.12774	0.0310	N	0.24115	0.695	0.21675	N	0.999596	B;B;B	0.26635	0.146;0.155;0.133	B;B;B	0.20577	0.018;0.03;0.028	T	0.43861	-0.9365	10	0.05721	T	0.95	-13.1997	14.6351	0.68682	0.1906:0.0:0.8094:0.0	.	156;156;156	Q6R308;Q96CA5;Q96CA5-2	.;BIRC7_HUMAN;.	L	156;156;69	ENSP00000345213:R156L;ENSP00000217169:R156L;ENSP00000378717:R69L	ENSP00000217169:R156L	R	+	2	0	BIRC7	61340210	0.000000	0.05858	0.096000	0.21009	0.282000	0.26991	-1.221000	0.02968	-1.057000	0.03201	-0.648000	0.03929	CGG	.		0.627	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317	
BIRC7	79444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	61869820	61869820	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61869820G>T	ENST00000217169.3	+	3	736	c.522G>T	c.(520-522)ctG>ctT	p.L174L	BIRC7_ENST00000342412.6_Silent_p.L174L|MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000395306.1_Silent_p.L87L|NKAIN4_ENST00000466885.1_5'Flank	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	174					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CCCAGCTGCTGGGCTCCTGGG	0.617																																					p.L174L		.											.	BIRC7-659	0			c.G522T						.						59.0	62.0	61.0					20																	61869820		2203	4300	6503	SO:0001819	synonymous_variant	79444	exon3			GCTGCTGGGCTCC	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.522G>T	20.37:g.61869820G>T		72	0		88	42	NM_139317	0	0	0	0	0	Q9BQV0|Q9H2A8|Q9HAP7	Silent	SNP	ENST00000217169.3	37	CCDS13513.1																																																																																			.		0.617	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317	
ARFGAP1	55738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	61919061	61919061	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:61919061G>A	ENST00000370283.4	+	13	1197	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	ARFGAP1_ENST00000547204.1_Missense_Mutation_p.D287N|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.D361N|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.D240N|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.D308N|ARFGAP1_ENST00000370275.4_3'UTR	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	353					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GACGTGCGCGGACACCTCCAC	0.652																																					p.D361N		.											.	ARFGAP1-91	0			c.G1081A						.						31.0	31.0	31.0					20																	61919061		2196	4296	6492	SO:0001583	missense	55738	exon14			TGCGCGGACACCT	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.1057G>A	20.37:g.61919061G>A	ENSP00000359306:p.Asp353Asn	125	0		167	39	NM_175609	0	0	0	0	0	B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660465	0.67586	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000523460;ENST00000519604;ENST00000519273;ENST00000353546	T;T;T;T;T	0.55930	1.12;0.63;0.64;0.49;1.31	4.95	4.0	0.46444	.	0.184566	0.37393	N	0.002103	T	0.58524	0.2128	L	0.57536	1.79	0.50632	D	0.999882	P;P;P;P	0.49559	0.925;0.917;0.857;0.912	P;P;P;P	0.52646	0.616;0.51;0.51;0.705	T	0.55970	-0.8056	10	0.27082	T	0.32	-10.0205	13.6799	0.62476	0.0755:0.0:0.9245:0.0	.	240;308;353;361	B7Z8H8;E7EV62;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	N	353;287;109;308;240;361	ENSP00000359306:D353N;ENSP00000449800:D287N;ENSP00000430500:D308N;ENSP00000443716:D240N;ENSP00000314615:D361N	ENSP00000314615:D361N	D	+	1	0	ARFGAP1	61389506	1.000000	0.71417	0.005000	0.12908	0.195000	0.23768	6.486000	0.73629	1.207000	0.43291	0.462000	0.41574	GAC	.		0.652	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209	
TPTE	7179	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	21	10920084	10920084	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:10920084C>A	ENST00000361285.4	-	19	1499	c.1170G>T	c.(1168-1170)caG>caT	p.Q390H	TPTE_ENST00000342420.5_Splice_Site_p.Q352H|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Splice_Site_p.Q372H	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	390	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Q372H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAAACTTACCTGAGAAGGAG	0.378																																					p.Q390H		.											.	TPTE-344	1	Substitution - Missense(1)	lung(1)	c.G1170T						.						68.0	68.0	68.0					21																	10920084		2202	4300	6502	SO:0001630	splice_region_variant	7179	exon19			ACTTACCTGAGAA	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1170+1G>T	21.37:g.10920084C>A		36	0		19	7	NM_199261	0	0	0	0	0	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.59	1.393761	0.25205	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99462	-5.94;-5.94;-5.94	2.32	1.41	0.22369	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.99187	1.0869	9	.	.	.	-18.4997	4.892	0.13731	0.0:0.8108:0.0:0.1892	.	352;372;390	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	H	372;390;352	ENSP00000298232:Q372H;ENSP00000355208:Q390H;ENSP00000344441:Q352H	.	Q	-	3	2	TPTE	9941955	1.000000	0.71417	0.994000	0.49952	0.320000	0.28249	2.807000	0.47955	0.317000	0.23160	0.184000	0.17185	CAG	.		0.378	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation
TPTE	7179	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	10944670	10944670	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:10944670G>T	ENST00000361285.4	-	11	893	c.564C>A	c.(562-564)ccC>ccA	p.P188P	TPTE_ENST00000342420.5_Silent_p.P150P|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Silent_p.P170P	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	188					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCATACCTGGGAATATTCC	0.289																																					p.P188P		.											.	TPTE-344	0			c.C564A						.						142.0	159.0	153.0					21																	10944670		2203	4298	6501	SO:0001819	synonymous_variant	7179	exon11			ATACCTGGGAATA	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.564C>A	21.37:g.10944670G>T		359	0		304	29	NM_199261	0	0	0	0	0	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	CCDS13560.2																																																																																			.		0.289	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
BAGE2	85319	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	11058188	11058188	+	RNA	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:11058188C>A	ENST00000470054.1	-	0	459							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAATGTGTTCTGGACAAAGC	0.388																																					p.Q84H		.											.	.	0			c.G252T						.						95.0	77.0	82.0					21																	11058188		692	1591	2283			85319	exon3			TGTGTTCTGGACA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058188C>A		249	0		220	22	NM_182482	0	0	0	0	0	A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37																																																																																				.		0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482	
GRIK1	2897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	31311813	31311813	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:31311813C>G	ENST00000399907.1	-	1	417	c.6G>C	c.(4-6)gaG>gaC	p.E2D	GRIK1_ENST00000399914.1_Missense_Mutation_p.E2D|GRIK1_ENST00000535441.1_Missense_Mutation_p.E2D|GRIK1_ENST00000389125.3_Missense_Mutation_p.E2D|GRIK1_ENST00000309434.7_Missense_Mutation_p.E2D|GRIK1_ENST00000399913.1_Missense_Mutation_p.E2D|GRIK1_ENST00000389124.2_Missense_Mutation_p.E2D|GRIK1_ENST00000327783.4_Missense_Mutation_p.E2D|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.E2D	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	2					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTGTGCCGTGCTCCATCTTCC	0.627																																					p.E2D		.											.	GRIK1-137	0			c.G6C						.						94.0	73.0	80.0					21																	31311813		2203	4300	6503	SO:0001583	missense	2897	exon1			GCCGTGCTCCATC		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.6G>C	21.37:g.31311813C>G	ENSP00000382791:p.Glu2Asp	79	0		99	69	NM_175611	0	0	0	0	0	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516518	0.44763	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.11930	2.73;2.78;2.79;2.73;2.79;2.74;2.77;2.77;2.77	4.03	4.03	0.46877	.	0.546269	0.14883	N	0.292824	T	0.09335	0.0230	N	0.14661	0.345	0.23416	N	0.997724	B;B;B;B;B	0.17667	0.023;0.005;0.023;0.005;0.009	B;B;B;B;B	0.11329	0.004;0.003;0.004;0.003;0.006	T	0.16512	-1.0400	10	0.62326	D	0.03	.	11.9726	0.53071	0.0:1.0:0.0:0.0	.	2;2;2;2;2	E7EPY9;E9PD61;B7Z3V7;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	D	2	ENSP00000327687:E2D;ENSP00000373777:E2D;ENSP00000382797:E2D;ENSP00000382798:E2D;ENSP00000446326:E2D;ENSP00000373776:E2D;ENSP00000382791:E2D;ENSP00000382793:E2D;ENSP00000311646:E2D	ENSP00000311646:E2D	E	-	3	2	GRIK1	30233684	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.459000	0.53021	2.522000	0.85027	0.462000	0.41574	GAG	.		0.627	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
KRTAP24-1	643803	broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	31655215	31655215	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:31655215A>T	ENST00000340345.4	-	1	61	c.36T>A	c.(34-36)ccT>ccA	p.P12P		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	12						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGCAGACACCAGGATAGCCTG	0.488																																					p.P12P		.											.	KRTAP24-1-68	0			c.T36A						.						40.0	41.0	41.0					21																	31655215		2014	4187	6201	SO:0001819	synonymous_variant	643803	exon1			GACACCAGGATAG	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.36T>A	21.37:g.31655215A>T		219	2		276	181	NM_001085455	0	0	0	0	0	Q1XDX0	Silent	SNP	ENST00000340345.4	37	CCDS42915.1																																																																																			.		0.488	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455	
KRTAP13-3	337960	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	31797786	31797786	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:31797786G>C	ENST00000390690.2	-	1	500	c.445C>G	c.(445-447)Cca>Gca	p.P149A		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	149						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AAATAGATTGGATGGCAGAAT	0.433																																					p.P149A		.											.	KRTAP13-3-92	0			c.C445G						.						56.0	55.0	55.0					21																	31797786		1926	4162	6088	SO:0001583	missense	337960	exon1			AGATTGGATGGCA	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.445C>G	21.37:g.31797786G>C	ENSP00000375109:p.Pro149Ala	116	0		111	83	NM_181622	0	0	0	0	0	Q3LI78	Missense_Mutation	SNP	ENST00000390690.2	37	CCDS13591.1	.	.	.	.	.	.	.	.	.	.	g	12.68	2.011976	0.35511	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.10573	2.86	4.03	1.22	0.21188	.	0.175309	0.26742	U	0.022739	T	0.23014	0.0556	M	0.82132	2.575	0.09310	N	1	D	0.58970	0.984	P	0.56612	0.802	T	0.04467	-1.0949	10	0.87932	D	0	0.0569	6.4079	0.21674	0.3125:0.0:0.6875:0.0	.	149	Q3SY46	KR133_HUMAN	A	149;139	ENSP00000375109:P149A	ENSP00000375109:P149A	P	-	1	0	KRTAP13-3	30719657	0.279000	0.24239	0.003000	0.11579	0.002000	0.02628	1.615000	0.36922	0.290000	0.22444	-0.257000	0.10917	CCA	.		0.433	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2		
KRTAP11-1	337880	ucsc.edu;bcgsc.ca	37	21	32253540	32253540	+	Silent	SNP	G	G	T	rs375660290		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:32253540G>T	ENST00000332378.4	-	1	334	c.304C>A	c.(304-306)Cgg>Agg	p.R102R		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	102						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GTGAGCGGCCGGCTGTAGGTA	0.562																																					p.R102R		.											.	KRTAP11-1-91	0			c.C304A						.						75.0	76.0	76.0					21																	32253540		2203	4300	6503	SO:0001819	synonymous_variant	337880	exon1			GCGGCCGGCTGTA	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.304C>A	21.37:g.32253540G>T		289	3		363	261	NM_175858	0	0	0	0	0	A1L4I8	Silent	SNP	ENST00000332378.4	37	CCDS13608.1																																																																																			.		0.562	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1		
RIPPLY3	53820	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	38385914	38385914	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:38385914G>T	ENST00000329553.2	+	3	445	c.235G>T	c.(235-237)Gta>Tta	p.V79L	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	79	Ripply homology domain.				heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V79L(1)									TCAGCATCCTGTAAGGTAATA	0.388																																					p.V79L		.											.	DSCR6-153	1	Substitution - Missense(1)	kidney(1)	c.G235T						.						108.0	89.0	95.0					21																	38385914		2203	4300	6503	SO:0001583	missense	53820	exon3			CATCCTGTAAGGT	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.235G>T	21.37:g.38385914G>T	ENSP00000331734:p.Val79Leu	85	0		109	81	NM_018962	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329553.2	37	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021125	0.75275	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.49	4.49	0.54785	.	0.184400	0.33005	N	0.005385	T	0.78666	0.4319	M	0.80332	2.49	0.45295	D	0.998292	D	0.76494	0.999	D	0.80764	0.994	T	0.81583	-0.0866	9	0.72032	D	0.01	-6.5541	13.4335	0.61071	0.0:0.0:1.0:0.0	.	79	P57055	DSCR6_HUMAN	L	79	.	ENSP00000331734:V79L	V	+	1	0	DSCR6	37307784	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.150000	0.50662	2.433000	0.82419	0.462000	0.41574	GTA	.		0.388	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1		
DSCAM	1826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	41719682	41719682	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:41719682C>A	ENST00000400454.1	-	6	1602	c.1125G>T	c.(1123-1125)atG>atT	p.M375I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	375	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACTTTTGACCATGTGATCCA	0.512																																					p.M375I	Melanoma(134;970 1778 1785 21664 32388)	.											.	DSCAM-101	0			c.G1125T						.						310.0	281.0	291.0					21																	41719682		1976	4154	6130	SO:0001583	missense	1826	exon6			TTTGACCATGTGA	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1125G>T	21.37:g.41719682C>A	ENSP00000383303:p.Met375Ile	158	0		152	115	NM_001271534	0	0	0	0	0	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279115	0.80692	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.62498	0.02;0.02	5.1	5.1	0.69264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	N	0.20881	0.62	0.53005	D	0.999963	B	0.33299	0.407	B	0.43728	0.429	T	0.58967	-0.7542	10	0.36615	T	0.2	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	375	O60469	DSCAM_HUMAN	I	375;127	ENSP00000383303:M375I;ENSP00000385342:M127I	ENSP00000383303:M375I	M	-	3	0	DSCAM	40641552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.904000	0.69886	2.344000	0.79699	0.655000	0.94253	ATG	.		0.512	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
WDR4	10785	bcgsc.ca	37	21	44296862	44296862	+	Silent	SNP	G	G	C	rs373268616		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:44296862G>C	ENST00000398208.2	-	2	164	c.105C>G	c.(103-105)ctC>ctG	p.L35L	WDR4_ENST00000330317.2_Silent_p.L35L|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CATAGATGAAGAGGCTGTCAT	0.358																																					p.L35L		.											.	WDR4-91	0			c.C105G						.						92.0	85.0	87.0					21																	44296862		2203	4300	6503	SO:0001819	synonymous_variant	10785	exon2			GATGAAGAGGCTG	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.105C>G	21.37:g.44296862G>C		35	1		28	19	NM_018669	0	0	0	0	0		Silent	SNP	ENST00000398208.2	37	CCDS13691.1																																																																																			.		0.358	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1		
TRPM2	7226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	45795727	45795727	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:45795727C>T	ENST00000397928.1	+	6	1228	c.783C>T	c.(781-783)ccC>ccT	p.P261P	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.P261P|TRPM2_ENST00000300482.5_Silent_p.P261P|TRPM2_ENST00000397932.2_Silent_p.P261P	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	261					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCAGCTTCCCCGCCGAGTACA	0.607																																					p.P261P		.											.	TRPM2-92	0			c.C783T						.						78.0	65.0	69.0					21																	45795727		2203	4300	6503	SO:0001819	synonymous_variant	7226	exon6			CTTCCCCGCCGAG	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.783C>T	21.37:g.45795727C>T		133	0		161	120	NM_003307	0	0	0	0	0	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																			.		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
TRPM2	7226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	45845667	45845667	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:45845667C>A	ENST00000397928.1	+	25	4197	c.3752C>A	c.(3751-3753)cCt>cAt	p.P1251H	TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.P1231H|TRPM2_ENST00000300482.5_Missense_Mutation_p.P1251H|TRPM2_ENST00000397932.2_Missense_Mutation_p.P1301H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1251					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCAACTGCCCTGTCACGCGC	0.706																																					p.P1251H		.											.	TRPM2-92	0			c.C3752A						.						32.0	32.0	32.0					21																	45845667		2200	4299	6499	SO:0001583	missense	7226	exon25			ACTGCCCTGTCAC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3752C>A	21.37:g.45845667C>A	ENSP00000381023:p.Pro1251His	108	0		259	171	NM_003307	0	0	0	0	0	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	0.391	-0.923596	0.02377	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	3.66	0.498	0.16908	NUDIX hydrolase domain-like (1);	0.822754	0.10885	N	0.623305	T	0.52725	0.1752	N	0.16478	0.41	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.36089	-0.9762	10	0.41790	T	0.15	-2.1465	2.9655	0.05907	0.4776:0.3025:0.1232:0.0967	.	1301;1037;1251	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	1251;1251;1231;1301;29	ENSP00000300482:P1251H;ENSP00000381023:P1251H;ENSP00000300481:P1231H;ENSP00000381026:P1301H	ENSP00000300481:P1231H	P	+	2	0	TRPM2	44670095	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.366000	0.07563	-0.150000	0.11195	0.313000	0.20887	CCT	.		0.706	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
TSPEAR	54084	ucsc.edu;bcgsc.ca	37	21	45987802	45987802	+	Missense_Mutation	SNP	C	C	A	rs151001222	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:45987802C>A	ENST00000323084.4	-	2	235	c.170G>T	c.(169-171)cGg>cTg	p.R57L	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	57					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTGGAGTCCCCGTGCACCGTG	0.587																																					p.R57L		.											.	TSPEAR-244	0			c.G170T						.						71.0	68.0	69.0					21																	45987802		2203	4300	6503	SO:0001583	missense	54084	exon2			AGTCCCCGTGCAC	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.170G>T	21.37:g.45987802C>A	ENSP00000321987:p.Arg57Leu	139	2		189	150	NM_144991	0	0	0	0	0		Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	c	7.854	0.724715	0.15439	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000341581	T	0.02158	4.42	4.68	2.83	0.33086	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.252024	0.38897	N	0.001530	T	0.03783	0.0107	M	0.74881	2.28	0.45867	D	0.998726	B	0.17667	0.023	B	0.17722	0.019	T	0.32666	-0.9898	10	0.37606	T	0.19	-19.6951	8.1312	0.31029	0.1576:0.757:0.0:0.0854	.	57	Q8WU66	TSEAR_HUMAN	L	57	ENSP00000321987:R57L	ENSP00000321987:R57L	R	-	2	0	TSPEAR	44812230	0.538000	0.26394	0.224000	0.23877	0.215000	0.24574	1.360000	0.34125	0.379000	0.24794	0.591000	0.81541	CGG	C|0.998;T|0.002		0.587	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
KRTAP10-9	386676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	46047799	46047799	+	Silent	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:46047799T>G	ENST00000397911.3	+	1	760	c.711T>G	c.(709-711)ccT>ccG	p.P237P	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	237	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TCTGCCGCCCTGTGTGCAGGC	0.687																																					p.P237P		.											.	.	0			c.T711G						.						90.0	109.0	102.0					21																	46047799		2203	4300	6503	SO:0001819	synonymous_variant	386676	exon1			CCGCCCTGTGTGC	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.711T>G	21.37:g.46047799T>G		97	0		189	144	NM_198690	0	0	0	0	0	A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	CCDS42961.1																																																																																			.		0.687	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1		
C21orf67	84536	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	46354995	46354995	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:46354995C>A	ENST00000397841.1	-	3	601	c.356G>T	c.(355-357)aGg>aTg	p.R119M	C21orf67_ENST00000330551.3_Missense_Mutation_p.R116M|LL21NC02-1C16.2_ENST00000609953.1_RNA					chromosome 21 open reading frame 67											breast(1)	1						GCAGCATCCCCTCTCGTGGCA	0.597																																					.		.											.	.	0			.						.						16.0	22.0	20.0					21																	46354995		691	1591	2282	SO:0001583	missense	84536	.			CATCCCCTCTCGT	AY040088		21q22.3	2013-01-15			ENSG00000183250	ENSG00000183250			15707	other	unknown			"""chromosome 21 open reading frame 69"""	C21orf69		11707072	Standard	NR_027128		Approved		uc011afm.2	P58512	OTTHUMG00000090294	ENST00000397841.1:c.356G>T	21.37:g.46354995C>A	ENSP00000380941:p.Arg119Met	90	1		75	58	.	0	0	0	0	0		RNA	SNP	ENST00000397841.1	37		.	.	.	.	.	.	.	.	.	.	C	7.029	0.560144	0.13498	.	.	ENSG00000183250	ENST00000397841;ENST00000330551	.	.	.	0.637	0.637	0.17735	.	.	.	.	.	T	0.55625	0.1932	.	.	.	0.09310	N	1	D;D	0.58970	0.984;0.984	D;D	0.63877	0.919;0.919	T	0.42224	-0.9464	6	0.87932	D	0	.	.	.	.	.	119;116	P58512-3;P58512	.;CU067_HUMAN	M	119;116	.	ENSP00000331610:R116M	R	-	2	0	C21orf67	45179423	0.007000	0.16637	0.017000	0.16124	0.007000	0.05969	0.560000	0.23500	0.608000	0.30000	0.462000	0.41574	AGG	.		0.597	C21orf67-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000206644.1	NR_027128	
COL6A1	1291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	47423043	47423043	+	Missense_Mutation	SNP	G	G	T	rs536370523		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:47423043G>T	ENST00000361866.3	+	34	2558	c.2444G>T	c.(2443-2445)tGt>tTt	p.C815F	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	815	C-terminal globular domain.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GACAAGAAGTGTCCAGATTAC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		15215	0.0		0.001	False		,,,				2504	0.0				p.C815F		.											.	COL6A1-91	0			c.G2444T						.						79.0	78.0	79.0					21																	47423043		2203	4300	6503	SO:0001583	missense	1291	exon34			AGAAGTGTCCAGA	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2444G>T	21.37:g.47423043G>T	ENSP00000355180:p.Cys815Phe	121	0		184	125	NM_001848	0	0	0	0	0	O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202210	0.58234	.	.	ENSG00000142156	ENST00000361866	D	0.90788	-2.73	4.54	4.54	0.55810	.	0.121175	0.56097	D	0.000022	D	0.91915	0.7440	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	D	0.91868	0.5505	10	0.40728	T	0.16	-11.6256	17.297	0.87172	0.0:0.0:1.0:0.0	.	815	P12109	CO6A1_HUMAN	F	815	ENSP00000355180:C815F	ENSP00000355180:C815F	C	+	2	0	COL6A1	46247471	1.000000	0.71417	0.999000	0.59377	0.663000	0.39108	8.067000	0.89488	2.079000	0.62486	0.471000	0.43371	TGT	.		0.627	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	
PCNT	5116	broad.mit.edu	37	21	47831434	47831434	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:47831434C>A	ENST00000359568.5	+	28	5554	c.5447C>A	c.(5446-5448)gCc>gAc	p.A1816D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1816					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CACAGCCAGGCCCTGGAGGCC	0.706																																					p.A1816D		.											.	PCNT-141	0			c.C5447A						.						8.0	11.0	10.0					21																	47831434		2125	4213	6338	SO:0001583	missense	5116	exon28			GCCAGGCCCTGGA	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5447C>A	21.37:g.47831434C>A	ENSP00000352572:p.Ala1816Asp	23	0		66	6	NM_006031	0	0	0	0	0	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574208	0.65878	.	.	ENSG00000160299	ENST00000359568	T	0.01572	4.76	5.79	3.8	0.43715	.	0.000000	0.32190	N	0.006460	T	0.04272	0.0118	L	0.34521	1.04	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.51156	-0.8741	10	0.18710	T	0.47	.	12.1547	0.54070	0.2978:0.7022:0.0:0.0	.	1698;1816	O95613-2;O95613	.;PCNT_HUMAN	D	1816	ENSP00000352572:A1816D	ENSP00000352572:A1816D	A	+	2	0	PCNT	46655862	0.477000	0.25909	1.000000	0.80357	0.855000	0.48748	0.786000	0.26844	2.739000	0.93911	0.563000	0.77884	GCC	.		0.706	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
CLTCL1	8218	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	19220842	19220842	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:19220842C>A	ENST00000263200.10	-	9	1441		c.e9-1		CLTCL1_ENST00000427926.1_Splice_Site|CLTCL1_ENST00000353891.5_Splice_Site	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1						anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGCACTCCAGCTGTGGTATGC	0.552			T	?	ALCL																																.		.		Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	CLTCL1-230	0			c.1369-1G>T						.						67.0	67.0	67.0					22																	19220842		2012	4158	6170	SO:0001630	splice_region_variant	8218	exon10			CTCCAGCTGTGGT		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1369-1G>T	22.37:g.19220842C>A		81	1		89	68	NM_001835	0	0	0	0	0	B7Z7U5|Q14017|Q15808|Q15809	Splice_Site	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452246	0.63290	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4728	0.84119	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLTCL1	17600842	1.000000	0.71417	0.981000	0.43875	0.764000	0.43329	6.850000	0.75420	2.177000	0.69029	0.591000	0.81541	.	.		0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	Intron
LZTR1	8216	broad.mit.edu	37	22	21343966	21344002	+	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs138025454|rs4822786|rs372705680|rs544346603|rs7410444|rs398036571|rs541944601|rs550797478|rs59718704	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	ENST00000215739.8	+	7	1005_1010	c.646_651delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	c.(646-651)gaggagdel	p.EE216fs	LZTR1_ENST00000389355.3_Splice_Site_p.EE197fs|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	216					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACCTGCTgggaggaggtgaggggcgtggggagccagggcgcaggtagaggaggtga	0.662														897	0.179113	0.1354	0.1859	5008	,	,		20879	0.2907		0.166	False		,,,				2504	0.1319				p.216_217del		.											.	LZTR1-280	0			c.646_651del						.																																			SO:0001630	splice_region_variant	8216	exon7			TGCTGGGAGGAGG	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.651+1GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	22.37:g.21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA		41	0		43	9	NM_006767	0	0	0	0	0	Q14776|Q20WK0	In_Frame_Del	DEL	ENST00000215739.8	37	CCDS33606.1																																																																																			.		0.662	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Frame_Shift_Del
PRAME	23532	ucsc.edu;bcgsc.ca	37	22	22890510	22890510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:22890510G>T	ENST00000398741.1	-	6	1815	c.1509C>A	c.(1507-1509)tgC>tgA	p.C503*	PRAME_ENST00000424204.2_Nonsense_Mutation_p.C487*|PRAME_ENST00000543184.1_Nonsense_Mutation_p.C503*|PRAME_ENST00000539862.1_Nonsense_Mutation_p.C487*|PRAME_ENST00000398743.2_Nonsense_Mutation_p.C503*|PRAME_ENST00000402697.1_Nonsense_Mutation_p.C503*|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000405655.3_Nonsense_Mutation_p.C503*	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	503	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGAAACAGGGGCACAGGATGG	0.527																																					p.C503X	Melanoma(73;1707 1838 15168 27201)	.											.	PRAME-515	0			c.C1509A						.						165.0	159.0	161.0					22																	22890510		2203	4300	6503	SO:0001587	stop_gained	23532	exon6			ACAGGGGCACAGG	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1509C>A	22.37:g.22890510G>T	ENSP00000381726:p.Cys503*	126	2		122	79	NM_206954	0	0	0	0	0	B2R6Y7|O43481|Q8IXN8	Nonsense_Mutation	SNP	ENST00000398741.1	37	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983593	0.93044	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	.	.	.	3.67	1.34	0.21922	.	0.190146	0.35646	N	0.003065	.	.	.	.	.	.	0.25665	N	0.985958	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3306	0.11062	0.1474:0.2253:0.6272:0.0	.	.	.	.	X	503;503;503;503;487;503;487	.	ENSP00000381726:C503X	C	-	3	2	PRAME	21220510	0.988000	0.35896	0.970000	0.41538	0.168000	0.22595	-0.010000	0.12743	0.419000	0.25927	-0.189000	0.12847	TGC	.		0.527	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953	
PRAME	23532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	22890729	22890729	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:22890729G>T	ENST00000398741.1	-	6	1596	c.1290C>A	c.(1288-1290)ctC>ctA	p.L430L	PRAME_ENST00000424204.2_Silent_p.L414L|PRAME_ENST00000543184.1_Silent_p.L430L|PRAME_ENST00000539862.1_Silent_p.L414L|PRAME_ENST00000398743.2_Silent_p.L430L|PRAME_ENST00000402697.1_Silent_p.L430L|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000405655.3_Silent_p.L430L	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	430	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCAGCCCGATGAGGTGCTGCA	0.562																																					p.L430L	Melanoma(73;1707 1838 15168 27201)	.											.	PRAME-515	0			c.C1290A						.						106.0	94.0	98.0					22																	22890729		2203	4300	6503	SO:0001819	synonymous_variant	23532	exon6			CCCGATGAGGTGC	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1290C>A	22.37:g.22890729G>T		50	0		70	40	NM_206954	0	0	0	0	0	B2R6Y7|O43481|Q8IXN8	Silent	SNP	ENST00000398741.1	37	CCDS13801.1																																																																																			.		0.562	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953	
IGLL3P	91353	ucsc.edu;bcgsc.ca;mdanderson.org	37	22	25714246	25714246	+	IGR	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:25714246T>G								RP3-462D8.2 (35988 upstream) : LRP5L (33141 downstream)																							CCAGCGCGGCTCCTGGACTGG	0.622																																					.		.											.	IGLL3P-91	0			.						.						62.0	61.0	62.0					22																	25714246		2201	4300	6501	SO:0001628	intergenic_variant	91353	.			CGCGGCTCCTGGA																													22.37:g.25714246T>G		121	0		162	110	.	0	0	0	0	0		RNA	SNP		37																																																																																				.	0	0.622								
MYO18B	84700	ucsc.edu;bcgsc.ca	37	22	26164759	26164759	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:26164759G>T	ENST00000407587.2	+	4	1045	c.876G>T	c.(874-876)acG>acT	p.T292T	MYO18B_ENST00000536101.1_Silent_p.T292T|MYO18B_ENST00000335473.7_Silent_p.T292T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	292						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACAAACACGGTGGAAAAGG	0.607																																					p.T292T		.											.	MYO18B-142	0			c.G876T						.						21.0	24.0	23.0					22																	26164759		1976	4153	6129	SO:0001819	synonymous_variant	84700	exon4			AAACACGGTGGAA	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.876G>T	22.37:g.26164759G>T		161	3		146	92	NM_032608	0	0	0	0	0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37																																																																																				.		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
MYO18B	84700	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	26422797	26422797	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:26422797C>A	ENST00000407587.2	+	43	7029	c.6860C>A	c.(6859-6861)gCc>gAc	p.A2287D	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2286D|MYO18B_ENST00000335473.7_Missense_Mutation_p.A2286D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2286						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACGACTGGGGCCTCCACACTA	0.642																																					p.A2286D		.											.	MYO18B-142	0			c.C6857A						.						17.0	21.0	20.0					22																	26422797		1892	4101	5993	SO:0001583	missense	84700	exon43			CTGGGGCCTCCAC	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6860C>A	22.37:g.26422797C>A	ENSP00000386096:p.Ala2287Asp	130	1		101	68	NM_032608	0	0	0	0	0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.55|18.55	3.649307|3.649307	0.67358|0.67358	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.93488|.	-3.21;-3.21;-3.23|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.000000|.	0.48767|.	D|.	0.000177|.	T|T	0.72622|0.72622	0.3483|0.3483	M|M	0.66939|0.66939	2.045|2.045	0.44937|0.44937	D|D	0.997958|0.997958	D;D;D;D;D|.	0.63046|.	0.985;0.986;0.986;0.992;0.992|.	P;P;P;D;D|.	0.64410|.	0.893;0.843;0.843;0.925;0.925|.	T|T	0.72918|0.72918	-0.4146|-0.4146	10|5	0.87932|.	D|.	0|.	.|.	16.1157|16.1157	0.81304|0.81304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1799;2288;2286;2287;2286|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|T	2286;2286;2287|236	ENSP00000441229:A2286D;ENSP00000334563:A2286D;ENSP00000386096:A2287D|.	ENSP00000334563:A2286D|.	A|P	+|+	2|1	0|0	MYO18B|MYO18B	24752797|24752797	0.995000|0.995000	0.38212|0.38212	0.922000|0.922000	0.36590|0.36590	0.593000|0.593000	0.36681|0.36681	3.775000|3.775000	0.55349|0.55349	2.152000|2.152000	0.67230|0.67230	0.313000|0.313000	0.20887|0.20887	GCC|CCT	.		0.642	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
SEZ6L	23544	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	26761520	26761520	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:26761520C>G	ENST00000248933.6	+	13	2877	c.2782C>G	c.(2782-2784)Ccc>Gcc	p.P928A	SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P701A|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P864A|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.P125A|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P928A|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P928A|SEZ6L_ENST00000343706.4_Intron			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	928	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGGGCCCCTGCCCGTGTGTAA	0.557																																					p.P928A		.											.	SEZ6L-95	0			c.C2782G						.						59.0	55.0	56.0					22																	26761520		2203	4300	6503	SO:0001583	missense	23544	exon13			CCCCTGCCCGTGT	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2782C>G	22.37:g.26761520C>G	ENSP00000248933:p.Pro928Ala	93	1		117	81	NM_021115	0	0	0	0	0	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230561	0.58777	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000402979;ENST00000411842	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000040	D	0.89801	0.6820	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999	D	0.91160	0.4960	10	0.87932	D	0	.	18.0747	0.89423	0.0:1.0:0.0:0.0	.	928;928;864;928;928	B7ZLJ8;B7ZLJ6;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;SE6L1_HUMAN	A	928;928;864;928;701;125	ENSP00000384772:P928A;ENSP00000437037:P928A;ENSP00000354185:P864A;ENSP00000248933:P928A;ENSP00000384733:P701A;ENSP00000397274:P125A	ENSP00000248933:P928A	P	+	1	0	SEZ6L	25091520	1.000000	0.71417	0.999000	0.59377	0.115000	0.19883	7.096000	0.76960	2.735000	0.93741	0.655000	0.94253	CCC	.		0.557	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
MN1	4330	hgsc.bcm.edu	37	22	28196123	28196123	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:28196123C>A	ENST00000302326.4	-	1	1363	c.409G>T	c.(409-411)Ggc>Tgc	p.G137C		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	137					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCTGCGCCGCCGTAGCCGAGC	0.721			T	ETV6	"""AML, meningioma"""																																p.G137C		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	.	MN1-993	0			c.G409T						.						4.0	5.0	5.0					22																	28196123		1358	3336	4694	SO:0001583	missense	4330	exon1			CGCCGCCGTAGCC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.409G>T	22.37:g.28196123C>A	ENSP00000304956:p.Gly137Cys	1	0		13	11	NM_002430	0	0	0	0	0	A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097416	0.56075	.	.	ENSG00000169184	ENST00000302326	T	0.63255	-0.03	4.96	3.94	0.45596	.	0.207947	0.42053	D	0.000774	T	0.57607	0.2065	N	0.14661	0.345	0.32188	N	0.579459	D	0.76494	0.999	D	0.65773	0.938	T	0.62959	-0.6743	10	0.44086	T	0.13	-9.0892	6.7211	0.23330	0.0:0.7158:0.0:0.2842	.	137	Q10571	MN1_HUMAN	C	137	ENSP00000304956:G137C	ENSP00000304956:G137C	G	-	1	0	MN1	26526123	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.609000	0.46317	1.223000	0.43536	0.561000	0.74099	GGC	.		0.721	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430	
TTC28	23331	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	28559432	28559432	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:28559432C>T	ENST00000397906.2	-	6	1230	c.1089G>A	c.(1087-1089)gtG>gtA	p.V363V		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	363					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						TGGCAATATACACAGCTCCCA	0.512																																					p.V363V		.											.	.	0			c.G1089A						.						109.0	97.0	101.0					22																	28559432		692	1591	2283	SO:0001819	synonymous_variant	23331	exon6			AATATACACAGCT	AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.1089G>A	22.37:g.28559432C>T		128	0		125	74	NM_001145418	0	0	0	0	0	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Silent	SNP	ENST00000397906.2	37	CCDS46678.1																																																																																			.		0.512	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000320930.2	XM_929318	
AP1B1	162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	29745300	29745300	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:29745300C>A	ENST00000405198.1	-	10	1375	c.1344G>T	c.(1342-1344)atG>atT	p.M448I	AP1B1_ENST00000357586.2_Missense_Mutation_p.M448I|AP1B1_ENST00000402502.1_Missense_Mutation_p.M448I|AP1B1_ENST00000317368.7_Missense_Mutation_p.M448I|AP1B1_ENST00000356015.2_Missense_Mutation_p.M448I|AP1B1_ENST00000415447.1_Missense_Mutation_p.M448I|AP1B1_ENST00000432560.2_Missense_Mutation_p.M448I			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	448					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)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAATCCAGATCATGGCAGCCC	0.587																																					p.M448I		.											.	AP1B1-92	0			c.G1344T						.						110.0	96.0	101.0					22																	29745300		2203	4300	6503	SO:0001583	missense	162	exon11			CCAGATCATGGCA	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1344G>T	22.37:g.29745300C>A	ENSP00000384194:p.Met448Ile	103	0		73	47	NM_001127	0	0	0	0	0	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	CCDS13855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.134432|4.134432	0.77662|0.77662	.|.	.|.	ENSG00000100280|ENSG00000100280	ENST00000415756|ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	.|T;T;T;T;T;T;T;T	.|0.10960	.|2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.20981|0.20981	0.0505|0.0505	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;B;B;D;P	.|0.58268	.|0.859;0.029;0.029;0.982;0.737	.|P;B;B;P;P	.|0.61397	.|0.888;0.011;0.011;0.816;0.525	T|T	0.00688|0.00688	-1.1609|-1.1609	5|10	.|0.46703	.|T	.|0.11	-44.4877|-44.4877	19.2884|19.2884	0.94089|0.94089	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1;448;448;448;448	.|B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.|.;.;.;AP1B1_HUMAN;.	Y|I	161|448	.|ENSP00000350199:M448I;ENSP00000348297:M448I;ENSP00000400065:M448I;ENSP00000384194:M448I;ENSP00000319361:M448I;ENSP00000386071:M448I;ENSP00000387612:M448I;ENSP00000400022:M448I	.|ENSP00000319361:M448I	D|M	-|-	1|3	0|0	AP1B1|AP1B1	28075300|28075300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.666000|2.666000	0.90696|0.90696	0.655000|0.655000	0.94253|0.94253	GAT|ATG	.		0.587	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127	
NEFH	4744	hgsc.bcm.edu	37	22	29885581	29885604	+	In_Frame_Del	DEL	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs79235463|rs200984527|rs370803228	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENST00000310624.6	+	4	1985_2008	c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	c.(1951-1977)aaggccaagtccccagagaaggaagag>aag	p.AKSPEKEE652del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTC	0.562																																					p.651_659del		.											.	NEFH-90	0			c.1952_1975del						.																																			SO:0001651	inframe_deletion	4744	exon4			CTGAGAAGGCCAA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	22.37:g.29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENSP00000311997:p.Ala652_Glu659del	268	0		261	89	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
NEFH	4744	broad.mit.edu	37	22	29885599	29885604	+	In_Frame_Del	DEL	AGGAAG	AGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs200984527|rs370803228		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:29885599_29885604delAGGAAG	ENST00000310624.6	+	4	2003_2008	c.1970_1975delAGGAAG	c.(1969-1977)aaggaagag>aag	p.EE658del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	664	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCAGAGAAGGAAGAGGCCAAGTC	0.558																																					p.657_659del		.											.	NEFH-90	0			c.1970_1975del						.																																			SO:0001651	inframe_deletion	4744	exon4			CAGAGAAGGAAGA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1970_1975delAGGAAG	22.37:g.29885599_29885604delAGGAAG	ENSP00000311997:p.Glu658_Glu659del	292	0		304	10	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.558	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
C22orf42	150297	ucsc.edu;bcgsc.ca	37	22	32547007	32547007	+	Splice_Site	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:32547007C>G	ENST00000382097.3	-	6	538		c.e6-1		C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42											NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CAGATATTTCCTGCAGTAAGA	0.388																																					.		.											.	C22orf42-92	0			c.466-1G>C						.						67.0	73.0	71.0					22																	32547007		2203	4300	6503	SO:0001630	splice_region_variant	150297	exon7			TATTTCCTGCAGT	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.466-1G>C	22.37:g.32547007C>G		317	2		270	185	NM_001010859	0	0	0	0	0	A4QPH5	Splice_Site	SNP	ENST00000382097.3	37	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	C	2.401	-0.337698	0.05278	.	.	ENSG00000205856	ENST00000382097	.	.	.	0.84	0.84	0.18912	.	.	.	.	.	.	.	.	.	.	.	0.22096	N	0.999368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.986	0.14190	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C22orf42	30877007	0.009000	0.17119	0.006000	0.13384	0.009000	0.06853	0.420000	0.21263	0.754000	0.32968	0.297000	0.19635	.	.		0.388	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859	Intron
BPIFC	254240	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	32828365	32828365	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:32828365C>G	ENST00000397452.1	-	11	1254	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.D382H|BPIFC_ENST00000534972.1_Missense_Mutation_p.D106H			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	382						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CTTACGAAGTCCATGGAAACG	0.507																																					p.D382H		.											.	.	0			c.G1144C						.						172.0	155.0	161.0					22																	32828365		2203	4300	6503	SO:0001583	missense	254240	exon10			CGAAGTCCATGGA	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1144G>C	22.37:g.32828365C>G	ENSP00000380594:p.Asp382His	173	2		208	152	NM_174932	0	0	0	0	0	A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894355	0.72639	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972	T;T;T	0.08193	3.12;3.12;3.12	5.86	4.84	0.62591	.	0.050950	0.85682	D	0.000000	T	0.25382	0.0617	M	0.81802	2.56	0.41488	D	0.988204	D	0.64830	0.994	D	0.67900	0.954	T	0.00377	-1.1778	10	0.59425	D	0.04	-30.8753	8.0583	0.30619	0.0:0.8434:0.0:0.1566	.	382	Q8NFQ6	BPIFC_HUMAN	H	382;382;106	ENSP00000380594:D382H;ENSP00000300399:D382H;ENSP00000439123:D106H	ENSP00000300399:D382H	D	-	1	0	BPIFC	31158365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.264000	0.43302	2.781000	0.95711	0.650000	0.86243	GAC	.		0.507	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	
LARGE	9215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	33712075	33712075	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:33712075C>A	ENST00000354992.2	-	12	2018	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	LARGE_ENST00000337431.2_Missense_Mutation_p.D431Y|LARGE_ENST00000452586.2_Missense_Mutation_p.D282Y|LARGE_ENST00000397394.2_Missense_Mutation_p.D483Y|LARGE_ENST00000437602.2_Missense_Mutation_p.D483Y|LARGE_ENST00000402320.1_Missense_Mutation_p.D431Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	483					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCATACCTGTCCATGGACAGC	0.602																																					p.D483Y	Colon(70;397 1175 4573 19089 45288)	.											.	LARGE-92	0			c.G1447T						.						116.0	85.0	95.0					22																	33712075		2203	4300	6503	SO:0001583	missense	9215	exon12			ACCTGTCCATGGA	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1447G>T	22.37:g.33712075C>A	ENSP00000347088:p.Asp483Tyr	186	1		187	127	NM_004737	0	0	0	0	0	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692919	0.88735	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.59772	0.65;0.73;0.65;0.73;0.24;1.83	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.81964	0.4934	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.994;0.994;0.996	D	0.86259	0.1654	10	0.87932	D	0	.	18.8773	0.92343	0.0:1.0:0.0:0.0	.	483;282;431;483	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	Y	160;160;160;483;431;483;431;282;483	ENSP00000347088:D483Y;ENSP00000336636:D431Y;ENSP00000380549:D483Y;ENSP00000385223:D431Y;ENSP00000407917:D282Y;ENSP00000388544:D483Y	ENSP00000336636:D431Y	D	-	1	0	LARGE	32042075	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.292000	0.78731	2.458000	0.83093	0.655000	0.94253	GAC	.		0.602	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642	
TMPRSS6	164656	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	22	37465237	37465237	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:37465237C>T	ENST00000346753.3	-	16	2132	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	TMPRSS6_ENST00000381792.2_Silent_p.L663L|TMPRSS6_ENST00000406856.1_Silent_p.L663L|TMPRSS6_ENST00000406725.1_Silent_p.L663L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	672	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGTCGAGCTGCAGCAGCGCCA	0.687																																					p.L672L		.											.	TMPRSS6-292	0			c.G2016A						.						36.0	35.0	35.0					22																	37465237		2195	4293	6488	SO:0001819	synonymous_variant	164656	exon16			GAGCTGCAGCAGC	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2016G>A	22.37:g.37465237C>T		57	0		139	78	NM_153609	0	0	0	0	0	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	CCDS13941.1																																																																																			.		0.687	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
SSTR3	6753	hgsc.bcm.edu	37	22	37603296	37603296	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:37603296C>T	ENST00000328544.3	-	2	1080	c.547G>A	c.(547-549)Gga>Aga	p.G183R	SSTR3_ENST00000402501.1_Missense_Mutation_p.G183R	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	183					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CGGGGCACTCCCGAGAAGACC	0.726																																					p.G183R		.											.	SSTR3-522	0			c.G547A						.						14.0	17.0	16.0					22																	37603296		2197	4268	6465	SO:0001583	missense	6753	exon2			GCACTCCCGAGAA		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.547G>A	22.37:g.37603296C>T	ENSP00000330138:p.Gly183Arg	0	0		53	16	NM_001051	0	0	0	0	0	A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247417	0.22880	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.71934	-0.61;-0.61	5.64	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.343038	0.32190	N	0.006453	T	0.63331	0.2502	L	0.41079	1.255	0.09310	N	1	B	0.28760	0.221	B	0.35727	0.209	T	0.50684	-0.8799	10	0.16420	T	0.52	.	13.9876	0.64345	0.0:0.9274:0.0:0.0726	.	183	P32745	SSR3_HUMAN	R	183	ENSP00000330138:G183R;ENSP00000384904:G183R	ENSP00000330138:G183R	G	-	1	0	SSTR3	35933242	0.008000	0.16893	0.420000	0.26596	0.304000	0.27724	0.541000	0.23207	2.663000	0.90544	0.563000	0.77884	GGA	.		0.726	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1		
SH3BP1	23616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	38043305	38043305	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:38043305A>G	ENST00000357436.4	+	12	1381	c.1068A>G	c.(1066-1068)ccA>ccG	p.P356P	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Silent_p.P356P|SH3BP1_ENST00000599616.1_Silent_p.P292P|SH3BP1_ENST00000442465.2_Silent_p.P356P	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	356	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GGGAGCTGCCAGAGCCTCTGA	0.612																																					p.P356P		.											.	SH3BP1-90	0			c.A1068G						.						121.0	122.0	121.0					22																	38043305		2203	4300	6503	SO:0001819	synonymous_variant	23616	exon12			GCTGCCAGAGCCT		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1068A>G	22.37:g.38043305A>G		100	0		98	41	NM_018957	0	0	0	0	0	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	CCDS13952.2																																																																																			.		0.612	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957	
APOBEC3F	200316	bcgsc.ca	37	22	39440149	39440149	+	Intron	SNP	C	C	T	rs5750728	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:39440149C>T	ENST00000308521.5	+	3	528				APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Missense_Mutation_p.A78V|APOBEC3F_ENST00000491387.1_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F						base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ggccagtgcgccccaccacat	0.582													C|||	2504	0.5	0.202	0.6239	5008	,	,		18242	0.7093		0.4911	False		,,,				2504	0.6084				p.A78V		.											.	APOBEC3F-226	0			c.C233T						.	C	VAL/ALA,	1141,3239		159,823,1208	48.0	42.0	44.0		233,	0.2	0.0	22	dbSNP_114	44	4530,4050		1198,2134,958	no	missense,intron	APOBEC3F	NM_001006666.1,NM_145298.5	64,	1357,2957,2166	TT,TC,CC		47.2028,26.0502,43.7577	,	78/102,	39440149	5671,7289	2190	4290	6480	SO:0001627	intron_variant	200316	exon3			AGTGCGCCCCACC	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.172-797C>T	22.37:g.39440149C>T		174	0		182	7	NM_001006666	0	0	0	0	0	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	CCDS33648.1	1108	0.5073260073260073	110	0.22357723577235772	236	0.6519337016574586	405	0.708041958041958	357	0.470976253298153	.	6.374	0.437123	0.12104	0.260502	0.527972	ENSG00000128394	ENST00000381565	T	0.17370	2.28	0.235	0.235	0.15431	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.17667	0.023	B	0.11329	0.006	T	0.20907	-1.0261	6	0.48119	T	0.1	.	.	.	.	rs5750728;rs8141017;rs52830498;rs59723377;rs5750728	78	Q6ICH3	.	V	78	ENSP00000370977:A78V	ENSP00000370977:A78V	A	+	2	0	APOBEC3F	37770095	0.001000	0.12720	0.033000	0.17914	0.034000	0.12701	-0.356000	0.07661	0.308000	0.22923	0.313000	0.20887	GCC	C|0.534;T|0.466		0.582	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298	
FAM83F	113828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	40417793	40417793	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:40417793G>A	ENST00000333407.6	+	4	1373	c.1279G>A	c.(1279-1281)Gcg>Acg	p.A427T	FAM83F_ENST00000473717.1_Missense_Mutation_p.A259T	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	427										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CATGGGAGAAGCGGCCCGGGG	0.667																																					p.A427T		.											.	FAM83F-153	0			c.G1279A						.						19.0	19.0	19.0					22																	40417793		2199	4297	6496	SO:0001583	missense	113828	exon4			GGAGAAGCGGCCC		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1279G>A	22.37:g.40417793G>A	ENSP00000330432:p.Ala427Thr	88	0		154	37	NM_138435	0	0	0	0	0	Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	G	9.394	1.076238	0.20227	.	.	ENSG00000133477	ENST00000333407	T	0.08896	3.04	4.94	2.86	0.33363	.	2.375860	0.01237	N	0.008519	T	0.09024	0.0223	L	0.34521	1.04	0.09310	N	0.999994	B	0.17038	0.02	B	0.18263	0.021	T	0.36696	-0.9737	10	0.23302	T	0.38	-6.3502	8.127	0.31005	0.2479:0.0:0.7521:0.0	.	427	Q8NEG4	FA83F_HUMAN	T	427	ENSP00000330432:A427T	ENSP00000330432:A427T	A	+	1	0	FAM83F	38747739	0.909000	0.30893	0.793000	0.32043	0.028000	0.11728	3.058000	0.49939	0.678000	0.31325	0.455000	0.32223	GCG	.		0.667	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435	
XPNPEP3	63929	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	41278040	41278040	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:41278040A>T	ENST00000357137.4	+	3	532	c.448A>T	c.(448-450)Ata>Tta	p.I150L	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.I150L|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.I150L|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I127L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	150					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACAAAGCCATACTTTTTGT	0.488																																					p.I150L	Ovarian(145;306 1841 7037 21878 30110)	.											.	XPNPEP3-68	0			c.A448T						.						116.0	107.0	110.0					22																	41278040		2203	4300	6503	SO:0001583	missense	63929	exon3			AAAGCCATACTTT		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.448A>T	22.37:g.41278040A>T	ENSP00000349658:p.Ile150Leu	127	1		108	49	NM_022098	0	0	0	0	0	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	A	8.122	0.781211	0.16120	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.7	2.42	0.29668	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.543982	0.24102	N	0.041540	T	0.60983	0.2311	L	0.35341	1.055	0.27481	N	0.95257	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.004	T	0.41910	-0.9482	10	0.14656	T	0.56	.	6.0614	0.19841	0.67:0.1253:0.2048:0.0	.	150;150	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	L	150;150;150;127	ENSP00000443682:I150L;ENSP00000397110:I150L;ENSP00000349658:I150L;ENSP00000441942:I127L	ENSP00000349658:I150L	I	+	1	0	XPNPEP3	39607986	0.997000	0.39634	0.983000	0.44433	0.195000	0.23768	0.801000	0.27055	0.459000	0.27016	0.451000	0.29950	ATA	.		0.488	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098	
ZC3H7B	23264	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	41723297	41723297	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:41723297G>C	ENST00000352645.4	+	5	630	c.373G>C	c.(373-375)Gct>Cct	p.A125P	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A125P	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	125					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAAGGCACGCGCTCTCAATGA	0.652																																					p.A125P		.											.	ZC3H7B-90	0			c.G373C						.						144.0	117.0	126.0					22																	41723297		2203	4300	6503	SO:0001583	missense	23264	exon5			GCACGCGCTCTCA		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.373G>C	22.37:g.41723297G>C	ENSP00000345793:p.Ala125Pro	96	1		135	34	NM_017590	0	0	0	0	0	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811555	0.70797	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.37411	1.2;1.2	5.27	4.17	0.49024	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.162467	0.56097	D	0.000040	T	0.56321	0.1977	M	0.68317	2.08	0.38366	D	0.944755	D;P	0.65815	0.995;0.938	D;B	0.67548	0.952;0.423	T	0.64326	-0.6434	10	0.72032	D	0.01	-25.8955	14.9866	0.71353	0.0:0.0:0.8069:0.1931	.	125;125	Q9UGR2-2;Q9UGR2	.;Z3H7B_HUMAN	P	125	ENSP00000345793:A125P;ENSP00000263243:A125P	ENSP00000263243:A125P	A	+	1	0	ZC3H7B	40053243	0.995000	0.38212	0.939000	0.37840	0.698000	0.40448	2.511000	0.45476	2.457000	0.83068	0.491000	0.48974	GCT	.		0.652	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590	
C22orf46	79640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	42089695	42089695	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:42089695C>T	ENST00000402966.1	+	2	530	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	C22orf46_ENST00000472110.2_3'UTR	NM_001142964.1	NP_001136436.1	C9J442	CV046_HUMAN	chromosome 22 open reading frame 46	149						extracellular region (GO:0005576)											CCACTCTGAGCCCATCTTTTG	0.562																																					p.P149S		.											.	.	0			c.C445T						.						202.0	181.0	187.0					22																	42089695		692	1591	2283	SO:0001583	missense	79640	exon2			TCTGAGCCCATCT	BC007210	CCDS46717.1	22q13.2	2011-01-25			ENSG00000184208	ENSG00000184208			26294	protein-coding gene	gene with protein product						12477932	Standard	NM_001142964		Approved	FLJ23584, CTA-216E10.6	uc003bax.1	C9J442	OTTHUMG00000151188	ENST00000402966.1:c.445C>T	22.37:g.42089695C>T	ENSP00000385467:p.Pro149Ser	69	0		68	14	NM_001142964	0	0	0	0	0		Missense_Mutation	SNP	ENST00000402966.1	37	CCDS46717.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819088	0.32145	.	.	ENSG00000184208	ENST00000402966	T	0.81415	-1.49	3.84	-0.819	0.10829	.	.	.	.	.	T	0.57330	0.2046	N	0.14661	0.345	0.09310	N	1	B	0.19331	0.035	B	0.17433	0.018	T	0.38887	-0.9640	9	0.13853	T	0.58	.	2.9725	0.05927	0.1947:0.4708:0.0:0.3345	.	149	C9J442	CV046_HUMAN	S	149	ENSP00000385467:P149S	ENSP00000385467:P149S	P	+	1	0	C22orf46	40419641	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.553000	0.06012	-0.150000	0.11195	0.462000	0.41574	CCC	.		0.562	C22orf46-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321678.2	NM_024588	
MEI1	150365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	42114182	42114182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:42114182G>T	ENST00000401548.3	+	6	677	c.637G>T	c.(637-639)Gag>Tag	p.E213*	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGTGGCAGCTGAGATGCTTTC	0.493																																					p.E213X		.											.	MEI1-70	0			c.G637T						.						83.0	81.0	82.0					22																	42114182		1944	4141	6085	SO:0001587	stop_gained	150365	exon6			GCAGCTGAGATGC	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.637G>T	22.37:g.42114182G>T	ENSP00000384115:p.Glu213*	86	0		94	16	NM_152513	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000401548.3	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344666	0.95807	.	.	ENSG00000167077	ENST00000401548	.	.	.	5.76	4.75	0.60458	.	0.065086	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.5664	14.667	0.68915	0.0696:0.0:0.9304:0.0	.	.	.	.	X	213	.	ENSP00000384115:E213X	E	+	1	0	MEI1	40444128	1.000000	0.71417	0.994000	0.49952	0.903000	0.53119	3.147000	0.50639	1.447000	0.47661	0.655000	0.94253	GAG	.		0.493	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513	
MEI1	150365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	42114184	42114184	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:42114184G>A	ENST00000400107.1	+	0	664				MEI1_ENST00000401548.3_Silent_p.E213E|MEI1_ENST00000540833.1_De_novo_Start_InFrame|MEI1_ENST00000300398.4_De_novo_Start_InFrame					meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGGCAGCTGAGATGCTTTCAG	0.493																																					p.E213E		.											.	MEI1-70	0			c.G639A						.						84.0	82.0	83.0					22																	42114184		1942	4141	6083			150365	exon6			AGCTGAGATGCTT	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083		22.37:g.42114184G>A		86	0		96	17	NM_152513	0	0	0	0	0		Silent	SNP	ENST00000400107.1	37																																																																																				.		0.493	MEI1-202	KNOWN	basic	protein_coding	protein_coding		NM_152513	
NFAM1	150372	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	42781209	42781209	+	Missense_Mutation	SNP	G	G	T	rs200124807		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:42781209G>T	ENST00000329021.5	-	6	808	c.771C>A	c.(769-771)ttC>ttA	p.F257L		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	257					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						CATCATCTTCGAATCTATGCG	0.478																																					p.F257L		.											.	NFAM1-90	0			c.C771A						.						112.0	117.0	115.0					22																	42781209		2203	4300	6503	SO:0001583	missense	150372	exon6			ATCTTCGAATCTA	BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.771C>A	22.37:g.42781209G>T	ENSP00000333680:p.Phe257Leu	76	0		63	32	NM_145912	0	0	0	0	0	B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Missense_Mutation	SNP	ENST00000329021.5	37	CCDS14034.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454096	0.43634	.	.	ENSG00000235568	ENST00000329021	T	0.31247	1.5	4.38	-8.75	0.00834	.	0.993514	0.08148	U	0.990481	T	0.19886	0.0478	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.34650	-0.9820	10	0.62326	D	0.03	0.2426	1.0356	0.01548	0.2625:0.1986:0.3286:0.2104	.	257	Q8NET5	NFAM1_HUMAN	L	257	ENSP00000333680:F257L	ENSP00000333680:F257L	F	-	3	2	NFAM1	41111153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.844000	0.04345	-2.295000	0.00662	-1.191000	0.01696	TTC	G|1.000;A|0.000		0.478	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1	NM_145912	
SCUBE1	80274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	43610215	43610215	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:43610215T>A	ENST00000360835.4	-	16	2060	c.1934A>T	c.(1933-1935)cAg>cTg	p.Q645L	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	645					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGACACACACTGGCCGAGCTC	0.647																																					p.Q645L		.											.	SCUBE1-93	0			c.A1934T						.						75.0	57.0	63.0					22																	43610215		2203	4300	6503	SO:0001583	missense	80274	exon16			ACACACTGGCCGA		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1934A>T	22.37:g.43610215T>A	ENSP00000354080:p.Gln645Leu	194	0		211	94	NM_173050	0	0	0	0	0	Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	t	13.66	2.302131	0.40694	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.15256	2.44	3.81	3.81	0.43845	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.106561	0.64402	D	0.000003	T	0.20292	0.0488	M	0.68952	2.095	0.80722	D	1	B	0.06786	0.001	B	0.18561	0.022	T	0.03945	-1.0990	10	0.33141	T	0.24	.	13.0438	0.58915	0.0:0.0:0.0:1.0	.	645	Q8IWY4	SCUB1_HUMAN	L	645;275	ENSP00000354080:Q645L	ENSP00000354080:Q645L	Q	-	2	0	SCUBE1	41940159	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	4.898000	0.63238	1.733000	0.51620	0.449000	0.29647	CAG	.		0.647	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050	
EFCAB6	64800	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	22	44151684	44151684	+	Missense_Mutation	SNP	G	G	A	rs565223062		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:44151684G>A	ENST00000262726.7	-	6	722	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R5C|EFCAB6_ENST00000356087.4_Missense_Mutation_p.R51C|EFCAB6_ENST00000358439.4_Missense_Mutation_p.R51C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTAATGTGCGGCAGCAATTC	0.338													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15955	0.0		0.0	False		,,,				2504	0.0				p.R157C		.											.	EFCAB6-97	0			c.C469T						.						54.0	52.0	52.0					22																	44151684		2201	4300	6501	SO:0001583	missense	64800	exon6			ATGTGCGGCAGCA	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.469C>T	22.37:g.44151684G>A	ENSP00000262726:p.Arg157Cys	48	0		33	17	NM_022785	0	0	0	0	0	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624028	0.28889	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	4.64	2.41	0.29592	.	0.656363	0.13767	N	0.364190	T	0.29321	0.0730	M	0.69823	2.125	0.09310	N	1	B;B;B;B	0.23316	0.014;0.083;0.016;0.011	B;B;B;B	0.17433	0.017;0.018;0.011;0.004	T	0.25641	-1.0126	10	0.54805	T	0.06	-18.3798	5.3931	0.16255	0.1022:0.0:0.7003:0.1975	.	51;51;157;157	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	C	5;157;51;51	ENSP00000379533:R5C;ENSP00000262726:R157C;ENSP00000351219:R51C;ENSP00000348391:R51C	ENSP00000262726:R157C	R	-	1	0	EFCAB6	42483017	0.013000	0.17824	0.014000	0.15608	0.395000	0.30598	1.092000	0.30927	1.312000	0.45043	-0.137000	0.14449	CGC	.		0.338	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	44161245	44161245	+	Missense_Mutation	SNP	G	G	A	rs139001785		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:44161245G>A	ENST00000262726.7	-	5	633	c.380C>T	c.(379-381)cCg>cTg	p.P127L	EFCAB6_ENST00000396231.2_5'UTR|EFCAB6_ENST00000356087.4_Missense_Mutation_p.P21L|EFCAB6_ENST00000358439.4_Missense_Mutation_p.P21L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGCAAGGTACGGTACAGTACC	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19586	0.0		0.0	False		,,,				2504	0.0				p.P127L		.											.	EFCAB6-97	0			c.C380T						.						133.0	134.0	133.0					22																	44161245		2203	4300	6503	SO:0001583	missense	64800	exon5			AGGTACGGTACAG	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.380C>T	22.37:g.44161245G>A	ENSP00000262726:p.Pro127Leu	203	0		189	73	NM_022785	0	0	0	0	0	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.22	2.470871	0.43942	.	.	ENSG00000186976	ENST00000262726;ENST00000358439;ENST00000356087	T;T;T	0.31247	1.5;1.5;1.5	4.34	4.34	0.51931	EF-hand-like domain (1);	0.195954	0.32218	N	0.006419	T	0.46983	0.1421	L	0.55103	1.725	0.30899	N	0.729514	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.964;0.989;0.975;0.973	T	0.43410	-0.9393	10	0.30078	T	0.28	-26.3511	12.5318	0.56120	0.0:0.0:1.0:0.0	.	21;21;127;127	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	L	127;21;21	ENSP00000262726:P127L;ENSP00000351219:P21L;ENSP00000348391:P21L	ENSP00000262726:P127L	P	-	2	0	EFCAB6	42492578	0.903000	0.30736	0.178000	0.23040	0.207000	0.24258	2.923000	0.48868	2.392000	0.81423	0.655000	0.94253	CCG	G|0.999;A|0.000		0.393	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	44161247	44161247	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:44161247T>A	ENST00000262726.7	-	5	631	c.378A>T	c.(376-378)gtA>gtT	p.V126V	EFCAB6_ENST00000396231.2_5'UTR|EFCAB6_ENST00000356087.4_Silent_p.V20V|EFCAB6_ENST00000358439.4_Silent_p.V20V	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAGGTACGGTACAGTACCAG	0.393																																					p.V126V		.											.	EFCAB6-97	0			c.A378T						.						133.0	133.0	133.0					22																	44161247		2203	4300	6503	SO:0001819	synonymous_variant	64800	exon5			GTACGGTACAGTA	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.378A>T	22.37:g.44161247T>A		201	1		189	74	NM_022785	0	0	0	0	0	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	CCDS14049.1																																																																																			.		0.393	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
PARVG	64098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	44602230	44602230	+	Missense_Mutation	SNP	G	G	T	rs574110853		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:44602230G>T	ENST00000444313.3	+	14	1404	c.920G>T	c.(919-921)aGg>aTg	p.R307M	PARVG_ENST00000422871.1_Missense_Mutation_p.R307M|PARVG_ENST00000415224.1_Missense_Mutation_p.R307M	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	307	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AGCACACTGAGGGTGCTCTAT	0.607																																					p.R307M		.											.	PARVG-90	0			c.G920T						.						90.0	84.0	86.0					22																	44602230		2203	4300	6503	SO:0001583	missense	64098	exon14			CACTGAGGGTGCT	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.920G>T	22.37:g.44602230G>T	ENSP00000391583:p.Arg307Met	182	0		278	117	NM_001137606	0	0	0	0	0	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049386	0.36181	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.58652	0.32;0.32;0.32	3.84	3.84	0.44239	Calponin homology domain (5);	0.244429	0.33272	N	0.005082	T	0.76877	0.4049	M	0.84511	2.7	0.50313	D	0.999867	D	0.89917	1.0	D	0.77004	0.989	T	0.81611	-0.0854	10	0.72032	D	0.01	-7.243	13.6118	0.62083	0.0:0.0:1.0:0.0	.	307	Q9HBI0	PARVG_HUMAN	M	307	ENSP00000391453:R307M;ENSP00000391583:R307M;ENSP00000416761:R307M	ENSP00000416761:R307M	R	+	2	0	PARVG	42933563	0.670000	0.27512	0.065000	0.19835	0.033000	0.12548	2.169000	0.42434	1.844000	0.53588	0.313000	0.20887	AGG	.		0.607	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141	
KIAA0930	23313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	45598876	45598876	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:45598876C>T	ENST00000336156.5	-	7	912	c.847G>A	c.(847-849)Gag>Aag	p.E283K	KIAA0930_ENST00000251993.7_Missense_Mutation_p.E288K|KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000443310.3_Missense_Mutation_p.E265K|KIAA0930_ENST00000391627.2_Missense_Mutation_p.E249K|MIR1249_ENST00000408671.1_RNA	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	283										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CTTACCCGCTCGTGCATGGGC	0.662																																					p.E288K		.											.	KIAA0930-90	0			c.G862A						.						51.0	50.0	51.0					22																	45598876		2203	4300	6503	SO:0001583	missense	23313	exon7			CCCGCTCGTGCAT	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.847G>A	22.37:g.45598876C>T	ENSP00000336720:p.Glu283Lys	81	0		96	11	NM_015264	0	0	0	0	0	B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515541	0.85389	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	4.88	4.88	0.63580	.	0.226724	0.46145	D	0.000301	T	0.42177	0.1191	L	0.36672	1.1	0.80722	D	1	P;P;P;P	0.48230	0.725;0.858;0.907;0.84	B;B;B;B	0.39840	0.024;0.122;0.311;0.129	T	0.32079	-0.9920	9	0.12103	T	0.63	-28.6327	18.1137	0.89543	0.0:1.0:0.0:0.0	.	265;283;288;354	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	K	283;168;288;249;265	.	ENSP00000251993:E288K	E	-	1	0	KIAA0930	43977540	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.250000	0.78287	2.280000	0.76307	0.555000	0.69702	GAG	.		0.662	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880	
UPK3A	7380	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	45691536	45691536	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:45691536C>A	ENST00000216211.4	+	6	832	c.800C>A	c.(799-801)aCg>aAg	p.T267K	UPK3A_ENST00000396082.2_Missense_Mutation_p.T146K	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	267					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCTTCCTACACGTCCGTGAAC	0.617																																					p.T267K		.											.	UPK3A-90	0			c.C800A						.						46.0	48.0	48.0					22																	45691536		2203	4300	6503	SO:0001583	missense	7380	exon6			CCTACACGTCCGT	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.800C>A	22.37:g.45691536C>A	ENSP00000216211:p.Thr267Lys	55	0		72	25	NM_006953	0	0	0	0	0	B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	37	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740825	0.49151	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.84070	-0.2;-1.8	5.64	5.64	0.86602	.	0.780759	0.11805	N	0.527724	T	0.81178	0.4768	L	0.57536	1.79	0.09310	N	1	B;P	0.40302	0.325;0.712	B;B	0.35727	0.098;0.209	T	0.76542	-0.2921	10	0.72032	D	0.01	-16.9578	15.2084	0.73198	0.0:1.0:0.0:0.0	.	146;267	O75631-2;O75631	.;UPK3A_HUMAN	K	267;146	ENSP00000216211:T267K;ENSP00000379391:T146K	ENSP00000216211:T267K	T	+	2	0	UPK3A	44070200	0.015000	0.18098	0.187000	0.23214	0.155000	0.21991	3.260000	0.51523	2.676000	0.91093	0.557000	0.71058	ACG	.		0.617	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953	
RIBC2	26150	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	45822021	45822021	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:45822021G>T	ENST00000342894.3	+	5	1064	c.650G>T	c.(649-651)cGc>cTc	p.R217L	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Missense_Mutation_p.R285L			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	217						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAGCAGATCCGCCTAGTCCAG	0.642																																					.		.											.	RIBC2-90	0			.						.						46.0	47.0	47.0					22																	45822021		2203	4299	6502	SO:0001583	missense	26150	.			AGATCCGCCTAGT	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.650G>T	22.37:g.45822021G>T	ENSP00000342529:p.Arg217Leu	77	0		66	31	.	0	0	0	0	0	Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37		.	.	.	.	.	.	.	.	.	.	G	11.50	1.656442	0.29425	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.28454	1.61;1.61	4.43	3.37	0.38596	.	0.465392	0.21120	N	0.079836	T	0.16769	0.0403	.	.	.	0.31810	N	0.627281	B	0.24675	0.109	B	0.29524	0.103	T	0.14254	-1.0479	9	0.10902	T	0.67	-3.7688	9.1945	0.37220	0.1722:0.0:0.8278:0.0	.	217	Q9H4K1	RIBC2_HUMAN	L	217;285	ENSP00000342529:R217L;ENSP00000444196:R285L	ENSP00000342529:R217L	R	+	2	0	RIBC2	44200685	0.102000	0.21896	0.760000	0.31359	0.731000	0.41821	1.720000	0.38022	2.270000	0.75569	0.655000	0.94253	CGC	.		0.642	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653	
GTSE1	51512	broad.mit.edu	37	22	46712004	46712004	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:46712004T>G	ENST00000454366.1	+	7	1339	c.1127T>G	c.(1126-1128)aTg>aGg	p.M376R		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	357					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TCAGGCAGAATGGGACCCGCC	0.552																																					p.M376R	GBM(153;542 1915 12487 29016 50495)	.											.	GTSE1-187	0			c.T1127G						.						34.0	40.0	38.0					22																	46712004		2203	4296	6499	SO:0001583	missense	51512	exon7			GCAGAATGGGACC	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1127T>G	22.37:g.46712004T>G	ENSP00000415430:p.Met376Arg	114	11		108	9	NM_016426	0	0	0	0	0	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	T	10.36	1.328302	0.24080	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06371	3.31	4.95	-3.29	0.05017	.	3.160910	0.00639	N	0.000505	T	0.03827	0.0108	N	0.03608	-0.345	0.09310	N	1	B;B	0.13594	0.003;0.008	B;B	0.08055	0.003;0.003	T	0.45614	-0.9249	10	0.62326	D	0.03	3.038	10.9378	0.47255	0.0:0.3134:0.0:0.6866	.	357;336	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	R	376;336	ENSP00000415430:M376R	ENSP00000354634:M336R	M	+	2	0	GTSE1	45090668	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.184000	0.03076	-0.371000	0.08004	-0.182000	0.12963	ATG	.		0.552	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426	
CELSR1	9620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	46835306	46835306	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:46835306C>T	ENST00000262738.3	-	3	4185	c.4186G>A	c.(4186-4188)Gag>Aag	p.E1396K		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1396	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCACAGTGCTCTCCTGGGGGG	0.647																																					p.E1396K		.											.	CELSR1-525	0			c.G4186A						.						28.0	24.0	25.0					22																	46835306		2203	4300	6503	SO:0001583	missense	9620	exon3			AGTGCTCTCCTGG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4186G>A	22.37:g.46835306C>T	ENSP00000262738:p.Glu1396Lys	54	0		84	18	NM_014246	0	0	0	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335256	0.95758	.	.	ENSG00000075275	ENST00000262738	D	0.87179	-2.22	5.1	5.1	0.69264	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.073741	0.51477	U	0.000082	D	0.84790	0.5550	N	0.04245	-0.25	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.85039	0.0922	10	0.23891	T	0.37	.	18.1211	0.89572	0.0:1.0:0.0:0.0	.	1396	Q9NYQ6	CELR1_HUMAN	K	1396	ENSP00000262738:E1396K	ENSP00000262738:E1396K	E	-	1	0	CELSR1	45213970	1.000000	0.71417	0.993000	0.49108	0.908000	0.53690	7.429000	0.80309	2.387000	0.81309	0.561000	0.74099	GAG	.		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
C22orf34	348645	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	50018299	50018299	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:50018299G>C	ENST00000405854.1	-	4	1121	c.162C>G	c.(160-162)caC>caG	p.H54Q	C22orf34_ENST00000400023.1_Missense_Mutation_p.H55Q|C22orf34_ENST00000444628.1_Missense_Mutation_p.H54Q			Q6ZV56	CV034_HUMAN	chromosome 22 open reading frame 34	54										pancreas(1)	1						GCTCCCGTTGGTGGCCTGGGC	0.647																																					.		.											.	.	0			.						.																																			SO:0001583	missense	348645	.			CCGTTGGTGGCCT	BC048207		22q13.33	2013-01-15			ENSG00000188511	ENSG00000188511			28010	other	unknown						12477932	Standard	NR_026997		Approved		uc003bit.3	Q6ZV56	OTTHUMG00000030424	ENST00000405854.1:c.162C>G	22.37:g.50018299G>C	ENSP00000385457:p.His54Gln	68	1		62	24	.	0	0	0	0	0	Q147Y0|Q5R3D1|Q6ZTN8	RNA	SNP	ENST00000405854.1	37		.	.	.	.	.	.	.	.	.	.	G	1.774	-0.483597	0.04383	.	.	ENSG00000188511	ENST00000400023;ENST00000405854;ENST00000444628	.	.	.	0.799	-0.535	0.11879	.	.	.	.	.	T	0.15565	0.0375	.	.	.	0.09310	N	1	P	0.46020	0.871	B	0.34824	0.19	T	0.14896	-1.0456	6	.	.	.	.	5.4821	0.16729	0.0:0.0:0.6762:0.3238	.	55	Q6ZV56-2	.	Q	55;54;54	.	.	H	-	3	2	C22orf34	48404303	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.310000	0.08135	-0.155000	0.11098	0.563000	0.77884	CAC	.		0.647	C22orf34-003	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000317432.1	NR_026997	
PLXNB2	23654	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	50714236	50714236	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:50714236A>T	ENST00000449103.1	-	37	5554	c.5414T>A	c.(5413-5415)aTc>aAc	p.I1805N	AL022328.1_ENST00000595015.1_Splice_Site_p.D45V|PLXNB2_ENST00000359337.4_Splice_Site_p.I1805N			O15031	PLXB2_HUMAN	plexin B2	1805					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCATTGATGATCTGAGGGAG	0.647											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I1805N		.											.	PLXNB2-211	0			c.T5414A						.						43.0	49.0	47.0					22																	50714236		2111	4252	6363	SO:0001630	splice_region_variant	23654	exon37			TTGATGATCTGAG		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5413-1T>A	22.37:g.50714236A>T		87	1	971	119	51	NM_012401	0	0	0	0	0	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.566773	0.86439	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.18657	2.2;2.2	4.7	4.7	0.59300	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.52517	0.1739	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63161	-0.6699	10	0.87932	D	0	.	14.1753	0.65537	1.0:0.0:0.0:0.0	.	1805	O15031	PLXB2_HUMAN	N	1805	ENSP00000409171:I1805N;ENSP00000352288:I1805N	ENSP00000352288:I1805N	I	-	2	0	PLXNB2	49056363	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.003000	0.93577	1.754000	0.51921	0.379000	0.24179	ATC	.		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401	Missense_Mutation
ARSA	410	broad.mit.edu;bcgsc.ca	37	22	51065667	51065667	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:51065667C>A	ENST00000547307.1	-	2	791	c.386G>T	c.(385-387)gGg>gTg	p.G129V	ARSA_ENST00000216124.5_Missense_Mutation_p.G131V|ARSA_ENST00000453344.2_Missense_Mutation_p.G45V|ARSA_ENST00000395621.3_Missense_Mutation_p.G131V|ARSA_ENST00000395619.3_Missense_Mutation_p.G131V|ARSA_ENST00000356098.5_Missense_Mutation_p.G131V|ARSA_ENST00000547805.1_Missense_Mutation_p.G129V			P15289	ARSA_HUMAN	arylsulfatase A	129					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CCCCTCAGGCCCCACCCCAAG	0.687																																					p.G131V		.											.	ARSA-92	0			c.G392T						.						14.0	18.0	17.0					22																	51065667		2194	4292	6486	SO:0001583	missense	410	exon3			TCAGGCCCCACCC	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.386G>T	22.37:g.51065667C>A	ENSP00000448440:p.Gly129Val	46	1		87	43	NM_001085426	0	0	0	0	0	B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37		.	.	.	.	.	.	.	.	.	.	C	14.79	2.641965	0.47153	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	4.74	4.74	0.60224	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.101570	0.64402	D	0.000002	D	0.96670	0.8913	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96562	0.9416	10	0.49607	T	0.09	.	15.5743	0.76362	0.0:1.0:0.0:0.0	.	129;129	B4DVI5;P15289	.;ARSA_HUMAN	V	131;131;129;129;131;45;131	ENSP00000348406:G131V;ENSP00000216124:G131V;ENSP00000448440:G129V;ENSP00000448932:G129V;ENSP00000378983:G131V;ENSP00000412542:G45V;ENSP00000378981:G131V	ENSP00000216124:G131V	G	-	2	0	ARSA	49412533	1.000000	0.71417	0.995000	0.50966	0.738000	0.42128	7.540000	0.82074	2.344000	0.79699	0.590000	0.80494	GGG	.		0.687	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487	
ACR	49	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	51183082	51183082	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:51183082G>A	ENST00000216139.5	+	5	753	c.713G>A	c.(712-714)gGa>gAa	p.G238E	ACR_ENST00000527761.1_3'UTR|AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGGACAGGGAGACAGCGGC	0.602																																					p.G238E		.											.	ACR-90	0			c.G713A						.						22.0	28.0	26.0					22																	51183082		2202	4298	6500	SO:0001630	splice_region_variant	49	exon5			GACAGGGAGACAG	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.712-1G>A	22.37:g.51183082G>A		186	0		232	55	NM_001097	0	0	0	0	0	Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	g	17.46	3.395755	0.62177	.	.	ENSG00000100312	ENST00000216139	D	0.98028	-4.67	4.41	4.41	0.53225	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46145	D	0.000312	D	0.99077	0.9683	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99053	1.0828	10	0.87932	D	0	-14.5785	14.5277	0.67900	0.0:0.0:1.0:0.0	.	238	P10323	ACRO_HUMAN	E	238	ENSP00000216139:G238E	ENSP00000216139:G238E	G	+	2	0	ACR	49529948	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	6.938000	0.75904	2.284000	0.76573	0.305000	0.20034	GGA	.		0.602	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097	Missense_Mutation
CHL1	10752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	361487	361487	+	Missense_Mutation	SNP	C	C	G	rs139673243	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:361487C>G	ENST00000256509.2	+	3	670	c.28C>G	c.(28-30)Cta>Gta	p.L10V	CHL1_ENST00000397491.2_Missense_Mutation_p.L10V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGGAAGAGGACTAATCGTATA	0.363													C|||	10	0.00199681	0.0	0.0144	5008	,	,		16055	0.0		0.0	False		,,,				2504	0.0				p.L10V		.											.	CHL1-583	0			c.C28G						.	C	VAL/LEU	2,4404	4.2+/-10.8	0,2,2201	70.0	71.0	71.0		28	-6.9	0.0	3	dbSNP_134	71	0,8600		0,0,4300	yes	missense	CHL1	NM_006614.2	32	0,2,6501	GG,GC,CC		0.0,0.0454,0.0154	benign	10/1225	361487	2,13004	2203	4300	6503	SO:0001583	missense	10752	exon1			AGAGGACTAATCG	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.28C>G	3.37:g.361487C>G	ENSP00000256509:p.Leu10Val	43	0		30	19	NM_001253388	0	0	0	0	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	6.761	0.509248	0.12883	4.54E-4	0.0	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000427688;ENST00000421198;ENST00000435603;ENST00000449294	T;T;T;T;T;T	0.64260	0.27;0.26;0.91;0.29;0.22;-0.09	4.91	-6.9	0.01655	.	1.906350	0.02550	N	0.095603	T	0.24431	0.0592	N	0.08118	0	0.09310	N	1	B;B;B	0.28233	0.009;0.004;0.204	B;B;B	0.29598	0.004;0.007;0.104	T	0.20306	-1.0279	10	0.12430	T	0.62	.	1.3608	0.02191	0.264:0.3477:0.2037:0.1847	.	10;10;10	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	V	10	ENSP00000256509:L10V;ENSP00000380628:L10V;ENSP00000403311:L10V;ENSP00000413628:L10V;ENSP00000397445:L10V;ENSP00000390440:L10V	ENSP00000256509:L10V	L	+	1	2	CHL1	336487	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.365000	0.07573	-1.642000	0.01521	-1.236000	0.01555	CTA	C|1.000;G|0.000		0.363	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	4693830	4693830	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:4693830G>T	ENST00000443694.2	+	9	879	c.879G>T	c.(877-879)cgG>cgT	p.R293R	ITPR1_ENST00000456211.2_Silent_p.R293R|ITPR1_ENST00000302640.8_Silent_p.R293R|ITPR1_ENST00000357086.4_Silent_p.R293R|ITPR1_ENST00000423119.2_Silent_p.R293R|ITPR1_ENST00000354582.6_Silent_p.R293R|ITPR1_ENST00000544951.1_Silent_p.R293R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	293					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACCCATGTCGGGGCGGAGCAG	0.498																																					p.R293R		.											.	ITPR1-710	0			c.G879T						.						76.0	77.0	77.0					3																	4693830		1993	4176	6169	SO:0001819	synonymous_variant	3708	exon11			ATGTCGGGGCGGA	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.879G>T	3.37:g.4693830G>T		138	0		163	110	NM_001099952	0	0	0	0	0	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																			.		0.498	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
GRM7	2917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	6903300	6903300	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:6903300G>T	ENST00000357716.4	+	1	499	c.225G>T	c.(223-225)ggG>ggT	p.G75G	GRM7_ENST00000486284.1_Silent_p.G75G|GRM7_ENST00000402647.2_Silent_p.G75G|GRM7_ENST00000403881.1_Silent_p.G75G|GRM7_ENST00000389336.4_Silent_p.G75G	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	75					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGGAAAACGGGATCCACAGGC	0.642																																					p.G75G		.											.	GRM7-526	0			c.G225T						.						32.0	30.0	30.0					3																	6903300		2203	4300	6503	SO:0001819	synonymous_variant	2917	exon1			AAACGGGATCCAC	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.225G>T	3.37:g.6903300G>T		173	1		246	165	NM_000844	0	0	0	0	0	Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	CCDS43042.1																																																																																			.		0.642	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
SETD5	55209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	9483874	9483874	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:9483874G>T	ENST00000406341.1	+	9	1212	c.1022G>T	c.(1021-1023)cGt>cTt	p.R341L	SETD5_ENST00000402466.1_Missense_Mutation_p.R243L|SETD5_ENST00000407969.1_Missense_Mutation_p.R360L|SETD5_ENST00000402198.1_Missense_Mutation_p.R341L|SETD5_ENST00000302463.6_Missense_Mutation_p.R243L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	341	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTGGATGCCCGTACTTTCGGT	0.408																																					p.R341L		.											.	SETD5-70	0			c.G1022T						.						143.0	131.0	135.0					3																	9483874		1923	4143	6066	SO:0001583	missense	55209	exon10			ATGCCCGTACTTT	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1022G>T	3.37:g.9483874G>T	ENSP00000383939:p.Arg341Leu	68	0		65	41	NM_001080517	0	0	0	0	0	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323835	0.95708	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.49	5.49	0.81192	SET domain (3);	0.120638	0.56097	D	0.000029	D	0.89955	0.6865	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.975;0.999;0.996	P;D;D	0.85130	0.908;0.997;0.997	D	0.90679	0.4604	10	0.87932	D	0	-2.8383	19.3711	0.94488	0.0:0.0:1.0:0.0	.	243;341;360	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	L	341;243;341;360;243	ENSP00000385852:R341L;ENSP00000384429:R243L;ENSP00000383939:R341L;ENSP00000384114:R360L;ENSP00000302028:R243L	ENSP00000302028:R243L	R	+	2	0	SETD5	9458874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.585000	0.87301	0.655000	0.94253	CGT	.		0.408	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614	
ARPC4	10093	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	9839433	9839433	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:9839433C>A	ENST00000397261.3	+	2	658	c.94C>A	c.(94-96)Cga>Aga	p.R32R	ARPC4_ENST00000498623.2_5'UTR|ARPC4_ENST00000433034.1_Silent_p.R51R|ARPC4-TTLL3_ENST00000397256.1_Silent_p.R32R|ARPC4_ENST00000287613.7_5'UTR	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa	32					actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					GGTTGTGGAACGACACAACAA	0.582																																					p.R51R		.											.	ARPC4-90	0			c.C151A						.						71.0	71.0	71.0					3																	9839433		2000	4173	6173	SO:0001819	synonymous_variant	10093	exon2			GTGGAACGACACA	AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"""Actin related protein 2/3 complex subunits"""	707	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p20"", ""actin related protein 2/3 complex, subunit 4 (20 kD)"""	604226	"""actin related protein 2/3 complex, subunit 4 (20 kD)"""			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.94C>A	3.37:g.9839433C>A		76	1		87	56	NM_001198780	0	0	0	0	0	C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Silent	SNP	ENST00000397261.3	37	CCDS43047.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604041	0.28534	.	.	ENSG00000250151	ENST00000453882	.	.	.	5.41	2.17	0.27698	.	.	.	.	.	T	0.69441	0.3111	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68830	-0.5305	4	.	.	.	0.3845	15.2975	0.73922	0.3738:0.6262:0.0:0.0	.	.	.	.	K	31	.	.	T	+	2	0	ARPC4-TTLL3	9814433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.447000	0.44917	0.605000	0.29947	0.650000	0.86243	ACG	.		0.582	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258275.2	NM_001024959	
WNT7A	7476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	13896295	13896295	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:13896295G>T	ENST00000285018.4	-	3	608	c.304C>A	c.(304-306)Cgg>Agg	p.R102R		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	102					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GCAGCCTCCCGGCTCCCTGCG	0.627																																					p.R102R		.											.	WNT7A-948	0			c.C304A						.						49.0	50.0	49.0					3																	13896295		2203	4300	6503	SO:0001819	synonymous_variant	7476	exon3			CCTCCCGGCTCCC	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.304C>A	3.37:g.13896295G>T		52	0		62	45	NM_004625	0	0	0	0	0	Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	CCDS2616.1																																																																																			.		0.627	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625	
ZNF385D	79750	broad.mit.edu;bcgsc.ca	37	3	21462870	21462870	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:21462870C>A	ENST00000281523.2	-	8	1542	c.1024G>T	c.(1024-1026)Gct>Tct	p.A342S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	342	Poly-Ala.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						gctgctgcagctgctAGAGGA	0.473																																					p.A342S		.											.	ZNF385D-156	0			c.G1024T						.						37.0	41.0	39.0					3																	21462870		2203	4300	6503	SO:0001583	missense	79750	exon8			CTGCAGCTGCTAG	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1024G>T	3.37:g.21462870C>A	ENSP00000281523:p.Ala342Ser	48	1		57	38	NM_024697	0	0	0	0	0		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345372	0.41498	.	.	ENSG00000151789	ENST00000281523	T	0.32753	1.44	6.08	6.08	0.98989	.	0.054584	0.64402	D	0.000001	T	0.46112	0.1376	L	0.38175	1.15	0.58432	D	0.999997	D	0.63880	0.993	D	0.70227	0.968	T	0.05435	-1.0885	10	0.14656	T	0.56	-40.0643	20.6593	0.99626	0.0:1.0:0.0:0.0	.	342	Q9H6B1	Z385D_HUMAN	S	342	ENSP00000281523:A342S	ENSP00000281523:A342S	A	-	1	0	ZNF385D	21437874	0.994000	0.37717	0.983000	0.44433	0.176000	0.22953	4.651000	0.61447	2.887000	0.99086	0.650000	0.86243	GCT	.		0.473	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
ZCWPW2	152098	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	28454817	28454817	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:28454817G>T	ENST00000383768.2	+	3	446	c.258G>T	c.(256-258)caG>caT	p.Q86H	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.Q86H			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	86							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGCTTCATCAGTGTGGATTTA	0.383																																					p.Q86H		.											.	ZCWPW2-24	0			c.G258T						.						132.0	129.0	130.0					3																	28454817		2203	4300	6503	SO:0001583	missense	152098	exon2			TCATCAGTGTGGA	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.258G>T	3.37:g.28454817G>T	ENSP00000373278:p.Gln86His	124	2		130	98	NM_001040432	0	0	0	0	0		Missense_Mutation	SNP	ENST00000383768.2	37	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.788|9.788	1.177156|1.177156	0.21787|0.21787	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000420223;ENST00000383768;ENST00000421010|ENST00000428875	T;T|.	0.32023|.	1.47;1.47|.	5.41|5.41	0.293|0.293	0.15742|0.15742	.|.	0.966478|.	0.08531|.	N|.	0.932027|.	T|T	0.23410|0.23410	0.0566|0.0566	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P|.	0.36438|.	0.553|.	B|.	0.35510|.	0.204|.	T|T	0.25047|0.25047	-1.0143|-1.0143	10|5	0.59425|.	D|.	0.04|.	-0.3322|-0.3322	3.6796|3.6796	0.08305|0.08305	0.5779:0.0:0.2679:0.1542|0.5779:0.0:0.2679:0.1542	.|.	86|.	Q504Y3|.	ZCPW2_HUMAN|.	H|L	86|70	ENSP00000373278:Q86H;ENSP00000412386:Q86H|.	ENSP00000373278:Q86H|.	Q|V	+|+	3|1	2|0	ZCWPW2|ZCWPW2	28429821|28429821	0.825000|0.825000	0.29262|0.29262	0.024000|0.024000	0.17045|0.17045	0.662000|0.662000	0.39071|0.39071	0.023000|0.023000	0.13533|0.13533	-0.179000|-0.179000	0.10654|0.10654	-1.082000|-1.082000	0.02213|0.02213	CAG|GTG	.		0.383	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384	
TGFBR2	7048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	30713626	30713626	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:30713626G>T	ENST00000295754.5	+	4	1333	c.951G>T	c.(949-951)ttG>ttT	p.L317F	TGFBR2_ENST00000359013.4_Missense_Mutation_p.L342F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	317	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGACGGAGTTGGGGAAACAAT	0.547																																					p.L342F		.											.	TGFBR2-1698	0			c.G1026T						.						91.0	81.0	85.0					3																	30713626		2203	4300	6503	SO:0001583	missense	7048	exon5			GGAGTTGGGGAAA		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.951G>T	3.37:g.30713626G>T	ENSP00000295754:p.Leu317Phe	160	1		113	74	NM_001024847	0	0	0	0	0	B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256823	0.39896	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93547	-3.24;-3.24	5.02	3.2	0.36748	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.468850	0.20281	N	0.095441	D	0.89022	0.6597	L	0.48935	1.535	0.43485	D	0.995714	P;P	0.36144	0.539;0.539	B;B	0.40410	0.225;0.328	D	0.83554	0.0103	10	0.49607	T	0.09	.	1.7044	0.02878	0.1639:0.1305:0.4263:0.2793	.	317;342	P37173;D2JYI1	TGFR2_HUMAN;.	F	317;342;147	ENSP00000295754:L317F;ENSP00000351905:L342F	ENSP00000295754:L317F	L	+	3	2	TGFBR2	30688630	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	0.934000	0.28910	0.498000	0.27948	0.655000	0.94253	TTG	.		0.547	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2		
SCN11A	11280	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	38936044	38936044	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:38936044G>T	ENST00000302328.3	-	15	3013	c.2815C>A	c.(2815-2817)Caa>Aaa	p.Q939K	SCN11A_ENST00000450244.1_Missense_Mutation_p.Q939K|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q939K|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q939K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	939					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCTCAGGTTGTGTGATGCGC	0.493																																					p.Q939K		.											.	SCN11A-99	0			c.C2815A						.						233.0	235.0	235.0					3																	38936044		2203	4300	6503	SO:0001583	missense	11280	exon15			CAGGTTGTGTGAT	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2815C>A	3.37:g.38936044G>T	ENSP00000307599:p.Gln939Lys	119	1		100	55	NM_014139	0	0	0	0	0	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	4.337	0.062003	0.08339	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.2	-0.478	0.12093	Sodium ion transport-associated (1);	17.794200	0.00166	N	0.000000	T	0.76357	0.3976	L	0.50333	1.59	0.09310	N	1	B	0.30146	0.27	B	0.34931	0.192	T	0.54111	-0.8342	10	0.10377	T	0.69	.	2.4129	0.04429	0.0914:0.2516:0.2914:0.3656	.	939	Q9UI33	SCNBA_HUMAN	K	939	ENSP00000307599:Q939K;ENSP00000400945:Q939K;ENSP00000416757:Q939K;ENSP00000408028:Q939K	ENSP00000307599:Q939K	Q	-	1	0	SCN11A	38911048	0.534000	0.26362	0.002000	0.10522	0.008000	0.06430	2.056000	0.41355	0.196000	0.20367	-1.051000	0.02340	CAA	.		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
SCN11A	11280	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	38991675	38991675	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:38991675C>T	ENST00000302328.3	-	1	377	c.179G>A	c.(178-180)aGg>aAg	p.R60K	SCN11A_ENST00000450244.1_Missense_Mutation_p.R60K|SCN11A_ENST00000456224.3_Missense_Mutation_p.R60K|SCN11A_ENST00000444237.2_Missense_Mutation_p.R60K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	60					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCAACTTCCTGGAGGCCTT	0.493																																					p.R60K		.											.	SCN11A-99	0			c.G179A						.						142.0	143.0	143.0					3																	38991675		2203	4300	6503	SO:0001583	missense	11280	exon1			AACTTCCTGGAGG	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.179G>A	3.37:g.38991675C>T	ENSP00000307599:p.Arg60Lys	129	2		111	70	NM_014139	0	0	0	0	0	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568779	0.28003	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.94897	-3.55;-3.55;-3.52;-3.43	5.41	5.41	0.78517	.	0.100237	0.64402	D	0.000002	D	0.84451	0.5475	N	0.08118	0	0.32765	N	0.504521	B	0.27765	0.188	B	0.29267	0.1	T	0.79897	-0.1609	10	0.02654	T	1	.	10.1725	0.42920	0.0:0.9098:0.0:0.0902	.	60	Q9UI33	SCNBA_HUMAN	K	60	ENSP00000307599:R60K;ENSP00000400945:R60K;ENSP00000416757:R60K;ENSP00000408028:R60K	ENSP00000307599:R60K	R	-	2	0	SCN11A	38966679	0.997000	0.39634	1.000000	0.80357	0.612000	0.37316	3.053000	0.49901	2.536000	0.85505	0.655000	0.94253	AGG	.		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
TTC21A	199223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	39151570	39151570	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:39151570G>T	ENST00000431162.2	+	3	342	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	GORASP1_ENST00000319283.3_5'Flank|GORASP1_ENST00000479927.1_5'Flank|TTC21A_ENST00000440121.1_Missense_Mutation_p.D70Y|GORASP1_ENST00000422110.2_5'Flank|TTC21A_ENST00000301819.6_Missense_Mutation_p.D70Y			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	70										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCATCACCCAGACGTGTCCCT	0.522																																					p.D70Y		.											.	TTC21A-91	0			c.G208T						.						109.0	119.0	115.0					3																	39151570		2092	4229	6321	SO:0001583	missense	199223	exon3			CACCCAGACGTGT	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.208G>T	3.37:g.39151570G>T	ENSP00000398211:p.Asp70Tyr	118	0		67	37	NM_001105513	0	0	0	0	0	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425819	0.62733	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.66995	0.25;0.25;-0.24	5.31	4.42	0.53409	Tetratricopeptide-like helical (1);	0.169037	0.38058	N	0.001821	T	0.78368	0.4272	M	0.84846	2.72	0.41352	D	0.987371	D;D;D;D	0.58268	0.982;0.977;0.961;0.977	P;P;P;P	0.58660	0.843;0.742;0.556;0.742	T	0.80618	-0.1302	10	0.87932	D	0	-19.641	8.4785	0.33027	0.0826:0.157:0.7604:0.0	.	70;70;70;70	Q8NDW8-6;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;TT21A_HUMAN;.	Y	70	ENSP00000301819:D70Y;ENSP00000398211:D70Y;ENSP00000410882:D70Y	ENSP00000301819:D70Y	D	+	1	0	TTC21A	39126574	1.000000	0.71417	0.704000	0.30370	0.805000	0.45488	3.286000	0.51724	1.192000	0.43071	0.462000	0.41574	GAC	.		0.522	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
CX3CR1	1524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	39307473	39307473	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:39307473A>T	ENST00000541347.1	-	2	767	c.528T>A	c.(526-528)ctT>ctA	p.L176L	CX3CR1_ENST00000399220.2_Silent_p.L176L|CX3CR1_ENST00000358309.3_Silent_p.L208L|CX3CR1_ENST00000542107.1_Silent_p.L176L	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	176					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGTAGTCACCAAGGCATTCAT	0.517																																					p.L208L		.											.	CX3CR1-658	0			c.T624A						.						105.0	105.0	105.0					3																	39307473		1958	4140	6098	SO:0001819	synonymous_variant	1524	exon2			GTCACCAAGGCAT	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.528T>A	3.37:g.39307473A>T		141	0		94	49	NM_001171174	0	0	0	0	0	A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	CCDS43069.1																																																																																			.		0.517	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337	
CX3CR1	1524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	39307475	39307475	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:39307475G>T	ENST00000541347.1	-	2	765	c.526C>A	c.(526-528)Ctt>Att	p.L176I	CX3CR1_ENST00000399220.2_Missense_Mutation_p.L176I|CX3CR1_ENST00000358309.3_Missense_Mutation_p.L208I|CX3CR1_ENST00000542107.1_Missense_Mutation_p.L176I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	176					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TAGTCACCAAGGCATTCATTT	0.527																																					p.L208I		.											.	CX3CR1-658	0			c.C622A						.						104.0	104.0	104.0					3																	39307475		1962	4143	6105	SO:0001583	missense	1524	exon2			CACCAAGGCATTC	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.526C>A	3.37:g.39307475G>T	ENSP00000439140:p.Leu176Ile	140	0		91	47	NM_001171174	0	0	0	0	0	A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	G	9.321	1.057979	0.19987	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.76	-2.33	0.06724	GPCR, rhodopsin-like superfamily (1);	0.590630	0.17653	N	0.166612	T	0.13713	0.0332	N	0.10945	0.07	0.09310	N	1	P	0.40000	0.698	B	0.38616	0.277	T	0.23833	-1.0177	10	0.22706	T	0.39	.	3.5911	0.07989	0.511:0.1096:0.2676:0.1118	.	176	P49238	CX3C1_HUMAN	I	176;184;208;176;176	ENSP00000382166:L176I;ENSP00000351059:L208I;ENSP00000439140:L176I;ENSP00000444928:L176I	ENSP00000351059:L208I	L	-	1	0	CX3CR1	39282479	0.000000	0.05858	0.035000	0.18076	0.949000	0.60115	-0.698000	0.05092	-0.450000	0.07107	0.655000	0.94253	CTT	.		0.527	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337	
CCDC13	152206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	42787495	42787495	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:42787495C>T	ENST00000310232.6	-	7	828	c.745G>A	c.(745-747)Gac>Aac	p.D249N	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	249										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACGTTGATGTCTTCCCCAACC	0.512																																					p.D249N		.											.	CCDC13-91	0			c.G745A						.						92.0	88.0	90.0					3																	42787495		2203	4300	6503	SO:0001583	missense	152206	exon7			TGATGTCTTCCCC	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.745G>A	3.37:g.42787495C>T	ENSP00000309836:p.Asp249Asn	149	0		100	44	NM_144719	0	0	0	0	0		Missense_Mutation	SNP	ENST00000310232.6	37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976537	0.53720	.	.	ENSG00000244607	ENST00000310232	T	0.23348	1.91	5.08	5.08	0.68730	.	0.157174	0.53938	D	0.000060	T	0.30885	0.0779	L	0.47016	1.485	0.50813	D	0.999895	D	0.53312	0.959	P	0.49226	0.603	T	0.02797	-1.1109	10	0.14252	T	0.57	.	17.2515	0.87043	0.0:1.0:0.0:0.0	.	249	Q8IYE1	CCD13_HUMAN	N	249	ENSP00000309836:D249N	ENSP00000309836:D249N	D	-	1	0	CCDC13	42762499	1.000000	0.71417	0.985000	0.45067	0.120000	0.20174	4.855000	0.62925	2.372000	0.80975	0.655000	0.94253	GAC	.		0.512	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719	
EXOSC7	23016	bcgsc.ca	37	3	45052775	45052775	+	Missense_Mutation	SNP	G	G	C	rs6794	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:45052775G>C	ENST00000265564.7	+	8	868	c.820G>C	c.(820-822)Gtg>Ctg	p.V274L	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	274			V -> L (in dbSNP:rs6794). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21269460, ECO:0000269|PubMed:7788527}.		exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GCAGAGTGTTGTGCACAAGGA	0.517													C|||	3535	0.705871	0.7269	0.6239	5008	,	,		17322	0.9008		0.4841	False		,,,				2504	0.7628				p.V274L		.											.	EXOSC7-90	0			c.G820C						.	C	LEU/VAL	2989,1417	462.4+/-353.2	1008,973,222	88.0	74.0	79.0		820	2.9	0.0	3	dbSNP_52	79	4411,4189	568.3+/-389.0	1124,2163,1013	yes	missense	EXOSC7	NM_015004.3	32	2132,3136,1235	CC,CG,GG		48.7093,32.1607,43.1032	benign	274/292	45052775	7400,5606	2203	4300	6503	SO:0001583	missense	23016	exon8			AGTGTTGTGCACA	BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.820G>C	3.37:g.45052775G>C	ENSP00000265564:p.Val274Leu	175	1		123	6	NM_015004	0	0	0	0	0	Q96E72	Missense_Mutation	SNP	ENST00000265564.7	37	CCDS2725.1	1472	0.673992673992674	352	0.7154471544715447	219	0.6049723756906077	525	0.9178321678321678	376	0.49604221635883905	C	0.007	-1.965217	0.00461	0.678393	0.512907	ENSG00000075914	ENST00000265564	T	0.35236	1.32	6.04	2.93	0.34026	.	0.000000	0.85682	N	0.000000	T	0.00012	0.0000	N	0.00010	-3.02	0.09310	P	0.999999868643	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35325	-0.9793	9	0.02654	T	1	-2.5299	4.791	0.13248	0.0:0.4471:0.1569:0.3961	rs6794;rs1059918;rs3200759;rs17856408;rs58708695;rs6794	274;274	B2RDZ9;Q15024	.;EXOS7_HUMAN	L	274	ENSP00000265564:V274L	ENSP00000265564:V274L	V	+	1	0	EXOSC7	45027779	0.422000	0.25473	0.001000	0.08648	0.006000	0.05464	0.951000	0.29135	0.170000	0.19704	-2.319000	0.00253	GTG	G|0.396;C|0.604		0.517	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004	
CSPG5	10675	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	47618883	47618883	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:47618883G>C	ENST00000383738.2	-	2	2731	c.633C>G	c.(631-633)gaC>gaG	p.D211E	CSPG5_ENST00000456150.1_Missense_Mutation_p.D73E|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Missense_Mutation_p.D211E	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	211					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTTCGAAGTAGTCGATGTCAA	0.592																																					p.D211E		.											.	CSPG5-91	0			c.C633G						.						53.0	55.0	54.0					3																	47618883		2203	4300	6503	SO:0001583	missense	10675	exon2			GAAGTAGTCGATG	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.633C>G	3.37:g.47618883G>C	ENSP00000373244:p.Asp211Glu	78	1		55	29	NM_006574	0	0	0	0	0	Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452466	0.84209	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.59638	0.25;0.25;0.25	4.26	3.36	0.38483	Chondroitin sulphate attachment (1);	0.124646	0.52532	D	0.000063	T	0.62085	0.2399	L	0.29908	0.895	0.37924	D	0.931796	D;D	0.69078	0.997;0.996	D;D	0.77557	0.936;0.99	T	0.67043	-0.5770	10	0.66056	D	0.02	-25.9588	10.2766	0.43515	0.1014:0.0:0.8986:0.0	.	211;211	O95196;O95196-2	CSPG5_HUMAN;.	E	73;211;211	ENSP00000392096:D73E;ENSP00000373244:D211E;ENSP00000264723:D211E	ENSP00000264723:D211E	D	-	3	2	CSPG5	47593887	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.748000	0.38308	1.100000	0.41517	0.643000	0.83706	GAC	.		0.592	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574	
COL7A1	1294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	48607044	48607044	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:48607044C>G	ENST00000328333.8	-	101	7702	c.7595G>C	c.(7594-7596)cGg>cCg	p.R2532P	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2500P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2532	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTGGCACCCCGTGGGCCTGG	0.701																																					p.R2532P		.											.	COL7A1-160	0			c.G7595C						.						34.0	38.0	37.0					3																	48607044		2203	4299	6502	SO:0001583	missense	1294	exon101			GCACCCCGTGGGC	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7595G>C	3.37:g.48607044C>G	ENSP00000332371:p.Arg2532Pro	86	0		75	44	NM_000094	0	0	0	0	0	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	9.869	1.198374	0.22037	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93811	-3.29;-3.29	5.58	-3.51	0.04696	.	0.607787	0.13447	N	0.387219	T	0.76442	0.3988	N	0.01874	-0.695	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.67719	-0.5598	10	0.21540	T	0.41	.	5.9524	0.19255	0.0:0.2906:0.3502:0.3592	.	2532	Q02388	CO7A1_HUMAN	P	2532;2500	ENSP00000332371:R2532P;ENSP00000412569:R2500P	ENSP00000332371:R2532P	R	-	2	0	COL7A1	48582048	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.413000	0.02473	-0.849000	0.04158	0.591000	0.81541	CGG	.		0.701	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
GMPPB	29925	broad.mit.edu	37	3	49755684	49755684	+	3'UTR	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:49755684T>G	ENST00000480687.1	-	0	4700				AMIGO3_ENST00000535833.1_Silent_p.P405P|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.P405P|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000327697.6_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		agcggcagGGTGGGGCGAACA	0.672																																					p.P405P		.											.	AMIGO3-91	0			c.A1215C						.						39.0	40.0	40.0					3																	49755684		2199	4300	6499	SO:0001624	3_prime_UTR_variant	386724	exon1			GCAGGGTGGGGCG	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3501A>C	3.37:g.49755684T>G		38	1		102	21	NM_198722	0	0	0	0	0	A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	CCDS2803.1																																																																																			.		0.672	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334	
DNAH1	25981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	52402787	52402787	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:52402787G>T	ENST00000420323.2	+	37	6057	c.5796G>T	c.(5794-5796)cgG>cgT	p.R1932R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1932	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGTTCATCCGGGCGGGGGCCA	0.597																																					p.R1932R		.											.	DNAH1-67	0			c.G5796T						.						126.0	131.0	130.0					3																	52402787		2025	4173	6198	SO:0001819	synonymous_variant	25981	exon37			CATCCGGGCGGGG	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5796G>T	3.37:g.52402787G>T		184	0		144	78	NM_015512	0	0	0	0	0	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	CCDS46842.1																																																																																			.		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
DNAH12	201625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	57458294	57458294	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:57458294G>T	ENST00000351747.2	-	14	1935	c.1755C>A	c.(1753-1755)ccC>ccA	p.P585P	snoU13_ENST00000459308.1_RNA|DNAH12_ENST00000389536.4_Silent_p.P585P	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	585	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CATCAAAGATGGGATTAATTT	0.313																																					p.P585P		.											.	DNAH12-47	0			c.C1755A						.						118.0	98.0	104.0					3																	57458294		692	1588	2280	SO:0001819	synonymous_variant	201625	exon14			AAAGATGGGATTA	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1755C>A	3.37:g.57458294G>T		249	0		207	118	NM_178504	0	0	0	0	0	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37																																																																																				.		0.313	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504	
CADPS	8618	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	62535700	62535700	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:62535700C>A	ENST00000383710.4	-	11	2193	c.1844G>T	c.(1843-1845)tGg>tTg	p.W615L	CADPS_ENST00000357948.3_Missense_Mutation_p.W615L|CADPS_ENST00000283269.9_Missense_Mutation_p.W615L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	615	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGCCTGGACCCACAGGATGCG	0.567																																					p.W615L		.											.	CADPS-281	0			c.G1844T						.						157.0	141.0	147.0					3																	62535700		2203	4300	6503	SO:0001583	missense	8618	exon11			TGGACCCACAGGA	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1844G>T	3.37:g.62535700C>A	ENSP00000373215:p.Trp615Leu	175	0		166	90	NM_003716	0	0	0	0	0	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.750323|4.750323	0.89753|0.89753	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000478434|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	.|T;T;T;D	.|0.97016	.|0.52;0.54;0.52;-4.21	4.71|4.71	4.71|4.71	0.59529|0.59529	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98074|0.98074	0.9365|0.9365	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.998;0.996;0.999;0.998	.|D;D;D;D	.|0.85130	.|0.947;0.993;0.997;0.972	D|D	0.98797|0.98797	1.0738|1.0738	5|10	.|0.72032	.|D	.|0.01	.|.	18.2011|18.2011	0.89838|0.89838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|615;615;615;615	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	W|L	46|615;615;615;615;110	.|ENSP00000373215:W615L;ENSP00000350632:W615L;ENSP00000283269:W615L;ENSP00000439528:W110L	.|ENSP00000283269:W615L	G|W	-|-	1|2	0|0	CADPS|CADPS	62510740|62510740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.609000|7.609000	0.82925|0.82925	2.612000|2.612000	0.88384|0.88384	0.585000|0.585000	0.79938|0.79938	GGG|TGG	.		0.567	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
LRIG1	26018	hgsc.bcm.edu	37	3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C	rs1403625	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3.0	4.0	4.0		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	0	0		5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
LRIG1	26018	hgsc.bcm.edu	37	3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	rs1403626	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3.0	4.0	4.0		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	0	0		5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
ROBO2	6092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	77607213	77607213	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:77607213C>A	ENST00000461745.1	+	9	2250	c.1350C>A	c.(1348-1350)agC>agA	p.S450R	ROBO2_ENST00000487694.3_Missense_Mutation_p.S466R|ROBO2_ENST00000332191.8_Missense_Mutation_p.S450R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	450	Ig-like C2-type 5.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTGTAATTAGCTGGTTAAAGG	0.438																																					p.S450R		.											.	ROBO2-328	0			c.C1350A						.						112.0	112.0	112.0					3																	77607213		1881	4107	5988	SO:0001583	missense	6092	exon9			AATTAGCTGGTTA	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1350C>A	3.37:g.77607213C>A	ENSP00000417164:p.Ser450Arg	173	0		130	70	NM_002942	0	0	0	0	0	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	9.409	1.080126	0.20309	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.69926	-0.44;-0.44;-0.44	5.68	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000038	T	0.53270	0.1786	N	0.12831	0.26	0.43471	D	0.995684	B;P;B	0.46327	0.05;0.876;0.05	B;P;B	0.48952	0.101;0.596;0.101	T	0.57418	-0.7815	9	0.10377	T	0.69	.	13.1246	0.59346	0.0:0.9258:0.0:0.0742	.	466;450;450	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	R	466;466;470;450;450;171	ENSP00000417335:S466R;ENSP00000417164:S450R;ENSP00000327536:S450R	ENSP00000327536:S450R	S	+	3	2	ROBO2	77689903	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.068000	0.57534	1.542000	0.49330	0.585000	0.79938	AGC	.		0.438	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO1	6091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	78795964	78795964	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:78795964C>A	ENST00000464233.1	-	5	699	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	ROBO1_ENST00000436010.2_Missense_Mutation_p.G157C|ROBO1_ENST00000467549.1_Missense_Mutation_p.G157C|ROBO1_ENST00000495273.1_Missense_Mutation_p.G157C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	196	Ig-like C2-type 2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCAGGATGGCCTCGTGGAGGT	0.458																																					p.G196C		.											.	ROBO1-67	0			c.G586T						.						126.0	125.0	125.0					3																	78795964		1912	4118	6030	SO:0001583	missense	6091	exon5			GATGGCCTCGTGG	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.586G>T	3.37:g.78795964C>A	ENSP00000420321:p.Gly196Cys	97	0		79	44	NM_002941	0	0	0	0	0	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529306	0.64860	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93602	0.7957	H	0.96547	3.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94871	0.8030	9	.	.	.	.	20.1133	0.97917	0.0:1.0:0.0:0.0	.	196;157;157;157	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	C	157;157;196;157;157;196	ENSP00000406043:G157C;ENSP00000420321:G196C;ENSP00000420637:G157C;ENSP00000417992:G157C	.	G	-	1	0	ROBO1	78878654	1.000000	0.71417	0.997000	0.53966	0.013000	0.08279	7.818000	0.86416	2.762000	0.94881	0.591000	0.81541	GGC	.		0.458	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
POU1F1	5449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	87322579	87322579	+	Intron	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:87322579C>A	ENST00000350375.2	-	2	267				POU1F1_ENST00000560656.1_Intron|POU1F1_ENST00000344265.3_Missense_Mutation_p.L70F	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1						B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L70L(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		CTGTGTTTCCCAACGTTGTCA	0.398																																					p.L70F		.											.	POU1F1-226	1	Substitution - coding silent(1)	endometrium(1)	c.G210T						.						105.0	92.0	96.0					3																	87322579		2203	4300	6503	SO:0001627	intron_variant	5449	exon2			GTTTCCCAACGTT	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.143-11G>T	3.37:g.87322579C>A		156	0		79	46	NM_001122757	0	0	0	0	0	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274636	0.23307	.	.	ENSG00000064835	ENST00000344265	T	0.63744	-0.06	5.78	3.74	0.42951	.	0.883066	0.09818	N	0.751879	T	0.52451	0.1735	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33240	-0.9876	8	.	.	.	.	16.2012	0.82078	0.2535:0.7465:0.0:0.0	.	70	P28069-2	.	F	70	ENSP00000342931:L70F	.	L	-	3	2	POU1F1	87405269	0.746000	0.28272	0.970000	0.41538	0.433000	0.31745	0.455000	0.21843	1.370000	0.46153	0.585000	0.79938	TTG	.		0.398	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306	
PROS1	5627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	93617357	93617357	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:93617357C>A	ENST00000394236.3	-	8	1100	c.784G>T	c.(784-786)Ggt>Tgt	p.G262C	PROS1_ENST00000407433.1_Missense_Mutation_p.G131C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	262	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CAAGTGTAACCTCCAGGGTAA	0.388																																					p.G262C		.											.	PROS1-153	0			c.G784T						.						97.0	90.0	92.0					3																	93617357		2203	4300	6503	SO:0001583	missense	5627	exon8			TGTAACCTCCAGG		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.784G>T	3.37:g.93617357C>A	ENSP00000377783:p.Gly262Cys	171	0		175	35	NM_000313	0	0	0	0	0	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407097	0.62399	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.93659	-3.26;-3.26	4.26	2.12	0.27331	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.165191	0.52532	D	0.000069	D	0.94026	0.8086	M	0.80616	2.505	0.36882	D	0.88947	D	0.69078	0.997	P	0.54499	0.754	D	0.92895	0.6334	10	0.66056	D	0.02	.	6.2034	0.20590	0.0:0.4374:0.0:0.5626	.	262	P07225	PROS_HUMAN	C	262;131	ENSP00000377783:G262C;ENSP00000385794:G131C	ENSP00000377783:G262C	G	-	1	0	PROS1	95100047	0.990000	0.36364	0.924000	0.36721	0.971000	0.66376	0.892000	0.28322	0.371000	0.24564	0.585000	0.79938	GGT	.		0.388	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	
EPHA6	285220	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	97466266	97466266	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:97466266G>T	ENST00000389672.5	+	17	3166		c.e17-1			NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6							integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ttttCTTACAGAATGCCAGAG	0.353																																					.		.											.	EPHA6-1561	0			c.3129-1G>T						.						50.0	45.0	46.0					3																	97466266		1819	4081	5900	SO:0001630	splice_region_variant	285220	exon17			CTTACAGAATGCC	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3129-1G>T	3.37:g.97466266G>T		61	1		47	15	NM_001080448	0	0	0	0	0	D6RAL5	Splice_Site	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210353	0.58343	.	.	ENSG00000080224	ENST00000389672	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5176	0.95170	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA6	98948956	1.000000	0.71417	0.997000	0.53966	0.652000	0.38707	5.803000	0.69129	2.688000	0.91661	0.585000	0.79938	.	.		0.353	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	Intron
OR5AC2	81050	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	97806110	97806110	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:97806110G>T	ENST00000358642.2	+	1	94	c.94G>T	c.(94-96)Gtg>Ttg	p.V32L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	32					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTTCTTTGTTGTGTTTTTGGT	0.443																																					p.V32L		.											.	OR5AC2-69	0			c.G94T						.						302.0	278.0	286.0					3																	97806110		2203	4300	6503	SO:0001583	missense	81050	exon1			TTTGTTGTGTTTT	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.94G>T	3.37:g.97806110G>T	ENSP00000351466:p.Val32Leu	160	2		169	38	NM_054106	0	0	0	0	0		Missense_Mutation	SNP	ENST00000358642.2	37	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	6.751	0.507303	0.12883	.	.	ENSG00000196578	ENST00000358642	T	0.00682	5.86	5.2	-2.72	0.05968	.	0.524818	0.14033	U	0.345981	T	0.00412	0.0013	N	0.05351	-0.065	0.09310	N	1	B	0.14805	0.011	B	0.17979	0.02	T	0.45264	-0.9273	10	0.02654	T	1	-4.7012	7.7808	0.29064	0.2485:0.5296:0.222:0.0	.	32	Q9NZP5	O5AC2_HUMAN	L	32	ENSP00000351466:V32L	ENSP00000351466:V32L	V	+	1	0	OR5AC2	99288800	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-5.368000	0.00128	-0.020000	0.14032	0.596000	0.82720	GTG	.		0.443	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1		
OR5H2	79310	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	98002120	98002120	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:98002120C>A	ENST00000355273.2	+	1	389	c.389C>A	c.(388-390)gCc>gAc	p.A130D	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CGCTATGTAGCCATATGCAAA	0.373																																					p.A130D		.											.	OR5H2-71	0			c.C389A						.						111.0	103.0	105.0					3																	98002120		2203	4300	6503	SO:0001583	missense	79310	exon1			ATGTAGCCATATG		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.389C>A	3.37:g.98002120C>A	ENSP00000347418:p.Ala130Asp	122	1		147	54	NM_001005482	0	0	0	0	0	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091708	0.76756	.	.	ENSG00000197938	ENST00000355273	T	0.01234	5.13	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	U	0.001349	T	0.16599	0.0399	H	0.99299	4.505	0.41608	D	0.988895	D	0.89917	1.0	D	0.97110	1.0	T	0.31530	-0.9940	10	0.87932	D	0	.	12.205	0.54346	0.0:1.0:0.0:0.0	.	130	Q8NGV7	OR5H2_HUMAN	D	130	ENSP00000347418:A130D	ENSP00000347418:A130D	A	+	2	0	OR5H2	99484810	1.000000	0.71417	0.902000	0.35471	0.989000	0.77384	7.045000	0.76585	1.787000	0.52448	0.543000	0.68304	GCC	.		0.373	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2		
IMPG2	50939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	100948383	100948383	+	Missense_Mutation	SNP	C	C	G	rs566459355		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:100948383C>G	ENST00000193391.7	-	17	3661	c.3474G>C	c.(3472-3474)aaG>aaC	p.K1158N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1158					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CGGGGTTGTACTTCACAGCAT	0.488																																					p.K1158N		.											.	IMPG2-93	0			c.G3474C						.						79.0	77.0	78.0					3																	100948383		2203	4300	6503	SO:0001583	missense	50939	exon17			GTTGTACTTCACA	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3474G>C	3.37:g.100948383C>G	ENSP00000193391:p.Lys1158Asn	74	0		93	54	NM_016247	0	0	0	0	0	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623199	0.66901	.	.	ENSG00000081148	ENST00000193391;ENST00000417518	T	0.35048	1.33	5.5	1.75	0.24633	.	0.141780	0.47852	D	0.000213	T	0.51770	0.1694	M	0.70275	2.135	0.41006	D	0.984961	D;D	0.71674	0.998;0.998	P;P	0.62560	0.904;0.904	T	0.52888	-0.8515	10	0.87932	D	0	-12.0856	10.1966	0.43058	0.0:0.5997:0.0:0.4003	.	1158;1158	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	N	1158;55	ENSP00000193391:K1158N	ENSP00000193391:K1158N	K	-	3	2	IMPG2	102431073	0.921000	0.31238	0.287000	0.24848	0.948000	0.59901	0.081000	0.14823	0.048000	0.15891	0.655000	0.94253	AAG	.		0.488	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
MORC1	27136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	108812300	108812300	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:108812300C>A	ENST00000483760.1	-	8	715	c.672G>T	c.(670-672)atG>atT	p.M224I	MORC1_ENST00000232603.5_Missense_Mutation_p.M224I					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAGCTCCAGCCATCAGTATAT	0.428																																					p.M224I		.											.	MORC1-98	0			c.G672T						.						159.0	142.0	148.0					3																	108812300		2203	4300	6503	SO:0001583	missense	27136	exon8			TCCAGCCATCAGT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.672G>T	3.37:g.108812300C>A	ENSP00000417282:p.Met224Ile	79	0		79	12	NM_014429	0	0	0	0	0		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	C	2.980	-0.210580	0.06140	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.72725	-0.68;-0.68	4.75	-3.0	0.05480	ATPase-like, ATP-binding domain (1);	0.695782	0.13420	N	0.389276	T	0.39963	0.1098	N	0.11724	0.165	0.23773	N	0.996882	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.30297	-0.9983	10	0.08179	T	0.78	-5.0E-4	4.5249	0.11976	0.2453:0.368:0.0:0.3866	.	224;224	E7ERX1;Q86VD1	.;MORC1_HUMAN	I	224	ENSP00000232603:M224I;ENSP00000417282:M224I	ENSP00000232603:M224I	M	-	3	0	MORC1	110294990	0.915000	0.31059	0.323000	0.25347	0.250000	0.25880	0.141000	0.16076	-0.246000	0.09611	-0.145000	0.13849	ATG	.		0.428	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
SLC9C1	285335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	111898522	111898522	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:111898522C>T	ENST00000305815.5	-	23	3027	c.2775G>A	c.(2773-2775)ggG>ggA	p.G925G	SLC9C1_ENST00000487372.1_Silent_p.G877G	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	925					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTTGATCAATCCCTAAACCTG	0.333																																					p.G925G		.											.	.	0			c.G2775A						.						62.0	62.0	62.0					3																	111898522		2203	4299	6502	SO:0001819	synonymous_variant	285335	exon23			ATCAATCCCTAAA	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2775G>A	3.37:g.111898522C>T		23	0		20	11	NM_183061	0	0	0	0	0	Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	CCDS33817.1																																																																																			.		0.333	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
BOC	91653	broad.mit.edu;bcgsc.ca	37	3	112992151	112992151	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:112992151C>A	ENST00000495514.1	+	8	1901	c.1197C>A	c.(1195-1197)agC>agA	p.S399R	BOC_ENST00000273395.4_Missense_Mutation_p.S399R|BOC_ENST00000355385.3_Missense_Mutation_p.S399R			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	399	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGGTTGGGAGCGCCCATGCCG	0.622																																					p.S399R		.											.	BOC-157	0			c.C1197A						.						34.0	25.0	28.0					3																	112992151		2200	4296	6496	SO:0001583	missense	91653	exon8			TGGGAGCGCCCAT	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1197C>A	3.37:g.112992151C>A	ENSP00000418663:p.Ser399Arg	67	2		124	76	NM_033254	0	0	0	0	0	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984268	0.35036	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.68025	-0.3;-0.3;-0.3	5.66	-8.47	0.00939	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	L	0.27053	0.805	0.38023	D	0.934905	D;D	0.76494	0.999;0.999	D;D	0.79108	0.987;0.992	T	0.78537	-0.2166	10	0.56958	D	0.05	.	21.5782	0.99957	0.0:0.2939:0.0:0.7061	.	399;399	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	R	399	ENSP00000418663:S399R;ENSP00000273395:S399R;ENSP00000347546:S399R	ENSP00000273395:S399R	S	+	3	2	BOC	114474841	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-3.107000	0.00601	-2.378000	0.00596	-1.945000	0.00491	AGC	.		0.622	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
SIDT1	54847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	113304098	113304098	+	Missense_Mutation	SNP	G	G	T	rs199757460		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:113304098G>T	ENST00000264852.4	+	9	1708	c.982G>T	c.(982-984)Ggg>Tgg	p.G328W	SIDT1_ENST00000393830.3_Missense_Mutation_p.G328W	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	328					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCTTCTTGTTGGGTTTGTTCA	0.408																																					p.G328W		.											.	SIDT1-95	0			c.G982T						.						380.0	346.0	358.0					3																	113304098		2203	4300	6503	SO:0001583	missense	54847	exon9			CTTGTTGGGTTTG	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.982G>T	3.37:g.113304098G>T	ENSP00000264852:p.Gly328Trp	107	0		101	54	NM_017699	0	0	0	0	0	Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707815	0.48412	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.21932	1.98;1.98	5.62	4.72	0.59763	.	0.390084	0.24386	N	0.038967	T	0.18676	0.0448	N	0.03608	-0.345	0.25030	N	0.991272	P;P	0.51653	0.947;0.937	P;P	0.54856	0.649;0.762	T	0.20405	-1.0276	10	0.42905	T	0.14	-0.0435	15.3108	0.74031	0.0:0.0:0.8485:0.1515	.	328;328	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	W	328	ENSP00000264852:G328W;ENSP00000377416:G328W	ENSP00000264852:G328W	G	+	1	0	SIDT1	114786788	0.940000	0.31905	0.046000	0.18839	0.493000	0.33554	2.774000	0.47694	1.430000	0.47334	0.655000	0.94253	GGG	G|1.000;A|0.000		0.408	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	
IGSF11	152404	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	118621406	118621406	+	Silent	SNP	G	G	T	rs148424020		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:118621406G>T	ENST00000393775.2	-	7	1562	c.1257C>A	c.(1255-1257)gtC>gtA	p.V419V	IGSF11_ENST00000425327.2_Silent_p.V418V|IGSF11_ENST00000491903.1_Silent_p.V391V|IGSF11_ENST00000354673.2_Silent_p.V418V|IGSF11_ENST00000489689.1_Silent_p.V395V|IGSF11_ENST00000441144.2_Silent_p.V394V	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	419					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGGTACCATGACAGGTACTG	0.527																																					p.V419V		.											.	IGSF11-90	0			c.C1257A						.						137.0	126.0	130.0					3																	118621406		2203	4300	6503	SO:0001819	synonymous_variant	152404	exon7			TACCATGACAGGT	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1257C>A	3.37:g.118621406G>T		164	0		151	15	NM_001015887	0	0	0	0	0	C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	CCDS46891.1																																																																																			G|1.000;A|0.000		0.527	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2		
LRRC58	116064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	120053716	120053716	+	Missense_Mutation	SNP	C	C	A	rs34873834		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:120053716C>A	ENST00000295628.3	-	3	995	c.900G>T	c.(898-900)aaG>aaT	p.K300N		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	300										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TACCTCCACACTTTGGGTTTG	0.363																																					p.K300N		.											.	.	0			c.G900T						.						52.0	46.0	48.0					3																	120053716		1815	4079	5894	SO:0001583	missense	116064	exon3			TCCACACTTTGGG	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.900G>T	3.37:g.120053716C>A	ENSP00000295628:p.Lys300Asn	92	0		93	12	NM_001099678	0	0	0	0	0		Missense_Mutation	SNP	ENST00000295628.3	37	CCDS46892.1	.	.	.	.	.	.	.	.	.	.	C	7.969	0.748740	0.15710	.	.	ENSG00000163428	ENST00000295628	T	0.41400	1.0	5.18	-0.993	0.10228	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.42744	1.35	0.49582	D	0.999805	D	0.62365	0.991	P	0.58013	0.831	T	0.20874	-1.0262	10	0.26408	T	0.33	-15.4348	10.5703	0.45196	0.0:0.466:0.0:0.534	.	300	Q96CX6	LRC58_HUMAN	N	300	ENSP00000295628:K300N	ENSP00000295628:K300N	K	-	3	2	LRRC58	121536406	0.867000	0.29959	0.993000	0.49108	0.904000	0.53231	-0.016000	0.12613	-0.256000	0.09473	-1.936000	0.00505	AAG	.		0.363	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296	
HGD	3081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	120347254	120347254	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:120347254G>T	ENST00000283871.5	-	14	1770	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	437					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTTCCTGGAGTTGGGAGTGA	0.468																																					p.N437K		.											.	HGD-68	0			c.C1311A						.						189.0	186.0	187.0					3																	120347254		2203	4296	6499	SO:0001583	missense	3081	exon14			CCTGGAGTTGGGA		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1311C>A	3.37:g.120347254G>T	ENSP00000283871:p.Asn437Lys	118	0		120	20	NM_000187	0	0	0	0	0	A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	G	9.653	1.142054	0.21205	.	.	ENSG00000113924	ENST00000283871	D	0.98978	-5.29	5.02	-4.71	0.03279	Cupin, RmlC-type (1);	0.287715	0.36167	N	0.002741	D	0.95271	0.8466	L	0.41415	1.275	0.34915	D	0.747828	B	0.02656	0.0	B	0.04013	0.001	D	0.86513	0.1811	10	0.18710	T	0.47	-5.4857	7.078	0.25215	0.1867:0.1215:0.573:0.1188	.	437	Q93099	HGD_HUMAN	K	437	ENSP00000283871:N437K	ENSP00000283871:N437K	N	-	3	2	HGD	121829944	0.967000	0.33354	0.778000	0.31720	0.342000	0.28953	0.142000	0.16096	-0.406000	0.07588	-1.264000	0.01445	AAC	.		0.468	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1		
FBXO40	51725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	121340603	121340603	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:121340603C>T	ENST00000338040.4	+	3	741	c.327C>T	c.(325-327)acC>acT	p.T109T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	109					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACTCTGAAACCACCCTTCATG	0.562																																					p.T109T		.											.	FBXO40-273	0			c.C327T						.						54.0	58.0	56.0					3																	121340603		2203	4300	6503	SO:0001819	synonymous_variant	51725	exon3			TGAAACCACCCTT	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.327C>T	3.37:g.121340603C>T		72	0		95	50	NM_016298	0	0	0	0	0	B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	CCDS33835.1																																																																																			.		0.562	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
SEMA5B	54437	hgsc.bcm.edu	37	3	122631896	122631896	+	Missense_Mutation	SNP	A	A	T	rs2276782	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:122631896A>T	ENST00000357599.3	-	18	2905	c.2519T>A	c.(2518-2520)gTc>gAc	p.V840D	SEMA5B_ENST00000195173.4_Missense_Mutation_p.V839D|SEMA5B_ENST00000451055.2_Missense_Mutation_p.V894D	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	840			V -> D (in dbSNP:rs2276782). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCGCAGGAGGACCTCCACCAG	0.791													T|||	3010	0.601038	0.5348	0.621	5008	,	,		11243	0.3522		0.8082	False		,,,				2504	0.7198				p.V894D		.											.	SEMA5B-157	0			c.T2681A						.	T	ASP/VAL	2573,1477		827,919,279	4.0	5.0	5.0		2519	5.0	1.0	3	dbSNP_100	5	6625,1195		2828,969,113	no	missense	SEMA5B	NM_001031702.2	152	3655,1888,392	TT,TA,AA		15.2813,36.4691,22.5105	benign	840/1152	122631896	9198,2672	2025	3910	5935	SO:0001583	missense	54437	exon18			AGGAGGACCTCCA	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2519T>A	3.37:g.122631896A>T	ENSP00000350215:p.Val840Asp	1	0		25	18	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	1286	0.5888278388278388	247	0.5020325203252033	243	0.6712707182320442	193	0.3374125874125874	603	0.7955145118733509	T	5.344	0.248763	0.10130	0.635309	0.847187	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.34072	1.43;1.38;1.48;1.5	5.01	5.01	0.66863	.	0.161766	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00246	-1.78	0.30182	P	0.8002819999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	9	0.02654	T	1	.	10.6514	0.45651	0.1435:0.0:0.0:0.8565	rs2276782	782;840	D3YTI7;Q9P283	.;SEM5B_HUMAN	D	840;839;782;894;840	ENSP00000350215:V840D;ENSP00000195173:V839D;ENSP00000389588:V894D;ENSP00000377208:V840D	ENSP00000195173:V839D	V	-	2	0	SEMA5B	124114586	1.000000	0.71417	0.990000	0.47175	0.785000	0.44390	4.886000	0.63149	0.945000	0.37605	-0.257000	0.10917	GTC	T|0.412;A|0.588		0.791	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
SEMA5B	54437	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	122680055	122680055	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:122680055G>T	ENST00000357599.3	-	2	442	c.56C>A	c.(55-57)cCt>cAt	p.P19H	SEMA5B_ENST00000465147.1_Intron|SEMA5B_ENST00000195173.4_Missense_Mutation_p.P19H|SEMA5B_ENST00000451055.2_Missense_Mutation_p.P73H	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	19					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGGGTATCAGGCGGCCCAGG	0.632																																					p.P73H		.											.	SEMA5B-157	0			c.C218A						.						74.0	66.0	69.0					3																	122680055		2203	4300	6503	SO:0001583	missense	54437	exon2			GTATCAGGCGGCC	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.56C>A	3.37:g.122680055G>T	ENSP00000350215:p.Pro19His	248	1		297	159	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215497	0.39102	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000451055;ENST00000393583;ENST00000421053;ENST00000449546	T;T;T;T	0.36699	1.31;1.24;1.3;1.41	4.15	-0.165	0.13355	.	.	.	.	.	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.21917	0.037	T	0.19321	-1.0309	9	0.87932	D	0	.	4.1852	0.10395	0.2347:0.3701:0.3952:0.0	.	19	Q9P283	SEM5B_HUMAN	H	19;19;73;19;19;19	ENSP00000350215:P19H;ENSP00000195173:P19H;ENSP00000389588:P73H;ENSP00000377208:P19H	ENSP00000195173:P19H	P	-	2	0	SEMA5B	124162745	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.158000	0.10070	0.336000	0.23639	0.591000	0.81541	CCT	.		0.632	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
KALRN	8997	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	124017695	124017695	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:124017695G>C	ENST00000240874.3	+	6	1178	c.1021G>C	c.(1021-1023)Gga>Cga	p.G341R	KALRN_ENST00000460856.1_Missense_Mutation_p.G341R|KALRN_ENST00000360013.3_Missense_Mutation_p.G341R	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	341					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACGGAGATCGGAGTCAGCTA	0.522																																					p.G341R		.											.	KALRN-738	0			c.G1021C						.						212.0	191.0	198.0					3																	124017695		2203	4300	6503	SO:0001583	missense	8997	exon6			GAGATCGGAGTCA	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1021G>C	3.37:g.124017695G>C	ENSP00000240874:p.Gly341Arg	178	0		214	107	NM_003947	0	0	0	0	0	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242015	0.95272	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.57595	0.39;0.39;0.39	5.55	5.55	0.83447	.	0.138313	0.47852	D	0.000207	T	0.75874	0.3909	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.985	T	0.77776	-0.2461	10	0.87932	D	0	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	341;341;341	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	R	341	ENSP00000418611:G341R;ENSP00000240874:G341R;ENSP00000353109:G341R	ENSP00000240874:G341R	G	+	1	0	KALRN	125500385	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.894000	0.99253	0.655000	0.94253	GGA	.		0.522	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
ALDH1L1	10840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	125869263	125869263	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:125869263C>A	ENST00000393434.2	-	8	1319	c.970G>T	c.(970-972)Gcg>Tcg	p.A324S	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A324S|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A334S|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A324S|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A223S	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	324	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACAGCCTCCGCAGTAACCAGC	0.557																																					p.A334S		.											.	ALDH1L1-156	0			c.G1000T						.						56.0	52.0	53.0					3																	125869263		1897	3590	5487	SO:0001583	missense	10840	exon8			CCTCCGCAGTAAC	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.970G>T	3.37:g.125869263C>A	ENSP00000377083:p.Ala324Ser	261	0		291	73	NM_001270364	0	0	0	0	0	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	5.251	0.231815	0.09969	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;3.27	4.4	3.45	0.39498	Acyl carrier protein-like (3);	0.213054	0.39341	N	0.001387	T	0.58250	0.2109	L	0.34521	1.04	0.38564	D	0.949782	B;B;B	0.23058	0.079;0.009;0.005	B;B;B	0.23852	0.049;0.006;0.004	T	0.52682	-0.8543	10	0.31617	T	0.26	.	4.5063	0.11889	0.2096:0.6626:0.0:0.1278	.	223;376;324	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	S	334;324;223;324;324	ENSP00000273450:A334S;ENSP00000420293:A324S;ENSP00000395881:A223S;ENSP00000377083:A324S;ENSP00000377081:A324S	ENSP00000273450:A334S	A	-	1	0	ALDH1L1	127351953	0.998000	0.40836	0.002000	0.10522	0.096000	0.18686	4.022000	0.57203	0.932000	0.37266	0.491000	0.48974	GCG	.		0.557	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190	
UROC1	131669	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	126224620	126224620	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:126224620G>C	ENST00000290868.2	-	8	790	c.737C>G	c.(736-738)aCc>aGc	p.T246S	UROC1_ENST00000383579.3_Missense_Mutation_p.T246S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	246					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)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GAGCCCAGAGGTGACAAAGAC	0.627																																					p.T246S		.											.	UROC1-91	0			c.C737G						.						78.0	65.0	69.0					3																	126224620		2203	4300	6503	SO:0001583	missense	131669	exon8			CCAGAGGTGACAA	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.737C>G	3.37:g.126224620G>C	ENSP00000290868:p.Thr246Ser	159	0		226	50	NM_001165974	0	0	0	0	0	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	g	15.41	2.826808	0.50739	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.52295	0.67;0.67	4.66	4.66	0.58398	Urocanase domain (2);	0.000000	0.85682	U	0.000000	T	0.54759	0.1878	L	0.50993	1.605	0.58432	D	0.999993	P;B	0.44877	0.845;0.327	P;P	0.54140	0.743;0.459	T	0.47995	-0.9073	10	0.22109	T	0.4	-31.222	15.0337	0.71728	0.0:0.0:1.0:0.0	.	246;246	E9PE13;Q96N76	.;HUTU_HUMAN	S	246	ENSP00000290868:T246S;ENSP00000373073:T246S	ENSP00000290868:T246S	T	-	2	0	UROC1	127707310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.843000	0.92142	2.129000	0.65627	0.574000	0.79327	ACC	.		0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639	
PODXL2	50512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	127387303	127387303	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:127387303G>T	ENST00000342480.6	+	5	1265	c.1226G>T	c.(1225-1227)cGg>cTg	p.R409L		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	409					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CGGCAGCACCGGGGGCCACAG	0.657																																					p.R409L		.											.	PODXL2-91	0			c.G1226T						.						12.0	13.0	12.0					3																	127387303		2198	4296	6494	SO:0001583	missense	50512	exon5			AGCACCGGGGGCC	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1226G>T	3.37:g.127387303G>T	ENSP00000345359:p.Arg409Leu	196	1		270	143	NM_015720	0	0	0	0	0	Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153437	0.57259	.	.	ENSG00000114631	ENST00000342480	T	0.23348	1.91	4.89	4.89	0.63831	.	0.149020	0.44902	D	0.000409	T	0.24392	0.0591	L	0.54323	1.7	0.34592	D	0.71563	P	0.40970	0.734	B	0.36666	0.23	T	0.44682	-0.9312	10	0.62326	D	0.03	-13.8918	11.5536	0.50735	0.0824:0.0:0.9176:0.0	.	409	Q9NZ53	PDXL2_HUMAN	L	409	ENSP00000345359:R409L	ENSP00000345359:R409L	R	+	2	0	PODXL2	128869993	0.993000	0.37304	0.996000	0.52242	0.955000	0.61496	2.079000	0.41577	2.248000	0.74166	0.467000	0.42956	CGG	.		0.657	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720	
IFT122	55764	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	129239080	129239080	+	Missense_Mutation	SNP	G	G	T	rs201755623		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:129239080G>T	ENST00000348417.2	+	30	3775	c.3698G>T	c.(3697-3699)cGc>cTc	p.R1233L	IFT122_ENST00000507564.1_Missense_Mutation_p.R1226L|IFT122_ENST00000440957.2_Missense_Mutation_p.R1024L|IFT122_ENST00000504021.1_Missense_Mutation_p.R1110L|IFT122_ENST00000347300.2_Missense_Mutation_p.R1174L|IFT122_ENST00000296266.3_Missense_Mutation_p.R1284L|IFT122_ENST00000431818.2_Missense_Mutation_p.R1083L|IFT122_ENST00000349441.2_Missense_Mutation_p.R1123L	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1233					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.R1284H(2)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCCTACTGCCGCAGGTGCAAG	0.587																																					p.R1284L		.											.	IFT122-92	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G3851T						.						76.0	62.0	67.0					3																	129239080		2203	4300	6503	SO:0001583	missense	55764	exon31			ACTGCCGCAGGTG	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3698G>T	3.37:g.129239080G>T	ENSP00000324005:p.Arg1233Leu	65	1		106	64	NM_052985	0	0	0	0	0	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878122	0.91664	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.71103	0.13;-0.54;-0.38;-0.33;0.3;0.28;0.11;-0.29	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	M	0.84585	2.705	0.80722	D	1	P;D;P;D;D;D;D;D;P;P	0.89917	0.841;0.993;0.719;1.0;0.988;0.996;0.998;0.993;0.753;0.904	B;P;B;D;D;D;D;D;B;B	0.76575	0.358;0.88;0.103;0.988;0.944;0.973;0.944;0.975;0.195;0.358	D	0.86854	0.2025	10	0.87932	D	0	-23.6646	14.2837	0.66232	0.0708:0.0:0.9292:0.0	.	1024;559;1226;621;1110;1075;1123;1174;1233;1284	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	L	1174;1284;1226;1083;1110;1123;1233;1075;1024	ENSP00000323973:R1174L;ENSP00000296266:R1284L;ENSP00000425536:R1226L;ENSP00000410946:R1083L;ENSP00000422179:R1110L;ENSP00000324165:R1123L;ENSP00000324005:R1233L;ENSP00000401569:R1024L	ENSP00000296266:R1284L	R	+	2	0	IFT122	130721770	1.000000	0.71417	0.969000	0.41365	0.903000	0.53119	7.955000	0.87856	2.757000	0.94681	0.655000	0.94253	CGC	G|0.999;A|0.001		0.587	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	
TMCC1	23023	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	129373858	129373858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:129373858C>A	ENST00000393238.3	-	5	1940	c.1600G>T	c.(1600-1602)Gaa>Taa	p.E534*	TMCC1_ENST00000426664.2_Nonsense_Mutation_p.E420*|TMCC1_ENST00000432054.2_Nonsense_Mutation_p.E210*|TMCC1_ENST00000329333.5_Nonsense_Mutation_p.E355*	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	534						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						ATTTTTTCTTCCATGCTTGCC	0.418																																					p.E534X		.											.	TMCC1-91	0			c.G1600T						.						149.0	147.0	147.0					3																	129373858		2203	4300	6503	SO:0001587	stop_gained	23023	exon5			TTTCTTCCATGCT	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1600G>T	3.37:g.129373858C>A	ENSP00000376930:p.Glu534*	82	0		105	21	NM_001017395	0	0	0	0	0	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Nonsense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	37	6.138031	0.97315	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333;ENST00000510323	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.8918	20.394	0.98981	0.0:1.0:0.0:0.0	.	.	.	.	X	210;534;420;355;2	.	ENSP00000327349:E355X	E	-	1	0	TMCC1	130856548	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.813000	0.86123	2.830000	0.97506	0.585000	0.79938	GAA	.		0.418	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008	
MRPS22	56945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	138724701	138724701	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:138724701A>T	ENST00000495075.1	+	0	54				PRR23A_ENST00000383163.2_Missense_Mutation_p.V137D			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22							mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TTCCTGCTCAACGACGACGTC	0.632																																					p.V137D		.											.	.	0			c.T410A						.						51.0	48.0	49.0					3																	138724701		692	1591	2283			729627	exon1			TGCTCAACGACGA	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.-379A>T	3.37:g.138724701A>T		195	0		303	153	NM_001134659	0	0	0	0	0	Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.395784	0.42512	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.92	1.72	0.24424	.	2.364290	0.02624	N	0.103531	T	0.58119	0.2100	L	0.60455	1.87	0.09310	N	1	D	0.65815	0.995	D	0.63192	0.912	T	0.24512	-1.0158	9	0.66056	D	0.02	.	6.1327	0.20215	0.7368:0.2632:0.0:0.0	.	137	A6NEV1	PR23A_HUMAN	D	137	.	ENSP00000372649:V137D	V	-	2	0	PRR23A	140207391	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.068000	0.14531	0.515000	0.28320	0.402000	0.26972	GTT	.		0.632	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1	NM_020191	
PRR23C	389152	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	138762923	138762923	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:138762923G>C	ENST00000413199.1	-	1	811	c.540C>G	c.(538-540)ccC>ccG	p.P180P	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.P180P	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	180										breast(2)|lung(7)|skin(2)	11						TTCTAGCGGAGGGGTAGAGCC	0.667																																					p.P180P		.											.	PRR23C-23	0			c.C540G						.						22.0	28.0	26.0					3																	138762923		692	1591	2283	SO:0001819	synonymous_variant	389152	exon1			AGCGGAGGGGTAG		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.540C>G	3.37:g.138762923G>C		144	1		198	115	NM_001134657	0	0	0	0	0		Silent	SNP	ENST00000413199.1	37	CCDS46924.1																																																																																			.		0.667	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657	
CLSTN2	64084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	140167391	140167391	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:140167391G>T	ENST00000458420.3	+	6	1008	c.818G>T	c.(817-819)gGc>gTc	p.G273V	RP11-68L1.2_ENST00000509191.1_RNA|RP11-68L1.2_ENST00000502712.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	273	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TACCAGCCTGGCTCCGGGAGC	0.502										HNSCC(16;0.037)																											p.G273V	GBM(45;858 913 3709 36904 37282)	.											.	CLSTN2-157	0			c.G818T						.						108.0	102.0	104.0					3																	140167391		2203	4300	6503	SO:0001583	missense	64084	exon6			AGCCTGGCTCCGG	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.818G>T	3.37:g.140167391G>T	ENSP00000402460:p.Gly273Val	221	0		196	37	NM_022131	0	0	0	0	0	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625216	0.87560	.	.	ENSG00000158258	ENST00000458420	T	0.46451	0.87	5.2	5.2	0.72013	Cadherin (1);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77059	-0.2728	10	0.87932	D	0	-15.5618	16.2424	0.82423	0.0:0.0:1.0:0.0	.	273	Q9H4D0	CSTN2_HUMAN	V	273	ENSP00000402460:G273V	ENSP00000402460:G273V	G	+	2	0	CLSTN2	141650081	1.000000	0.71417	0.484000	0.27391	0.926000	0.56050	9.813000	0.99286	2.425000	0.82216	0.561000	0.74099	GGC	.		0.502	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
CLSTN2	64084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	140265408	140265408	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:140265408C>A	ENST00000458420.3	+	10	1749	c.1559C>A	c.(1558-1560)gCc>gAc	p.A520D		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	520					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGAAGCCTGGCCAGTCTCACC	0.502										HNSCC(16;0.037)																											p.A520D	GBM(45;858 913 3709 36904 37282)	.											.	CLSTN2-157	0			c.C1559A						.						63.0	61.0	61.0					3																	140265408		2203	4300	6503	SO:0001583	missense	64084	exon10			GCCTGGCCAGTCT	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1559C>A	3.37:g.140265408C>A	ENSP00000402460:p.Ala520Asp	240	1		300	172	NM_022131	0	0	0	0	0	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583994	0.86748	.	.	ENSG00000158258	ENST00000458420	T	0.62364	0.03	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.052400	0.85682	D	0.000000	T	0.76442	0.3988	M	0.71206	2.165	0.51233	D	0.999919	D	0.64830	0.994	D	0.63793	0.918	T	0.76828	-0.2815	9	.	.	.	-32.3936	16.3887	0.83524	0.0:1.0:0.0:0.0	.	520	Q9H4D0	CSTN2_HUMAN	D	520	ENSP00000402460:A520D	.	A	+	2	0	CLSTN2	141748098	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.487000	0.81328	2.455000	0.83008	0.455000	0.32223	GCC	.		0.502	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
SPSB4	92369	hgsc.bcm.edu	37	3	140785132	140785132	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:140785132G>T	ENST00000310546.2	+	2	930	c.186G>T	c.(184-186)tcG>tcT	p.S62S		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	62	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGGACCGCTCGCTCAACGTCT	0.736																																					p.S62S		.											.	SPSB4-226	0			c.G186T						.																																			SO:0001819	synonymous_variant	92369	exon2			CCGCTCGCTCAAC		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.186G>T	3.37:g.140785132G>T		4	0		129	26	NM_080862	0	0	0	0	0		Silent	SNP	ENST00000310546.2	37	CCDS3115.1																																																																																			.		0.736	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862	
GK5	256356	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	141904794	141904794	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:141904794C>A	ENST00000392993.2	-	9	944	c.793G>T	c.(793-795)Gtg>Ttg	p.V265L	GK5_ENST00000544571.1_Missense_Mutation_p.V265L	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	265					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						GGTATAGGCACACCAAATATC	0.308																																					p.V265L		.											.	GK5-90	0			c.G793T						.						87.0	92.0	90.0					3																	141904794		2203	4298	6501	SO:0001583	missense	256356	exon9			TAGGCACACCAAA	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.793G>T	3.37:g.141904794C>A	ENSP00000418001:p.Val265Leu	102	0		127	12	NM_001039547	0	0	0	0	0	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	ENST00000392993.2	37	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482441	0.63962	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	T;T	0.58358	0.84;0.34	4.52	4.52	0.55395	Carbohydrate kinase, FGGY, N-terminal (1);	0.190362	0.44688	D	0.000421	T	0.43722	0.1260	L	0.38692	1.165	0.43994	D	0.996694	B	0.28258	0.205	B	0.32022	0.139	T	0.29336	-1.0015	10	0.11182	T	0.66	-17.2966	16.4049	0.83656	0.0:1.0:0.0:0.0	.	265	Q6ZS86	GLPK5_HUMAN	L	265	ENSP00000418001:V265L;ENSP00000440860:V265L	ENSP00000418001:V265L	V	-	1	0	GK5	143387484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.007000	0.49536	2.208000	0.71279	0.563000	0.77884	GTG	.		0.308	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547	
ATR	545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	142232433	142232433	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:142232433C>G	ENST00000350721.4	-	26	4672	c.4551G>C	c.(4549-4551)atG>atC	p.M1517I	ATR_ENST00000383101.3_Missense_Mutation_p.M1453I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1517					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CATGCTTCATCATAATGCTAC	0.363								Other conserved DNA damage response genes																													p.M1517I		.											.	ATR-1139	0			c.G4551C						.						117.0	105.0	109.0					3																	142232433		2203	4300	6503	SO:0001583	missense	545	exon26			CTTCATCATAATG	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4551G>C	3.37:g.142232433C>G	ENSP00000343741:p.Met1517Ile	395	0		469	88	NM_001184	0	0	0	0	0	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873756	0.17322	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.14022	2.54;2.54	5.19	5.19	0.71726	.	0.045586	0.85682	D	0.000000	T	0.08492	0.0211	N	0.12746	0.255	0.52501	D	0.999958	B	0.12630	0.006	B	0.08055	0.003	T	0.14172	-1.0482	10	0.06891	T	0.86	-18.5795	18.6937	0.91593	0.0:1.0:0.0:0.0	.	1517	Q13535	ATR_HUMAN	I	1517;1453	ENSP00000343741:M1517I;ENSP00000372581:M1453I	ENSP00000343741:M1517I	M	-	3	0	ATR	143715123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.302000	0.59092	2.415000	0.81967	0.491000	0.48974	ATG	.		0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
TRPC1	7220	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	142523389	142523389	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:142523389A>G	ENST00000476941.1	+	12	2557	c.2071A>G	c.(2071-2073)Atc>Gtc	p.I691V	TRPC1_ENST00000273482.6_Missense_Mutation_p.I657V	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	691					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACCAAAGACTATCTGCTATAT	0.383																																					p.I691V		.											.	TRPC1-92	0			c.A2071G						.						102.0	97.0	99.0					3																	142523389		2203	4300	6503	SO:0001583	missense	7220	exon12			AAGACTATCTGCT	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2071A>G	3.37:g.142523389A>G	ENSP00000419313:p.Ile691Val	247	0		263	44	NM_001251845	0	0	0	0	0	Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.505981	0.26949	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.84370	-1.84;-1.84	4.83	3.67	0.42095	.	0.051677	0.85682	D	0.000000	T	0.68696	0.3029	N	0.10945	0.07	0.53005	D	0.999961	B;B	0.09022	0.0;0.002	B;B	0.15052	0.001;0.012	T	0.57808	-0.7747	10	0.13470	T	0.59	-23.9068	10.4928	0.44760	0.9226:0.0:0.0774:0.0	.	691;657	P48995;P48995-2	TRPC1_HUMAN;.	V	691;657	ENSP00000419313:I691V;ENSP00000273482:I657V	ENSP00000273482:I657V	I	+	1	0	TRPC1	144006079	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.640000	0.61368	0.796000	0.33947	0.528000	0.53228	ATC	.		0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304	
CPA3	1359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	148586735	148586735	+	Missense_Mutation	SNP	G	G	T	rs138685459		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:148586735G>T	ENST00000296046.3	+	3	230	c.178G>T	c.(178-180)Gta>Tta	p.V60L	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	60					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CACCCACCACGTAGCTGCTAA	0.423																																					p.V60L		.											.	CPA3-154	0			c.G178T						.						138.0	117.0	124.0					3																	148586735		2203	4300	6503	SO:0001583	missense	1359	exon3			CACCACGTAGCTG		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.178G>T	3.37:g.148586735G>T	ENSP00000296046:p.Val60Leu	69	0		105	19	NM_001870	0	0	0	0	0	Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	7.765	0.706266	0.15239	.	.	ENSG00000163751	ENST00000296046	T	0.34472	1.36	5.45	-1.06	0.10002	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.308595	0.30060	N	0.010507	T	0.31702	0.0805	L	0.52011	1.625	0.09310	N	0.999998	B	0.24823	0.112	B	0.30782	0.12	T	0.37549	-0.9701	10	0.72032	D	0.01	.	10.9061	0.47081	0.7085:0.0:0.2915:0.0	.	60	P15088	CBPA3_HUMAN	L	60	ENSP00000296046:V60L	ENSP00000296046:V60L	V	+	1	0	CPA3	150069425	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	-0.140000	0.10342	-0.283000	0.09115	-0.136000	0.14681	GTA	G|1.000;A|0.000		0.423	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870	
CP	1356	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	148923984	148923984	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:148923984G>A	ENST00000264613.6	-	6	1441	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	393	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTTCTTTAGTGAAGATGTCTA	0.393																																					p.F393F		.											.	CP-515	0			c.C1179T						.						113.0	115.0	114.0					3																	148923984		2203	4300	6503	SO:0001819	synonymous_variant	1356	exon6			TTTAGTGAAGATG	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1179C>T	3.37:g.148923984G>A		87	1		92	13	NM_000096	0	0	0	0	0	Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	CCDS3141.1																																																																																			.		0.393	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
P2RY12	64805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	151055969	151055969	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:151055969C>G	ENST00000302632.3	-	3	964	c.665G>C	c.(664-666)aGa>aCa	p.R222T	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	222					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	ACCCCTCGTTCTTACGTATGA	0.333																																					p.R222T		.											.	P2RY12-501	0			c.G665C						.						73.0	75.0	74.0					3																	151055969		2203	4300	6503	SO:0001583	missense	64805	exon3			CTCGTTCTTACGT	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.665G>C	3.37:g.151055969C>G	ENSP00000307259:p.Arg222Thr	124	0		121	19	NM_022788	0	0	0	0	0	D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391378	0.62066	.	.	ENSG00000169313	ENST00000302632;ENST00000455408	T	0.20332	2.08	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.146353	0.64402	D	0.000016	T	0.32164	0.0820	M	0.64170	1.965	0.48901	D	0.999729	P	0.45768	0.866	P	0.51453	0.67	T	0.01172	-1.1429	10	0.27082	T	0.32	-22.3255	12.5757	0.56362	0.0:0.9237:0.0:0.0762	.	222	Q9H244	P2Y12_HUMAN	T	222;125	ENSP00000307259:R222T	ENSP00000307259:R222T	R	-	2	0	P2RY12	152538659	1.000000	0.71417	0.496000	0.27539	0.739000	0.42172	5.742000	0.68646	2.613000	0.88420	0.655000	0.94253	AGA	.		0.333	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1		
IGSF10	285313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	151166386	151166386	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:151166386T>A	ENST00000282466.3	-	4	1382	c.1383A>T	c.(1381-1383)ccA>ccT	p.P461P		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	461	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTCTGCTCTTGGTAAAGTGA	0.438																																					p.P461P		.											.	IGSF10-102	0			c.A1383T						.						199.0	180.0	186.0					3																	151166386		2203	4300	6503	SO:0001819	synonymous_variant	285313	exon4			TGCTCTTGGTAAA	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1383A>T	3.37:g.151166386T>A		59	0		85	49	NM_178822	0	0	0	0	0	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																			.		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
RAP2B	5912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	152880651	152880651	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:152880651G>T	ENST00000323534.2	+	1	623	c.169G>T	c.(169-171)Gat>Tat	p.D57Y	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	57					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGAGATCCTGGATACGGCGGG	0.592																																					p.D57Y		.											.	RAP2B-847	0			c.G169T						.						98.0	100.0	99.0					3																	152880651		2203	4300	6503	SO:0001583	missense	5912	exon1			ATCCTGGATACGG		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.169G>T	3.37:g.152880651G>T	ENSP00000319096:p.Asp57Tyr	282	0		341	174	NM_002886	0	0	0	0	0	P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693482	0.68386	.	.	ENSG00000181467	ENST00000323534	D	0.93859	-3.3	4.71	3.84	0.44239	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.97980	0.9335	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97675	1.0169	10	0.87932	D	0	.	10.635	0.45560	0.0938:0.0:0.9062:0.0	.	57	P61225	RAP2B_HUMAN	Y	57	ENSP00000319096:D57Y	ENSP00000319096:D57Y	D	+	1	0	RAP2B	154363341	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.443000	0.97568	1.197000	0.43143	0.563000	0.77884	GAT	.		0.592	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886	
GPR149	344758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	154146424	154146424	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:154146424C>A	ENST00000389740.2	-	1	1080	c.981G>T	c.(979-981)atG>atT	p.M327I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	327					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCACTTTTACCATCATGGGCA	0.552																																					p.M327I		.											.	GPR149-96	0			c.G981T						.						126.0	124.0	125.0					3																	154146424		1995	4159	6154	SO:0001630	splice_region_variant	344758	exon1			TTTTACCATCATG	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.981+1G>T	3.37:g.154146424C>A		221	1		341	191	NM_001038705	0	0	0	0	0		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943152	0.92526	.	.	ENSG00000174948	ENST00000389740	T	0.35973	1.28	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.077600	0.85682	D	0.000000	T	0.58323	0.2114	M	0.68593	2.085	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.59091	-0.7519	9	.	.	.	-13.6879	18.039	0.89313	0.0:1.0:0.0:0.0	.	327	Q86SP6	GP149_HUMAN	I	327	ENSP00000374390:M327I	.	M	-	3	0	GPR149	155629118	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.060000	0.76692	2.268000	0.75426	0.655000	0.94253	ATG	.		0.552	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	Missense_Mutation
MME	4311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	154884770	154884770	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:154884770G>T	ENST00000460393.1	+	18	1860	c.1740G>T	c.(1738-1740)atG>atT	p.M580I	MME_ENST00000360490.2_Missense_Mutation_p.M580I|MME_ENST00000492661.1_Missense_Mutation_p.M580I|MME_ENST00000462745.1_Missense_Mutation_p.M580I|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Missense_Mutation_p.M580I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	580					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GCATCGGCATGGTCATAGGAC	0.468																																					p.M580I		.											.	MME-516	0			c.G1740T						.						152.0	139.0	143.0					3																	154884770		2203	4300	6503	SO:0001583	missense	4311	exon18			CGGCATGGTCATA		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1740G>T	3.37:g.154884770G>T	ENSP00000418525:p.Met580Ile	144	0		116	65	NM_007287	0	0	0	0	0	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181307	0.94846	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	5.9	5.9	0.94986	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.041005	0.85682	D	0.000000	D	0.89291	0.6673	M	0.69823	2.125	0.80722	D	1	D	0.61697	0.99	D	0.65443	0.935	D	0.88959	0.3392	10	0.62326	D	0.03	-29.8646	20.2789	0.98501	0.0:0.0:1.0:0.0	.	580	P08473	NEP_HUMAN	I	580	ENSP00000420389:M580I;ENSP00000418525:M580I;ENSP00000419653:M580I;ENSP00000417079:M580I;ENSP00000353679:M580I	ENSP00000353679:M580I	M	+	3	0	MME	156367464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.788000	0.95919	0.650000	0.86243	ATG	.		0.468	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
TIPARP	25976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	156413771	156413771	+	Nonsense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:156413771A>T	ENST00000461166.1	+	4	1792	c.1204A>T	c.(1204-1206)Aga>Tga	p.R402*	TIPARP_ENST00000295924.7_Nonsense_Mutation_p.R402*|TIPARP_ENST00000542783.1_Nonsense_Mutation_p.R402*|TIPARP_ENST00000486483.1_Nonsense_Mutation_p.R402*	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	402	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATAAAAAGGAGACCCCTCTT	0.393																																					p.R402X	Ovarian(171;276 1987 3319 6837 11197)	.											.	TIPARP-523	0			c.A1204T						.						111.0	115.0	113.0					3																	156413771		2203	4300	6503	SO:0001587	stop_gained	25976	exon4			AAAAGGAGACCCC	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1204A>T	3.37:g.156413771A>T	ENSP00000420612:p.Arg402*	78	0		79	22	NM_015508	0	0	0	0	0	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Nonsense_Mutation	SNP	ENST00000461166.1	37	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	44|44	10.643449|10.643449	0.99443|0.99443	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.37544|.	0.1007|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35574|.	-0.9783|.	3|.	.|0.02654	.|T	.|1	.|.	15.2206|15.2206	0.73308|0.73308	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	104|402	.|.	.|ENSP00000295924:R402X	E|R	+|+	2|1	0|2	TIPARP|TIPARP	157896465|157896465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.765000|2.765000	0.47621|0.47621	2.085000|2.085000	0.62840|0.62840	0.377000|0.377000	0.23210|0.23210	GAG|AGA	.		0.393	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508	
RARRES1	5918	hgsc.bcm.edu	37	3	158449965	158449965	+	Silent	SNP	T	T	C	rs6441223	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:158449965T>C	ENST00000237696.5	-	1	520	c.240A>G	c.(238-240)ctA>ctG	p.L80L	RP11-379F4.4_ENST00000468242.1_RNA|RARRES1_ENST00000479756.1_Silent_p.L80L|RP11-379F4.4_ENST00000465477.1_RNA|RARRES1_ENST00000498640.1_5'UTR|RP11-379F4.4_ENST00000495318.1_RNA	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	80					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	CCAGCACTCGTAGCGCGCTGG	0.751													C|||	2145	0.428315	0.6165	0.3271	5008	,	,		7828	0.1736		0.493	False		,,,				2504	0.4417				p.L80L		.											.	RARRES1-514	0			c.A240G						.						1.0	1.0	1.0					3																	158449965		703	1608	2311	SO:0001819	synonymous_variant	5918	exon1			CACTCGTAGCGCG	U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"""latexin-like"""	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.240A>G	3.37:g.158449965T>C		0	0		4	4	NM_206963	0	0	0	0	0	Q8N1D7	Silent	SNP	ENST00000237696.5	37	CCDS3184.1																																																																																			T|0.584;C|0.416		0.751	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1		
OTOL1	131149	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	161214847	161214847	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:161214847C>T	ENST00000327928.4	+	1	252	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	84						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CTGCCACTCTCTCTCCCTTTG	0.463																																					p.L84L		.											.	.	0			c.C252T						.						162.0	159.0	160.0					3																	161214847		1870	4105	5975	SO:0001819	synonymous_variant	131149	exon1			CACTCTCTCTCCC		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.252C>T	3.37:g.161214847C>T		145	0		179	17	NM_001080440	0	0	0	0	0		Silent	SNP	ENST00000327928.4	37	CCDS46948.1																																																																																			.		0.463	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440	
SI	6476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	164786984	164786984	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:164786984C>A	ENST00000264382.3	-	4	318		c.e4-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CACAAATTCCCTGATAAAATA	0.343										HNSCC(35;0.089)																											.		.											.	SI-104	0			c.256-1G>T						.						31.0	34.0	33.0					3																	164786984		2203	4299	6502	SO:0001630	splice_region_variant	6476	exon5			AATTCCCTGATAA	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.256-1G>T	3.37:g.164786984C>A		112	0		112	17	NM_001041	0	0	0	0	0	A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540097	0.45176	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166269678	1.000000	0.71417	0.558000	0.28319	0.222000	0.24845	6.288000	0.72679	2.802000	0.96397	0.655000	0.94253	.	.		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Intron
BCHE	590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	165547305	165547305	+	Splice_Site	SNP	C	C	A	rs532499978	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:165547305C>A	ENST00000264381.3	-	2	1683	c.1517G>T	c.(1516-1518)gGg>gTg	p.G506V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	506					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CAGCACTTACCCATATTTTGC	0.388													C|||	3	0.000599042	0.0	0.0	5008	,	,		16299	0.0		0.0	False		,,,				2504	0.0031				p.G506V		.											.	BCHE-94	0			c.G1517T						.						78.0	83.0	81.0					3																	165547305		2203	4300	6503	SO:0001630	splice_region_variant	590	exon2			ACTTACCCATATT	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1517+1G>T	3.37:g.165547305C>A		93	0		82	13	NM_000055	0	0	0	0	0	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384108	0.61845	.	.	ENSG00000114200	ENST00000264381	T	0.75589	-0.95	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.92870	0.7732	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95849	0.8873	9	.	.	.	.	18.4281	0.90615	0.0:1.0:0.0:0.0	.	506	P06276	CHLE_HUMAN	V	506	ENSP00000264381:G506V	.	G	-	2	0	BCHE	167029999	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.245000	0.78237	2.605000	0.88082	0.591000	0.81541	GGG	.		0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		Missense_Mutation
SERPINI2	5276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	167184843	167184843	+	Splice_Site	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:167184843C>G	ENST00000476257.1	-	4	776	c.478G>C	c.(478-480)Gga>Cga	p.G160R	SERPINI2_ENST00000471111.1_Splice_Site_p.G160R|SERPINI2_ENST00000461846.1_Splice_Site_p.G160R|SERPINI2_ENST00000264677.4_Splice_Site_p.G160R|SERPINI2_ENST00000465031.1_5'Flank			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	160					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAAACTTTACCATCTGTTTTT	0.323																																					p.G170R		.											.	SERPINI2-228	0			c.G508C						.						64.0	67.0	66.0					3																	167184843		2202	4300	6502	SO:0001630	splice_region_variant	5276	exon4			CTTTACCATCTGT	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.478+1G>C	3.37:g.167184843C>G		28	0		36	4	NM_001012303	0	0	0	0	0		Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148852	0.78001	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	T;T;T;T;T;D	0.86694	-1.36;-1.36;-1.36;-1.36;-1.36;-2.16	5.7	5.7	0.88788	Serpin domain (3);	0.165226	0.53938	D	0.000054	D	0.94185	0.8134	M	0.82433	2.59	0.51482	D	0.999925	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93699	0.7014	9	.	.	.	.	19.8533	0.96747	0.0:1.0:0.0:0.0	.	160;160	B4DDY9;O75830	.;SPI2_HUMAN	R	160;160;160;160;160;145	ENSP00000420621:G160R;ENSP00000417692:G160R;ENSP00000264677:G160R;ENSP00000419407:G160R;ENSP00000417752:G160R;ENSP00000419255:G145R	.	G	-	1	0	SERPINI2	168667537	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.181000	0.58303	2.692000	0.91855	0.655000	0.94253	GGA	.		0.323	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217	Missense_Mutation
WDR49	151790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	167218046	167218046	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:167218046G>A	ENST00000308378.3	-	14	2175	c.1870C>T	c.(1870-1872)Cct>Tct	p.P624S	WDR49_ENST00000453925.2_Missense_Mutation_p.P589S|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.P449S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	624										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTCACTTCAGGCAGCTCTTCC	0.438																																					p.P624S		.											.	WDR49-155	0			c.C1870T						.						136.0	146.0	143.0					3																	167218046		2203	4300	6503	SO:0001583	missense	151790	exon14			CTTCAGGCAGCTC	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1870C>T	3.37:g.167218046G>A	ENSP00000311343:p.Pro624Ser	59	0		50	29	NM_178824	0	0	0	0	0	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	0.370	-0.934338	0.02340	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925	T;T;T	0.51325	0.71;2.0;1.02	5.29	3.41	0.39046	.	0.693905	0.12865	N	0.432747	T	0.36082	0.0954	L	0.57536	1.79	0.09310	N	1	B;B	0.34103	0.437;0.329	B;B	0.32864	0.154;0.095	T	0.31392	-0.9945	10	0.06757	T	0.87	.	6.9456	0.24516	0.0:0.1735:0.5469:0.2796	.	589;624	E7EQK3;Q8IV35	.;WDR49_HUMAN	S	624;449;589	ENSP00000311343:P624S;ENSP00000420508:P449S;ENSP00000410863:P589S	ENSP00000311343:P624S	P	-	1	0	WDR49	168700740	0.167000	0.22975	0.545000	0.28153	0.001000	0.01503	1.810000	0.38932	2.462000	0.83206	0.591000	0.81541	CCT	.		0.438	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	
SAMD7	344658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	169644583	169644583	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:169644583G>T	ENST00000428432.2	+	6	922	c.533G>T	c.(532-534)gGg>gTg	p.G178V	SAMD7_ENST00000335556.3_Missense_Mutation_p.G178V	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	178										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAGAGCTGGGGGCAGAGATGT	0.498																																					p.G178V		.											.	SAMD7-91	0			c.G533T						.						62.0	66.0	65.0					3																	169644583		2203	4300	6503	SO:0001583	missense	344658	exon6			GCTGGGGGCAGAG	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.533G>T	3.37:g.169644583G>T	ENSP00000391299:p.Gly178Val	143	0		215	40	NM_182610	0	0	0	0	0		Missense_Mutation	SNP	ENST00000428432.2	37	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651790	0.47362	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.43688	0.94;0.94	6.16	3.32	0.38043	.	0.252301	0.45126	D	0.000393	T	0.31327	0.0793	L	0.57536	1.79	0.20196	N	0.999928	P	0.50272	0.933	B	0.39706	0.307	T	0.21793	-1.0235	10	0.30854	T	0.27	-4.7219	3.7173	0.08442	0.2689:0.0:0.4494:0.2816	.	178	Q7Z3H4	SAMD7_HUMAN	V	178	ENSP00000391299:G178V;ENSP00000334668:G178V	ENSP00000334668:G178V	G	+	2	0	SAMD7	171127277	1.000000	0.71417	0.887000	0.34795	0.694000	0.40290	3.133000	0.50531	0.865000	0.35603	0.650000	0.86243	GGG	.		0.498	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610	
TNIK	23043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	170928929	170928929	+	Silent	SNP	T	T	A	rs373014252	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:170928929T>A	ENST00000436636.2	-	4	626	c.282A>T	c.(280-282)ccA>ccT	p.P94P	TNIK_ENST00000357327.5_Silent_p.P94P|TNIK_ENST00000369326.5_Silent_p.P94P|TNIK_ENST00000475336.1_Silent_p.P94P|TNIK_ENST00000341852.6_Silent_p.P94P|TNIK_ENST00000470834.1_Silent_p.P94P|TNIK_ENST00000284483.8_Silent_p.P94P|TNIK_ENST00000488470.1_Silent_p.P94P|TNIK_ENST00000460047.1_Silent_p.P94P|TNIK_ENST00000538048.1_Silent_p.P94P	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	94	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCATGCCTGGTGGGTTCTTTT	0.353																																					p.P94P		.											.	TNIK-550	0			c.A282T						.						118.0	114.0	115.0					3																	170928929		1827	4096	5923	SO:0001819	synonymous_variant	23043	exon4			GCCTGGTGGGTTC	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.282A>T	3.37:g.170928929T>A		79	0		60	26	NM_001161562	0	0	0	0	0	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	CCDS46956.1																																																																																			.		0.353	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
KCNMB2	10242	hgsc.bcm.edu;bcgsc.ca	37	3	178543454	178543454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:178543454delC	ENST00000432997.1	+	3	487	c.135delC	c.(133-135)gacfs	p.D45fs	KCNMB2_ENST00000452583.1_Frame_Shift_Del_p.D45fs|KCNMB2_ENST00000420517.2_Frame_Shift_Del_p.D45fs|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000358316.3_Frame_Shift_Del_p.D45fs|RP11-385J1.2_ENST00000432385.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	56					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	CAGGAGAGGACCGAGCTATTC	0.458																																					p.D45fs		.											.	KCNMB2-91	0			c.135delC						.						210.0	197.0	201.0					3																	178543454		2203	4300	6503	SO:0001589	frameshift_variant	10242	exon4			AGAGGACCGAGCT	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.135delC	3.37:g.178543454delC	ENSP00000407592:p.Asp45fs	193	1		196	93	NM_005832	0	0	0	0	0	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Frame_Shift_Del	DEL	ENST00000432997.1	37	CCDS3223.1																																																																																			.		0.458	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361	
MFN1	55669	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	179076752	179076752	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:179076752C>T	ENST00000471841.1	+	4	499	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	MFN1_ENST00000263969.5_Missense_Mutation_p.L125F|MFN1_ENST00000280653.7_Missense_Mutation_p.L125F	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	125	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TAAAGCCTATCTTATGACAGA	0.358																																					p.L125F		.											.	MFN1-155	0			c.C373T						.						138.0	129.0	132.0					3																	179076752		2203	4300	6503	SO:0001583	missense	55669	exon4			GCCTATCTTATGA	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.373C>T	3.37:g.179076752C>T	ENSP00000420617:p.Leu125Phe	72	1		60	33	NM_033540	0	0	0	0	0	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497583	0.64186	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77	5.86	4.99	0.66335	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98251	1.0493	10	0.52906	T	0.07	-17.0886	15.2409	0.73468	0.0:0.9326:0.0:0.0674	.	153;125	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	F	125	ENSP00000420617:L125F;ENSP00000280653:L125F;ENSP00000419134:L125F;ENSP00000263969:L125F	ENSP00000263969:L125F	L	+	1	0	MFN1	180559446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.578000	0.60929	1.617000	0.50277	0.650000	0.86243	CTT	.		0.358	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927	
NDUFB5	4711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	179332777	179332777	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:179332777G>T	ENST00000259037.3	+	2	257	c.143G>T	c.(142-144)gGa>gTa	p.G48V	snoU13_ENST00000459278.1_RNA|NDUFB5_ENST00000473500.1_Intron|NDUFB5_ENST00000472629.1_Intron|NDUFB5_ENST00000493866.1_Intron	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	48					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CGACACAGTGGAGACCATGGG	0.323																																					p.G48V		.											.	NDUFB5-91	0			c.G143T						.						99.0	98.0	98.0					3																	179332777		2203	4300	6503	SO:0001583	missense	4711	exon2			ACAGTGGAGACCA	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.143G>T	3.37:g.179332777G>T	ENSP00000259037:p.Gly48Val	48	0		46	11	NM_002492	0	0	0	0	0	Q561V6	Missense_Mutation	SNP	ENST00000259037.3	37	CCDS3234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.05|17.05	3.289178|3.289178	0.59976|0.59976	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000482604|ENST00000259037	.|T	.|0.53423	.|0.62	4.71|4.71	2.79|2.79	0.32731|0.32731	.|.	.|0.166857	.|0.52532	.|D	.|0.000074	.|T	.|0.69708	.|0.3141	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|D	.|0.66084	.|0.941	.|T	.|0.76465	.|-0.2949	.|10	.|0.72032	.|D	.|0.01	-15.2316|-15.2316	15.6402|15.6402	0.76993|0.76993	0.0:0.1674:0.8325:0.0|0.0:0.1674:0.8325:0.0	.|.	.|48	.|O43674	.|NDUB5_HUMAN	X|V	45|48	.|ENSP00000259037:G48V	.|ENSP00000259037:G48V	E|G	+|+	1|2	0|0	NDUFB5|NDUFB5	180815471|180815471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	2.500000|2.500000	0.45381|0.45381	0.594000|0.594000	0.29761|0.29761	0.551000|0.551000	0.68910|0.68910	GAG|GGA	.		0.323	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492	
CCDC39	339829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	180366051	180366051	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:180366051C>T	ENST00000442201.2	-	10	1383	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	CCDC39_ENST00000273654.4_Missense_Mutation_p.E506K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	422					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCTTCAATTTCTGATAAAACA	0.378																																					p.E422K		.											.	CCDC39-72	0			c.G1264A						.						142.0	130.0	134.0					3																	180366051		1833	4082	5915	SO:0001583	missense	339829	exon10			CAATTTCTGATAA	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1264G>A	3.37:g.180366051C>T	ENSP00000405708:p.Glu422Lys	79	0		68	13	NM_181426	0	0	0	0	0	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955070	0.92726	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.79940	-1.32;-1.32	5.37	5.37	0.77165	.	0.176223	0.48767	D	0.000164	D	0.90686	0.7078	M	0.87180	2.865	0.50039	D	0.999843	D	0.71674	0.998	D	0.64776	0.929	D	0.92025	0.5629	10	0.72032	D	0.01	-26.3931	18.8014	0.92018	0.0:1.0:0.0:0.0	.	422	Q9UFE4	CCD39_HUMAN	K	506;422	ENSP00000273654:E506K;ENSP00000405708:E422K	ENSP00000273654:E506K	E	-	1	0	CCDC39	181848745	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.114000	0.50383	2.536000	0.85505	0.558000	0.71614	GAA	.		0.378	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
CCDC39	339829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	180369189	180369189	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:180369189C>T	ENST00000442201.2	-	9	1286	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K	CCDC39_ENST00000273654.4_Splice_Site_p.K473K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	389					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAAACTTTACCTTCACATCTT	0.328																																					p.K389K		.											.	CCDC39-72	0			c.G1167A						.						86.0	72.0	76.0					3																	180369189		1787	4044	5831	SO:0001630	splice_region_variant	339829	exon9			CTTTACCTTCACA	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1167+1G>A	3.37:g.180369189C>T		32	0		40	17	NM_181426	0	0	0	0	0	B4E2H1	Silent	SNP	ENST00000442201.2	37	CCDS46964.1																																																																																			.		0.328	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	Silent
SOX2	6657	broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	181430384	181430384	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:181430384G>T	ENST00000325404.1	+	1	663	c.236G>T	c.(235-237)tGg>tTg	p.W79L	SOX2_ENST00000431565.2_Missense_Mutation_p.W79L	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	79					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GGCGCCGAGTGGAAACTTTTG	0.612			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																														p.W79L		.		Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	.	SOX2-650	0			c.G236T						.						40.0	44.0	42.0					3																	181430384		2203	4300	6503	SO:0001583	missense	6657	exon1			CCGAGTGGAAACT	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.236G>T	3.37:g.181430384G>T	ENSP00000323588:p.Trp79Leu	265	1		312	38	NM_003106	0	0	0	0	0	Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054771	0.36277	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.99454	-5.92;-5.92	4.89	4.01	0.46588	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.065953	0.64402	N	0.000003	D	0.99757	0.9902	H	0.99964	5.085	0.80722	D	1	P	0.36315	0.547	P	0.51016	0.656	D	0.96352	0.9259	10	0.87932	D	0	.	13.9292	0.63983	0.0:0.0:0.8467:0.1533	.	79	P48431	SOX2_HUMAN	L	79	ENSP00000439111:W79L;ENSP00000323588:W79L	ENSP00000323588:W79L	W	+	2	0	SOX2	182913078	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	7.860000	0.86993	1.156000	0.42514	0.561000	0.74099	TGG	.		0.612	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106	
MCF2L2	23101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	183013226	183013226	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:183013226G>T	ENST00000328913.3	-	13	1834	c.1537C>A	c.(1537-1539)Cag>Aag	p.Q513K	MCF2L2_ENST00000414362.2_Missense_Mutation_p.Q513K|MCF2L2_ENST00000473233.1_Missense_Mutation_p.Q513K|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000447025.2_Missense_Mutation_p.Q513K	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	513							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AATATTTCCTGGACATCATCC	0.478																																					p.Q513K		.											.	MCF2L2-293	0			c.C1537A						.						150.0	126.0	134.0					3																	183013226		2203	4300	6503	SO:0001583	missense	23101	exon13			TTTCCTGGACATC	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1537C>A	3.37:g.183013226G>T	ENSP00000328118:p.Gln513Lys	146	0		159	29	NM_015078	0	0	0	0	0	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586959	0.66105	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.05081	4.64;4.66;3.77;3.5	4.82	3.93	0.45458	.	0.073671	0.56097	D	0.000026	T	0.15998	0.0385	M	0.74647	2.275	0.80722	D	1	P;P	0.45044	0.849;0.78	P;B	0.49829	0.623;0.123	T	0.02115	-1.1211	10	0.37606	T	0.19	.	14.6918	0.69091	0.0:0.0:0.8542:0.1458	.	513;513	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	K	513;513;513;49;513	ENSP00000328118:Q513K;ENSP00000420070:Q513K;ENSP00000388190:Q513K;ENSP00000414131:Q513K	ENSP00000328118:Q513K	Q	-	1	0	MCF2L2	184495920	1.000000	0.71417	0.998000	0.56505	0.795000	0.44927	6.934000	0.75880	1.255000	0.44051	0.650000	0.86243	CAG	.		0.478	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
ABCC5	10057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	183679297	183679297	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:183679297A>T	ENST00000334444.6	-	16	2620		c.e16+1		ABCC5_ENST00000265586.6_Splice_Site	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATCAGATCTTACCTCAACTGG	0.478																																					.		.											.	ABCC5-137	0			c.2379+2T>A						.						62.0	66.0	65.0					3																	183679297		2125	4244	6369	SO:0001630	splice_region_variant	10057	exon17			GATCTTACCTCAA	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2379+1T>A	3.37:g.183679297A>T		110	0		107	53	NM_005688	0	0	0	0	0	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Splice_Site	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843469	0.32606	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0371	0.71757	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCC5	185161991	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	6.536000	0.73842	1.959000	0.56917	0.482000	0.46254	.	.		0.478	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	Intron
VWA5B2	90113	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	183952539	183952539	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:183952539G>T	ENST00000426955.2	+	6	1041	c.941G>T	c.(940-942)cGg>cTg	p.R314L	EIF2B5_ENST00000444495.1_Intron|VWA5B2_ENST00000273794.5_Missense_Mutation_p.R95L	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	325										breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						GATGGGGACCGGCAGGTACCG	0.632																																					p.R314L		.											.	.	0			c.G941T						.						13.0	20.0	18.0					3																	183952539		692	1591	2283	SO:0001583	missense	90113	exon6			GGGACCGGCAGGT		CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.941G>T	3.37:g.183952539G>T	ENSP00000398688:p.Arg314Leu	114	1		106	60	NM_138345	0	0	0	0	0	B9EGN7	Missense_Mutation	SNP	ENST00000426955.2	37	CCDS54686.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379733	0.61845	.	.	ENSG00000145198	ENST00000426955;ENST00000273794	T;T	0.23754	2.63;1.89	4.89	4.02	0.46733	.	0.177581	0.27591	N	0.018692	T	0.32526	0.0832	L	0.58101	1.795	0.44685	D	0.997679	P;B;B;D	0.58970	0.68;0.373;0.373;0.984	B;B;B;P	0.49012	0.207;0.141;0.141;0.598	T	0.13575	-1.0504	10	0.87932	D	0	-8.3559	10.6368	0.45569	0.0898:0.0:0.9101:0.0	.	95;314;325;325	E9PF42;B9EGN7;Q8N398;C9JW99	.;.;VW5B2_HUMAN;.	L	314;95	ENSP00000398688:R314L;ENSP00000273794:R95L	ENSP00000273794:R95L	R	+	2	0	VWA5B2	185435233	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.076000	0.30729	1.436000	0.47453	0.655000	0.94253	CGG	.		0.632	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346004.2	XM_291077	
CHRD	8646	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	184105719	184105719	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:184105719G>T	ENST00000204604.1	+	20	2698	c.2452G>T	c.(2452-2454)Ggg>Tgg	p.G818W	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Splice_Site_p.G778W|CHRD_ENST00000450923.1_Splice_Site_p.G818W|CHRD_ENST00000545352.1_Splice_Site_p.G360W	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	818	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCCTACAGGGGGGCACTGG	0.607																																					p.G818W		.											.	CHRD-93	0			c.G2452T						.						37.0	30.0	33.0					3																	184105719		2203	4299	6502	SO:0001630	splice_region_variant	8646	exon20			CTACAGGGGGGCA	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2452-1G>T	3.37:g.184105719G>T		181	1		231	30	NM_003741	0	0	0	0	0	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.57|19.57	3.851664|3.851664	0.71719|0.71719	.|.	.|.	ENSG00000090539|ENSG00000090539	ENST00000342610|ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	.|T;T;T;T	.|0.67171	.|-0.25;-0.25;-0.25;-0.25	4.4|4.4	4.4|4.4	0.53042|0.53042	.|von Willebrand factor, type C (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.74535|0.74535	0.3729|0.3729	L|L	0.44542|0.44542	1.39|1.39	0.37492|0.37492	D|D	0.916405|0.916405	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.996;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.992;0.949;0.998	T|T	0.76534|0.76534	-0.2924|-0.2924	6|9	.|.	.|.	.|.	-17.0109|-17.0109	14.0867|14.0867	0.64962|0.64962	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|360;778;818;818	.|B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.|.;.;.;CHRD_HUMAN	V|W	496|818;818;778;360	.|ENSP00000204604:G818W;ENSP00000408972:G818W;ENSP00000334036:G778W;ENSP00000442948:G360W	.|.	G|G	+|+	2|1	0|0	CHRD|CHRD	185588413|185588413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	5.727000|5.727000	0.68523|0.68523	2.178000|2.178000	0.69098|0.69098	0.557000|0.557000	0.71058|0.71058	GGG|GGG	.		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	Missense_Mutation
SENP2	59343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	185337191	185337191	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:185337191G>T	ENST00000296257.5	+	13	1587	c.1347G>T	c.(1345-1347)ggG>ggT	p.G449G	SENP2_ENST00000545472.1_Silent_p.G439G|SENP2_ENST00000427465.2_Silent_p.G273G	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	449	Protease.				cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TAAAGTCTGGGGGTTACCAAG	0.388																																					p.G449G		.											.	SENP2-658	0			c.G1347T						.						72.0	76.0	75.0					3																	185337191		2203	4300	6503	SO:0001819	synonymous_variant	59343	exon13			GTCTGGGGGTTAC	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1347G>T	3.37:g.185337191G>T		82	0		89	54	NM_021627	0	0	0	0	0	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Silent	SNP	ENST00000296257.5	37	CCDS33902.1																																																																																			.		0.388	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627	
FETUB	26998	hgsc.bcm.edu	37	3	186358823	186358823	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:186358823G>T	ENST00000265029.3	+	2	331	c.230G>T	c.(229-231)gGc>gTc	p.G77V	FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382136.3_Intron|FETUB_ENST00000488561.1_Intron|FETUB_ENST00000382134.3_Intron|FETUB_ENST00000450521.1_Missense_Mutation_p.G77V|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	77	Cystatin fetuin-B-type 1. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CCACAGGGTGGCCTGGGATCT	0.448																																					p.G77V		.											.	FETUB-92	0			c.G230T						.						85.0	77.0	80.0					3																	186358823		2203	4300	6503	SO:0001583	missense	26998	exon2			AGGGTGGCCTGGG	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.230G>T	3.37:g.186358823G>T	ENSP00000265029:p.Gly77Val	57	0		68	4	NM_014375	0	0	0	0	0	B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	G	6.762	0.509440	0.12883	.	.	ENSG00000090512	ENST00000450521;ENST00000265029	T;T	0.41400	1.0;1.0	5.11	-9.4	0.00616	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	1.927620	0.02193	N	0.061504	T	0.32615	0.0835	L	0.33485	1.01	0.09310	N	1	B	0.32010	0.351	B	0.35182	0.197	T	0.29852	-0.9998	10	0.32370	T	0.25	2.1245	12.8453	0.57827	0.659:0.0843:0.2567:0.0	.	77	Q9UGM5	FETUB_HUMAN	V	77	ENSP00000404288:G77V;ENSP00000265029:G77V	ENSP00000265029:G77V	G	+	2	0	FETUB	187841517	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-3.596000	0.00420	-3.106000	0.00243	-1.731000	0.00696	GGC	.		0.448	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375	
HRG	3273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	186389494	186389494	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:186389494C>A	ENST00000232003.4	+	4	554	c.474C>A	c.(472-474)gcC>gcA	p.A158A		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	158	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GAAAACAAGCCAACAAAGCCC	0.458																																					p.A158A		.											.	HRG-91	0			c.C474A						.						94.0	96.0	95.0					3																	186389494		2203	4300	6503	SO:0001819	synonymous_variant	3273	exon4			ACAAGCCAACAAA		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.474C>A	3.37:g.186389494C>A		219	1		263	130	NM_000412	0	0	0	0	0	B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	CCDS3280.1																																																																																			.		0.458	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
CCDC50	152137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	191107354	191107354	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:191107354C>T	ENST00000392455.3	+	10	1462	c.864C>T	c.(862-864)tcC>tcT	p.S288S	CCDC50_ENST00000392456.3_Silent_p.S464S	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	288						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGCAGAGTTCCACACGGCATT	0.398																																					p.S464S		.											.	CCDC50-90	0			c.C1392T						.						199.0	198.0	198.0					3																	191107354		2203	4300	6503	SO:0001819	synonymous_variant	152137	exon11			GAGTTCCACACGG	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.864C>T	3.37:g.191107354C>T		127	0		138	52	NM_178335	0	0	0	0	0	Q86VH7	Silent	SNP	ENST00000392455.3	37	CCDS33913.1																																																																																			.		0.398	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908	
OPA1	4976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	193376763	193376763	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:193376763C>T	ENST00000392438.3	+	22	2488	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L	OPA1_ENST00000361715.2_Silent_p.L771L|OPA1_ENST00000361908.3_Silent_p.L789L|OPA1_ENST00000361150.2_Silent_p.L753L|OPA1_ENST00000361510.2_Silent_p.L807L|OPA1_ENST00000361828.2_Silent_p.L770L	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	752					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGAAGAGGCTCTGCAGGCTCG	0.408																																					p.L807L		.											.	OPA1-68	0			c.C2419T						.						99.0	98.0	98.0					3																	193376763		2203	4300	6503	SO:0001819	synonymous_variant	4976	exon24			GAGGCTCTGCAGG	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2254C>T	3.37:g.193376763C>T		89	0		108	20	NM_130837	0	0	0	0	0	D3DNW4	Silent	SNP	ENST00000392438.3	37	CCDS43186.1																																																																																			.		0.408	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	
LRRC15	131578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	194080771	194080771	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:194080771C>A	ENST00000347624.3	-	2	1087	c.1002G>T	c.(1000-1002)ccG>ccT	p.P334P	LRRC15_ENST00000428839.1_Silent_p.P340P|LRRC15_ENST00000439944.2_Silent_p.P340P	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	334					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGAAGGCACCCGGGGAGATGA	0.572																																					p.P340P		.											.	LRRC15-71	0			c.G1020T						.						52.0	50.0	51.0					3																	194080771		2203	4300	6503	SO:0001819	synonymous_variant	131578	exon3			GGCACCCGGGGAG	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1002G>T	3.37:g.194080771C>A		158	0		183	28	NM_001135057	0	0	0	0	0	Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	CCDS3306.1																																																																																			.		0.572	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2		
ACAP2	23527	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	195022705	195022705	+	Nonsense_Mutation	SNP	C	C	A	rs372230587		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:195022705C>A	ENST00000326793.6	-	14	1545	c.1315G>T	c.(1315-1317)Gga>Tga	p.G439*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	439	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CGGTGAATTCCGGAGCACTCG	0.512																																					p.G439X		.											.	ACAP2-136	0			c.G1315T						.						109.0	114.0	113.0					3																	195022705		2203	4300	6503	SO:0001587	stop_gained	23527	exon14			GAATTCCGGAGCA		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1315G>T	3.37:g.195022705C>A	ENSP00000324287:p.Gly439*	180	1		213	39	NM_012287	0	0	0	0	0	A8K2V4|Q8N5Z8|Q9UQR3	Nonsense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	C	41	8.635523	0.98895	.	.	ENSG00000114331	ENST00000326793	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4402	0.94817	0.0:1.0:0.0:0.0	.	.	.	.	X	439	.	ENSP00000324287:G439X	G	-	1	0	ACAP2	196503994	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	7.776000	0.85560	2.838000	0.97847	0.591000	0.81541	GGA	.		0.512	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287	
PIGZ	80235	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	196674222	196674222	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:196674222G>C	ENST00000412723.1	-	3	1692	c.1546C>G	c.(1546-1548)Ctc>Gtc	p.L516V		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	516					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		AGGCGGCAGAGCCATGGCCCA	0.587																																					p.L516V		.											.	PIGZ-93	0			c.C1546G						.						44.0	45.0	45.0					3																	196674222		2203	4300	6503	SO:0001583	missense	80235	exon3			GGCAGAGCCATGG	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1546C>G	3.37:g.196674222G>C	ENSP00000413405:p.Leu516Val	90	1		114	56	NM_025163	0	0	0	0	0	Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481792	0.26598	.	.	ENSG00000119227	ENST00000412723	T	0.11930	2.73	5.09	4.22	0.49857	.	0.186507	0.26352	N	0.024875	T	0.10637	0.0260	L	0.27053	0.805	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.10776	-1.0615	10	0.28530	T	0.3	-13.0555	13.1809	0.59653	0.0777:0.0:0.9223:0.0	.	516	Q86VD9	PIGZ_HUMAN	V	516	ENSP00000413405:L516V	ENSP00000413405:L516V	L	-	1	0	PIGZ	198158619	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.419000	0.34793	1.298000	0.44778	-0.254000	0.11334	CTC	.		0.587	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163	
KIAA0226	9711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	197402298	197402298	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:197402298C>A	ENST00000296343.5	-	19	2734	c.2735G>T	c.(2734-2736)tGt>tTt	p.C912F	KIAA0226_ENST00000273582.5_Missense_Mutation_p.C867F|MIR922_ENST00000401223.1_RNA	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	912	Cys-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCACCTTCACAGGTCCGGCA	0.552																																					p.C912F	Esophageal Squamous(3;167 355 3763 15924)	.											.	KIAA0226-22	0			c.G2735T						.						161.0	159.0	160.0					3																	197402298		2056	4205	6261	SO:0001583	missense	9711	exon19			CCTTCACAGGTCC	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2735G>T	3.37:g.197402298C>A	ENSP00000296343:p.Cys912Phe	61	0		65	31	NM_014687	0	0	0	0	0	Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485233	0.84854	.	.	ENSG00000145016	ENST00000273582;ENST00000296343	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89846	0.6833	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92729	0.6198	9	0.87932	D	0	.	19.4092	0.94662	0.0:1.0:0.0:0.0	.	867;912	Q92622-2;Q92622	.;RUBIC_HUMAN	F	867;912	.	ENSP00000273582:C867F	C	-	2	0	KIAA0226	198886695	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.790000	0.85794	2.591000	0.87537	0.591000	0.81541	TGT	.		0.552	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	
KIAA0226	9711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	197420601	197420601	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:197420601C>T	ENST00000296343.5	-	11	1770	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	KIAA0226_ENST00000389665.5_Missense_Mutation_p.E591K|KIAA0226_ENST00000273582.5_Missense_Mutation_p.E546K	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	591	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATTTCAAATTCATCAACCTCA	0.428																																					p.E591K	Esophageal Squamous(3;167 355 3763 15924)	.											.	KIAA0226-22	0			c.G1771A						.						72.0	73.0	72.0					3																	197420601		1940	4155	6095	SO:0001583	missense	9711	exon11			CAAATTCATCAAC	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1771G>A	3.37:g.197420601C>T	ENSP00000296343:p.Glu591Lys	85	0		86	20	NM_014687	0	0	0	0	0	Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.937377|3.937377	0.73557|0.73557	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665|ENST00000415452	T;T|.	0.42900|.	0.96;0.96|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.191374|.	0.44688|.	D|.	0.000421|.	T|T	0.57873|0.57873	0.2083|0.2083	L|L	0.36672|0.36672	1.1|1.1	0.35920|0.35920	D|D	0.831721|0.831721	P;P;P|.	0.41232|.	0.743;0.619;0.485|.	B;B;B|.	0.43536|.	0.423;0.329;0.176|.	T|T	0.62077|0.62077	-0.6930|-0.6930	10|5	0.33940|.	T|.	0.23|.	.|.	15.2125|15.2125	0.73238|0.73238	0.0:0.8598:0.1401:0.0|0.0:0.8598:0.1401:0.0	.|.	591;546;591|.	Q92622-3;Q92622-2;Q92622|.	.;.;RUBIC_HUMAN|.	K|I	546;591;591|349	ENSP00000273582:E546K;ENSP00000296343:E591K|.	ENSP00000273582:E546K|.	E|M	-|-	1|3	0|0	KIAA0226|KIAA0226	198904998|198904998	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.997000|0.997000	0.91878|0.91878	4.885000|4.885000	0.63142|0.63142	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GAA|ATG	.		0.428	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	
UVSSA	57654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	1373968	1373968	+	Missense_Mutation	SNP	C	C	T	rs567453502		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:1373968C>T	ENST00000389851.4	+	11	2149	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	UVSSA_ENST00000512728.1_Missense_Mutation_p.R119C|UVSSA_ENST00000511216.1_Missense_Mutation_p.R568C|UVSSA_ENST00000507531.1_Missense_Mutation_p.R568C|UVSSA_ENST00000511563.1_Missense_Mutation_p.R119C	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	568					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GCACTGGTGCCGTGCCCCGAG	0.677																																					p.R568C		.											.	.	0			c.C1702T						.						52.0	48.0	50.0					4																	1373968		2201	4300	6501	SO:0001583	missense	57654	exon11			TGGTGCCGTGCCC	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1702C>T	4.37:g.1373968C>T	ENSP00000374501:p.Arg568Cys	177	0		288	122	NM_020894	0	0	0	0	0	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033971	0.35893	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.51574	1.24;1.24;1.24;0.7;0.7	4.87	3.97	0.46021	.	0.241113	0.42420	D	0.000717	T	0.68220	0.2977	M	0.82630	2.6	0.36793	D	0.884946	D	0.89917	1.0	D	0.70716	0.97	T	0.77996	-0.2377	10	0.87932	D	0	.	12.4999	0.55950	0.1215:0.745:0.1335:0.0	.	568	Q2YD98	K1530_HUMAN	C	119;568;568;568;119;119	ENSP00000425130:R568C;ENSP00000374501:R568C;ENSP00000421741:R568C;ENSP00000423340:R119C;ENSP00000427701:R119C	ENSP00000296312:R119C	R	+	1	0	KIAA1530	1363968	1.000000	0.71417	0.844000	0.33320	0.012000	0.07955	1.922000	0.40045	2.238000	0.73509	0.561000	0.74099	CGT	.		0.677	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894	
CRIPAK	285464	ucsc.edu;bcgsc.ca;mdanderson.org	37	4	1388416	1388416	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:1388416A>G	ENST00000324803.4	+	1	3077	c.117A>G	c.(115-117)cgA>cgG	p.R39R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	39					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)			ACACATGTCGATGCGGAGTGC	0.642																																					p.R39R		.											.	CRIPAK-90	0			c.A117G						.						204.0	195.0	198.0					4																	1388416		2203	4300	6503	SO:0001819	synonymous_variant	285464	exon1			ATGTCGATGCGGA	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.117A>G	4.37:g.1388416A>G		117	1		131	38	NM_175918	0	0	0	0	0	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			.		0.642	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																					p.104_106del		.											.	OTOP1-92	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	c.310_318del						.																																			SO:0001651	inframe_deletion	133060	exon1			CAGCATCCACAGC	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del	6	0		71	13	NM_177998	0	0	0	0	0	A1L476	In_Frame_Del	DEL	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
MSX1	4487	hgsc.bcm.edu;broad.mit.edu	37	4	4862086	4862086	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:4862086delC	ENST00000382723.4	+	1	694	c.460delC	c.(460-462)ccgfs	p.P155fs		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	155					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTCTCCCCGCCGCCGGCCAG	0.731																																					p.P154fs		.											.	MSX1-90	0			c.460delC						.						8.0	10.0	10.0					4																	4862086		1781	3746	5527	SO:0001589	frameshift_variant	4487	exon1			TCCCCGCCGCCGG	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.460delC	4.37:g.4862086delC	ENSP00000372170:p.Pro155fs	6	0		25	15	NM_002448	0	0	0	0	0	A0SZU5|A8K3M1|Q96NY4	Frame_Shift_Del	DEL	ENST00000382723.4	37	CCDS3378.2																																																																																			.		0.731	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3		
MSX1	4487	hgsc.bcm.edu	37	4	4862087	4862088	+	Frame_Shift_Del	DEL	CG	CG	-	rs545651715		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:4862087_4862088delCG	ENST00000382723.4	+	1	695_696	c.461_462delCG	c.(460-462)ccgfs	p.P155fs		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	155					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTCTCCCCGCCGCCGGCCAGTG	0.728																																					p.154_154del		.											.	MSX1-90	0			c.461_462del						.																																			SO:0001589	frameshift_variant	4487	exon1			CCCCGCCGCCGGC	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.461_462delCG	4.37:g.4862087_4862088delCG	ENSP00000372170:p.Pro155fs	6	0		25	0	NM_002448	0	0	0	0	0	A0SZU5|A8K3M1|Q96NY4	Frame_Shift_Del	DEL	ENST00000382723.4	37	CCDS3378.2																																																																																			.		0.728	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3		
MSX1	4487	hgsc.bcm.edu	37	4	4862088	4862088	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:4862088G>A	ENST00000382723.4	+	1	696	c.462G>A	c.(460-462)ccG>ccA	p.P154P		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	154					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCTCCCCGCCGCCGGCCAGTG	0.726																																					p.P154P		.											.	MSX1-90	0			c.G462A						.						8.0	10.0	10.0					4																	4862088		1755	3691	5446	SO:0001819	synonymous_variant	4487	exon1			CCCGCCGCCGGCC	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.462G>A	4.37:g.4862088G>A		6	0		24	14	NM_002448	0	0	0	0	0	A0SZU5|A8K3M1|Q96NY4	Silent	SNP	ENST00000382723.4	37	CCDS3378.2																																																																																			.		0.726	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3		
EVC	2121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	5749913	5749913	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:5749913C>G	ENST00000264956.6	+	8	1162	c.978C>G	c.(976-978)caC>caG	p.H326Q	EVC_ENST00000509451.1_Missense_Mutation_p.H326Q|EVC_ENST00000382674.2_Missense_Mutation_p.H326Q	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	326					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATATCCAGCACTTTCTTGTGG	0.453																																					p.H326Q		.											.	EVC-92	0			c.C978G						.						112.0	109.0	110.0					4																	5749913		2203	4300	6503	SO:0001583	missense	2121	exon8			CCAGCACTTTCTT	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.978C>G	4.37:g.5749913C>G	ENSP00000264956:p.His326Gln	103	0		98	51	NM_153717	0	0	0	0	0		Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484673	0.44147	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.45668	0.89;0.89;0.91	4.98	2.0	0.26442	.	0.477595	0.23795	N	0.044497	T	0.21841	0.0526	N	0.19112	0.55	0.58432	D	0.999995	B	0.17268	0.021	B	0.15484	0.013	T	0.04915	-1.0918	10	0.10902	T	0.67	.	7.711	0.28677	0.0:0.5577:0.3445:0.0978	.	326	P57679	EVC_HUMAN	Q	326	ENSP00000264956:H326Q;ENSP00000372120:H326Q;ENSP00000426774:H326Q	ENSP00000264956:H326Q	H	+	3	2	EVC	5800814	0.880000	0.30214	0.685000	0.30070	0.982000	0.71751	-0.010000	0.12743	1.089000	0.41292	0.609000	0.83330	CAC	.		0.453	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		
ZNF518B	85460	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	10446969	10446969	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:10446969T>A	ENST00000326756.3	-	3	1422	c.984A>T	c.(982-984)ccA>ccT	p.P328P		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	328					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CAACTGTCAATGGCATACCTG	0.438																																					p.P328P		.											.	ZNF518B-72	0			c.A984T						.						96.0	92.0	94.0					4																	10446969		2203	4300	6503	SO:0001819	synonymous_variant	85460	exon3			TGTCAATGGCATA	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.984A>T	4.37:g.10446969T>A		244	1		211	44	NM_053042	0	0	0	0	0	Q96LN8	Silent	SNP	ENST00000326756.3	37	CCDS33960.1																																																																																			.		0.438	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042	
BOD1L1	259282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	13615256	13615256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:13615256C>A	ENST00000040738.5	-	5	1339	c.1204G>T	c.(1204-1206)Gga>Tga	p.G402*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	402	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTGTAAGTCCATCCACATCA	0.353																																					p.G402X		.											.	.	0			c.G1204T						.						82.0	76.0	78.0					4																	13615256		2203	4300	6503	SO:0001587	stop_gained	259282	exon5			TAAGTCCATCCAC	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1204G>T	4.37:g.13615256C>A	ENSP00000040738:p.Gly402*	155	0		98	24	NM_148894	0	0	0	0	0	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	38	6.871295	0.97901	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.18	5.18	0.71444	.	0.000000	0.41001	D	0.000968	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-12.7246	19.0179	0.92901	0.0:1.0:0.0:0.0	.	.	.	.	X	402	.	ENSP00000040738:G402X	G	-	1	0	BOD1L	13224354	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.721000	0.68477	2.573000	0.86826	0.591000	0.81541	GGA	.		0.353	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
CC2D2A	57545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	15512967	15512967	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:15512967G>C	ENST00000503292.1	+	9	818	c.638G>C	c.(637-639)aGa>aCa	p.R213T	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000424120.1_Missense_Mutation_p.R213T|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R164T|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R213T	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	213					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCAAAAGCAAGACATAGAGCG	0.448																																					p.R213T		.											.	CC2D2A-25	0			c.G638C						.						99.0	96.0	97.0					4																	15512967		1912	4123	6035	SO:0001583	missense	57545	exon9			AAGCAAGACATAG	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.638G>C	4.37:g.15512967G>C	ENSP00000421809:p.Arg213Thr	97	0		112	28	NM_001080522	0	0	0	0	0	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	8.679	0.904605	0.17760	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	4.45	-0.584	0.11702	.	0.456568	0.22852	N	0.054841	T	0.18593	0.0446	L	0.40543	1.245	0.23889	N	0.996556	B;B;B	0.24426	0.043;0.103;0.045	B;B;B	0.26094	0.034;0.066;0.041	T	0.18999	-1.0319	10	0.56958	D	0.05	.	8.0209	0.30408	0.6286:0.0:0.3714:0.0	.	213;164;213	Q9P2K1;Q9P2K1-2;C9JKY6	C2D2A_HUMAN;.;.	T	213;213;164;164;213;213;164	ENSP00000403465:R213T;ENSP00000398391:R213T;ENSP00000422875:R213T;ENSP00000421809:R213T;ENSP00000374303:R164T	ENSP00000374303:R164T	R	+	2	0	CC2D2A	15122065	0.019000	0.18553	0.001000	0.08648	0.025000	0.11179	0.373000	0.20484	-0.071000	0.12886	-0.302000	0.09304	AGA	.		0.448	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522	
BST1	683	broad.mit.edu	37	4	15717413	15717413	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:15717413G>T	ENST00000265016.4	+	6	890	c.695G>T	c.(694-696)gGa>gTa	p.G232V	BST1_ENST00000382346.3_Missense_Mutation_p.G247V	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	232					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						GAAATTGGGGGACCCAATGTG	0.318																																					p.G232V		.											.	BST1-90	0			c.G695T						.						71.0	74.0	73.0					4																	15717413		2203	4300	6503	SO:0001583	missense	683	exon6			TTGGGGGACCCAA	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.695G>T	4.37:g.15717413G>T	ENSP00000265016:p.Gly232Val	66	2		62	21	NM_004334	0	0	0	0	0	B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	ENST00000265016.4	37	CCDS3416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.876545|2.876545	0.51801|0.51801	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000505785;ENST00000514989|ENST00000265016;ENST00000382346;ENST00000514445	.|T;T;T	.|0.20463	.|2.07;2.07;2.07	5.56|5.56	2.8|2.8	0.32819|0.32819	.|NAD(P)-binding domain (1);	.|0.673374	.|0.15609	.|N	.|0.253476	T|T	0.40719|0.40719	0.1128|0.1128	M|M	0.78049|0.78049	2.395|2.395	0.25404|0.25404	N|N	0.98842|0.98842	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.69307	.|0.963;0.932	T|T	0.15896|0.15896	-1.0421|-1.0421	5|10	.|0.72032	.|D	.|0.01	-4.6629|-4.6629	5.3634|5.3634	0.16101|0.16101	0.1773:0.0:0.6569:0.1658|0.1773:0.0:0.6569:0.1658	.|.	.|247;232	.|A6NC48;Q10588	.|.;BST1_HUMAN	Y|V	128;40|232;247;82	.|ENSP00000265016:G232V;ENSP00000371783:G247V;ENSP00000420925:G82V	.|ENSP00000265016:G232V	D|G	+|+	1|2	0|0	BST1|BST1	15326511|15326511	0.986000|0.986000	0.35501|0.35501	0.007000|0.007000	0.13788|0.13788	0.933000|0.933000	0.57130|0.57130	1.493000|1.493000	0.35605|0.35605	0.792000|0.792000	0.33850|0.33850	0.655000|0.655000	0.94253|0.94253	GAC|GGA	.		0.318	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334	
CLRN2	645104	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	17524572	17524572	+	Silent	SNP	G	G	T	rs375017288		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:17524572G>T	ENST00000511148.2	+	2	441	c.339G>T	c.(337-339)ctG>ctT	p.L113L		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	113			L -> V (in dbSNP:rs13147559).			integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCCTGGCTCTGGTCAGCATGG	0.577																																					p.L113L		.											.	CLRN2-68	0			c.G339T						.						101.0	107.0	105.0					4																	17524572		2146	4253	6399	SO:0001819	synonymous_variant	645104	exon2			GGCTCTGGTCAGC		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.339G>T	4.37:g.17524572G>T		103	1		99	26	NM_001079827	0	0	0	0	0		Silent	SNP	ENST00000511148.2	37	CCDS47032.1																																																																																			.		0.577	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827	
DCAF16	54876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	17805608	17805608	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:17805608C>A	ENST00000382247.1	-	3	1217	c.157G>T	c.(157-159)Gcc>Tcc	p.A53S	DCAF16_ENST00000536863.1_Missense_Mutation_p.A53S|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	53					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						ACCTGCCAGGCAAGACTCTCA	0.418																																					p.A53S		.											.	DCAF16-91	0			c.G157T						.						76.0	84.0	82.0					4																	17805608		2203	4300	6503	SO:0001583	missense	54876	exon3			GCCAGGCAAGACT	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"""DDB1 and CUL4 associated factors"""	25987	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 30"""	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.157G>T	4.37:g.17805608C>A	ENSP00000371682:p.Ala53Ser	101	0		77	8	NM_017741	0	0	0	0	0	B3KPB7	Missense_Mutation	SNP	ENST00000382247.1	37	CCDS3423.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779862	0.31502	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	T;T	0.38077	1.16;1.16	4.1	2.34	0.29019	.	.	.	.	.	T	0.16769	0.0403	N	0.08118	0	0.21553	N	0.999641	B	0.30889	0.299	B	0.24269	0.052	T	0.14924	-1.0455	9	0.87932	D	0	-6.2557	5.66	0.17664	0.0:0.6925:0.1999:0.1076	.	53	Q9NXF7	DCA16_HUMAN	S	53	ENSP00000371682:A53S;ENSP00000445736:A53S	ENSP00000371682:A53S	A	-	1	0	DCAF16	17414706	0.998000	0.40836	0.996000	0.52242	0.678000	0.39670	0.612000	0.24283	0.672000	0.31204	-0.258000	0.10820	GCC	.		0.418	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741	
SLIT2	9353	ucsc.edu;bcgsc.ca	37	4	20529995	20529995	+	Intron	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:20529995G>T	ENST00000504154.1	+	16	1714				MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000273739.5_Intron|SLIT2_ENST00000503837.1_Intron|SLIT2_ENST00000503823.1_Intron	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGAACGTCACGCAGCTTTCTA	0.418																																					.		.											.	.	0			.						.						137.0	117.0	123.0					4																	20529995		1568	3582	5150	SO:0001627	intron_variant	407000	.			CGTCACGCAGCTT	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1463-577G>T	4.37:g.20529995G>T		114	0		110	20	.	0	0	0	0	0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	RNA	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																			.		0.418	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
SLIT2	9353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	20530599	20530599	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:20530599G>T	ENST00000504154.1	+	16	1742	c.1490G>T	c.(1489-1491)aGt>aTt	p.S497I	MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000273739.5_Missense_Mutation_p.S501I|SLIT2_ENST00000503837.1_Missense_Mutation_p.S493I|SLIT2_ENST00000503823.1_Missense_Mutation_p.S489I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	497	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCAAAATTAAGTGGAGACTGC	0.378																																					p.S497I		.											.	SLIT2-521	0			c.G1490T						.						107.0	110.0	109.0					4																	20530599		2203	4300	6503	SO:0001583	missense	9353	exon16			AATTAAGTGGAGA	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1490G>T	4.37:g.20530599G>T	ENSP00000422591:p.Ser497Ile	61	0		42	5	NM_004787	0	0	0	0	0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649685	0.67358	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81078	-1.43;-1.45;-1.36;-1.39	5.93	5.1	0.69264	.	0.039780	0.85682	D	0.000000	T	0.80523	0.4639	L	0.53249	1.67	0.58432	D	0.999999	P;P	0.40875	0.684;0.731	B;B	0.43386	0.354;0.418	T	0.82484	-0.0434	10	0.87932	D	0	.	15.0996	0.72262	0.0677:0.0:0.9323:0.0	.	489;497	O94813-3;O94813	.;SLIT2_HUMAN	I	489;497;501;493;493	ENSP00000427548:S489I;ENSP00000422591:S497I;ENSP00000273739:S501I;ENSP00000422261:S493I	ENSP00000273739:S501I	S	+	2	0	SLIT2	20139697	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.628000	0.83189	1.512000	0.48834	-0.136000	0.14681	AGT	.		0.378	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
SLIT2	9353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	20543086	20543086	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:20543086G>C	ENST00000504154.1	+	20	2239	c.1987G>C	c.(1987-1989)Gcc>Ccc	p.A663P	SLIT2_ENST00000273739.5_Missense_Mutation_p.A667P|SLIT2_ENST00000503837.1_Missense_Mutation_p.A659P|SLIT2_ENST00000503823.1_Missense_Mutation_p.A655P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	663					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAACCTCTTGGCCAATCCTTT	0.458																																					p.A663P		.											.	SLIT2-521	0			c.G1987C						.						103.0	90.0	95.0					4																	20543086		2203	4300	6503	SO:0001583	missense	9353	exon20			CTCTTGGCCAATC	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1987G>C	4.37:g.20543086G>C	ENSP00000422591:p.Ala663Pro	142	0		128	58	NM_004787	0	0	0	0	0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928076	0.92389	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.77557	0.92;0.99	T	0.70970	-0.4727	10	0.33141	T	0.24	.	20.2386	0.98365	0.0:0.0:1.0:0.0	.	655;663	O94813-3;O94813	.;SLIT2_HUMAN	P	655;663;667;659;659	ENSP00000427548:A655P;ENSP00000422591:A663P;ENSP00000273739:A667P;ENSP00000422261:A659P	ENSP00000273739:A667P	A	+	1	0	SLIT2	20152184	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.513000	0.81739	2.871000	0.98454	0.655000	0.94253	GCC	.		0.458	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
SLIT2	9353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	20550717	20550717	+	Missense_Mutation	SNP	C	C	G	rs143383158		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:20550717C>G	ENST00000504154.1	+	24	2707	c.2455C>G	c.(2455-2457)Cgc>Ggc	p.R819G	SLIT2_ENST00000273739.5_Missense_Mutation_p.R823G|SLIT2_ENST00000503837.1_Missense_Mutation_p.R815G|SLIT2_ENST00000503823.1_Missense_Mutation_p.R811G|SLIT2_ENST00000509394.2_3'UTR	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	819					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TATTCCTCCTCGCACCTTTGA	0.353																																					p.R819G		.											.	SLIT2-521	0			c.C2455G						.						128.0	119.0	122.0					4																	20550717		2202	4299	6501	SO:0001583	missense	9353	exon24			CCTCCTCGCACCT	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2455C>G	4.37:g.20550717C>G	ENSP00000422591:p.Arg819Gly	56	0		79	31	NM_004787	0	0	0	0	0	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333167	0.41297	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.77	5.77	0.91146	.	0.053482	0.64402	D	0.000001	T	0.31263	0.0791	N	0.01800	-0.715	0.47949	D	0.999559	B;B	0.14805	0.005;0.011	B;B	0.19391	0.009;0.025	T	0.17289	-1.0374	10	0.23302	T	0.38	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	811;819	O94813-3;O94813	.;SLIT2_HUMAN	G	811;819;823;815;815;20	ENSP00000427548:R811G;ENSP00000422591:R819G;ENSP00000273739:R823G;ENSP00000422261:R815G;ENSP00000421975:R20G	ENSP00000273739:R823G	R	+	1	0	SLIT2	20159815	0.789000	0.28775	0.993000	0.49108	0.992000	0.81027	1.522000	0.35921	2.890000	0.99128	0.585000	0.79938	CGC	C|1.000;T|0.000		0.353	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
PACRGL	133015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	20711305	20711305	+	Splice_Site	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:20711305G>C	ENST00000503585.1	+	5	666		c.e5-1		PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000360916.5_Splice_Site|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000295290.8_Splice_Site|PACRGL_ENST00000507634.1_Splice_Site|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000538990.1_Intron	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like											endometrium(2)|lung(7)|prostate(1)	10						TTATATTTTAGATTGGTACAT	0.294																																					.		.											.	PACRGL-68	0			c.276-1G>C						.						95.0	99.0	98.0					4																	20711305		2203	4298	6501	SO:0001630	splice_region_variant	133015	exon5			ATTTTAGATTGGT	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.276-1G>C	4.37:g.20711305G>C		46	0		28	15	NM_001258345	0	0	0	0	0	B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Splice_Site	SNP	ENST00000503585.1	37	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733655	0.69189	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000514663;ENST00000509469;ENST00000513590;ENST00000507634;ENST00000506457	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PACRGL	20320403	1.000000	0.71417	0.775000	0.31657	0.863000	0.49368	7.498000	0.81546	2.777000	0.95525	0.591000	0.81541	.	.		0.294	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048	Intron
PPARGC1A	10891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	23815899	23815899	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:23815899C>G	ENST00000264867.2	-	8	1326	c.1207G>C	c.(1207-1209)Gag>Cag	p.E403Q	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	403	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCTTGGAGCTCCTGTGATATA	0.443																																					p.E403Q	Esophageal Squamous(29;694 744 13796 34866 44181)	.											.	PPARGC1A-230	0			c.G1207C						.						70.0	71.0	70.0					4																	23815899		2203	4300	6503	SO:0001583	missense	10891	exon8			GGAGCTCCTGTGA	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1207G>C	4.37:g.23815899C>G	ENSP00000264867:p.Glu403Gln	40	0		45	19	NM_013261	0	0	0	0	0	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597998	0.28445	.	.	ENSG00000109819	ENST00000264867	T	0.24723	1.84	6.16	6.16	0.99307	.	0.150022	0.64402	D	0.000011	T	0.30008	0.0751	M	0.64997	1.995	0.80722	D	1	B	0.31077	0.307	B	0.24155	0.051	T	0.03095	-1.1073	10	0.25751	T	0.34	-12.2623	20.8598	0.99761	0.0:1.0:0.0:0.0	.	403	Q9UBK2	PRGC1_HUMAN	Q	403	ENSP00000264867:E403Q	ENSP00000264867:E403Q	E	-	1	0	PPARGC1A	23424997	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.759000	0.55227	2.937000	0.99478	0.650000	0.86243	GAG	.		0.443	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261	
STIM2	57620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	26997095	26997095	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:26997095A>T	ENST00000467011.1	+	4	917	c.492A>T	c.(490-492)aaA>aaT	p.K164N	STIM2_ENST00000467087.1_Missense_Mutation_p.K164N|STIM2_ENST00000237364.5_Missense_Mutation_p.K251N|STIM2_ENST00000382009.3_Missense_Mutation_p.K251N|STIM2_ENST00000465503.1_Missense_Mutation_p.K164N|STIM2_ENST00000412829.2_Missense_Mutation_p.K251N	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	164	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				ACAATGTCAAAGGAACGACAC	0.388																																					p.K164N		.											.	STIM2-91	0			c.A492T						.						112.0	117.0	115.0					4																	26997095		2203	4300	6503	SO:0001583	missense	57620	exon4			TGTCAAAGGAACG	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.492A>T	4.37:g.26997095A>T	ENSP00000419383:p.Lys164Asn	71	0		57	20	NM_001169118	0	0	0	0	0	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	A	8.582	0.882570	0.17467	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	4.64	3.39	0.38822	.	0.255793	0.44688	D	0.000422	T	0.14141	0.0342	N	0.01729	-0.75	0.37202	D	0.904435	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.12837	0.006;0.008;0.005	T	0.10042	-1.0647	10	0.09590	T	0.72	.	6.6436	0.22923	0.7757:0.0:0.0799:0.1444	.	251;251;251	A6H8L7;E9PGD0;F5GXJ4	.;.;.	N	164;251;251;164;251;164	ENSP00000419073:K164N;ENSP00000371439:K251N;ENSP00000237364:K251N;ENSP00000419383:K164N;ENSP00000404812:K251N;ENSP00000417569:K164N	ENSP00000237364:K251N	K	+	3	2	STIM2	26606193	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.715000	0.25822	0.682000	0.31407	0.482000	0.46254	AAA	.		0.388	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	
PCDH7	5099	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	30724205	30724205	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:30724205C>A	ENST00000361762.2	+	1	2169	c.1161C>A	c.(1159-1161)gcC>gcA	p.A387A	PCDH7_ENST00000543491.1_Silent_p.A387A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	387	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGGTCATGGCCCGCGACCGCG	0.637																																					p.A387A		.											.	PCDH7-229	0			c.C1161A						.						26.0	32.0	30.0					4																	30724205		2195	4292	6487	SO:0001819	synonymous_variant	5099	exon1			CATGGCCCGCGAC	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1161C>A	4.37:g.30724205C>A		226	1		378	166	NM_032457	0	0	0	0	0	O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	6.838	0.523755	0.13066	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.48	2.7	0.31948	.	.	.	.	.	T	0.61937	0.2387	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56523	-0.7965	4	.	.	.	.	12.1074	0.53820	0.1255:0.5106:0.3639:0.0	.	.	.	.	T	77	.	.	P	+	1	0	PCDH7	30333303	0.958000	0.32768	1.000000	0.80357	0.812000	0.45895	0.112000	0.15479	0.234000	0.21139	-0.175000	0.13238	CCG	.		0.637	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	30725203	30725203	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:30725203C>A	ENST00000361762.2	+	1	3167	c.2159C>A	c.(2158-2160)cCt>cAt	p.P720H	PCDH7_ENST00000543491.1_Missense_Mutation_p.P720H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	720	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGGGGAGATCCTCCCAGATCT	0.458																																					p.P720H		.											.	PCDH7-229	0			c.C2159A						.						101.0	97.0	98.0					4																	30725203		2203	4300	6503	SO:0001583	missense	5099	exon1			GAGATCCTCCCAG	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2159C>A	4.37:g.30725203C>A	ENSP00000355243:p.Pro720His	200	0		167	42	NM_032457	0	0	0	0	0	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624883	0.66901	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.56941	0.43;0.43	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78929	0.4361	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83131	-0.0113	9	0.87932	D	0	.	19.0454	0.93018	0.0:1.0:0.0:0.0	.	720;673;720	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	H	720;720;673	ENSP00000355243:P720H;ENSP00000441802:P720H	ENSP00000330302:P673H	P	+	2	0	PCDH7	30334301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.722000	0.93159	0.655000	0.94253	CCT	.		0.458	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	30726108	30726108	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:30726108C>A	ENST00000361762.2	+	1	4072	c.3064C>A	c.(3064-3066)Caa>Aaa	p.Q1022K	PCDH7_ENST00000543491.1_Missense_Mutation_p.Q1022K	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1022					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCAGGCCGTACAAGATCTACC	0.468																																					p.Q1022K		.											.	PCDH7-229	0			c.C3064A						.						97.0	100.0	99.0					4																	30726108		2203	4300	6503	SO:0001583	missense	5099	exon1			GCCGTACAAGATC	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.3064C>A	4.37:g.30726108C>A	ENSP00000355243:p.Gln1022Lys	145	0		122	41	NM_032457	0	0	0	0	0	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.46|18.46	3.629770|3.629770	0.67015|0.67015	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.46063|.	0.88;0.88|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.77512|0.77512	0.4141|0.4141	M|M	0.78456|0.78456	2.415|2.415	0.54753|0.54753	D|D	0.999983|0.999983	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.87578|.	0.997;0.99;0.998|.	T|T	0.77814|0.77814	-0.2448|-0.2448	9|5	0.87932|.	D|.	0|.	.|.	18.2504|18.2504	0.90000|0.90000	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1022;975;1022|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	K|K	1022;1022;975|711	ENSP00000355243:Q1022K;ENSP00000441802:Q1022K|.	ENSP00000330302:Q975K|.	Q|T	+|+	1|2	0|0	PCDH7|PCDH7	30335206|30335206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.320000|7.320000	0.79064|0.79064	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	CAA|ACA	.		0.468	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
ARAP2	116984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	36214095	36214095	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:36214095C>A	ENST00000303965.4	-	5	1545	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	352					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.K352N(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAAATTCATTCTTTATAGATC	0.343																																					p.K352N		.											.	ARAP2-93	1	Substitution - Missense(1)	large_intestine(1)	c.G1056T						.						106.0	101.0	102.0					4																	36214095		2203	4299	6502	SO:0001583	missense	116984	exon5			TTCATTCTTTATA	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1056G>T	4.37:g.36214095C>A	ENSP00000302895:p.Lys352Asn	51	0		28	9	NM_015230	0	0	0	0	0	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069728	0.36470	.	.	ENSG00000047365	ENST00000303965	T	0.10005	2.92	5.64	3.0	0.34707	.	0.533626	0.19756	N	0.106764	T	0.12944	0.0314	L	0.56769	1.78	0.34321	D	0.686619	P;P	0.41313	0.745;0.664	B;B	0.41236	0.351;0.102	T	0.14531	-1.0469	10	0.72032	D	0.01	.	8.1359	0.31054	0.0:0.7469:0.0:0.2531	.	282;352	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	N	352	ENSP00000302895:K352N	ENSP00000302895:K352N	K	-	3	2	ARAP2	35890490	0.446000	0.25665	0.989000	0.46669	0.663000	0.39108	0.081000	0.14823	0.412000	0.25729	0.655000	0.94253	AAG	.		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
CHRNA9	55584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	40337897	40337897	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:40337897G>C	ENST00000310169.2	+	2	257	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	40					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TGACCTTTTTGAAGATTATTC	0.403																																					p.E40Q	Esophageal Squamous(115;1297 1602 22235 25158 43327)	.											.	CHRNA9-96	0			c.G118C						.						168.0	158.0	161.0					4																	40337897		2203	4300	6503	SO:0001583	missense	55584	exon2			CTTTTTGAAGATT	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.118G>C	4.37:g.40337897G>C	ENSP00000312663:p.Glu40Gln	167	0		162	41	NM_017581	0	0	0	0	0	Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564854	0.45694	.	.	ENSG00000174343	ENST00000310169	T	0.80033	-1.33	5.76	4.92	0.64577	Neurotransmitter-gated ion-channel ligand-binding (3);	0.043567	0.85682	D	0.000000	T	0.70509	0.3232	N	0.16368	0.405	0.53688	D	0.999974	B	0.24092	0.097	B	0.35114	0.196	T	0.69018	-0.5256	10	0.56958	D	0.05	.	10.6258	0.45506	0.0714:0.1342:0.7944:0.0	.	40	Q9UGM1	ACHA9_HUMAN	Q	40	ENSP00000312663:E40Q	ENSP00000312663:E40Q	E	+	1	0	CHRNA9	40032654	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.351000	0.73022	2.733000	0.93635	0.467000	0.42956	GAA	.		0.403	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1		
DCAF4L1	285429	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	41984385	41984385	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:41984385C>G	ENST00000333141.5	+	1	673	c.576C>G	c.(574-576)ctC>ctG	p.L192L		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	192										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CGTGGTCCCTCAACACCCGGG	0.567																																					p.L192L		.											.	DCAF4L1-23	0			c.C576G						.						118.0	112.0	114.0					4																	41984385		2203	4300	6503	SO:0001819	synonymous_variant	285429	exon1			GTCCCTCAACACC	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.576C>G	4.37:g.41984385C>G		270	0		209	19	NM_001029955	0	0	0	0	0	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	CCDS33978.1																																																																																			.		0.567	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955	
GRXCR1	389207	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	42895306	42895306	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:42895306C>A	ENST00000399770.2	+	1	23	c.23C>A	c.(22-24)cCa>cAa	p.P8Q	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	8					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAGATGAAGCCAGAAAGTGAC	0.512																																					p.P8Q		.											.	GRXCR1-23	0			c.C23A						.						91.0	98.0	96.0					4																	42895306		2027	4179	6206	SO:0001583	missense	389207	exon1			TGAAGCCAGAAAG		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.23C>A	4.37:g.42895306C>A	ENSP00000382670:p.Pro8Gln	254	0		242	43	NM_001080476	0	0	0	0	0		Missense_Mutation	SNP	ENST00000399770.2	37	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711548	0.30322	.	.	ENSG00000215203	ENST00000399770	T	0.33654	1.4	5.83	5.83	0.93111	.	0.239925	0.33382	U	0.004973	T	0.29817	0.0745	N	0.22421	0.69	0.34619	D	0.718393	B	0.29085	0.232	B	0.32533	0.147	T	0.25502	-1.0130	10	0.18710	T	0.47	-8.4551	19.1238	0.93374	0.0:1.0:0.0:0.0	.	8	A8MXD5	GRCR1_HUMAN	Q	8	ENSP00000382670:P8Q	ENSP00000382670:P8Q	P	+	2	0	GRXCR1	42590063	0.042000	0.20092	0.979000	0.43373	0.018000	0.09664	2.101000	0.41787	2.755000	0.94549	0.650000	0.86243	CCA	.		0.512	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476	
KCTD8	386617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	44177094	44177094	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:44177094C>A	ENST00000360029.3	-	2	1418	c.1135G>T	c.(1135-1137)Gca>Tca	p.A379S		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	379					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGAGCTGTTGCCTGCTGGGCA	0.502										HNSCC(17;0.042)																											p.A379S		.											.	KCTD8-92	0			c.G1135T						.						157.0	148.0	151.0					4																	44177094		2203	4300	6503	SO:0001583	missense	386617	exon2			CTGTTGCCTGCTG	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1135G>T	4.37:g.44177094C>A	ENSP00000353129:p.Ala379Ser	121	0		108	32	NM_198353	0	0	0	0	0	A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.264|3.264	-0.150461|-0.150461	0.06585|0.06585	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000360029|ENST00000515268	T|.	0.36878|.	1.23|.	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	0.141093|.	0.32401|.	N|.	0.006159|.	T|T	0.19366|0.19366	0.0465|0.0465	N|N	0.02539|0.02539	-0.55|-0.55	0.31967|0.31967	N|N	0.607677|0.607677	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.16276|0.16276	-1.0408|-1.0408	10|5	0.31617|.	T|.	0.26|.	.|.	10.4115|10.4115	0.44296|0.44296	0.3042:0.6958:0.0:0.0|0.3042:0.6958:0.0:0.0	.|.	379|.	Q6ZWB6|.	KCTD8_HUMAN|.	S|S	379|114	ENSP00000353129:A379S|.	ENSP00000353129:A379S|.	A|R	-|-	1|3	0|2	KCTD8|KCTD8	43871851|43871851	0.930000|0.930000	0.31532|0.31532	0.996000|0.996000	0.52242|0.52242	0.124000|0.124000	0.20399|0.20399	0.353000|0.353000	0.20130|0.20130	2.469000|2.469000	0.83416|0.83416	0.585000|0.585000	0.79938|0.79938	GCA|AGG	.		0.502	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1		
GABRG1	2565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	46060307	46060307	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:46060307G>T	ENST00000295452.4	-	7	1010	c.843C>A	c.(841-843)tgC>tgA	p.C281*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	281					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGTCAGAATGCATGGAATGT	0.343																																					p.C281X		.											.	GABRG1-92	0			c.C843A						.						103.0	103.0	103.0					4																	46060307		2203	4300	6503	SO:0001587	stop_gained	2565	exon7			CAGAATGCATGGA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.843C>A	4.37:g.46060307G>T	ENSP00000295452:p.Cys281*	189	0		177	60	NM_173536	0	0	0	0	0	Q5H9T8	Nonsense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554874	0.96514	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	.	.	.	5.52	-0.775	0.10988	.	0.093829	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.035	0.47795	0.711:0.0:0.289:0.0	.	.	.	.	X	281	.	ENSP00000295452:C281X	C	-	3	2	GABRG1	45755064	0.999000	0.42202	0.995000	0.50966	0.880000	0.50808	0.553000	0.23391	-0.012000	0.14223	-0.151000	0.13558	TGC	.		0.343	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
SGCB	6443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	52895076	52895076	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:52895076C>A	ENST00000381431.5	-	4	663	c.441G>T	c.(439-441)caG>caT	p.Q147H	SGCB_ENST00000535450.1_Missense_Mutation_p.Q77H	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	147	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTGTCCCTTGCTGAAAAACAA	0.294																																					p.Q147H		.											.	SGCB-90	0			c.G441T						.						53.0	52.0	53.0					4																	52895076		2203	4299	6502	SO:0001583	missense	6443	exon4			CCCTTGCTGAAAA	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.441G>T	4.37:g.52895076C>A	ENSP00000370839:p.Gln147His	42	0		45	15	NM_000232	0	0	0	0	0	B7Z635|O00661	Missense_Mutation	SNP	ENST00000381431.5	37	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990260	0.54041	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.94537	-3.45;-3.45	5.36	5.36	0.76844	.	0.050943	0.85682	D	0.000000	D	0.95085	0.8408	L	0.40543	1.245	0.80722	D	1	P;P	0.48998	0.918;0.918	P;P	0.57776	0.827;0.827	D	0.94771	0.7945	10	0.45353	T	0.12	-8.097	18.0782	0.89435	0.0:1.0:0.0:0.0	.	77;147	B7Z635;Q16585	.;SGCB_HUMAN	H	147;77	ENSP00000370839:Q147H;ENSP00000441199:Q77H	ENSP00000370839:Q147H	Q	-	3	2	SGCB	52589833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.076000	0.57591	2.528000	0.85240	0.655000	0.94253	CAG	.		0.294	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2		
SPATA18	132671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	52944930	52944930	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:52944930C>A	ENST00000295213.4	+	8	1424	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	SPATA18_ENST00000419395.2_Missense_Mutation_p.F318L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	350					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAATGGCATTCAGACACTTCA	0.388																																					p.F350L		.											.	SPATA18-72	0			c.C1050A						.						184.0	160.0	168.0					4																	52944930		2203	4300	6503	SO:0001583	missense	132671	exon8			GGCATTCAGACAC	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1050C>A	4.37:g.52944930C>A	ENSP00000295213:p.Phe350Leu	101	0		105	27	NM_145263	0	0	0	0	0	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402534	0.42613	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.27402	1.67;1.67	4.99	4.15	0.48705	.	0.116357	0.64402	D	0.000011	T	0.45895	0.1365	L	0.55481	1.735	0.36806	D	0.885639	D;D;D	0.71674	0.994;0.994;0.998	D;D;D	0.76071	0.922;0.922;0.987	T	0.53975	-0.8362	10	0.72032	D	0.01	-25.2119	7.6117	0.28135	0.0:0.8142:0.0:0.1857	.	318;350;350	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	L	350;318	ENSP00000295213:F350L;ENSP00000415309:F318L	ENSP00000295213:F350L	F	+	3	2	SPATA18	52639687	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	1.579000	0.36536	1.331000	0.45412	0.655000	0.94253	TTC	.		0.388	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	
TMEM165	55858	hgsc.bcm.edu	37	4	56262374	56262374	+	Silent	SNP	A	A	G	rs1128141	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:56262374A>G	ENST00000381334.5	+	1	251	c.18A>G	c.(16-18)ccA>ccG	p.P6P	TMEM165_ENST00000506198.1_Silent_p.P6P|SRD5A3-AS1_ENST00000598819.1_RNA|SRD5A3-AS1_ENST00000601433.1_RNA|TMEM165_ENST00000542052.1_5'UTR|SRD5A3-AS1_ENST00000599135.1_RNA|SRD5A3-AS1_ENST00000592823.1_RNA	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	6					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			CCGCGGCTCCAGGGAACGGCC	0.751													a|||	3782	0.755192	0.8654	0.7176	5008	,	,		8141	0.6776		0.6511	False		,,,				2504	0.82				p.P6P		.											.	TMEM165-514	0			c.A18G						.						1.0	2.0	2.0					4																	56262374		1230	2885	4115	SO:0001819	synonymous_variant	55858	exon1			GGCTCCAGGGAAC	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.18A>G	4.37:g.56262374A>G		0	0		6	6	NM_018475	0	0	0	0	0	A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Silent	SNP	ENST00000381334.5	37	CCDS3499.1																																																																																			T|0.293;G|0.003		0.751	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475	
NMU	10874	hgsc.bcm.edu	37	4	56502304	56502304	+	Missense_Mutation	SNP	G	G	T	rs35771241	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:56502304G>T	ENST00000264218.3	-	1	161	c.56C>A	c.(55-57)gCg>gAg	p.A19E	NMU_ENST00000505262.1_Missense_Mutation_p.A19E|NMU_ENST00000511469.1_Missense_Mutation_p.A19E|NMU_ENST00000515325.1_Intron|NMU_ENST00000507338.1_Missense_Mutation_p.A19E	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	19					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		gagcGGGGACGCCGCGGCCAC	0.761													G|||	88	0.0175719	0.0038	0.0245	5008	,	,		10083	0.0		0.0577	False		,,,				2504	0.0082				p.A19E		.											.	NMU-650	0			c.C56A	GRCh37	CM066152	NMU	M	rs35771241	.	G	GLU/ALA	34,3224		0,34,1595	5.0	7.0	6.0		56	1.1	0.0	4	dbSNP_126	6	262,5824		1,260,2782	no	missense	NMU	NM_006681.2	107	1,294,4377	TT,TG,GG		4.305,1.0436,3.1678	benign	19/175	56502304	296,9048	1629	3043	4672	SO:0001583	missense	10874	exon1			GGGGACGCCGCGG	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.56C>A	4.37:g.56502304G>T	ENSP00000264218:p.Ala19Glu	0	0		24	18	NM_006681	0	0	0	0	0		Missense_Mutation	SNP	ENST00000264218.3	37	CCDS3501.1	64	0.029304029304029304	6	0.012195121951219513	16	0.04419889502762431	0	0.0	42	0.055408970976253295	G	14.57	2.576146	0.45902	0.010436	0.04305	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T;T	0.38887	1.11;1.25;1.19;1.18	2.89	1.06	0.20224	.	0.337479	0.19087	U	0.123078	T	0.03959	0.0111	L	0.44542	1.39	0.09310	N	1	D	0.54397	0.966	P	0.45195	0.473	T	0.03784	-1.1004	10	0.52906	T	0.07	-8.0688	3.8411	0.08914	0.1476:0.2562:0.5962:0.0	rs35771241	19	P48645	NMU_HUMAN	E	19	ENSP00000422399:A19E;ENSP00000264218:A19E;ENSP00000424246:A19E;ENSP00000422870:A19E	ENSP00000264218:A19E	A	-	2	0	NMU	56197061	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	-0.032000	0.12266	0.255000	0.21593	0.195000	0.17529	GCG	G|0.970;T|0.030		0.761	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2		
EXOC1	55763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	56763013	56763013	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:56763013G>T	ENST00000381295.2	+	16	2432	c.2084G>T	c.(2083-2085)cGt>cTt	p.R695L	EXOC1_ENST00000346134.7_Missense_Mutation_p.R695L|EXOC1_ENST00000349598.6_Missense_Mutation_p.R680L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	695					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GCTGAGCGTCGTGGAGACCTG	0.333																																					p.R695L		.											.	EXOC1-950	0			c.G2084T						.						81.0	82.0	81.0					4																	56763013		2203	4300	6503	SO:0001583	missense	55763	exon16			AGCGTCGTGGAGA	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2084G>T	4.37:g.56763013G>T	ENSP00000370695:p.Arg695Leu	101	0		79	29	NM_018261	0	0	0	0	0	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303112	0.95601	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.84488	0.5483	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.987	D	0.85452	0.1161	9	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	680;695	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	L	695;695;680	.	ENSP00000326514:R695L	R	+	2	0	EXOC1	56457770	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.461000	0.97646	2.814000	0.96858	0.563000	0.77884	CGT	.		0.333	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261	
POLR2B	5431	hgsc.bcm.edu;bcgsc.ca	37	4	57889607	57889609	+	In_Frame_Del	DEL	ATG	ATG	-	rs372510748		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	ATG	ATG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:57889607_57889609delATG	ENST00000381227.1	+	20	3040_3042	c.2627_2629delATG	c.(2626-2631)aatgaa>aaa	p.876_877NE>K	POLR2B_ENST00000441246.2_In_Frame_Del_p.869_870NE>K|POLR2B_ENST00000431623.2_In_Frame_Del_p.801_802NE>K|POLR2B_ENST00000314595.5_In_Frame_Del_p.876_877NE>K			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	876					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTGCCTGAAAATGAAGATGAATT	0.443																																					p.876_877del		.											.	POLR2B-92	0			c.2627_2629del						.																																			SO:0001651	inframe_deletion	5431	exon19			CTGAAAATGAAGA		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2627_2629delATG	4.37:g.57889607_57889609delATG	ENSP00000370625:p.Asn876_Glu877delinsLys	155	0		146	63	NM_000938	0	0	0	0	0	A8K1A8|Q8IZ61	In_Frame_Del	DEL	ENST00000381227.1	37	CCDS3511.1																																																																																			.		0.443	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
LPHN3	23284	ucsc.edu;bcgsc.ca	37	4	62910175	62910175	+	Missense_Mutation	SNP	G	G	T	rs143689172	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:62910175G>T	ENST00000514591.1	+	24	3847	c.3518G>T	c.(3517-3519)cGa>cTa	p.R1173L	LPHN3_ENST00000508693.1_Missense_Mutation_p.R1241L|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1241L|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1232L|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1232L|LPHN3_ENST00000512091.2_Missense_Mutation_p.R1173L|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1164L|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1232L|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1173L|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1232L|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1241L|LPHN3_ENST00000545650.1_Missense_Mutation_p.R1173L|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1173L|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1164L|LPHN3_ENST00000506700.1_Missense_Mutation_p.R1164L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1151					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCCAGAGCCGAATCCGTAGA	0.403																																					p.R1173L		.											.	LPHN3-508	0			c.G3518T						.						53.0	51.0	52.0					4																	62910175		1909	4122	6031	SO:0001583	missense	23284	exon22			AGAGCCGAATCCG	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3518G>T	4.37:g.62910175G>T	ENSP00000422533:p.Arg1173Leu	451	3		332	130	NM_015236	0	0	0	0	0	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839274	0.71373	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.74106	-0.59;-0.62;-0.62;-0.61;-0.59;-0.62;-0.67;-0.67;-0.62;-0.64;-0.65;-0.78;-0.81;-0.79;-0.77	6.08	6.08	0.98989	GPCR, family 2, latrophilin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86377	0.5918	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.997;0.994	D	0.86070	0.1537	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1173;1151;1173	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	L	1173;1173;1241;1232;1164;1173;1151;1173;1232;1241;1232;1164;1173;1173;1241;1232;1164	ENSP00000423388:R1173L;ENSP00000422533:R1173L;ENSP00000423787:R1241L;ENSP00000425033:R1232L;ENSP00000424120:R1164L;ENSP00000439831:R1173L;ENSP00000421476:R1232L;ENSP00000424030:R1241L;ENSP00000421372:R1232L;ENSP00000425201:R1164L;ENSP00000423434:R1173L;ENSP00000421627:R1173L;ENSP00000420931:R1241L;ENSP00000425884:R1232L;ENSP00000424258:R1164L	ENSP00000280009:R1173L	R	+	2	0	LPHN3	62592770	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CGA	G|0.999;A|0.000		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
TECRL	253017	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	65180421	65180421	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:65180421G>T	ENST00000381210.3	-	5	606	c.496C>A	c.(496-498)Cca>Aca	p.P166T	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.P166T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	166					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TATATACATGGGATCCTCAAA	0.383																																					p.P166T		.											.	TECRL-90	0			c.C496A						.						116.0	112.0	113.0					4																	65180421		2203	4300	6503	SO:0001583	missense	253017	exon5			TACATGGGATCCT	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.496C>A	4.37:g.65180421G>T	ENSP00000370607:p.Pro166Thr	365	1		302	124	NM_001010874	0	0	0	0	0		Missense_Mutation	SNP	ENST00000381210.3	37	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	1.940	-0.443849	0.04604	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.41758	0.99;0.99	5.7	-0.73	0.11154	.	0.431488	0.24635	N	0.036842	T	0.19127	0.0459	N	0.20845	0.615	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.06826	-1.0805	10	0.41790	T	0.15	-0.141	0.3638	0.00368	0.344:0.2596:0.1876:0.2088	.	166;166	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	T	166	ENSP00000426043:P166T;ENSP00000370607:P166T	ENSP00000370607:P166T	P	-	1	0	TECRL	64863016	0.373000	0.25073	0.021000	0.16686	0.032000	0.12392	0.490000	0.22403	0.179000	0.19938	-0.216000	0.12614	CCA	.		0.383	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874	
EPHA5	2044	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	66201818	66201818	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:66201818T>C	ENST00000273854.3	-	16	3284	c.2684A>G	c.(2683-2685)tAt>tGt	p.Y895C	EPHA5_ENST00000511294.1_Missense_Mutation_p.Y896C|EPHA5_ENST00000354839.4_Missense_Mutation_p.Y873C|EPHA5_ENST00000432638.2_Missense_Mutation_p.Y732C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	895	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGCAGACGATAGCCTTCCTC	0.438										TSP Lung(17;0.13)																											p.Y895C		.											.	EPHA5-1430	0			c.A2684G						.						92.0	78.0	83.0					4																	66201818		2203	4299	6502	SO:0001583	missense	2044	exon16			AGACGATAGCCTT	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2684A>G	4.37:g.66201818T>C	ENSP00000273854:p.Tyr895Cys	133	1		105	42	NM_004439	0	0	0	0	0	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699470	0.88830	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000056	D	0.92011	0.7469	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.93104	0.6511	10	0.87932	D	0	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	874;896;873;895	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	C	895;732;873;896	ENSP00000273854:Y895C;ENSP00000389208:Y732C;ENSP00000346899:Y873C;ENSP00000427638:Y896C	ENSP00000273854:Y895C	Y	-	2	0	EPHA5	65884413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	TAT	.		0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
EPHA5	2044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	66467370	66467370	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:66467370C>A	ENST00000273854.3	-	3	1499	c.899G>T	c.(898-900)gGc>gTc	p.G300V	EPHA5_ENST00000511294.1_Missense_Mutation_p.G300V|EPHA5_ENST00000354839.4_Missense_Mutation_p.G300V|EPHA5_ENST00000432638.2_Missense_Mutation_p.G300V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	300	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTGACAGGTGCCATTTTTCTC	0.498										TSP Lung(17;0.13)																											p.G300V		.											.	EPHA5-1430	0			c.G899T						.						100.0	107.0	105.0					4																	66467370		2203	4300	6503	SO:0001583	missense	2044	exon3			CAGGTGCCATTTT	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.899G>T	4.37:g.66467370C>A	ENSP00000273854:p.Gly300Val	60	0		67	30	NM_004439	0	0	0	0	0	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731385	0.48939	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;D	0.97256	1.51;-0.86;1.51;-4.31	5.84	5.84	0.93424	.	0.229590	0.32533	N	0.005974	D	0.94601	0.8260	L	0.41824	1.3	0.58432	D	0.999995	B;B;B;P	0.40578	0.001;0.0;0.002;0.722	B;B;B;B	0.43809	0.004;0.004;0.008;0.432	D	0.92658	0.6139	10	0.48119	T	0.1	.	7.6461	0.28321	0.0:0.808:0.0:0.192	.	300;300;300;300	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	V	300	ENSP00000273854:G300V;ENSP00000389208:G300V;ENSP00000346899:G300V;ENSP00000427638:G300V	ENSP00000273854:G300V	G	-	2	0	EPHA5	66149965	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.527000	0.53517	2.779000	0.95612	0.655000	0.94253	GGC	.		0.498	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
UBA6	55236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	68492095	68492095	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:68492095G>A	ENST00000322244.5	-	28	2560	c.2501C>T	c.(2500-2502)tCt>tTt	p.S834F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	834					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GGCTTCATTAGATAAAATAGC	0.338																																					p.S834F		.											.	UBA6-90	0			c.C2501T						.						93.0	92.0	92.0					4																	68492095		2203	4297	6500	SO:0001583	missense	55236	exon28			TCATTAGATAAAA	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2501C>T	4.37:g.68492095G>A	ENSP00000313454:p.Ser834Phe	32	0		29	6	NM_018227	0	0	0	0	0	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499943	0.44455	.	.	ENSG00000033178	ENST00000322244	T	0.44881	0.91	4.89	4.89	0.63831	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.303615	0.36932	N	0.002337	T	0.32436	0.0829	L	0.29908	0.895	0.80722	D	1	B	0.14438	0.01	B	0.09377	0.004	T	0.12604	-1.0541	10	0.59425	D	0.04	-12.5156	13.068	0.59045	0.0:0.0:0.8392:0.1608	.	834	A0AVT1	UBA6_HUMAN	F	834	ENSP00000313454:S834F	ENSP00000313454:S834F	S	-	2	0	UBA6	68174690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.330000	0.72925	2.263000	0.75096	0.591000	0.81541	TCT	.		0.338	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	
TMPRSS11E	28983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	69343119	69343119	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:69343119T>A	ENST00000305363.4	+	8	804	c.740T>A	c.(739-741)tTt>tAt	p.F247Y		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	247	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACTGCTTCCTTTGGAGTAACA	0.343																																					p.F247Y		.											.	TMPRSS11E-70	0			c.T740A						.						133.0	146.0	141.0					4																	69343119		2203	4296	6499	SO:0001583	missense	28983	exon8			CTTCCTTTGGAGT	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.740T>A	4.37:g.69343119T>A	ENSP00000307519:p.Phe247Tyr	193	0		199	80	NM_014058	0	0	0	0	0	A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501742	0.85176	.	.	ENSG00000087128	ENST00000305363	D	0.88818	-2.43	5.16	5.16	0.70880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000198	D	0.89399	0.6704	L	0.38953	1.18	0.36745	D	0.882452	D	0.56968	0.978	P	0.56788	0.806	D	0.92247	0.5805	10	0.72032	D	0.01	.	12.9438	0.58362	0.0:0.0:0.0:1.0	.	247	Q9UL52	TM11E_HUMAN	Y	247	ENSP00000307519:F247Y	ENSP00000307519:F247Y	F	+	2	0	TMPRSS11E	69025714	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.556000	0.67307	1.941000	0.56285	0.477000	0.44152	TTT	.		0.343	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058	
UGT2A3	79799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	69795545	69795545	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:69795545C>G	ENST00000251566.4	-	6	1600	c.1570G>C	c.(1570-1572)Gaa>Caa	p.E524Q	UGT2A3_ENST00000420231.2_Missense_Mutation_p.E235Q	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	524					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCCTCTTTTCTATCTTTCTA	0.348																																					p.E524Q		.											.	UGT2A3-92	0			c.G1570C						.						31.0	34.0	33.0					4																	69795545		2202	4295	6497	SO:0001583	missense	79799	exon6			TCTTTTCTATCTT		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1570G>C	4.37:g.69795545C>G	ENSP00000251566:p.Glu524Gln	87	0		57	25	NM_024743	0	0	0	0	0	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	5.158	0.214810	0.09810	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.81247	0.23;-1.47	2.05	-4.11	0.03928	.	0.445863	0.23780	N	0.044637	T	0.39989	0.1099	N	0.00436	-1.5	0.09310	N	1	B	0.13145	0.007	B	0.17722	0.019	T	0.48375	-0.9041	10	0.34782	T	0.22	.	3.98	0.09490	0.0:0.2824:0.1906:0.527	.	524	Q6UWM9	UD2A3_HUMAN	Q	524;235	ENSP00000251566:E524Q;ENSP00000440115:E235Q	ENSP00000251566:E524Q	E	-	1	0	UGT2A3	69830134	0.023000	0.18921	0.002000	0.10522	0.224000	0.24922	0.319000	0.19522	-0.950000	0.03659	0.313000	0.20887	GAA	.		0.348	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
HTN1	3346	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	70920167	70920167	+	Splice_Site	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:70920167T>C	ENST00000511674.1	+	4	173	c.102T>C	c.(100-102)caT>caC	p.H34H	HTN1_ENST00000246896.3_Splice_Site_p.H34H			P15515	HIS1_HUMAN	histatin 1	34					biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						GAAAATTCCATGTAAGTGTTC	0.259																																					p.H34H		.											.	HTN1-91	0			c.T102C						.						48.0	51.0	50.0					4																	70920167		2183	4277	6460	SO:0001630	splice_region_variant	3346	exon4			ATTCCATGTAAGT		CCDS3534.1	4q13	2008-02-05			ENSG00000126550	ENSG00000126550			5283	protein-coding gene	gene with protein product		142701					Standard	NM_002159		Approved	HIS1	uc003hex.3	P15515	OTTHUMG00000129397	ENST00000511674.1:c.102+1T>C	4.37:g.70920167T>C		142	0		108	18	NM_002159	0	0	0	0	0		Silent	SNP	ENST00000511674.1	37	CCDS3534.1																																																																																			.		0.259	HTN1-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362220.2		Silent
MUC7	4589	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	71346966	71346966	+	Missense_Mutation	SNP	C	C	A	rs41413151	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:71346966C>A	ENST00000304887.5	+	3	695	c.505C>A	c.(505-507)Cca>Aca	p.P169T	MUC7_ENST00000413702.1_Missense_Mutation_p.P169T|MUC7_ENST00000456088.1_Missense_Mutation_p.P169T|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	169	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CACAGCTGCCCCACCCACACC	0.527													C|||	70	0.0139776	0.0522	0.0014	5008	,	,		22551	0.0		0.0	False		,,,				2504	0.0				p.P169T		.											.	MUC7-93	0			c.C505A						.	C	THR/PRO,THR/PRO,THR/PRO	171,4235	112.5+/-150.6	1,169,2033	316.0	268.0	284.0		505,505,505	-3.5	0.0	4	dbSNP_127	284	0,8600		0,0,4300	yes	missense,missense,missense	MUC7	NM_152291.2,NM_001145007.1,NM_001145006.1	38,38,38	1,169,6333	AA,AC,CC		0.0,3.8811,1.3148	benign,benign,benign	169/378,169/378,169/378	71346966	171,12835	2203	4300	6503	SO:0001583	missense	4589	exon4			GCTGCCCCACCCA	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.505C>A	4.37:g.71346966C>A	ENSP00000302021:p.Pro169Thr	276	1		254	126	NM_001145007	0	0	0	0	0	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	25	0.011446886446886446	24	0.04878048780487805	1	0.0027624309392265192	0	0.0	0	0.0	C	3.354	-0.131927	0.06753	0.038811	0.0	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.62941	-0.01;-0.01;-0.01	2.62	-3.5	0.04710	.	.	.	.	.	T	0.08447	0.0210	L	0.27053	0.805	0.09310	N	1	B	0.20988	0.05	B	0.20184	0.028	T	0.08027	-1.0742	8	.	.	.	-0.1422	3.0285	0.06098	0.5695:0.1812:0.1414:0.108	rs41413151	169	Q8TAX7	MUC7_HUMAN	T	169	ENSP00000407422:P169T;ENSP00000400585:P169T;ENSP00000302021:P169T	.	P	+	1	0	MUC7	71381555	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.021000	0.12504	-1.012000	0.03387	-1.014000	0.02459	CCA	C|0.987;A|0.013		0.527	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291	
GC	2638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	72622606	72622606	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:72622606C>T	ENST00000273951.8	-	8	1200	c.857G>A	c.(856-858)tGt>tAt	p.C286Y	GC_ENST00000503472.1_5'UTR|RNA5SP163_ENST00000410304.1_RNA|GC_ENST00000513476.1_Missense_Mutation_p.C286Y|GC_ENST00000504199.1_Missense_Mutation_p.C305Y	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	286	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TAAATTGTCACAGAGTTTTAC	0.363																																					p.C305Y		.											.	GC-93	0			c.G914A						.						60.0	61.0	61.0					4																	72622606		2203	4300	6503	SO:0001583	missense	2638	exon9			TTGTCACAGAGTT	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.857G>A	4.37:g.72622606C>T	ENSP00000273951:p.Cys286Tyr	40	0		34	16	NM_001204307	0	0	0	0	0	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611648	0.46631	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	D;D;D	0.99901	-7.65;-7.65;-7.65	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96415	0.9307	10	0.87932	D	0	.	17.5711	0.87934	0.0:1.0:0.0:0.0	.	305;286	D6RAK8;D6RF35	.;.	Y	286;305;286	ENSP00000273951:C286Y;ENSP00000421725:C305Y;ENSP00000426683:C286Y	ENSP00000273951:C286Y	C	-	2	0	GC	72841470	0.996000	0.38824	0.997000	0.53966	0.087000	0.18053	4.359000	0.59449	2.767000	0.95098	0.655000	0.94253	TGT	.		0.363	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2		
CCDC158	339965	hgsc.bcm.edu;bcgsc.ca	37	4	77244563	77244563	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:77244563C>A	ENST00000388914.3	-	23	3310		c.e23-1			NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158									p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GACTGTGAATCTATTAGAAAA	0.323																																					.		.											.	CCDC158-96	1	Unknown(1)	large_intestine(1)	c.3158-1G>T						.						188.0	165.0	172.0					4																	77244563		1798	4073	5871	SO:0001630	splice_region_variant	339965	exon24			GTGAATCTATTAG	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.3158-1G>T	4.37:g.77244563C>A		47	0		40	9	NM_001042784	0	0	0	0	0	Q8IYQ1|Q8N7D4|Q8N7E3	Splice_Site	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702267	0.68501	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4725	0.67526	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC158	77463587	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.552000	0.53705	2.878000	0.98634	0.650000	0.86243	.	.		0.323	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	Intron
SOWAHB	345079	hgsc.bcm.edu	37	4	77818202	77818202	+	Silent	SNP	T	T	C	rs2645674	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	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		16	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	
CNOT6L	246175	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	78641630	78641630	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:78641630T>C	ENST00000504123.1	-	12	1753	c.1623A>G	c.(1621-1623)ccA>ccG	p.P541P	CNOT6L_ENST00000264903.4_Silent_p.P541P			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	541	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GAGGCAGGAGTGGAGGGTGGA	0.512																																					p.P541P		.											.	CNOT6L-67	0			c.A1623G						.						121.0	120.0	120.0					4																	78641630		1925	4124	6049	SO:0001819	synonymous_variant	246175	exon12			CAGGAGTGGAGGG	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1623A>G	4.37:g.78641630T>C		816	1		754	181	NM_144571	0	0	0	0	0	Q9UF92	Silent	SNP	ENST00000504123.1	37																																																																																				.		0.512	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1		
FGF5	2250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	81207738	81207738	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:81207738C>A	ENST00000312465.7	+	3	945	c.719C>A	c.(718-720)cCt>cAt	p.P240H	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	240					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AAAAAGCCACCTAGCCCTATC	0.438																																					p.P240H		.											.	FGF5-1135	0			c.C719A						.						73.0	72.0	72.0					4																	81207738		2203	4300	6503	SO:0001583	missense	2250	exon3			AGCCACCTAGCCC	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.719C>A	4.37:g.81207738C>A	ENSP00000311697:p.Pro240His	106	0		102	20	NM_004464	0	0	0	0	0	B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	c	13.13	2.146312	0.37923	.	.	ENSG00000138675	ENST00000312465	T	0.76968	-1.06	5.6	3.88	0.44766	.	0.387744	0.31233	N	0.008011	T	0.79197	0.4405	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.79222	-0.1892	10	0.87932	D	0	.	9.9775	0.41793	0.0:0.6676:0.2639:0.0684	.	240	P12034	FGF5_HUMAN	H	240	ENSP00000311697:P240H	ENSP00000311697:P240H	P	+	2	0	FGF5	81426762	0.272000	0.24172	0.339000	0.25562	0.129000	0.20672	1.979000	0.40608	0.736000	0.32559	-0.121000	0.15023	CCT	.		0.438	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2		
PRKG2	5593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	82090866	82090866	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:82090866T>A	ENST00000395578.1	-	5	915	c.799A>T	c.(799-801)Agg>Tgg	p.R267W	PRKG2_ENST00000264399.1_Missense_Mutation_p.R267W|PRKG2_ENST00000418486.2_Missense_Mutation_p.R267W|RP11-100N20.1_ENST00000512502.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	267					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GCTGTCCTCCTCATTATATTC	0.368																																					p.R267W		.											.	PRKG2-524	0			c.A799T						.						180.0	164.0	170.0					4																	82090866		2203	4299	6502	SO:0001583	missense	5593	exon4			TCCTCCTCATTAT	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.799A>T	4.37:g.82090866T>A	ENSP00000378945:p.Arg267Trp	43	0		52	12	NM_006259	0	0	0	0	0	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224335	0.79576	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.93189	-3.18;-3.18;-3.18	6.07	3.49	0.39957	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.198819	0.50627	D	0.000117	D	0.96337	0.8805	M	0.86502	2.82	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.65140	0.932;0.932	D	0.96230	0.9167	10	0.59425	D	0.04	-28.0176	12.5172	0.56038	0.0:0.0:0.263:0.737	.	267;267	E7EPE6;Q13237	.;KGP2_HUMAN	W	267	ENSP00000378945:R267W;ENSP00000264399:R267W;ENSP00000389038:R267W	ENSP00000264399:R267W	R	-	1	2	PRKG2	82309890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.526000	0.53509	1.093000	0.41377	0.533000	0.62120	AGG	.		0.368	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
PRKG2	5593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	82125944	82125944	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:82125944C>A	ENST00000395578.1	-	2	374	c.258G>T	c.(256-258)gtG>gtT	p.V86V	PRKG2_ENST00000264399.1_Silent_p.V86V|PRKG2_ENST00000418486.2_Silent_p.V86V			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	86					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CCTGCATATGCACCACATCCT	0.567																																					p.V86V		.											.	PRKG2-524	0			c.G258T						.						112.0	115.0	114.0					4																	82125944		2203	4300	6503	SO:0001819	synonymous_variant	5593	exon1			CATATGCACCACA	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.258G>T	4.37:g.82125944C>A		143	0		137	55	NM_006259	0	0	0	0	0	B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	CCDS3589.1																																																																																			.		0.567	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
SEC31A	22872	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	83785613	83785613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:83785613G>A	ENST00000395310.2	-	11	1518	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	SEC31A_ENST00000505472.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.Q441*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.Q218*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.Q446*	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	446	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACAGCCTGCTGAAGTTGGTCT	0.438																																					p.Q446X		.											.	SEC31A-268	0			c.C1336T						.						134.0	130.0	131.0					4																	83785613		2203	4300	6503	SO:0001587	stop_gained	22872	exon11			CCTGCTGAAGTTG	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1336C>T	4.37:g.83785613G>A	ENSP00000378721:p.Gln446*	109	2		121	59	NM_001077206	0	0	0	0	0	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	ENST00000395310.2	37	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.434647|7.434647	0.98282|0.98282	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75975	.|0.3923	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74825	.|-0.3533	.|3	0.48119|.	T|.	0.1|.	-9.3051|-9.3051	19.1353|19.1353	0.93426|0.93426	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	446;446;446;441;446;446;446;446;446;446;446;446;446;218;446;446;47|88	.|.	ENSP00000264405:Q218X|.	Q|S	-|-	1|2	0|0	SEC31A|SEC31A	84004637|84004637	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.432000|0.432000	0.31715|0.31715	9.847000|9.847000	0.99503|0.99503	2.507000|2.507000	0.84556|0.84556	0.650000|0.650000	0.86243|0.86243	CAG|TCA	.		0.438	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
WDFY3	23001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	85626662	85626662	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:85626662C>A	ENST00000295888.4	-	54	8627	c.8220G>T	c.(8218-8220)gaG>gaT	p.E2740D	WDFY3_ENST00000322366.6_Missense_Mutation_p.E2723D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2740	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAAGATCCACCTCCTAAAATA	0.378																																					p.E2740D		.											.	WDFY3-93	0			c.G8220T						.						143.0	128.0	133.0					4																	85626662		2203	4300	6503	SO:0001583	missense	23001	exon54			ATCCACCTCCTAA	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8220G>T	4.37:g.85626662C>A	ENSP00000295888:p.Glu2740Asp	108	0		103	40	NM_014991	0	0	0	0	0	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709031	0.30322	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.80738	-1.41;-1.41;-1.41	5.64	0.932	0.19466	BEACH domain (4);	0.108145	0.64402	D	0.000002	T	0.72220	0.3433	L	0.45228	1.405	0.58432	D	0.999999	B	0.26363	0.147	B	0.30105	0.111	T	0.64922	-0.6293	10	0.44086	T	0.13	.	10.6851	0.45837	0.0:0.4571:0.0:0.5429	.	2740	Q8IZQ1	WDFY3_HUMAN	D	2723;2740;343	ENSP00000318466:E2723D;ENSP00000295888:E2740D;ENSP00000424987:E343D	ENSP00000295888:E2740D	E	-	3	2	WDFY3	85845686	0.982000	0.34865	0.983000	0.44433	0.620000	0.37586	0.185000	0.16958	0.179000	0.19938	-0.145000	0.13849	GAG	.		0.378	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
SLC10A6	345274	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	87744863	87744863	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:87744863C>A	ENST00000273905.6	-	6	1259	c.1112G>T	c.(1111-1113)gGc>gTc	p.G371V	SLC10A6_ENST00000505535.1_5'Flank	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	371					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AGTGATGTGGCCAACTGGCTC	0.537																																					p.G371V		.											.	SLC10A6-22	0			c.G1112T						.						102.0	86.0	92.0					4																	87744863		2203	4300	6503	SO:0001583	missense	345274	exon6			ATGTGGCCAACTG	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.1112G>T	4.37:g.87744863C>A	ENSP00000273905:p.Gly371Val	132	1		124	27	NM_197965	0	0	0	0	0	Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302289	0.23736	.	.	ENSG00000145283	ENST00000273905	T	0.07800	3.16	4.19	0.112	0.14623	.	2.656580	0.01482	N	0.016715	T	0.06508	0.0167	N	0.22421	0.69	0.09310	N	1	B	0.34015	0.435	B	0.27170	0.077	T	0.33085	-0.9882	10	0.66056	D	0.02	-0.5819	6.0859	0.19966	0.0:0.4745:0.0:0.5255	.	371	Q3KNW5	SOAT_HUMAN	V	371	ENSP00000273905:G371V	ENSP00000273905:G371V	G	-	2	0	SLC10A6	87963887	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.191000	0.09601	0.074000	0.16767	-0.236000	0.12185	GGC	.		0.537	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965	
SLC10A6	345274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	87769948	87769948	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:87769948C>A	ENST00000273905.6	-	1	468	c.321G>T	c.(319-321)ccG>ccT	p.P107P	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	107					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TGGTGCCCCCCGGGCAGCAGC	0.507																																					p.P107P		.											.	SLC10A6-22	0			c.G321T						.						68.0	73.0	71.0					4																	87769948		2203	4300	6503	SO:0001819	synonymous_variant	345274	exon1			GCCCCCCGGGCAG	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.321G>T	4.37:g.87769948C>A		145	0		176	82	NM_197965	0	0	0	0	0	Q70EX7	Silent	SNP	ENST00000273905.6	37	CCDS3614.1																																																																																			.		0.507	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965	
HERC3	8916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	89607931	89607931	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:89607931A>C	ENST00000402738.1	+	22	2791	c.2552A>C	c.(2551-2553)gAg>gCg	p.E851A	HERC3_ENST00000264345.3_Missense_Mutation_p.E851A|RNU6-33P_ENST00000384793.1_RNA|HERC3_ENST00000543130.1_Missense_Mutation_p.E295A	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	851					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GATGTGGAGGAGACTTTCTGC	0.418																																					p.E851A		.											.	HERC3-660	0			c.A2552C						.						121.0	110.0	114.0					4																	89607931		2203	4300	6503	SO:0001583	missense	8916	exon22			TGGAGGAGACTTT	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2552A>C	4.37:g.89607931A>C	ENSP00000385684:p.Glu851Ala	115	0		112	34	NM_014606	0	0	0	0	0	A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171908	0.78452	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130;ENST00000512194	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.98	4.98	0.66077	HECT (4);	0.219864	0.46442	D	0.000300	T	0.70369	0.3216	M	0.70108	2.13	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	T	0.74210	-0.3739	10	0.66056	D	0.02	.	14.8428	0.70237	1.0:0.0:0.0:0.0	.	851	Q15034	HERC3_HUMAN	A	851;851;295;244	ENSP00000385684:E851A;ENSP00000264345:E851A;ENSP00000441703:E295A;ENSP00000421021:E244A	ENSP00000264345:E851A	E	+	2	0	HERC3	89826954	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.050000	0.76620	2.086000	0.62901	0.533000	0.62120	GAG	.		0.418	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606	
MMRN1	22915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	90857026	90857026	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:90857026T>G	ENST00000394980.1	+	7	2514	c.2195T>G	c.(2194-2196)aTg>aGg	p.M732R	MMRN1_ENST00000508372.1_Missense_Mutation_p.M474R|MMRN1_ENST00000264790.2_Missense_Mutation_p.M732R|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	732					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AATAAGACAATGACTATTATA	0.323																																					p.M732R		.											.	MMRN1-94	0			c.T2195G						.						66.0	68.0	67.0					4																	90857026		2203	4298	6501	SO:0001583	missense	22915	exon6			AGACAATGACTAT	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2195T>G	4.37:g.90857026T>G	ENSP00000378431:p.Met732Arg	184	0		130	35	NM_007351	0	0	0	0	0	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.097514	0.37048	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.69926	-0.1;-0.1;-0.44	5.2	5.2	0.72013	.	0.178527	0.49916	D	0.000127	T	0.66944	0.2841	L	0.55481	1.735	0.80722	D	1	P	0.49961	0.93	P	0.45037	0.467	T	0.72472	-0.4283	10	0.72032	D	0.01	.	15.7803	0.78255	0.0:0.0:0.0:1.0	.	732	Q13201	MMRN1_HUMAN	R	732;732;474	ENSP00000378431:M732R;ENSP00000264790:M732R;ENSP00000426461:M474R	ENSP00000264790:M732R	M	+	2	0	MMRN1	91076049	1.000000	0.71417	0.955000	0.39395	0.794000	0.44872	3.605000	0.54088	2.263000	0.75096	0.533000	0.62120	ATG	.		0.323	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
MMRN1	22915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	90857213	90857213	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:90857213G>T	ENST00000394980.1	+	7	2701	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	MMRN1_ENST00000508372.1_Missense_Mutation_p.Q536H|MMRN1_ENST00000264790.2_Missense_Mutation_p.Q794H|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	794					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGACAATCAGAGATATAACT	0.373																																					p.Q794H		.											.	MMRN1-94	0			c.G2382T						.						52.0	52.0	52.0					4																	90857213		2203	4298	6501	SO:0001583	missense	22915	exon6			CAATCAGAGATAT	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2382G>T	4.37:g.90857213G>T	ENSP00000378431:p.Gln794His	69	0		50	18	NM_007351	0	0	0	0	0	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202703	0.22121	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.66460	0.13;0.13;-0.21	4.97	3.24	0.37175	.	0.890676	0.09755	N	0.760042	T	0.58750	0.2144	L	0.56769	1.78	0.80722	D	1	B	0.28760	0.221	B	0.22386	0.039	T	0.46965	-0.9153	10	0.25106	T	0.35	.	7.7764	0.29039	0.1499:0.1349:0.7151:0.0	.	794	Q13201	MMRN1_HUMAN	H	794;794;536	ENSP00000378431:Q794H;ENSP00000264790:Q794H;ENSP00000426461:Q536H	ENSP00000264790:Q794H	Q	+	3	2	MMRN1	91076236	0.989000	0.36119	0.687000	0.30102	0.370000	0.29829	1.129000	0.31381	0.765000	0.33221	0.650000	0.86243	CAG	.		0.373	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
ATOH1	474	hgsc.bcm.edu;bcgsc.ca	37	4	94750174	94750174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:94750174delC	ENST00000306011.3	+	1	133	c.97delC	c.(97-99)ccgfs	p.P35fs		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	35	Poly-Pro.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GCAACCGCCGCCGCCGCCGCA	0.667																																					p.P33fs		.											.	ATOH1-90	0			c.97delC						.						22.0	25.0	24.0					4																	94750174		2180	4281	6461	SO:0001589	frameshift_variant	474	exon1			CCGCCGCCGCCGC	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.97delC	4.37:g.94750174delC	ENSP00000302216:p.Pro35fs	300	1		427	110	NM_005172	0	0	0	0	0	Q14CT9	Frame_Shift_Del	DEL	ENST00000306011.3	37	CCDS3638.1																																																																																			.		0.667	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172	
PDLIM5	10611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	95497186	95497186	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:95497186G>T	ENST00000317968.4	+	5	846		c.e5+1		PDLIM5_ENST00000450793.1_Splice_Site|PDLIM5_ENST00000542407.1_Splice_Site|PDLIM5_ENST00000437932.1_Splice_Site|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000514743.1_Splice_Site|PDLIM5_ENST00000508216.1_Splice_Site|PDLIM5_ENST00000380180.3_Splice_Site	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5						regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AGCAAAATGGGTAGGTGGCTA	0.483																																					.		.											.	PDLIM5-117	0			c.710+1G>T						.						48.0	51.0	50.0					4																	95497186		2203	4300	6503	SO:0001630	splice_region_variant	10611	exon5			AAATGGGTAGGTG	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.710+1G>T	4.37:g.95497186G>T		179	0		172	59	NM_006457	0	0	0	0	0	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Splice_Site	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190084	0.78789	.	.	ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000450793;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000508216;ENST00000514743;ENST00000513341	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2114	0.93757	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDLIM5	95716209	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.254000	0.89844	2.532000	0.85374	0.650000	0.86243	.	.		0.483	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1		Intron
BMPR1B	658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	96075737	96075737	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:96075737G>T	ENST00000515059.1	+	13	1705	c.1422G>T	c.(1420-1422)tgG>tgT	p.W474C	BMPR1B_ENST00000394931.1_Missense_Mutation_p.W474C|BMPR1B_ENST00000440890.2_Missense_Mutation_p.W504C|BMPR1B_ENST00000264568.4_Missense_Mutation_p.W474C	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	474	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CAGAATGCTGGGCTCACAATC	0.448																																					p.W504C		.											.	BMPR1B-1378	0			c.G1512T						.						84.0	85.0	85.0					4																	96075737		2203	4300	6503	SO:0001583	missense	658	exon11			ATGCTGGGCTCAC	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1422G>T	4.37:g.96075737G>T	ENSP00000426617:p.Trp474Cys	140	0		168	44	NM_001256793	0	0	0	0	0	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654115	0.88056	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85794	0.1369	10	0.87932	D	0	.	20.1294	0.97995	0.0:0.0:1.0:0.0	.	474	O00238	BMR1B_HUMAN	C	474;474;474;504;474;474	ENSP00000426617:W474C;ENSP00000425444:W474C;ENSP00000421671:W474C;ENSP00000401907:W504C;ENSP00000264568:W474C;ENSP00000378389:W474C	ENSP00000264568:W474C	W	+	3	0	BMPR1B	96294760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.460000	0.97641	2.758000	0.94735	0.591000	0.81541	TGG	.		0.448	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
ADH1B	125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	100235236	100235236	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:100235236G>A	ENST00000305046.8	-	6	637	c.570C>T	c.(568-570)gtC>gtT	p.V190V	ADH1B_ENST00000394887.3_Silent_p.V150V			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	190				V -> VV (in Ref. 8; CAA33487). {ECO:0000305}.	ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGCCTGGGGTGACCTGTGTTT	0.473																																					p.V190V		.											.	ADH1B-136	0			c.C570T						.						90.0	98.0	95.0					4																	100235236		2203	4300	6503	SO:0001819	synonymous_variant	125	exon6			TGGGGTGACCTGT	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.570C>T	4.37:g.100235236G>A		186	0		155	72	NM_000668	0	0	0	0	0	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																			.		0.473	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
ADH1B	125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	100237112	100237112	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:100237112G>T	ENST00000305046.8	-	5	577	c.510C>A	c.(508-510)gtC>gtA	p.V170V	ADH1B_ENST00000394887.3_Silent_p.V130V|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	170					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CAATGAGGCAGACTTTCTCCA	0.512																																					p.V170V		.											.	ADH1B-136	0			c.C510A						.						139.0	131.0	134.0					4																	100237112		2203	4300	6503	SO:0001819	synonymous_variant	125	exon5			GAGGCAGACTTTC	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.510C>A	4.37:g.100237112G>T		276	0		262	72	NM_000668	0	0	0	0	0	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																			.		0.512	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
NFKB1	4790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	103537720	103537720	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:103537720G>T	ENST00000505458.1	+	24	3153	c.2876G>T	c.(2875-2877)gGg>gTg	p.G959V	NFKB1_ENST00000600343.1_Missense_Mutation_p.G779V|NFKB1_ENST00000226574.4_Missense_Mutation_p.G960V|NFKB1_ENST00000394820.4_Missense_Mutation_p.G959V			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	959	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|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 calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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 from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CATGATTATGGGCAGGAAGGA	0.498																																					p.G960V		.											.	NFKB1-912	0			c.G2879T						.						79.0	74.0	76.0					4																	103537720		2203	4300	6503	SO:0001583	missense	4790	exon24			ATTATGGGCAGGA	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2876G>T	4.37:g.103537720G>T	ENSP00000424790:p.Gly959Val	97	0		86	52	NM_003998	0	0	0	0	0	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793646	0.31685	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.44083	0.94;0.93;0.93	4.79	3.94	0.45596	.	0.502354	0.18499	N	0.139410	T	0.33177	0.0854	L	0.27053	0.805	0.54753	D	0.999989	B;B;P	0.35575	0.376;0.191;0.51	B;B;B	0.37091	0.122;0.122;0.241	T	0.24905	-1.0147	10	0.72032	D	0.01	-3.8694	12.8583	0.57899	0.0:0.0:0.8369:0.1631	.	779;959;960	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	V	960;959;959	ENSP00000226574:G960V;ENSP00000378297:G959V;ENSP00000424790:G959V	ENSP00000226574:G960V	G	+	2	0	NFKB1	103756766	1.000000	0.71417	0.896000	0.35187	0.434000	0.31775	2.413000	0.44618	1.225000	0.43566	0.563000	0.77884	GGG	.		0.498	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		
MANBA	4126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	103557078	103557078	+	Missense_Mutation	SNP	T	T	C	rs113843904		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:103557078T>C	ENST00000226578.4	-	15	2200	c.2101A>G	c.(2101-2103)Acg>Gcg	p.T701A	MANBA_ENST00000505239.1_Missense_Mutation_p.T644A	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	701			T -> M (in dbSNP:rs2866413). {ECO:0000269|PubMed:15489334}.		cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ATATAGAACGTGTTTTCATTC	0.378																																					p.T701A		.											.	MANBA-91	0			c.A2101G						.						100.0	96.0	97.0					4																	103557078		2203	4300	6503	SO:0001583	missense	4126	exon15			AGAACGTGTTTTC		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.2101A>G	4.37:g.103557078T>C	ENSP00000226578:p.Thr701Ala	159	0		135	28	NM_005908	0	0	0	0	0	Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	T	3.329	-0.136998	0.06711	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.56776	0.44;0.44	5.42	0.553	0.17235	.	0.610170	0.17652	N	0.166653	T	0.22322	0.0538	N	0.04297	-0.235	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.23691	-1.0181	10	0.08837	T	0.75	-0.6633	6.7677	0.23576	0.0:0.5602:0.1113:0.3285	.	644;701	E9PFW2;O00462	.;MANBA_HUMAN	A	701;644	ENSP00000226578:T701A;ENSP00000427322:T644A	ENSP00000226578:T701A	T	-	1	0	MANBA	103776126	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.250000	0.18235	-0.206000	0.10203	-0.177000	0.13119	ACG	T|0.500;C|0.500		0.378	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2		
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	104032111	104032111	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:104032111C>A	ENST00000265148.3	-	47	7687	c.7598G>T	c.(7597-7599)gGc>gTc	p.G2533V	CENPE_ENST00000380026.3_Missense_Mutation_p.G2412V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2533	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AATGCCGCTGCCACCTCCACA	0.343																																					p.G2533V		.											.	CENPE-277	0			c.G7598T						.						118.0	126.0	123.0					4																	104032111		2203	4300	6503	SO:0001583	missense	1062	exon47			CCGCTGCCACCTC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7598G>T	4.37:g.104032111C>A	ENSP00000265148:p.Gly2533Val	69	0		49	24	NM_001813	0	0	0	0	0	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375411	0.61735	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.79845	-1.31;-1.26	4.22	4.22	0.49857	.	.	.	.	.	D	0.86977	0.6063	M	0.63843	1.955	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87951	0.2723	9	0.87932	D	0	.	11.9836	0.53133	0.0:1.0:0.0:0.0	.	2412;2533	Q02224-3;Q02224	.;CENPE_HUMAN	V	2533;2412	ENSP00000265148:G2533V;ENSP00000369365:G2412V	ENSP00000265148:G2533V	G	-	2	0	CENPE	104251560	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	3.579000	0.53900	2.181000	0.69327	0.650000	0.86243	GGC	.		0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	104066245	104066245	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:104066245C>A	ENST00000265148.3	-	32	4908	c.4819G>T	c.(4819-4821)Gac>Tac	p.D1607Y	CENPE_ENST00000380026.3_Missense_Mutation_p.D1582Y	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1607					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCAGTTGGTCTCTCTCTATC	0.323																																					p.D1607Y		.											.	CENPE-277	0			c.G4819T						.						129.0	121.0	123.0					4																	104066245		2203	4300	6503	SO:0001583	missense	1062	exon32			GTTGGTCTCTCTC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4819G>T	4.37:g.104066245C>A	ENSP00000265148:p.Asp1607Tyr	37	0		33	13	NM_001813	0	0	0	0	0	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261872	0.39995	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72725	-0.68;-0.61	4.15	4.15	0.48705	.	.	.	.	.	T	0.80994	0.4731	M	0.68317	2.08	0.35644	D	0.811228	D;D	0.76494	0.998;0.999	D;D	0.67103	0.935;0.949	D	0.86683	0.1918	9	0.87932	D	0	.	13.4894	0.61386	0.0:1.0:0.0:0.0	.	1582;1607	Q02224-3;Q02224	.;CENPE_HUMAN	Y	1607;1607;1582	ENSP00000265148:D1607Y;ENSP00000369365:D1582Y	ENSP00000265148:D1607Y	D	-	1	0	CENPE	104285694	0.882000	0.30256	0.988000	0.46212	0.310000	0.27922	1.517000	0.35867	2.141000	0.66446	0.551000	0.68910	GAC	.		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	104080288	104080288	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:104080288A>T	ENST00000265148.3	-	22	2569	c.2480T>A	c.(2479-2481)aTg>aAg	p.M827K	CENPE_ENST00000380026.3_Missense_Mutation_p.M802K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	827					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTCAAAGTCCATATGAAGGGT	0.338																																					p.M827K		.											.	CENPE-277	0			c.T2480A						.						124.0	125.0	125.0					4																	104080288		2203	4300	6503	SO:0001583	missense	1062	exon22			AAGTCCATATGAA	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2480T>A	4.37:g.104080288A>T	ENSP00000265148:p.Met827Lys	95	0		61	30	NM_001813	0	0	0	0	0	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.895137	0.00522	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.76968	-1.06;-1.06;-1.06	5.03	-5.8	0.02347	.	.	.	.	.	T	0.44603	0.1301	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44298	-0.9337	9	0.07482	T	0.82	.	1.0298	0.01536	0.1939:0.136:0.2324:0.4377	.	802;827	Q02224-3;Q02224	.;CENPE_HUMAN	K	827;827;802;827	ENSP00000265148:M827K;ENSP00000369365:M802K;ENSP00000423981:M827K	ENSP00000265148:M827K	M	-	2	0	CENPE	104299737	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.213000	0.09305	-0.576000	0.05974	-0.309000	0.09137	ATG	.		0.338	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	104102532	104102532	+	Nonsense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:104102532T>A	ENST00000265148.3	-	12	1134	c.1045A>T	c.(1045-1047)Aga>Tga	p.R349*	CENPE_ENST00000509120.1_5'UTR|CENPE_ENST00000380026.3_Nonsense_Mutation_p.R349*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	349					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTCTTTTCTATACCTTTTC	0.308																																					p.R349X		.											.	CENPE-277	0			c.A1045T						.						64.0	64.0	64.0					4																	104102532		2200	4293	6493	SO:0001587	stop_gained	1062	exon12			CTTTTCTATACCT	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1045A>T	4.37:g.104102532T>A	ENSP00000265148:p.Arg349*	214	0		193	58	NM_001813	0	0	0	0	0	A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	37	6.344939	0.97494	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	.	.	.	4.83	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8916	0.46998	0.0:0.0:0.2582:0.7418	.	.	.	.	X	349	.	ENSP00000265148:R349X	R	-	1	2	CENPE	104321981	0.995000	0.38212	0.956000	0.39512	0.976000	0.68499	2.670000	0.46833	1.936000	0.56123	0.533000	0.62120	AGA	.		0.308	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
GSTCD	79807	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	106640417	106640417	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:106640417G>T	ENST00000515279.1	+	3	847	c.627G>T	c.(625-627)ggG>ggT	p.G209G	GSTCD_ENST00000394730.3_Silent_p.G122G|GSTCD_ENST00000360505.5_Silent_p.G209G|GSTCD_ENST00000394728.3_Silent_p.G209G|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Silent_p.G122G			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	209	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		ATGGAGTTGGGCCTCCCCTTA	0.468																																					p.G209G		.											.	GSTCD-92	0			c.G627T						.						105.0	112.0	110.0					4																	106640417		2203	4300	6503	SO:0001819	synonymous_variant	79807	exon3			AGTTGGGCCTCCC	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.627G>T	4.37:g.106640417G>T		114	2		94	38	NM_001031720	0	0	0	0	0	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Silent	SNP	ENST00000515279.1	37	CCDS43257.1																																																																																			.		0.468	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751	
DKK2	27123	ucsc.edu;bcgsc.ca	37	4	107845222	107845222	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:107845222A>T	ENST00000285311.3	-	4	1374	c.669T>A	c.(667-669)caT>caA	p.H223Q	DKK2_ENST00000513208.1_Missense_Mutation_p.H123Q|DKK2_ENST00000510463.1_Missense_Mutation_p.H177Q	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	223	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTTCCAGCCCATGAGAACCCT	0.502																																					p.H223Q		.											.	DKK2-661	0			c.T669A						.						165.0	151.0	156.0					4																	107845222		2203	4300	6503	SO:0001583	missense	27123	exon4			CAGCCCATGAGAA	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.669T>A	4.37:g.107845222A>T	ENSP00000285311:p.His223Gln	323	2		250	54	NM_014421	0	0	0	0	0	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276615	0.59758	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.46063	0.88;0.95;0.93	5.64	-10.1	0.00402	.	0.046820	0.85682	D	0.000000	T	0.28499	0.0705	L	0.37697	1.125	0.44352	D	0.997245	B	0.30482	0.281	B	0.27076	0.076	T	0.14839	-1.0458	10	0.52906	T	0.07	-14.7903	20.4311	0.99082	0.3628:0.0:0.6372:0.0	.	223	Q9UBU2	DKK2_HUMAN	Q	223;123;177	ENSP00000285311:H223Q;ENSP00000421255:H123Q;ENSP00000423797:H177Q	ENSP00000285311:H223Q	H	-	3	2	DKK2	108064671	0.047000	0.20315	0.312000	0.25196	0.992000	0.81027	-0.615000	0.05597	-2.176000	0.00770	-0.386000	0.06593	CAT	.		0.502	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
DKK2	27123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	107956686	107956686	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:107956686C>A	ENST00000285311.3	-	1	768	c.63G>T	c.(61-63)ctG>ctT	p.L21L	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	21					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCTCCACCATCAGCACCGCGG	0.647																																					p.L21L		.											.	DKK2-661	0			c.G63T						.						79.0	80.0	80.0					4																	107956686		2203	4300	6503	SO:0001819	synonymous_variant	27123	exon1			CACCATCAGCACC	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.63G>T	4.37:g.107956686C>A		140	0		121	47	NM_014421	0	0	0	0	0	A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	ENST00000285311.3	37	CCDS3675.1																																																																																			.		0.647	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
PITX2	5308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	111539439	111539439	+	Missense_Mutation	SNP	G	G	C	rs376861814		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:111539439G>C	ENST00000354925.2	-	7	2501	c.796C>G	c.(796-798)Ccg>Gcg	p.P266A	PITX2_ENST00000306732.3_Missense_Mutation_p.P273A|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000355080.5_Missense_Mutation_p.P220A|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000394598.2_Missense_Mutation_p.P266A	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	266					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GGAGTCGGCGGCGCGTAAGGA	0.597																																					p.P273A		.											.	PITX2-650	0			c.C817G						.						49.0	51.0	50.0					4																	111539439		2203	4300	6503	SO:0001583	missense	5308	exon3			TCGGCGGCGCGTA	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.796C>G	4.37:g.111539439G>C	ENSP00000347004:p.Pro266Ala	217	0		257	151	NM_000325	0	0	0	0	0	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464887	0.43839	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.92299	-2.77;-2.89;-3.01;-2.89;-3.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	L	0.42744	1.35	0.80722	D	1	B;D;P;P	0.67145	0.248;0.996;0.638;0.516	B;D;B;B	0.73708	0.146;0.981;0.206;0.281	D	0.90836	0.4720	10	0.15499	T	0.54	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	220;220;266;273	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	A	273;266;220;266;266	ENSP00000304169:P273A;ENSP00000378097:P266A;ENSP00000347192:P220A;ENSP00000347004:P266A;ENSP00000421454:P266A	ENSP00000304169:P273A	P	-	1	0	PITX2	111758888	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.903000	0.87398	2.689000	0.91719	0.655000	0.94253	CCG	.		0.597	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2		
C4orf32	132720	hgsc.bcm.edu	37	4	113066831	113066831	+	Missense_Mutation	SNP	G	G	A	rs10002700	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:113066831G>A	ENST00000309733.5	+	1	279	c.95G>A	c.(94-96)gGg>gAg	p.G32E		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	32				G -> E (in Ref. 1; BAC04841 and 3; AAH22534). {ECO:0000305}.		integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		gcagggaccgggtgggatccc	0.806													A|||	5004	0.999201	1.0	1.0	5008	,	,		5782	1.0		0.996	False		,,,				2504	1.0				p.G32E		.											.	C4orf32-90	0			c.G95A						.	A	GLU/GLY	2990,0		1495,0,0	3.0	5.0	4.0		95	2.0	0.1	4	dbSNP_119	4	6170,26		3072,26,0	no	missense	C4orf32	NM_152400.2	98	4567,26,0	AA,AG,GG		0.4196,0.0,0.283	benign	32/133	113066831	9160,26	1495	3098	4593	SO:0001583	missense	132720	exon1			GGACCGGGTGGGA	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.95G>A	4.37:g.113066831G>A	ENSP00000310182:p.Gly32Glu	0	0		5	5	NM_152400	0	0	0	0	0	Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	ENST00000309733.5	37	CCDS3695.1	2136	0.978021978021978	469	0.9532520325203252	355	0.9806629834254144	563	0.9842657342657343	749	0.9881266490765171	A	0.015	-1.569980	0.00895	1.0	0.995804	ENSG00000174749	ENST00000309733	T	0.42513	0.97	3.18	2.02	0.26589	.	0.619595	0.14277	N	0.329768	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	9	0.02654	T	1	-1.079	4.6216	0.12455	0.712:0.0:0.288:0.0	rs10002700;rs17845705;rs17858649	32	Q8N8J7	CD032_HUMAN	E	32	ENSP00000310182:G32E	ENSP00000310182:G32E	G	+	2	0	C4orf32	113286280	0.547000	0.26465	0.070000	0.20053	0.008000	0.06430	0.688000	0.25422	0.414000	0.25790	-0.893000	0.02921	GGG	G|0.022;A|0.978		0.806	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400	
ANK2	287	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	114199709	114199709	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:114199709G>T	ENST00000357077.4	+	17	1929	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	ANK2_ENST00000394537.3_Missense_Mutation_p.A626S|ANK2_ENST00000506722.1_Missense_Mutation_p.A605S|ANK2_ENST00000264366.6_Missense_Mutation_p.A626S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	626					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCATGCCACTGCCAAGGTGAG	0.468											OREG0016024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A626S		.											.	ANK2-583	0			c.G1876T						.						86.0	74.0	78.0					4																	114199709		2203	4300	6503	SO:0001583	missense	287	exon17			GCCACTGCCAAGG	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1876G>T	4.37:g.114199709G>T	ENSP00000349588:p.Ala626Ser	118	1	1456	187	116	NM_001148	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165637	0.94768	.	.	ENSG00000145362	ENST00000503271;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41	5.03	5.03	0.67393	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000059	T	0.25232	0.0613	N	0.08118	0	0.80722	D	1	D;D;D;D;B	0.89917	0.983;0.984;0.979;1.0;0.096	D;D;D;D;P	0.91635	0.974;0.922;0.978;0.999;0.529	T	0.39742	-0.9599	10	0.66056	D	0.02	.	18.7334	0.91744	0.0:0.0:1.0:0.0	.	626;626;626;605;605	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	S	605;605;641;626;626;626;605	ENSP00000423799:A605S;ENSP00000421067:A605S;ENSP00000424722:A641S;ENSP00000378044:A626S;ENSP00000349588:A626S;ENSP00000264366:A626S	ENSP00000264366:A626S	A	+	1	0	ANK2	114419158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.633000	0.98432	2.470000	0.83445	0.650000	0.86243	GCC	.		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	114279073	114279073	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:114279073C>G	ENST00000357077.4	+	38	9352	c.9299C>G	c.(9298-9300)cCa>cGa	p.P3100R	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3067R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3100					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGCAAAACCCATTTCTGTTT	0.453																																					p.P3100R		.											.	ANK2-583	0			c.C9299G						.						55.0	58.0	57.0					4																	114279073		2203	4300	6503	SO:0001583	missense	287	exon38			AAAACCCATTTCT	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9299C>G	4.37:g.114279073C>G	ENSP00000349588:p.Pro3100Arg	86	0		110	73	NM_001148	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930968	0.73327	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	D;D;D	0.99804	-3.38;-3.41;-6.83	5.78	5.78	0.91487	.	0.000000	0.56097	D	0.000025	D	0.99757	0.9902	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97702	1.0185	10	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	3067;3100	Q01484;Q01484-4	ANK2_HUMAN;.	R	3100;3067;110	ENSP00000349588:P3100R;ENSP00000264366:P3067R;ENSP00000422498:P110R	ENSP00000264366:P3067R	P	+	2	0	ANK2	114498522	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	7.818000	0.86416	2.724000	0.93272	0.563000	0.77884	CCA	.		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	114294594	114294594	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:114294594G>A	ENST00000357077.4	+	45	11901	c.11848G>A	c.(11848-11850)Gag>Aag	p.E3950K	ANK2_ENST00000509550.1_Missense_Mutation_p.E1041K|ANK2_ENST00000510275.2_Missense_Mutation_p.E548K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1865K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1856K|ANK2_ENST00000264366.6_Missense_Mutation_p.E3917K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3950					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGTGACACCGAGCAGTCAGA	0.418																																					p.E3950K		.											.	ANK2-583	0			c.G11848A						.						103.0	98.0	99.0					4																	114294594		2203	4300	6503	SO:0001583	missense	287	exon45			GACACCGAGCAGT	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11848G>A	4.37:g.114294594G>A	ENSP00000349588:p.Glu3950Lys	308	0		427	250	NM_001148	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.16|10.16	1.273188|1.273188	0.23221|0.23221	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960;ENST00000506344;ENST00000514167	T;T;T;T;T;D;D|.	0.96300|.	-0.31;-0.28;-0.35;-0.36;-1.06;-2.04;-3.97|.	5.76|5.76	-1.61|-1.61	0.08399|0.08399	.|.	1.467820|.	0.04745|.	N|.	0.423564|.	T|T	0.40347|0.40347	0.1113|0.1113	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;B;B;P;B;P;B;B|.	0.46020|.	0.031;0.324;0.117;0.519;0.226;0.871;0.005;0.037|.	B;B;B;B;B;B;B;B|.	0.29598|.	0.015;0.035;0.035;0.057;0.017;0.104;0.003;0.021|.	T|T	0.38845|0.38845	-0.9642|-0.9642	10|5	0.32370|.	T|.	0.25|.	.|.	6.7665|6.7665	0.23571|0.23571	0.2498:0.3305:0.4197:0.0|0.2498:0.3305:0.4197:0.0	.|.	1041;27;28;931;897;1865;3950;1856|.	E9PCH6;A5XEJ9;E9PB80;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.;.;.|.	K|Q	1856;931;1865;3950;3917;1856;1041;548;960|897;41;27	ENSP00000421067:E1856K;ENSP00000378044:E1865K;ENSP00000349588:E3950K;ENSP00000264366:E3917K;ENSP00000426944:E1041K;ENSP00000421023:E548K;ENSP00000422498:E960K|.	ENSP00000264366:E3917K|.	E|R	+|+	1|2	0|0	ANK2|ANK2	114514043|114514043	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.331000|0.331000	0.28603|0.28603	0.746000|0.746000	0.26275|0.26275	-0.765000|-0.765000	0.04645|0.04645	-0.137000|-0.137000	0.14449|0.14449	GAG|CGA	.		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
UGT8	7368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	115544819	115544819	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:115544819A>T	ENST00000310836.6	+	2	1305	c.783A>T	c.(781-783)gtA>gtT	p.V261V	UGT8_ENST00000394511.3_Silent_p.V261V	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	261					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TTGTTTATGTAGGAGGAATCC	0.423																																					p.V261V		.											.	UGT8-92	0			c.A783T						.						70.0	73.0	72.0					4																	115544819		2203	4300	6503	SO:0001819	synonymous_variant	7368	exon1			TTATGTAGGAGGA	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.783A>T	4.37:g.115544819A>T		126	0		163	91	NM_003360	0	0	0	0	0	B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	CCDS3705.1																																																																																			.		0.423	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360	
NDST4	64579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	115773935	115773935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:115773935C>A	ENST00000264363.2	-	8	2440	c.1762G>T	c.(1762-1764)Gag>Tag	p.E588*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	588	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAAGTTTTCTCTCTGGACCAG	0.353																																					p.E588X		.											.	NDST4-94	0			c.G1762T						.						139.0	135.0	136.0					4																	115773935		2203	4300	6503	SO:0001587	stop_gained	64579	exon8			TTTTCTCTCTGGA	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1762G>T	4.37:g.115773935C>A	ENSP00000264363:p.Glu588*	108	0		112	69	NM_022569	0	0	0	0	0	Q2KHM8	Nonsense_Mutation	SNP	ENST00000264363.2	37	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	41	8.642885	0.98897	.	.	ENSG00000138653	ENST00000264363	.	.	.	5.58	5.58	0.84498	.	0.152472	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.5672	0.95398	0.0:1.0:0.0:0.0	.	.	.	.	X	588	.	ENSP00000264363:E588X	E	-	1	0	NDST4	115993384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.476000	0.81055	2.616000	0.88540	0.655000	0.94253	GAG	.		0.353	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
SYNPO2	171024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	119978893	119978893	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:119978893A>T	ENST00000307142.4	+	5	3786	c.3590A>T	c.(3589-3591)cAa>cTa	p.Q1197L	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGTGGAAGGCAAGAGTATAAT	0.453																																					p.Q1197L		.											.	SYNPO2-92	0			c.A3590T						.						85.0	82.0	83.0					4																	119978893		2203	4300	6503	SO:0001583	missense	171024	exon5			GAAGGCAAGAGTA	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3590A>T	4.37:g.119978893A>T	ENSP00000306015:p.Gln1197Leu	328	0		490	66	NM_133477	0	0	0	0	0	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.299295	0.23650	.	.	ENSG00000172403	ENST00000307142	T	0.08102	3.13	5.76	-5.2	0.02823	.	0.772757	0.11053	N	0.604811	T	0.04952	0.0133	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.42327	-0.9458	9	.	.	.	-0.0133	10.0005	0.41927	0.3843:0.0:0.5154:0.1003	.	1197;1197	B9EG60;Q9UMS6-2	.;.	L	1197	ENSP00000306015:Q1197L	.	Q	+	2	0	SYNPO2	120198341	0.992000	0.36948	0.010000	0.14722	0.299000	0.27559	0.629000	0.24538	-0.802000	0.04421	-0.250000	0.11733	CAA	.		0.453	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1		
ANXA5	308	bcgsc.ca	37	4	122593694	122593694	+	Nonsense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:122593694T>A	ENST00000296511.5	-	9	904	c.619A>T	c.(619-621)Aga>Tga	p.R207*	ANXA5_ENST00000501272.2_Nonsense_Mutation_p.R147*|ANXA5_ENST00000515017.1_Nonsense_Mutation_p.R107*	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	207					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TCACCCTTTCTCAAATGAGAC	0.408																																					p.R207X	Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	.											.	ANXA5-91	0			c.A619T						.						79.0	72.0	75.0					4																	122593694		2203	4300	6503	SO:0001587	stop_gained	308	exon9			CCTTTCTCAAATG	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.619A>T	4.37:g.122593694T>A	ENSP00000296511:p.Arg207*	34	1		59	37	NM_001154	0	0	0	0	0	D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Nonsense_Mutation	SNP	ENST00000296511.5	37	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	T	37	6.363966	0.97507	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272;ENST00000515017	.	.	.	5.88	3.42	0.39159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.363	0.32369	0.0:0.0687:0.1332:0.798	.	.	.	.	X	207;207;147;107	.	ENSP00000296511:R207X	R	-	1	2	ANXA5	122813144	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	2.433000	0.44793	0.464000	0.27142	0.533000	0.62120	AGA	.		0.408	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154	
TRPC3	7222	ucsc.edu;bcgsc.ca	37	4	122853706	122853706	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:122853706G>A	ENST00000379645.3	-	2	780	c.707C>T	c.(706-708)cCc>cTc	p.P236L	TRPC3_ENST00000513531.1_Missense_Mutation_p.P163L|TRPC3_ENST00000264811.5_Missense_Mutation_p.P163L	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	151					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGGATGATGGGGGTGATGTC	0.607																																					p.P236L		.											.	TRPC3-92	0			c.C707T						.						76.0	72.0	74.0					4																	122853706		2203	4300	6503	SO:0001583	missense	7222	exon2			ATGATGGGGGTGA	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.707C>T	4.37:g.122853706G>A	ENSP00000368966:p.Pro236Leu	222	3		350	225	NM_001130698	0	0	0	0	0	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271240	0.95429	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.74842	-0.88;-0.88;-0.88	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.90689	0.7079	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92712	0.6184	10	0.87932	D	0	-10.5822	19.7417	0.96234	0.0:0.0:1.0:0.0	.	163;236	E9PCJ9;Q5G1L5	.;.	L	163;236;163	ENSP00000264811:P163L;ENSP00000368966:P236L;ENSP00000426899:P163L	ENSP00000264811:P163L	P	-	2	0	TRPC3	123073156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.661000	0.90470	0.655000	0.94253	CCC	.		0.607	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
TRPC3	7222	bcgsc.ca	37	4	122853981	122853981	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:122853981G>T	ENST00000379645.3	-	2	505	c.432C>A	c.(430-432)gaC>gaA	p.D144E	TRPC3_ENST00000513531.1_Missense_Mutation_p.D71E|TRPC3_ENST00000264811.5_Missense_Mutation_p.D71E	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	59					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGCCCATGTAGTCCACGCAGT	0.637																																					p.D144E		.											.	TRPC3-92	0			c.C432A						.						62.0	57.0	59.0					4																	122853981		2203	4300	6503	SO:0001583	missense	7222	exon2			CATGTAGTCCACG	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.432C>A	4.37:g.122853981G>T	ENSP00000368966:p.Asp144Glu	203	4		469	307	NM_001130698	0	0	0	0	0	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272617	0.80580	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.48	5.95	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.88540	0.6464	H	0.95079	3.62	0.42100	D	0.991336	D;D	0.69078	0.997;0.989	D;D	0.73708	0.981;0.977	D	0.90266	0.4304	10	0.87932	D	0	-1.6598	9.4427	0.38679	0.2107:0.0:0.7893:0.0	.	71;144	E9PCJ9;Q5G1L5	.;.	E	71;144;71;71	ENSP00000264811:D71E;ENSP00000368966:D144E;ENSP00000426899:D71E;ENSP00000422214:D71E	ENSP00000264811:D71E	D	-	3	2	TRPC3	123073431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.498000	0.45363	1.534000	0.49203	0.655000	0.94253	GAC	.		0.637	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
KIAA1109	84162	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	123227129	123227129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:123227129C>A	ENST00000264501.4	+	57	10143	c.9770C>A	c.(9769-9771)tCa>tAa	p.S3257*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.S3257*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.S3257*			Q2LD37	K1109_HUMAN	KIAA1109	3257					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTGGTTCTTCAGATAGGGAA	0.383																																					p.S3257X		.											.	KIAA1109-80	0			c.C9770A						.						133.0	129.0	130.0					4																	123227129		1838	4081	5919	SO:0001587	stop_gained	84162	exon55			GTTCTTCAGATAG	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9770C>A	4.37:g.123227129C>A	ENSP00000264501:p.Ser3257*	92	1		99	61	NM_015312	0	0	0	0	0	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	51|51	17.888764|17.888764	0.99895|0.99895	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	T|.	0.54631|.	0.1870|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44651|.	-0.9314|.	3|.	.|0.08179	.|T	.|0.78	.|.	19.1448|19.1448	0.93461|0.93461	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1214|3257	.|.	.|ENSP00000264501:S3257X	F|S	+|+	3|2	2|0	KIAA1109|KIAA1109	123446579|123446579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.808000|5.808000	0.69165|0.69165	2.540000|2.540000	0.85666|0.85666	0.591000|0.591000	0.81541|0.81541	TTC|TCA	.		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
ANKRD50	57182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	125591276	125591276	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:125591276T>A	ENST00000504087.1	-	4	4193	c.3156A>T	c.(3154-3156)gcA>gcT	p.A1052A	ANKRD50_ENST00000515641.1_Silent_p.A873A	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1052										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTTCCTGGGCTGCAATACAGA	0.488																																					p.A1052A		.											.	ANKRD50-90	0			c.A3156T						.						105.0	94.0	98.0					4																	125591276		2203	4300	6503	SO:0001819	synonymous_variant	57182	exon4			CTGGGCTGCAATA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3156A>T	4.37:g.125591276T>A		348	0		498	320	NM_020337	0	0	0	0	0	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	CCDS34060.1																																																																																			.		0.488	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
ANKRD50	57182	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	125592669	125592669	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:125592669T>G	ENST00000504087.1	-	4	2800	c.1763A>C	c.(1762-1764)cAg>cCg	p.Q588P	ANKRD50_ENST00000515641.1_Missense_Mutation_p.Q409P	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	588										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GGTATGTCCCTGTCTAGCCGC	0.433																																					p.Q588P		.											.	ANKRD50-90	0			c.A1763C						.						84.0	78.0	80.0					4																	125592669		2203	4300	6503	SO:0001583	missense	57182	exon4			TGTCCCTGTCTAG	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1763A>C	4.37:g.125592669T>G	ENSP00000425658:p.Gln588Pro	105	0		152	13	NM_020337	0	0	0	0	0	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.380606	0.24944	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.65178	-0.14;2.41	5.12	5.12	0.69794	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	M	0.73430	2.235	0.80722	D	1	D	0.61697	0.99	P	0.62491	0.903	T	0.77963	-0.2390	10	0.48119	T	0.1	.	15.0843	0.72138	0.0:0.0:0.0:1.0	.	588	Q9ULJ7	ANR50_HUMAN	P	588;409	ENSP00000425658:Q588P;ENSP00000425355:Q409P	ENSP00000425658:Q588P	Q	-	2	0	ANKRD50	125812119	1.000000	0.71417	0.990000	0.47175	0.069000	0.16628	7.365000	0.79537	2.148000	0.66965	0.528000	0.53228	CAG	.		0.433	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	126370695	126370695	+	Nonsense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:126370695A>T	ENST00000394329.3	+	9	8537	c.8524A>T	c.(8524-8526)Aga>Tga	p.R2842*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1140*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2842	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGACCGTTACAGAATTCGAGT	0.388																																					p.R2842X		.											.	FAT4-108	0			c.A8524T						.						76.0	76.0	76.0					4																	126370695		2203	4298	6501	SO:0001587	stop_gained	79633	exon9			CGTTACAGAATTC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8524A>T	4.37:g.126370695A>T	ENSP00000377862:p.Arg2842*	92	0		124	18	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	49	15.740002	0.99843	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.61	3.03	0.35002	.	0.000000	0.34879	U	0.003613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	13.2533	0.60064	0.6245:0.3755:0.0:0.0	.	.	.	.	X	2842;1140	.	ENSP00000335169:R1140X	R	+	1	2	FAT4	126590145	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	4.277000	0.58939	0.433000	0.26313	0.533000	0.62120	AGA	.		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	126372220	126372220	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:126372220A>T	ENST00000394329.3	+	9	10062	c.10049A>T	c.(10048-10050)aAg>aTg	p.K3350M	FAT4_ENST00000335110.5_Missense_Mutation_p.K1648M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3350	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGATCAATAAGAAGACTGGA	0.413																																					p.K3350M		.											.	FAT4-108	0			c.A10049T						.						105.0	108.0	107.0					4																	126372220		2203	4300	6503	SO:0001583	missense	79633	exon9			TCAATAAGAAGAC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10049A>T	4.37:g.126372220A>T	ENSP00000377862:p.Lys3350Met	107	0		141	84	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	5.718	0.317030	0.10845	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01821	4.62;4.62	5.42	1.68	0.24146	Cadherin (4);Cadherin-like (1);	0.208536	0.22801	U	0.055473	T	0.02571	0.0078	L	0.46157	1.445	0.09310	N	1	P;P;P	0.47409	0.755;0.858;0.895	B;P;P	0.48704	0.386;0.587;0.452	T	0.41716	-0.9493	10	0.62326	D	0.03	.	3.0457	0.06153	0.6148:0.1276:0.1457:0.1119	.	1648;3350;3350	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	M	3350;1648	ENSP00000377862:K3350M;ENSP00000335169:K1648M	ENSP00000335169:K1648M	K	+	2	0	FAT4	126591670	0.999000	0.42202	0.704000	0.30370	0.007000	0.05969	1.420000	0.34804	0.906000	0.36621	-0.250000	0.11733	AAG	.		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
SCLT1	132320	broad.mit.edu;ucsc.edu	37	4	129964623	129964623	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:129964623C>A	ENST00000281142.5	-	4	665		c.e4-1		SCLT1_ENST00000511426.1_Splice_Site|SCLT1_ENST00000503215.1_Splice_Site|SCLT1_ENST00000439369.2_Splice_Site|SCLT1_ENST00000506368.1_Splice_Site|SCLT1_ENST00000503401.1_Splice_Site|SCLT1_ENST00000434680.1_Splice_Site	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1						cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AGCTAAAAAGCTAAAAAAAGA	0.269																																					.		.											.	SCLT1-525	0			c.162-1G>T						.						36.0	36.0	36.0					4																	129964623		2203	4289	6492	SO:0001630	splice_region_variant	132320	exon5			AAAAAGCTAAAAA	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.162-1G>T	4.37:g.129964623C>A		124	2		61	11	NM_144643	0	0	0	0	0	A4QN04|Q0VAH2|Q6P2M4	Splice_Site	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	8.334	0.827214	0.16749	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215;ENST00000506368;ENST00000511426;ENST00000503401	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3598	0.55197	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCLT1	130184073	1.000000	0.71417	0.994000	0.49952	0.057000	0.15508	3.394000	0.52551	2.272000	0.75746	0.563000	0.77884	.	.		0.269	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643	Intron
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	134071578	134071578	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:134071578C>A	ENST00000264360.5	+	1	1109	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	95	Cadherin 1. {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)		TGTCCTGCACCTGGAGGTCTT	0.557																																					p.L95M		.											.	PCDH10-92	0			c.C283A						.						54.0	61.0	58.0					4																	134071578		2203	4300	6503	SO:0001583	missense	57575	exon1			CTGCACCTGGAGG	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.283C>A	4.37:g.134071578C>A	ENSP00000264360:p.Leu95Met	140	0		65	16	NM_032961	0	0	0	0	0	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361366	0.41801	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.42131	0.98	4.78	4.78	0.61160	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.35436	N	0.003219	T	0.39784	0.1091	L	0.60957	1.885	0.51482	D	0.999926	P;B	0.41131	0.739;0.305	B;B	0.39562	0.221;0.303	T	0.38023	-0.9680	10	0.54805	T	0.06	.	11.1379	0.48386	0.0:0.914:0.0:0.086	.	95;95	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	95	ENSP00000264360:L95M	ENSP00000264360:L95M	L	+	1	2	PCDH10	134291028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.177000	0.50871	2.467000	0.83353	0.555000	0.69702	CTG	.		0.557	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	134071922	134071922	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:134071922G>A	ENST00000264360.5	+	1	1453	c.627G>A	c.(625-627)ggG>ggA	p.G209G	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	209	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(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)		gaggaggtgggggaggagtag	0.682																																					p.G209G		.											.	PCDH10-92	0			c.G627A						.						29.0	30.0	30.0					4																	134071922		2203	4299	6502	SO:0001819	synonymous_variant	57575	exon1			AGGTGGGGGAGGA	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.627G>A	4.37:g.134071922G>A		70	0		77	27	NM_032961	0	0	0	0	0	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																			.		0.682	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	134073851	134073851	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:134073851C>A	ENST00000264360.5	+	1	3382	c.2556C>A	c.(2554-2556)ccC>ccA	p.P852P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	852					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)		AGCACAACCCCTGCGGGGCCA	0.572																																					p.P852P		.											.	PCDH10-92	0			c.C2556A						.						83.0	78.0	80.0					4																	134073851		2203	4300	6503	SO:0001819	synonymous_variant	57575	exon1			CAACCCCTGCGGG	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.2556C>A	4.37:g.134073851C>A		256	0		160	60	NM_032961	0	0	0	0	0	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																			.		0.572	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH18	54510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	138451929	138451929	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:138451929C>A	ENST00000344876.4	-	1	1700	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D	PCDH18_ENST00000507846.1_Missense_Mutation_p.E218D|PCDH18_ENST00000412923.2_Missense_Mutation_p.E438D|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	438	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCCCCTGTCCTCAGCGATTA	0.373																																					p.E438D		.											.	PCDH18-185	0			c.G1314T						.						136.0	135.0	135.0					4																	138451929		2203	4300	6503	SO:0001583	missense	54510	exon1			CCTGTCCTCAGCG	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1314G>T	4.37:g.138451929C>A	ENSP00000355082:p.Glu438Asp	65	0		29	5	NM_019035	0	0	0	0	0	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026341	0.54683	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.52754	0.65;0.65;0.65	6.04	3.42	0.39159	Cadherin (4);Cadherin-like (1);	0.000000	0.43747	D	0.000534	T	0.67373	0.2886	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.984;0.999	T	0.67284	-0.5709	10	0.52906	T	0.07	.	11.2053	0.48765	0.0:0.8035:0.0:0.1965	.	218;438;438	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	D	438;438;218	ENSP00000355082:E438D;ENSP00000390688:E438D;ENSP00000425903:E218D	ENSP00000355082:E438D	E	-	3	2	PCDH18	138671379	0.992000	0.36948	0.998000	0.56505	0.970000	0.65996	0.410000	0.21098	0.454000	0.26884	0.563000	0.77884	GAG	.		0.373	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
ZNF330	27309	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	142155000	142155000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:142155000G>T	ENST00000262990.4	+	10	1048	c.820G>T	c.(820-822)Gag>Tag	p.E274*	ZNF330_ENST00000421169.2_Nonsense_Mutation_p.E214*	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	274	Asp/Glu-rich (acidic).					chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					ggaggaggatgagtatgaagc	0.418																																					p.E274X		.											.	ZNF330-90	0			c.G820T						.						129.0	126.0	127.0					4																	142155000		2203	4300	6503	SO:0001587	stop_gained	27309	exon10			GAGGATGAGTATG	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.820G>T	4.37:g.142155000G>T	ENSP00000262990:p.Glu274*	243	1		176	42	NM_014487	0	0	0	0	0	B2RDA3	Nonsense_Mutation	SNP	ENST00000262990.4	37	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	38	7.158285	0.98103	.	.	ENSG00000109445	ENST00000262990;ENST00000421169	.	.	.	6.17	6.17	0.99709	.	0.349525	0.33610	N	0.004722	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-19.5146	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	274;214	.	ENSP00000262990:E274X	E	+	1	0	ZNF330	142374450	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	7.222000	0.78025	2.941000	0.99782	0.655000	0.94253	GAG	.		0.418	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487	
GAB1	2549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	144359748	144359748	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:144359748G>C	ENST00000262994.4	+	4	1492	c.1190G>C	c.(1189-1191)cGa>cCa	p.R397P	GAB1_ENST00000262995.4_Missense_Mutation_p.R397P|GAB1_ENST00000505913.1_Missense_Mutation_p.R294P	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	397					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AACAAATTGCGAAAAGGTCAG	0.378																																					p.R397P		.											.	GAB1-1146	0			c.G1190C						.						90.0	86.0	87.0					4																	144359748		2203	4300	6503	SO:0001583	missense	2549	exon4			AATTGCGAAAAGG	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1190G>C	4.37:g.144359748G>C	ENSP00000262994:p.Arg397Pro	71	0		44	11	NM_207123	0	0	0	0	0	A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.025996	0.54683	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.26518	1.73;1.73;1.73	5.59	4.74	0.60224	.	0.060160	0.64402	D	0.000002	T	0.38054	0.1026	M	0.62723	1.935	0.53005	D	0.999968	P;D	0.57571	0.8;0.98	B;P	0.57101	0.282;0.813	T	0.11421	-1.0588	10	0.30854	T	0.27	-29.1809	9.3878	0.38354	0.0713:0.0:0.7839:0.1448	.	397;397	Q13480;Q13480-2	GAB1_HUMAN;.	P	397;397;294	ENSP00000262995:R397P;ENSP00000262994:R397P;ENSP00000424554:R294P	ENSP00000262994:R397P	R	+	2	0	GAB1	144579198	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	7.160000	0.77495	1.346000	0.45694	0.655000	0.94253	CGA	.		0.378	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039	
MMAA	166785	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	146563573	146563573	+	Missense_Mutation	SNP	G	G	T	rs186933110		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:146563573G>T	ENST00000281317.5	+	3	1708	c.498G>T	c.(496-498)atG>atT	p.M166I	MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	166					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGAAAAATGCTTACTGAGA	0.403																																					p.M166I		.											.	MMAA-91	0			c.G498T						.						177.0	178.0	178.0					4																	146563573		2203	4300	6503	SO:0001583	missense	166785	exon3			AAAAATGCTTACT	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.498G>T	4.37:g.146563573G>T	ENSP00000281317:p.Met166Ile	102	0		71	13	NM_172250	0	0	0	0	0	B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705598	0.68615	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.91180	-2.8	5.56	5.56	0.83823	ATPase, AAA+ type, core (1);	0.033921	0.85682	D	0.000000	D	0.90896	0.7139	M	0.69523	2.12	0.80722	D	1	P;B	0.35242	0.492;0.093	B;B	0.38225	0.268;0.077	D	0.88736	0.3240	10	0.25106	T;T	0.35;0.35	-25.9969	19.5332	0.95237	0.0:0.0:1.0:0.0	.	166;166	Q8IVH4;D6RIS5	MMAA_HUMAN;.	I	166	ENSP00000281317:M166I	ENSP00000281317:M166I;ENSP00000281317:M166I	M	+	3	0	MMAA	146783023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.608000	0.88229	0.591000	0.81541	ATG	G|0.999;A|0.000		0.403	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2		
ARHGAP10	79658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	148968042	148968042	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:148968042G>T	ENST00000336498.3	+	20	2106		c.e20-1		ARHGAP10_ENST00000414545.2_Splice_Site	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTCCTCCTAGGTGACAATCC	0.443																																					.		.											.	ARHGAP10-229	0			c.1868-1G>T						.						64.0	67.0	66.0					4																	148968042		2203	4299	6502	SO:0001630	splice_region_variant	79658	exon20			CTCCTAGGTGACA	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1868-1G>T	4.37:g.148968042G>T		40	0		25	9	NM_024605	0	0	0	0	0	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000336498.3	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010451	0.35511	.	.	ENSG00000071205	ENST00000336498;ENST00000507661;ENST00000414545	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9082	0.86133	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP10	149187492	1.000000	0.71417	0.998000	0.56505	0.205000	0.24178	5.598000	0.67585	2.723000	0.93209	0.655000	0.94253	.	.		0.443	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	Intron
SFRP2	6423	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	154709637	154709637	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:154709637G>T	ENST00000274063.4	-	1	635	c.351C>A	c.(349-351)ctC>ctA	p.L117L		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	117	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CCTGCACGCAGAGCGAGTGGC	0.642																																					p.L117L		.											.	SFRP2-659	0			c.C351A						.						100.0	107.0	105.0					4																	154709637		2203	4300	6503	SO:0001819	synonymous_variant	6423	exon1			CACGCAGAGCGAG	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.351C>A	4.37:g.154709637G>T		256	0		200	48	NM_003013	0	0	0	0	0	B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	CCDS34082.1																																																																																			.		0.642	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1		
DCHS2	54798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	155156608	155156608	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:155156608C>T	ENST00000357232.4	-	25	7830	c.7831G>A	c.(7831-7833)Gat>Aat	p.D2611N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2611					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGAGTGGCATCCACAGGGACC	0.488																																					p.D2611N		.											.	DCHS2-94	0			c.G7831A						.						124.0	124.0	124.0					4																	155156608		2203	4300	6503	SO:0001583	missense	54798	exon25			TGGCATCCACAGG	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7831G>A	4.37:g.155156608C>T	ENSP00000349768:p.Asp2611Asn	129	0		64	20	NM_017639	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.458872	0.01062	.	.	ENSG00000197410	ENST00000357232	T	0.53857	0.6	5.82	1.76	0.24704	.	1.139140	0.06477	N	0.732176	T	0.44117	0.1278	L	0.51422	1.61	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.27502	-1.0072	10	0.17832	T	0.49	.	6.4512	0.21903	0.0:0.6331:0.1267:0.2402	.	2611	Q6V1P9	PCD23_HUMAN	N	2611	ENSP00000349768:D2611N	ENSP00000349768:D2611N	D	-	1	0	DCHS2	155376058	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	1.436000	0.34980	0.002000	0.14630	0.467000	0.42956	GAT	.		0.488	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	155241704	155241704	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:155241704T>A	ENST00000357232.4	-	14	3481	c.3482A>T	c.(3481-3483)cAc>cTc	p.H1161L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1161	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGTGGGGTTGTGGTCATTTAC	0.478																																					p.H1161L		.											.	DCHS2-94	0			c.A3482T						.						201.0	190.0	194.0					4																	155241704		2203	4300	6503	SO:0001583	missense	54798	exon14			GGGTTGTGGTCAT	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3482A>T	4.37:g.155241704T>A	ENSP00000349768:p.His1161Leu	279	0		190	60	NM_017639	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155179	0.78114	.	.	ENSG00000197410	ENST00000357232	T	0.38401	1.14	5.59	5.59	0.84812	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.199430	0.35235	N	0.003357	T	0.37919	0.1021	M	0.64404	1.975	0.80722	D	1	P	0.48764	0.915	B	0.42062	0.374	T	0.20571	-1.0271	10	0.22706	T	0.39	.	15.7718	0.78176	0.0:0.0:0.0:1.0	.	1161	Q6V1P9	PCD23_HUMAN	L	1161	ENSP00000349768:H1161L	ENSP00000349768:H1161L	H	-	2	0	DCHS2	155461154	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.698000	0.84413	2.130000	0.65690	0.460000	0.39030	CAC	.		0.478	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	ucsc.edu;bcgsc.ca	37	4	155411953	155411953	+	Silent	SNP	G	G	T	rs537489691		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:155411953G>T	ENST00000339452.1	-	1	915	c.555C>A	c.(553-555)gcC>gcA	p.A185A	DCHS2_ENST00000443500.1_Silent_p.A185A|DCHS2_ENST00000456341.2_Silent_p.A178A	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1392	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(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCAGGCGGAAGGCGGTCCCTG	0.667																																					p.A185A		.											.	DCHS2-94	0			c.C555A						.						24.0	32.0	29.0					4																	155411953		692	1591	2283	SO:0001819	synonymous_variant	54798	exon1			GCGGAAGGCGGTC	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.555C>A	4.37:g.155411953G>T		247	2		414	114	NM_001142552	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000339452.1	37	CCDS47150.1																																																																																			.		0.667	DCHS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000365282.1	NM_001142552	
GRIA2	2891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	158224710	158224710	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:158224710C>A	ENST00000264426.9	+	3	515	c.236C>A	c.(235-237)tCc>tAc	p.S79Y	GRIA2_ENST00000296526.7_Missense_Mutation_p.S79Y|GRIA2_ENST00000449365.1_Missense_Mutation_p.S32Y|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000393815.2_Missense_Mutation_p.S32Y|GRIA2_ENST00000507898.1_Missense_Mutation_p.S32Y	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	79					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTAGTCTGCTCCCAGTTTTCG	0.343																																					p.S79Y		.											.	GRIA2-515	0			c.C236A						.						94.0	93.0	93.0					4																	158224710		2203	4300	6503	SO:0001583	missense	2891	exon3			TCTGCTCCCAGTT		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.236C>A	4.37:g.158224710C>A	ENSP00000264426:p.Ser79Tyr	68	0		49	8	NM_000826	0	0	0	0	0	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.814065	0.90790	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000506284;ENST00000505888;ENST00000449365	T;T;T;T;T;D;T;T	0.83506	2.01;2.01;2.01;2.01;2.01;-1.73;2.01;2.01	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.90855	0.4734	10	0.72032	D	0.01	.	20.0536	0.97638	0.0:1.0:0.0:0.0	.	79;79;32	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	Y	32;32;79;79;79;32;32;32	ENSP00000426845:S32Y;ENSP00000377403:S32Y;ENSP00000425217:S79Y;ENSP00000296526:S79Y;ENSP00000264426:S79Y;ENSP00000426513:S32Y;ENSP00000422038:S32Y;ENSP00000389837:S32Y	ENSP00000264426:S79Y	S	+	2	0	GRIA2	158444160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.783000	0.85696	2.737000	0.93849	0.650000	0.86243	TCC	.		0.343	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
FAM198B	51313	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	159092012	159092012	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:159092012C>G	ENST00000296530.8	-	2	1137	c.516G>C	c.(514-516)ctG>ctC	p.L172L	FAM198B_ENST00000585682.1_Silent_p.L172L|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Silent_p.L172L|FAM198B_ENST00000592057.1_Silent_p.L172L|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	172						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CAATCTTAACCAGGTTTGCTC	0.637											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L172L		.											.	FAM198B-90	0			c.G516C						.						47.0	50.0	49.0					4																	159092012		2203	4300	6503	SO:0001819	synonymous_variant	51313	exon2			CTTAACCAGGTTT		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.516G>C	4.37:g.159092012C>G		134	0	1798	91	24	NM_016613	0	0	0	0	0	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	CCDS3798.1																																																																																			.		0.637	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
TMEM144	55314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	159162724	159162724	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:159162724T>A	ENST00000296529.6	+	11	1386	c.866T>A	c.(865-867)cTg>cAg	p.L289Q	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	289						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AATCACTCTCTGAGTGCTGTG	0.388																																					p.L289Q		.											.	TMEM144-90	0			c.T866A						.						276.0	251.0	260.0					4																	159162724		2203	4300	6503	SO:0001583	missense	55314	exon11			ACTCTCTGAGTGC	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.866T>A	4.37:g.159162724T>A	ENSP00000296529:p.Leu289Gln	55	0		35	10	NM_018342	0	0	0	0	0	D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319629	0.81469	.	.	ENSG00000164124	ENST00000296529	T	0.72394	-0.65	5.72	5.72	0.89469	.	0.074930	0.53938	D	0.000043	D	0.85944	0.5815	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88443	0.3043	10	0.72032	D	0.01	-46.2679	13.9523	0.64126	0.0:0.0:0.0:1.0	.	289	Q7Z5S9	TM144_HUMAN	Q	289	ENSP00000296529:L289Q	ENSP00000296529:L289Q	L	+	2	0	TMEM144	159382174	1.000000	0.71417	0.917000	0.36280	0.957000	0.61999	6.073000	0.71245	2.183000	0.69458	0.477000	0.44152	CTG	.		0.388	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342	
RXFP1	59350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	159573178	159573178	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:159573178C>A	ENST00000307765.5	+	18	2496	c.2245C>A	c.(2245-2247)Caa>Aaa	p.Q749K	RXFP1_ENST00000470033.1_Missense_Mutation_p.Q716K|RXFP1_ENST00000460056.2_Missense_Mutation_p.Q668K|RXFP1_ENST00000343542.5_Missense_Mutation_p.Q701K|RXFP1_ENST00000448688.2_Missense_Mutation_p.Q644K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	749					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ACTGATTTCTCAATCAACGAG	0.438																																					p.Q776K		.											.	RXFP1-91	0			c.C2326A						.						106.0	98.0	100.0					4																	159573178		1860	4113	5973	SO:0001583	missense	59350	exon18			ATTTCTCAATCAA	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.2245C>A	4.37:g.159573178C>A	ENSP00000303248:p.Gln749Lys	67	0		46	9	NM_001253727	0	0	0	0	0	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708801	0.30322	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.69040	-0.22;-0.32;-0.19;-0.37;-0.33	5.75	4.04	0.47022	.	0.281717	0.34025	N	0.004330	T	0.57621	0.2066	L	0.44542	1.39	0.30765	N	0.743683	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.08055	0.001;0.002;0.001;0.003;0.002;0.001;0.001;0.001	T	0.56153	-0.8026	10	0.36615	T	0.2	.	12.6944	0.56994	0.0:0.8828:0.0:0.1172	.	760;776;644;701;716;668;619;749	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	K	668;749;644;701;716;619	ENSP00000423306:Q668K;ENSP00000303248:Q749K;ENSP00000414885:Q644K;ENSP00000345889:Q701K;ENSP00000420712:Q716K	ENSP00000303248:Q749K	Q	+	1	0	RXFP1	159792628	0.997000	0.39634	0.745000	0.31077	0.338000	0.28826	2.077000	0.41557	0.777000	0.33496	0.655000	0.94253	CAA	.		0.438	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634	
NPY1R	4886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	164247178	164247178	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:164247178G>T	ENST00000296533.2	-	2	1060	c.529C>A	c.(529-531)Caa>Aaa	p.Q177K	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	177					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.Q177K(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTCATTACTTGGTAGATCAGG	0.433																																					p.Q177K		.											.	NPY1R-523	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C529A						.						120.0	111.0	114.0					4																	164247178		2203	4300	6503	SO:0001583	missense	4886	exon2			TTACTTGGTAGAT		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.529C>A	4.37:g.164247178G>T	ENSP00000354652:p.Gln177Lys	199	0		124	26	NM_000909	0	0	0	0	0	B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623761	0.28889	.	.	ENSG00000164128	ENST00000296533	T	0.71934	-0.61	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.377447	0.28388	N	0.015533	T	0.64907	0.2641	L	0.48218	1.51	0.80722	D	1	B	0.30068	0.267	B	0.31101	0.124	T	0.60576	-0.7236	10	0.29301	T	0.29	.	14.9312	0.70916	0.0:0.0:0.857:0.143	.	177	P25929	NPY1R_HUMAN	K	177	ENSP00000354652:Q177K	ENSP00000354652:Q177K	Q	-	1	0	NPY1R	164466628	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.844000	0.48246	2.771000	0.95319	0.655000	0.94253	CAA	.		0.433	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1		
TKTL2	84076	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	164393463	164393463	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:164393463C>A	ENST00000280605.3	-	1	1584	c.1424G>T	c.(1423-1425)cGa>cTa	p.R475L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	475						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.R475Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGGCTGGTTCGAATGAAGCA	0.453																																					p.R475L		.											.	TKTL2-95	1	Substitution - Missense(1)	skin(1)	c.G1424T						.						104.0	110.0	108.0					4																	164393463		2203	4300	6503	SO:0001583	missense	84076	exon1			CTGGTTCGAATGA	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1424G>T	4.37:g.164393463C>A	ENSP00000280605:p.Arg475Leu	130	0		86	25	NM_032136	0	0	0	0	0	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454001	0.63290	.	.	ENSG00000151005	ENST00000280605	D	0.91464	-2.85	4.15	4.15	0.48705	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.64402	D	0.000001	D	0.96620	0.8897	H	0.98559	4.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	D	0.96055	0.9034	10	0.87932	D	0	-12.685	8.054	0.30593	0.0:0.8931:0.0:0.1069	.	475	Q9H0I9	TKTL2_HUMAN	L	475	ENSP00000280605:R475L	ENSP00000280605:R475L	R	-	2	0	TKTL2	164612913	0.913000	0.31002	0.224000	0.23877	0.811000	0.45836	5.223000	0.65283	2.611000	0.88343	0.650000	0.86243	CGA	.		0.453	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
TLL1	7092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	166960572	166960572	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:166960572T>A	ENST00000061240.2	+	10	1887	c.1240T>A	c.(1240-1242)Tgg>Agg	p.W414R	TLL1_ENST00000507499.1_Missense_Mutation_p.W414R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	414	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGACGGGTACTGGAGAAAATC	0.383																																					p.W414R		.											.	TLL1-158	0			c.T1240A						.						132.0	123.0	126.0					4																	166960572		2203	4300	6503	SO:0001583	missense	7092	exon10			GGGTACTGGAGAA	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1240T>A	4.37:g.166960572T>A	ENSP00000061240:p.Trp414Arg	100	0		63	13	NM_012464	0	0	0	0	0	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.242741	0.58995	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.33438	1.41;1.41	5.62	5.62	0.85841	CUB (5);	0.000000	0.85682	U	0.000000	T	0.49081	0.1536	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.32903	-0.9889	10	0.25751	T	0.34	.	15.8286	0.78733	0.0:0.0:0.0:1.0	.	414;414	E9PD25;O43897	.;TLL1_HUMAN	R	414	ENSP00000061240:W414R;ENSP00000426082:W414R	ENSP00000061240:W414R	W	+	1	0	TLL1	167180022	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	7.948000	0.87774	2.141000	0.66446	0.460000	0.39030	TGG	.		0.383	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
TLL1	7092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	167020586	167020586	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:167020586G>T	ENST00000061240.2	+	20	3461	c.2814G>T	c.(2812-2814)gtG>gtT	p.V938V	TLL1_ENST00000507499.1_Silent_p.V961V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	938	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CATTTGAAGTGGAGGAAGAAG	0.463																																					p.V938V		.											.	TLL1-158	0			c.G2814T						.						205.0	199.0	201.0					4																	167020586		2203	4300	6503	SO:0001819	synonymous_variant	7092	exon20			TGAAGTGGAGGAA	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2814G>T	4.37:g.167020586G>T		290	0		172	55	NM_012464	0	0	0	0	0	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	CCDS3811.1																																																																																			.		0.463	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
DDX60L	91351	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	169383010	169383010	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:169383010C>A	ENST00000511577.1	-	5	693	c.446G>T	c.(445-447)gGc>gTc	p.G149V	DDX60L_ENST00000260184.7_Missense_Mutation_p.G149V|DDX60L_ENST00000505890.1_Missense_Mutation_p.G149V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	149							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATCACTCAGGCCTTCCTCTGA	0.383																																					p.G149V		.											.	DDX60L-69	0			c.G446T						.						61.0	55.0	57.0					4																	169383010		1859	4091	5950	SO:0001583	missense	91351	exon5			CTCAGGCCTTCCT	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.446G>T	4.37:g.169383010C>A	ENSP00000422423:p.Gly149Val	86	0		87	23	NM_001012967	0	0	0	0	0	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.	.	.	.	.	.	.	.	.	.	C	14.84	2.654192	0.47362	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890	T;T;T	0.23348	1.92;1.92;1.91	3.49	1.57	0.23409	.	0.000000	0.38326	U	0.001735	T	0.42040	0.1185	M	0.69358	2.11	0.41065	D	0.985401	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.11060	-1.0603	10	0.37606	T	0.19	.	7.4275	0.27107	0.0:0.7169:0.1776:0.1055	.	149;149	D6R906;Q5H9U9	.;DDX6L_HUMAN	V	149	ENSP00000260184:G149V;ENSP00000422423:G149V;ENSP00000422202:G149V	ENSP00000260184:G149V	G	-	2	0	DDX60L	169619585	1.000000	0.71417	0.254000	0.24359	0.062000	0.15995	2.402000	0.44521	0.044000	0.15775	0.467000	0.42956	GGC	.		0.383	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	
NEK1	4750	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	170506532	170506532	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:170506532C>A	ENST00000439128.2	-	9	1415	c.775G>T	c.(775-777)Gcc>Tcc	p.A259S	NEK1_ENST00000512193.1_Missense_Mutation_p.A259S|NEK1_ENST00000510533.1_Missense_Mutation_p.A259S|NEK1_ENST00000511633.1_Missense_Mutation_p.A259S|NEK1_ENST00000507142.1_Missense_Mutation_p.A259S	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	259					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATGCGTTTGGCTATAAAACCT	0.383																																					p.A259S		.											.	NEK1-361	0			c.G775T						.						77.0	73.0	74.0					4																	170506532		1832	4084	5916	SO:0001583	missense	4750	exon10			GTTTGGCTATAAA	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.775G>T	4.37:g.170506532C>A	ENSP00000408020:p.Ala259Ser	126	0		90	17	NM_001199399	0	0	0	0	0	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.12|15.12	2.738335|2.738335	0.49045|0.49045	.|.	.|.	ENSG00000137601|ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193|ENST00000505119	T;T;T;T;T|.	0.24538|.	1.85;1.85;1.85;1.85;1.85|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Protein kinase-like domain (1);|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.63850|0.63850	0.2546|0.2546	L|L	0.49350|0.49350	1.555|1.555	0.45979|0.45979	D|D	0.998791|0.998791	B;B;P;B;P;B|.	0.44986|.	0.03;0.415;0.529;0.415;0.847;0.291|.	B;B;B;B;B;B|.	0.39971|.	0.059;0.161;0.315;0.202;0.276;0.099|.	T|T	0.59279|0.59279	-0.7484|-0.7484	10|5	0.29301|.	T|.	0.29|.	.|.	14.8799|14.8799	0.70525|0.70525	0.1435:0.8565:0.0:0.0|0.1435:0.8565:0.0:0.0	.|.	259;259;259;259;259;259|.	Q96PY6-5;Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6|.	.;.;.;.;.;NEK1_HUMAN|.	S|I	259|40	ENSP00000408020:A259S;ENSP00000423332:A259S;ENSP00000427653:A259S;ENSP00000424757:A259S;ENSP00000424938:A259S|.	ENSP00000408020:A259S|.	A|S	-|-	1|2	0|0	NEK1|NEK1	170743107|170743107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.206000|2.206000	0.42779|0.42779	2.756000|2.756000	0.94617|0.94617	0.591000|0.591000	0.81541|0.81541	GCC|AGC	.		0.383	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		
GALNTL6	442117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	173734869	173734869	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:173734869T>C	ENST00000506823.1	+	7	1575	c.918T>C	c.(916-918)ccT>ccC	p.P306P	GALNTL6_ENST00000508122.1_Silent_p.P289P	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	306	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCAGCGACCCTTTTGAGTGAG	0.537																																					p.P306P		.											.	GALNTL6-137	0			c.T918C						.						42.0	43.0	43.0					4																	173734869		2203	4300	6503	SO:0001819	synonymous_variant	442117	exon7			CGACCCTTTTGAG		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.918T>C	4.37:g.173734869T>C		84	0		73	23	NM_001034845	0	0	0	0	0	Q2L4S6	Silent	SNP	ENST00000506823.1	37	CCDS34104.1																																																																																			.		0.537	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
WDR17	116966	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	177098263	177098263	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:177098263T>A	ENST00000280190.4	+	29	3777	c.3621T>A	c.(3619-3621)tcT>tcA	p.S1207S	WDR17_ENST00000507824.2_Silent_p.S1182S|WDR17_ENST00000508596.1_Silent_p.S1168S|WDR17_ENST00000393643.2_Silent_p.S1183S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1207										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AATATCTTTCTGAGGAATTGG	0.363																																					p.S1207S		.											.	WDR17-95	0			c.T3621A						.						66.0	68.0	67.0					4																	177098263		2203	4299	6502	SO:0001819	synonymous_variant	116966	exon29			TCTTTCTGAGGAA	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3621T>A	4.37:g.177098263T>A		58	0		49	14	NM_170710	0	0	0	0	0	E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	2.700	-0.271221	0.05716	.	.	ENSG00000150627	ENST00000443118	.	.	.	5.85	0.247	0.15521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.3296	5.6622	0.17674	0.0:0.2922:0.132:0.5759	.	.	.	.	R	442	.	.	X	+	1	0	WDR17	177335257	0.942000	0.31987	0.999000	0.59377	0.136000	0.21042	-0.068000	0.11561	0.115000	0.18071	-0.426000	0.05927	TGA	.		0.363	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
TENM3	55714	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	183659684	183659684	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:183659684G>T	ENST00000511685.1	+	18	3489	c.3366G>T	c.(3364-3366)ctG>ctT	p.L1122L	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.L1122L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1122					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATCACGTGCTGGATGTACAGA	0.438																																					p.L1122L		.											.	.	0			c.G3366T						.						180.0	172.0	175.0					4																	183659684		1980	4160	6140	SO:0001819	synonymous_variant	55714	exon17			CGTGCTGGATGTA	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3366G>T	4.37:g.183659684G>T		159	1		158	35	NM_001080477	0	0	0	0	0	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																			.		0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
MTNR1A	4543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	187455197	187455197	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:187455197G>T	ENST00000307161.5	-	2	900	c.699C>A	c.(697-699)gaC>gaA	p.D233E	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	233					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AATTCCTGAAGTCCTGTGGTT	0.493																																					p.D233E		.											.	MTNR1A-524	0			c.C699A						.						138.0	147.0	144.0					4																	187455197		2203	4300	6503	SO:0001583	missense	4543	exon2			CCTGAAGTCCTGT		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.699C>A	4.37:g.187455197G>T	ENSP00000302811:p.Asp233Glu	230	0		219	62	NM_005958	0	0	0	0	0	A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	G	8.366	0.834221	0.16820	.	.	ENSG00000168412	ENST00000307161	T	0.67523	-0.27	4.96	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	L	0.29908	0.895	0.49483	D	0.999797	P	0.36465	0.554	B	0.38225	0.268	T	0.25676	-1.0125	10	0.27785	T	0.31	-28.4746	8.56	0.33505	0.3712:0.0:0.6287:0.0	.	233	P48039	MTR1A_HUMAN	E	233	ENSP00000302811:D233E	ENSP00000302811:D233E	D	-	3	2	MTNR1A	187692191	1.000000	0.71417	0.995000	0.50966	0.481000	0.33189	2.543000	0.45752	-0.068000	0.12953	-0.136000	0.14681	GAC	.		0.493	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1		
MTNR1A	4543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	187455239	187455239	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:187455239C>A	ENST00000307161.5	-	2	858	c.657G>T	c.(655-657)caG>caT	p.Q219H	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	219					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GTTTCACCCTCTGTCTGACCT	0.483																																					p.Q219H		.											.	MTNR1A-524	0			c.G657T						.						146.0	151.0	150.0					4																	187455239		2203	4300	6503	SO:0001583	missense	4543	exon2			CACCCTCTGTCTG		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.657G>T	4.37:g.187455239C>A	ENSP00000302811:p.Gln219His	253	0		236	73	NM_005958	0	0	0	0	0	A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	0.872	-0.731533	0.03135	.	.	ENSG00000168412	ENST00000307161	T	0.38240	1.15	4.96	-1.59	0.08453	GPCR, rhodopsin-like superfamily (1);	0.246391	0.40554	N	0.001065	T	0.08088	0.0202	N	0.00996	-1.065	0.09310	N	0.999997	B	0.02656	0.0	B	0.06405	0.002	T	0.20672	-1.0268	10	0.22109	T	0.4	-0.9065	1.2852	0.02049	0.1253:0.2711:0.2493:0.3543	.	219	P48039	MTR1A_HUMAN	H	219	ENSP00000302811:Q219H	ENSP00000302811:Q219H	Q	-	3	2	MTNR1A	187692233	0.073000	0.21202	0.092000	0.20876	0.074000	0.17049	0.141000	0.16076	-0.096000	0.12329	-0.150000	0.13652	CAG	.		0.483	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1		
FAT1	2195	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	187541066	187541066	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:187541066C>A	ENST00000441802.2	-	10	6883	c.6674G>T	c.(6673-6675)aGc>aTc	p.S2225I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2225	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTGAACTGGCTGAAAGGGTC	0.527										HNSCC(5;0.00058)																											p.S2225I	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.G6674T						.						174.0	178.0	177.0					4																	187541066		2021	4177	6198	SO:0001583	missense	2195	exon10			AACTGGCTGAAAG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6674G>T	4.37:g.187541066C>A	ENSP00000406229:p.Ser2225Ile	173	2		128	35	NM_005245	0	0	0	0	0		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	3.623	-0.077223	0.07184	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.62232	0.04	5.05	3.29	0.37713	Cadherin (4);Cadherin-like (1);	0.189869	0.56097	D	0.000040	T	0.68540	0.3012	M	0.62088	1.915	0.33117	D	0.541292	P	0.50066	0.931	P	0.58077	0.832	T	0.74864	-0.3519	10	0.44086	T	0.13	.	8.3897	0.32520	0.0:0.6883:0.0:0.3117	.	2225	Q14517	FAT1_HUMAN	I	2225;2227	ENSP00000406229:S2225I	ENSP00000260147:S2227I	S	-	2	0	FAT1	187778060	1.000000	0.71417	0.991000	0.47740	0.019000	0.09904	0.947000	0.29082	1.353000	0.45828	-0.150000	0.13652	AGC	.		0.527	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
TRIML1	339976	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	189068073	189068073	+	Silent	SNP	C	C	A	rs374096380		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:189068073C>A	ENST00000332517.3	+	6	1094	c.954C>A	c.(952-954)ccC>ccA	p.P318P	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	318	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P318P(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGCAGCTACCCGACAACCCGG	0.547																																					p.P318P	Melanoma(31;213 1036 16579 23968 32372)	.											.	TRIML1-156	1	Substitution - coding silent(1)	lung(1)	c.C954A						.						119.0	112.0	114.0					4																	189068073		2203	4300	6503	SO:0001819	synonymous_variant	339976	exon6			GCTACCCGACAAC	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.954C>A	4.37:g.189068073C>A		197	0		179	57	NM_178556	0	0	0	0	0	Q96BE5	Silent	SNP	ENST00000332517.3	37	CCDS3851.1																																																																																			.		0.547	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
IRX4	50805	ucsc.edu;bcgsc.ca	37	5	1879752	1879752	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:1879752T>C	ENST00000505790.1	-	5	1058	c.602A>G	c.(601-603)aAg>aGg	p.K201R	IRX4_ENST00000513692.1_Missense_Mutation_p.K201R|IRX4_ENST00000231357.2_Missense_Mutation_p.K201R|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	201					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GTTCTCCTTCTTGAGGCGCCG	0.657																																					p.K201R		.											.	IRX4-226	0			c.A602G						.						85.0	75.0	78.0					5																	1879752		2203	4300	6503	SO:0001583	missense	50805	exon4			TCCTTCTTGAGGC	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.602A>G	5.37:g.1879752T>C	ENSP00000423161:p.Lys201Arg	156	3		285	94	NM_016358	0	0	0	0	0	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368575	0.82463	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	D;D;D	0.84660	-1.88;-1.88;-1.88	4.55	4.55	0.56014	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89870	0.6840	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.90248	0.4291	10	0.56958	D	0.05	-17.8676	12.8941	0.58089	0.0:0.0:0.0:1.0	.	201	P78413	IRX4_HUMAN	R	201	ENSP00000231357:K201R;ENSP00000423161:K201R;ENSP00000424235:K201R	ENSP00000231357:K201R	K	-	2	0	IRX4	1932752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.585000	0.82584	1.680000	0.50976	0.379000	0.24179	AAG	.		0.657	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358	
ICE1	23379	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	5457693	5457693	+	Missense_Mutation	SNP	G	G	T	rs76783275	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:5457693G>T	ENST00000296564.7	+	12	1162	c.940G>T	c.(940-942)Ggt>Tgt	p.G314C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		314					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCATCGTGACGGTGGTAGTAC	0.378																																					p.G314C		.											.	KIAA0947-48	0			c.G940T						.						130.0	127.0	128.0					5																	5457693		1907	4121	6028	SO:0001583	missense	23379	exon12			CGTGACGGTGGTA																												ENST00000296564.7:c.940G>T	5.37:g.5457693G>T	ENSP00000296564:p.Gly314Cys	193	0		185	61	NM_015325	0	0	0	0	0	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102813	0.37145	.	.	ENSG00000164151	ENST00000296564	T	0.10099	2.91	5.02	-1.43	0.08884	.	1.781990	0.02877	N	0.132380	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	P	0.43857	0.819	B	0.37387	0.248	T	0.13656	-1.0501	10	0.56958	D	0.05	0.3396	2.9456	0.05845	0.2405:0.1221:0.5127:0.1246	.	314	Q9Y2F5	K0947_HUMAN	C	314	ENSP00000296564:G314C	ENSP00000296564:G314C	G	+	1	0	KIAA0947	5510693	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.183000	0.09712	-0.720000	0.04935	-1.175000	0.01729	GGT	G|0.986;A|0.014		0.378	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
ICE1	23379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	5460966	5460966	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:5460966G>T	ENST00000296564.7	+	13	1741	c.1519G>T	c.(1519-1521)Ggt>Tgt	p.G507C		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		507					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACTCACTCGAGGTCTATGCAT	0.443																																					p.G507C		.											.	KIAA0947-48	0			c.G1519T						.						104.0	110.0	108.0					5																	5460966		1980	4145	6125	SO:0001583	missense	23379	exon13			ACTCGAGGTCTAT																												ENST00000296564.7:c.1519G>T	5.37:g.5460966G>T	ENSP00000296564:p.Gly507Cys	211	0		216	78	NM_015325	0	0	0	0	0	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554958	0.45487	.	.	ENSG00000164151	ENST00000296564	T	0.09911	2.93	4.64	-4.91	0.03085	.	2.921640	0.00888	N	0.002212	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	P	0.46327	0.876	B	0.43301	0.415	T	0.29119	-1.0022	10	0.56958	D	0.05	-0.2065	6.838	0.23947	0.2774:0.0:0.5671:0.1554	.	507	Q9Y2F5	K0947_HUMAN	C	507	ENSP00000296564:G507C	ENSP00000296564:G507C	G	+	1	0	KIAA0947	5513966	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.590000	0.05760	-0.651000	0.05415	0.305000	0.20034	GGT	.		0.443	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
ICE1	23379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	5462358	5462358	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:5462358A>T	ENST00000296564.7	+	13	3133	c.2911A>T	c.(2911-2913)Att>Ttt	p.I971F		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		971					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACCAAGACATTGTGAGAGA	0.468																																					p.I971F		.											.	KIAA0947-48	0			c.A2911T						.						26.0	28.0	27.0					5																	5462358		1997	4196	6193	SO:0001583	missense	23379	exon13			CAAGACATTGTGA																												ENST00000296564.7:c.2911A>T	5.37:g.5462358A>T	ENSP00000296564:p.Ile971Phe	81	0		86	32	NM_015325	0	0	0	0	0	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	a	13.02	2.113705	0.37339	.	.	ENSG00000164151	ENST00000296564	T	0.09817	2.94	4.35	-8.69	0.00855	.	4.117930	0.00725	N	0.000916	T	0.05090	0.0136	N	0.19112	0.55	0.09310	N	1	B	0.33135	0.399	B	0.26416	0.069	T	0.19844	-1.0293	10	0.38643	T	0.18	5.2711	3.6464	0.08187	0.1575:0.2481:0.4711:0.1233	.	971	Q9Y2F5	K0947_HUMAN	F	971	ENSP00000296564:I971F	ENSP00000296564:I971F	I	+	1	0	KIAA0947	5515358	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-1.620000	0.02046	-1.696000	0.01421	0.378000	0.23410	ATT	.		0.468	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
ICE1	23379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	5466585	5466585	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:5466585C>G	ENST00000296564.7	+	14	6253	c.6031C>G	c.(6031-6033)Cgt>Ggt	p.R2011G		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2011					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GGAAAGAGCTCGTTTGTTTTG	0.388																																					p.R2011G		.											.	KIAA0947-48	0			c.C6031G						.						163.0	150.0	154.0					5																	5466585		1863	4086	5949	SO:0001583	missense	23379	exon14			AGAGCTCGTTTGT																												ENST00000296564.7:c.6031C>G	5.37:g.5466585C>G	ENSP00000296564:p.Arg2011Gly	125	0		105	13	NM_015325	0	0	0	0	0	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690685	0.88735	.	.	ENSG00000164151	ENST00000296564	T	0.20069	2.1	5.66	5.66	0.87406	.	.	.	.	.	T	0.44705	0.1306	L	0.56769	1.78	0.48975	D	0.999738	D	0.71674	0.998	D	0.79108	0.992	T	0.28427	-1.0044	9	0.87932	D	0	-8.9949	17.2442	0.87022	0.0:1.0:0.0:0.0	.	2011	Q9Y2F5	K0947_HUMAN	G	2011	ENSP00000296564:R2011G	ENSP00000296564:R2011G	R	+	1	0	KIAA0947	5519585	1.000000	0.71417	0.944000	0.38274	0.993000	0.82548	6.880000	0.75578	2.675000	0.91044	0.557000	0.71058	CGT	.		0.388	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
SEMA5A	9037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	9154783	9154783	+	Missense_Mutation	SNP	C	C	A	rs138343991		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:9154783C>A	ENST00000382496.5	-	12	1963	c.1298G>T	c.(1297-1299)cGg>cTg	p.R433L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	433	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGGGGTACCCGCACTTTCTT	0.512																																					p.R433L		.											.	SEMA5A-91	0			c.G1298T						.						88.0	86.0	87.0					5																	9154783		2203	4300	6503	SO:0001583	missense	9037	exon12			GGTACCCGCACTT	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1298G>T	5.37:g.9154783C>A	ENSP00000371936:p.Arg433Leu	272	0		377	106	NM_003966	0	0	0	0	0	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	7.813	0.716140	0.15306	.	.	ENSG00000112902	ENST00000382496	T	0.19669	2.13	5.59	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.062767	0.64402	D	0.000003	T	0.02571	0.0078	N	0.00014	-2.9	0.42698	D	0.993602	B	0.02656	0.0	B	0.04013	0.001	T	0.43327	-0.9398	10	0.06625	T	0.88	.	10.3509	0.43934	0.3223:0.6777:0.0:0.0	.	433	Q13591	SEM5A_HUMAN	L	433	ENSP00000371936:R433L	ENSP00000371936:R433L	R	-	2	0	SEMA5A	9207783	1.000000	0.71417	0.998000	0.56505	0.364000	0.29643	6.383000	0.73172	2.646000	0.89796	0.591000	0.81541	CGG	C|0.999;T|0.000		0.512	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
SEMA5A	9037	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	9202086	9202086	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:9202086C>A	ENST00000382496.5	-	9	1578	c.913G>T	c.(913-915)Ggc>Tgc	p.G305C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	305	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTAAAGATGCCATAGATCAAA	0.433																																					p.G305C		.											.	SEMA5A-91	0			c.G913T						.						63.0	62.0	62.0					5																	9202086		2203	4300	6503	SO:0001583	missense	9037	exon9			AGATGCCATAGAT	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.913G>T	5.37:g.9202086C>A	ENSP00000371936:p.Gly305Cys	259	1		269	87	NM_003966	0	0	0	0	0	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732384	0.89482	.	.	ENSG00000112902	ENST00000382496	T	0.19394	2.15	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.050126	0.85682	D	0.000000	T	0.58308	0.2113	M	0.93808	3.46	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.68652	-0.5352	10	0.87932	D	0	.	17.6206	0.88080	0.0:1.0:0.0:0.0	.	305	Q13591	SEM5A_HUMAN	C	305	ENSP00000371936:G305C	ENSP00000371936:G305C	G	-	1	0	SEMA5A	9255086	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.290000	0.78711	2.760000	0.94817	0.655000	0.94253	GGC	.		0.433	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
CTNND2	1501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	11364815	11364815	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:11364815C>G	ENST00000304623.8	-	8	1554	c.1365G>C	c.(1363-1365)acG>acC	p.T455T	CTNND2_ENST00000458100.2_Silent_p.T22T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.T118T|CTNND2_ENST00000359640.2_Silent_p.T455T|CTNND2_ENST00000511377.1_Silent_p.T364T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	455					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACCTGTGCTCGTGCGGTAGG	0.607																																					p.T455T		.											.	CTNND2-293	0			c.G1365C						.						27.0	31.0	30.0					5																	11364815		2203	4300	6503	SO:0001819	synonymous_variant	1501	exon8			TGTGCTCGTGCGG	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1365G>C	5.37:g.11364815C>G		73	0		61	30	NM_001332	0	0	0	0	0	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																			.		0.607	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
CTNND2	1501	broad.mit.edu;bcgsc.ca	37	5	11397217	11397217	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:11397217G>A	ENST00000304623.8	-	6	727	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Silent_p.L180L|CTNND2_ENST00000511377.1_Silent_p.L89L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	180					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTTTCCCCCAGGGCCAGGGTC	0.612																																					p.L180L		.											.	CTNND2-293	0			c.C538T						.						91.0	95.0	94.0					5																	11397217		2203	4300	6503	SO:0001819	synonymous_variant	1501	exon6			CCCCCAGGGCCAG	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.538C>T	5.37:g.11397217G>A		91	2		106	35	NM_001332	0	0	0	0	0	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																			.		0.612	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	13753344	13753344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:13753344G>A	ENST00000265104.4	-	63	10974	c.10870C>T	c.(10870-10872)Cag>Tag	p.Q3624*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3624	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAATTACCTGGAGTTCATTT	0.338									Kartagener syndrome																												p.Q3624X		.											.	DNAH5-182	0			c.C10870T						.						51.0	48.0	49.0					5																	13753344		2203	4300	6503	SO:0001587	stop_gained	1767	exon63	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TTACCTGGAGTTC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10870C>T	5.37:g.13753344G>A	ENSP00000265104:p.Gln3624*	59	0		67	19	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	53	20.985866	0.99936	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.76	5.76	0.90799	.	0.053929	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	.	.	.	X	3624	.	ENSP00000265104:Q3624X	Q	-	1	0	DNAH5	13806344	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.358000	0.97109	2.880000	0.98712	0.650000	0.86243	CAG	.		0.338	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	13841987	13841987	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:13841987G>C	ENST00000265104.4	-	33	5402	c.5298C>G	c.(5296-5298)tcC>tcG	p.S1766S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1766	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTCTTGAGAGGAAATTGACA	0.328									Kartagener syndrome																												p.S1766S		.											.	DNAH5-182	0			c.C5298G						.						89.0	87.0	88.0					5																	13841987		2203	4300	6503	SO:0001819	synonymous_variant	1767	exon33	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TTGAGAGGAAATT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5298C>G	5.37:g.13841987G>C		67	0		62	24	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			.		0.328	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
FBXL7	23194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	15928111	15928111	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:15928111C>A	ENST00000504595.1	+	3	721	c.240C>A	c.(238-240)atC>atA	p.I80I	FBXL7_ENST00000510662.1_Silent_p.I33I|FBXL7_ENST00000329673.7_Silent_p.I68I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	80					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGTCCTCCATCACCGGGGAGA	0.662																																					p.I80I		.											.	FBXL7-228	0			c.C240A						.						44.0	54.0	51.0					5																	15928111		2065	4189	6254	SO:0001819	synonymous_variant	23194	exon3			CTCCATCACCGGG	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.240C>A	5.37:g.15928111C>A		87	0		115	40	NM_012304	0	0	0	0	0	B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	CCDS54833.1																																																																																			.		0.662	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304	
FBXL7	23194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	15928344	15928344	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:15928344G>T	ENST00000504595.1	+	3	954	c.473G>T	c.(472-474)cGc>cTc	p.R158L	FBXL7_ENST00000510662.1_Missense_Mutation_p.R111L|FBXL7_ENST00000329673.7_Missense_Mutation_p.R146L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	158					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGGACTATCCGCCTGACGGGC	0.652																																					p.R158L		.											.	FBXL7-228	0			c.G473T						.						18.0	23.0	21.0					5																	15928344		2082	4207	6289	SO:0001583	missense	23194	exon3			CTATCCGCCTGAC	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.473G>T	5.37:g.15928344G>T	ENSP00000423630:p.Arg158Leu	75	0		148	50	NM_012304	0	0	0	0	0	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746102	0.69418	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.40225	1.04;1.04;1.04	5.46	5.46	0.80206	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.47673	0.1458	M	0.71036	2.16	0.80722	D	1	P	0.40180	0.705	B	0.37989	0.262	T	0.53878	-0.8376	10	0.56958	D	0.05	.	19.3032	0.94151	0.0:0.0:1.0:0.0	.	158	Q9UJT9	FBXL7_HUMAN	L	158;111;146	ENSP00000423630:R158L;ENSP00000425184:R111L;ENSP00000329632:R146L	ENSP00000329632:R146L	R	+	2	0	FBXL7	15981344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.723000	0.68492	2.576000	0.86940	0.561000	0.74099	CGC	.		0.652	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304	
FBXL7	23194	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	15928373	15928373	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:15928373C>T	ENST00000504595.1	+	3	983	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	FBXL7_ENST00000510662.1_Missense_Mutation_p.R121C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R156C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	168					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAACGTGGACCGCGCCCTCAA	0.662																																					p.R168C		.											.	FBXL7-228	0			c.C502T						.						25.0	30.0	28.0					5																	15928373		2125	4232	6357	SO:0001583	missense	23194	exon3			GTGGACCGCGCCC	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.502C>T	5.37:g.15928373C>T	ENSP00000423630:p.Arg168Cys	120	1		195	70	NM_012304	0	0	0	0	0	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988113	0.74589	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.54071	0.59;0.59;0.59	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	P	0.58721	0.844	T	0.66248	-0.5971	10	0.59425	D	0.04	.	12.2645	0.54670	0.2874:0.7126:0.0:0.0	.	168	Q9UJT9	FBXL7_HUMAN	C	168;121;156	ENSP00000423630:R168C;ENSP00000425184:R121C;ENSP00000329632:R156C	ENSP00000329632:R156C	R	+	1	0	FBXL7	15981373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.922000	0.63404	2.520000	0.84964	0.561000	0.74099	CGC	.		0.662	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304	
CDH18	1016	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	19473645	19473645	+	Missense_Mutation	SNP	C	C	A	rs140353037		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:19473645C>A	ENST00000507958.1	-	15	3053	c.2063G>T	c.(2062-2064)cGg>cTg	p.R688L	CDH18_ENST00000382275.1_Missense_Mutation_p.R688L|CDH18_ENST00000274170.4_Missense_Mutation_p.R688L|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	688					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATATCCCTCCGGTACTTGAG	0.498																																					p.R688L		.											.	CDH18-159	0			c.G2063T						.						165.0	146.0	153.0					5																	19473645		2203	4300	6503	SO:0001583	missense	1016	exon13			TCCCTCCGGTACT	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2063G>T	5.37:g.19473645C>A	ENSP00000425093:p.Arg688Leu	176	0		157	59	NM_004934	0	0	0	0	0	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197576	0.94997	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.78595	-1.19;-1.19;-1.19	6.01	6.01	0.97437	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.87849	0.6281	M	0.73598	2.24	0.58432	D	0.999995	D	0.65815	0.995	D	0.68943	0.961	D	0.86435	0.1763	9	.	.	.	.	19.085	0.93200	0.0:1.0:0.0:0.0	.	688	Q13634	CAD18_HUMAN	L	688	ENSP00000371710:R688L;ENSP00000425093:R688L;ENSP00000274170:R688L	.	R	-	2	0	CDH18	19509402	1.000000	0.71417	0.963000	0.40424	0.957000	0.61999	7.813000	0.86123	2.861000	0.98227	0.650000	0.86243	CGG	C|1.000;T|0.000		0.498	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH12	1010	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	21755941	21755941	+	Silent	SNP	C	C	G	rs201811162	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:21755941C>G	ENST00000382254.1	-	14	2730	c.1644G>C	c.(1642-1644)gcG>gcC	p.A548A	CDH12_ENST00000504376.2_Silent_p.A548A|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Silent_p.A508A|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A548A(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTCAATCCCCGCTGTGTTGT	0.428										HNSCC(59;0.17)																											p.A548A		.											.	CDH12-92	1	Substitution - coding silent(1)	lung(1)	c.G1644C						.						94.0	88.0	90.0					5																	21755941		2203	4300	6503	SO:0001819	synonymous_variant	1010	exon14			AATCCCCGCTGTG	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1644G>C	5.37:g.21755941C>G		170	1		140	42	NM_004061	0	0	0	0	0	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	CCDS3890.1																																																																																			C|0.999;T|0.001		0.428	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
CDH12	1010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	21783535	21783535	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:21783535G>T	ENST00000382254.1	-	11	2411	c.1325C>A	c.(1324-1326)gCc>gAc	p.A442D	CDH12_ENST00000504376.2_Missense_Mutation_p.A442D|CDH12_ENST00000522262.1_Missense_Mutation_p.A402D|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCATTAGTGGCGATGGTTCC	0.373										HNSCC(59;0.17)																											p.A442D		.											.	CDH12-92	0			c.C1325A						.						217.0	210.0	213.0					5																	21783535		2203	4300	6503	SO:0001583	missense	1010	exon11			TTAGTGGCGATGG	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1325C>A	5.37:g.21783535G>T	ENSP00000371689:p.Ala442Asp	88	0		95	32	NM_004061	0	0	0	0	0	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309981	0.60414	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.52526	0.66;0.66;0.66	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	0.048536	0.85682	D	0.000000	T	0.44095	0.1277	N	0.22421	0.69	0.58432	D	0.999998	B;P	0.47484	0.249;0.896	B;P	0.46510	0.281;0.519	T	0.29912	-0.9996	10	0.37606	T	0.19	.	19.4807	0.95008	0.0:0.0:1.0:0.0	.	402;442	B7Z2U6;P55289	.;CAD12_HUMAN	D	442;442;402	ENSP00000423577:A442D;ENSP00000371689:A442D;ENSP00000428786:A402D	ENSP00000371689:A442D	A	-	2	0	CDH12	21819292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.360000	0.97119	2.597000	0.87782	0.655000	0.94253	GCC	.		0.373	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
CDH12	1010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	21854885	21854885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:21854885G>A	ENST00000382254.1	-	7	1627	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q181*|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	181	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GCCTTGACCTGGAGTACATAT	0.418										HNSCC(59;0.17)																											p.Q181X		.											.	CDH12-92	0			c.C541T						.						107.0	99.0	102.0					5																	21854885		2203	4299	6502	SO:0001587	stop_gained	1010	exon7			TGACCTGGAGTAC	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.541C>T	5.37:g.21854885G>A	ENSP00000371689:p.Gln181*	173	0		172	58	NM_004061	0	0	0	0	0	B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	45	11.637091	0.99585	.	.	ENSG00000154162	ENST00000504376;ENST00000382254	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.937	0.92589	0.0:0.0:1.0:0.0	.	.	.	.	X	181	.	ENSP00000371689:Q181X	Q	-	1	0	CDH12	21890642	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.579000	0.82511	2.547000	0.85894	0.650000	0.86243	CAG	.		0.418	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
PRDM9	56979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	23524575	23524575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:23524575C>A	ENST00000296682.3	+	10	1265	c.1083C>A	c.(1081-1083)taC>taA	p.Y361*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	361					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.Y361*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGATGAATACGGCCAGGAAC	0.512										HNSCC(3;0.000094)																											p.Y361X		.											.	PRDM9-139	2	Substitution - Nonsense(2)	lung(2)	c.C1083A						.						126.0	126.0	126.0					5																	23524575		1932	4133	6065	SO:0001587	stop_gained	56979	exon10			TGAATACGGCCAG	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1083C>A	5.37:g.23524575C>A	ENSP00000296682:p.Tyr361*	225	0		255	92	NM_020227	0	0	0	0	0	B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	c	15.55	2.866628	0.51588	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	.	.	.	4.23	-8.45	0.00946	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1245	14.1838	0.65592	0.0:0.2525:0.0:0.7475	.	.	.	.	X	361;155	.	ENSP00000253473:Y155X	Y	+	3	2	PRDM9	23560332	0.285000	0.24296	0.678000	0.29963	0.068000	0.16541	-1.368000	0.02580	-2.276000	0.00678	-2.771000	0.00119	TAC	.		0.512	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDM9	56979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	23526532	23526532	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:23526532C>A	ENST00000296682.3	+	11	1517	c.1335C>A	c.(1333-1335)caC>caA	p.H445Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	445					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGATCCACACAGCCGTAATG	0.478										HNSCC(3;0.000094)																											p.H445Q		.											.	PRDM9-139	0			c.C1335A						.						71.0	70.0	70.0					5																	23526532		2203	4300	6503	SO:0001583	missense	56979	exon11			TCCACACAGCCGT	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1335C>A	5.37:g.23526532C>A	ENSP00000296682:p.His445Gln	101	0		113	35	NM_020227	0	0	0	0	0	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.171761	0.00315	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08102	3.13	2.71	-1.7	0.08159	.	1.698360	0.03585	N	0.230805	T	0.05135	0.0137	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38478	-0.9659	10	0.15499	T	0.54	3.1939	4.1281	0.10136	0.0:0.4505:0.1783:0.3711	.	445	Q9NQV7	PRDM9_HUMAN	Q	445;239	ENSP00000296682:H445Q	ENSP00000253473:H239Q	H	+	3	2	PRDM9	23562289	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.805000	0.01737	-0.461000	0.06993	0.505000	0.49811	CAC	.		0.478	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDM9	56979	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	23527437	23527437	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:23527437C>A	ENST00000296682.3	+	11	2422	c.2240C>A	c.(2239-2241)cCc>cAc	p.P747H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	747					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.P747Q(1)|p.P747H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGAGAAGCCCTATGTCTGC	0.587										HNSCC(3;0.000094)																											p.P747H		.											.	PRDM9-139	2	Substitution - Missense(2)	lung(2)	c.C2240A						.						39.0	53.0	49.0					5																	23527437		2113	4284	6397	SO:0001583	missense	56979	exon11			AGAAGCCCTATGT	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2240C>A	5.37:g.23527437C>A	ENSP00000296682:p.Pro747His	396	0		402	128	NM_020227	0	0	0	0	0	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693677	0.30052	.	.	ENSG00000164256	ENST00000296682	T	0.29397	1.57	3.0	3.0	0.34707	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57740	0.2074	M	0.88450	2.955	0.30926	N	0.727455	D	0.89917	1.0	D	0.65233	0.933	T	0.64054	-0.6497	9	0.87932	D	0	.	12.1633	0.54115	0.0:1.0:0.0:0.0	.	747	Q9NQV7	PRDM9_HUMAN	H	747	ENSP00000296682:P747H	ENSP00000296682:P747H	P	+	2	0	PRDM9	23563194	0.997000	0.39634	0.992000	0.48379	0.005000	0.04900	4.235000	0.58666	1.973000	0.57446	0.484000	0.47621	CCC	.		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
ADAMTS12	81792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	33576158	33576158	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:33576158C>A	ENST00000504830.1	-	19	4308		c.e19+1		ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAATGTCTTACCTCGCTCCAG	0.418										HNSCC(64;0.19)																											.		.											.	ADAMTS12-232	0			c.3972+1G>T						.						73.0	73.0	73.0					5																	33576158		2203	4300	6503	SO:0001630	splice_region_variant	81792	exon20			GTCTTACCTCGCT	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3972+1G>T	5.37:g.33576158C>A		88	0		95	36	NM_030955	0	0	0	0	0	A2RRN9|A5D6V6|Q6UWL3	Splice_Site	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601139	0.66332	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6476	0.95789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS12	33611915	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	4.805000	0.62561	2.653000	0.90120	0.655000	0.94253	.	.		0.418	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Intron
ADAMTS12	81792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	33576501	33576501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:33576501C>T	ENST00000504830.1	-	19	3965	c.3630G>A	c.(3628-3630)tgG>tgA	p.W1210*	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W1125*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1210	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGAAGGGTGGCCACCAGGACT	0.537										HNSCC(64;0.19)																											p.W1210X		.											.	ADAMTS12-232	0			c.G3630A						.						162.0	153.0	156.0					5																	33576501		2203	4300	6503	SO:0001587	stop_gained	81792	exon19			GGGTGGCCACCAG	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3630G>A	5.37:g.33576501C>T	ENSP00000422554:p.Trp1210*	164	0		210	81	NM_030955	0	0	0	0	0	A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	39	7.419319	0.98272	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.07	5.07	0.68467	.	0.980375	0.08414	N	0.949422	.	.	.	.	.	.	0.28201	N	0.927356	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	13.3163	0.60409	0.0:0.8413:0.1587:0.0	.	.	.	.	X	1210;1125	.	ENSP00000344847:W1125X	W	-	3	0	ADAMTS12	33612258	0.001000	0.12720	0.025000	0.17156	0.068000	0.16541	1.325000	0.33724	2.628000	0.89032	0.655000	0.94253	TGG	.		0.537	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	33658359	33658359	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:33658359G>T	ENST00000504830.1	-	7	1455	c.1120C>A	c.(1120-1122)Cgc>Agc	p.R374S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R374S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	374	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R374S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTACAACTGCGGTGAGGCTGA	0.507										HNSCC(64;0.19)																											p.R374S		.											.	ADAMTS12-232	1	Substitution - Missense(1)	lung(1)	c.C1120A						.						144.0	144.0	144.0					5																	33658359		2203	4300	6503	SO:0001583	missense	81792	exon7			AACTGCGGTGAGG	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1120C>A	5.37:g.33658359G>T	ENSP00000422554:p.Arg374Ser	194	0		224	80	NM_030955	0	0	0	0	0	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338048	0.81911	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.87334	-2.24;-2.24	6.17	5.28	0.74379	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.103576	0.64402	D	0.000004	D	0.92195	0.7525	M	0.65677	2.01	0.80722	D	1	P;D	0.71674	0.943;0.998	P;D	0.72338	0.706;0.977	D	0.92838	0.6286	10	0.72032	D	0.01	.	14.2657	0.66116	0.0:0.0:0.6053:0.3947	.	374;374	P58397-3;P58397	.;ATS12_HUMAN	S	374	ENSP00000422554:R374S;ENSP00000344847:R374S	ENSP00000344847:R374S	R	-	1	0	ADAMTS12	33694116	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	3.160000	0.50739	1.564000	0.49628	0.655000	0.94253	CGC	.		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	33751563	33751563	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:33751563C>A	ENST00000504830.1	-	3	915	c.580G>T	c.(580-582)Gtt>Ttt	p.V194F	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V194F|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.V194F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	194					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTCCTGTAAACGATGTGCGGG	0.458										HNSCC(64;0.19)																											p.V194F		.											.	ADAMTS12-232	0			c.G580T						.						151.0	148.0	149.0					5																	33751563		2203	4300	6503	SO:0001583	missense	81792	exon3			TGTAAACGATGTG	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.580G>T	5.37:g.33751563C>A	ENSP00000422554:p.Val194Phe	235	1		223	80	NM_030955	0	0	0	0	0	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386958	0.42308	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.10382	2.88;2.88;2.88	5.8	-8.86	0.00795	Peptidase M12B, propeptide (1);	1.080700	0.07024	N	0.827238	T	0.25494	0.0620	M	0.66939	2.045	0.20703	N	0.999869	P;P;P	0.52316	0.878;0.624;0.952	P;P;P	0.59115	0.464;0.476;0.852	T	0.53620	-0.8413	10	0.87932	D	0	.	18.004	0.89204	0.0:0.1325:0.0:0.8675	.	194;194;194	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	F	194	ENSP00000422554:V194F;ENSP00000344847:V194F;ENSP00000421638:V194F	ENSP00000344847:V194F	V	-	1	0	ADAMTS12	33787320	0.527000	0.26306	0.003000	0.11579	0.133000	0.20885	-0.852000	0.04308	-2.225000	0.00724	-0.244000	0.11960	GTT	.		0.458	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
RXFP3	51289	hgsc.bcm.edu;mdanderson.org	37	5	33938186	33938186	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:33938186C>T	ENST00000330120.3	+	1	1696	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	447					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ACCTGCTCTACTACCCACCTG	0.736																																					p.Y447Y		.											.	RXFP3-91	0			c.C1341T						.						14.0	17.0	16.0					5																	33938186		2167	4239	6406	SO:0001819	synonymous_variant	51289	exon1			GCTCTACTACCCA	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1341C>T	5.37:g.33938186C>T		8	0		78	28	NM_016568	0	0	0	0	0	Q14DA5	Silent	SNP	ENST00000330120.3	37	CCDS3900.1																																																																																			.		0.736	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568	
UGT3A1	133688	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	35968210	35968210	+	Nonsense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:35968210G>C	ENST00000274278.3	-	3	579	c.222C>G	c.(220-222)taC>taG	p.Y74*	UGT3A1_ENST00000333811.4_Nonsense_Mutation_p.Y20*|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Nonsense_Mutation_p.Y40*|UGT3A1_ENST00000503189.1_Nonsense_Mutation_p.Y74*	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	74						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATAACTTGGTATGATTTTT	0.303																																					p.Y74X		.											.	UGT3A1-92	0			c.C222G						.						81.0	82.0	82.0					5																	35968210		2203	4297	6500	SO:0001587	stop_gained	133688	exon3			AACTTGGTATGAT		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.222C>G	5.37:g.35968210G>C	ENSP00000274278:p.Tyr74*	57	0		67	25	NM_152404	0	0	0	0	0	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Nonsense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329449	0.95733	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	.	.	.	2.7	1.79	0.24919	.	1.986640	0.04856	U	0.443196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	6.2128	0.20638	0.1629:0.0:0.8371:0.0	.	.	.	.	X	74;74;40;20	.	ENSP00000274278:Y74X	Y	-	3	2	UGT3A1	36003967	0.000000	0.05858	0.006000	0.13384	0.543000	0.35085	-0.881000	0.04179	0.399000	0.25367	0.455000	0.32223	TAC	.		0.303	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	
NIPBL	25836	broad.mit.edu	37	5	37000491	37000491	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:37000491T>C	ENST00000282516.8	+	12	3820	c.3321T>C	c.(3319-3321)caT>caC	p.H1107H	NIPBL_ENST00000448238.2_Silent_p.H1107H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1107					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGAAACGACATAAAAAAGATG	0.383																																					p.H1107H		.											.	NIPBL-293	0			c.T3321C						.						90.0	92.0	91.0					5																	37000491		2203	4300	6503	SO:0001819	synonymous_variant	25836	exon12			ACGACATAAAAAA	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3321T>C	5.37:g.37000491T>C		94	1		81	10	NM_015384	0	0	0	0	0	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																			.		0.383	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
C5orf42	65250	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	37107729	37107729	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:37107729G>C	ENST00000508244.1	-	51	9662	c.9569C>G	c.(9568-9570)tCt>tGt	p.S3190C	C5orf42_ENST00000274258.7_Missense_Mutation_p.S2088C|C5orf42_ENST00000425232.2_Missense_Mutation_p.S3190C			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3190						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCAGTGGACAGACAGGCCCTG	0.547																																					p.S3190C		.											.	C5orf42-94	0			c.C9569G						.						41.0	33.0	36.0					5																	37107729		2203	4300	6503	SO:0001583	missense	65250	exon52			TGGACAGACAGGC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9569C>G	5.37:g.37107729G>C	ENSP00000421690:p.Ser3190Cys	262	1		348	55	NM_023073	0	0	0	0	0	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230393	0.79688	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.28	2.39	0.29439	.	0.368951	0.22894	N	0.054349	T	0.54743	0.1877	L	0.59436	1.845	0.09310	N	1	B;D	0.71674	0.02;0.998	B;P	0.61874	0.025;0.895	T	0.41822	-0.9487	10	0.87932	D	0	.	4.9605	0.14063	0.1845:0.1744:0.6411:0.0	.	3190;2088	E9PH94;Q9H799	.;CE042_HUMAN	C	3190;3190;2088;2256	ENSP00000421690:S3190C;ENSP00000389014:S3190C;ENSP00000274258:S2088C;ENSP00000424223:S2256C	ENSP00000274258:S2088C	S	-	2	0	C5orf42	37143486	0.001000	0.12720	0.029000	0.17559	0.663000	0.39108	0.595000	0.24029	0.926000	0.37118	-0.140000	0.14226	TCT	.		0.547	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
EGFLAM	133584	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	38418309	38418309	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:38418309G>C	ENST00000354891.3	+	12	1982	c.1636G>C	c.(1636-1638)Gac>Cac	p.D546H	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D546H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D312H	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	546	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.			D -> G (in Ref. 2; CAH56137). {ECO:0000305}.	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)					GAGGAGAATTGACATGAGGCC	0.562																																					p.D546H	Colon(62;485 1295 3347 17454)	.											.	EGFLAM-187	0			c.G1636C						.						85.0	90.0	89.0					5																	38418309		2203	4300	6503	SO:0001583	missense	133584	exon12			AGAATTGACATGA	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.1636G>C	5.37:g.38418309G>C	ENSP00000346964:p.Asp546His	173	1		227	32	NM_001205301	0	0	0	0	0	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402595	0.83230	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	D;D;D	0.83075	-1.68;-1.68;-1.68	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.75615	2.305	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.937	D;D;P	0.87578	0.994;0.998;0.655	D	0.91397	0.5140	10	0.66056	D	0.02	-34.9614	20.0015	0.97412	0.0:0.0:1.0:0.0	.	312;546;546	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	H	546;546;312;312	ENSP00000346964:D546H;ENSP00000313084:D546H;ENSP00000337607:D312H	ENSP00000313084:D546H	D	+	1	0	EGFLAM	38454066	1.000000	0.71417	0.974000	0.42286	0.703000	0.40648	9.429000	0.97481	2.718000	0.92993	0.557000	0.71058	GAC	.		0.562	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
OSMR	9180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	38881777	38881777	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:38881777A>T	ENST00000274276.3	+	4	731	c.329A>T	c.(328-330)cAc>cTc	p.H110L	OSMR_ENST00000502536.1_Missense_Mutation_p.H110L	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	110					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGTGCCACACACTTTGTAAGA	0.468																																					p.H110L		.											.	OSMR-496	0			c.A329T						.						108.0	105.0	106.0					5																	38881777		2203	4300	6503	SO:0001583	missense	9180	exon4			CCACACACTTTGT	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.329A>T	5.37:g.38881777A>T	ENSP00000274276:p.His110Leu	113	0		111	46	NM_001168355	0	0	0	0	0	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478199	0.63849	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.64438	-0.1;-0.1	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	M	0.74881	2.28	0.47584	D	0.999463	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.79308	-0.1857	10	0.54805	T	0.06	.	12.5437	0.56186	1.0:0.0:0.0:0.0	.	110;110	Q99650;Q99650-2	OSMR_HUMAN;.	L	110	ENSP00000422023:H110L;ENSP00000274276:H110L	ENSP00000274276:H110L	H	+	2	0	OSMR	38917534	1.000000	0.71417	0.963000	0.40424	0.267000	0.26476	5.050000	0.64251	2.216000	0.71823	0.533000	0.62120	CAC	.		0.468	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999	
C9	735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	39308382	39308382	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:39308382C>A	ENST00000263408.4	-	8	1285	c.1190G>T	c.(1189-1191)gGa>gTa	p.G397V		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	397	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.G397V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AAATTCAGCTCCAACAGAGAT	0.383																																					p.G397V		.											.	C9-90	1	Substitution - Missense(1)	large_intestine(1)	c.G1190T						.						131.0	127.0	128.0					5																	39308382		2203	4300	6503	SO:0001583	missense	735	exon8			TCAGCTCCAACAG		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1190G>T	5.37:g.39308382C>A	ENSP00000263408:p.Gly397Val	203	0		223	77	NM_001737	0	0	0	0	0		Missense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	8.322	0.824601	0.16678	.	.	ENSG00000113600	ENST00000263408	T	0.32272	1.46	4.73	-9.46	0.00597	Membrane attack complex component/perforin (MACPF) domain (3);	2.344480	0.01281	N	0.009724	T	0.23249	0.0562	L	0.38175	1.15	0.09310	N	1	B	0.27416	0.178	B	0.28385	0.089	T	0.08700	-1.0709	10	0.35671	T	0.21	-0.4345	11.0625	0.47955	0.0:0.2029:0.1102:0.6869	.	397	P02748	CO9_HUMAN	V	397	ENSP00000263408:G397V	ENSP00000263408:G397V	G	-	2	0	C9	39344139	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.431000	0.02432	-2.845000	0.00333	-0.482000	0.04802	GGA	.		0.383	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		
PTGER4	5734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	40692043	40692043	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:40692043A>T	ENST00000302472.3	+	3	2054	c.1030A>T	c.(1030-1032)Atc>Ttc	p.I344F		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	344					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	AATAGAGAAGATCAAATGCCT	0.527																																					p.I344F		.											.	PTGER4-658	0			c.A1030T						.						71.0	75.0	74.0					5																	40692043		2203	4300	6503	SO:0001583	missense	5734	exon3			GAGAAGATCAAAT	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1030A>T	5.37:g.40692043A>T	ENSP00000302846:p.Ile344Phe	151	0		167	61	NM_000958	0	0	0	0	0	Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865593	0.71949	.	.	ENSG00000171522	ENST00000302472	T	0.34667	1.35	5.55	3.2	0.36748	.	0.060214	0.64402	D	0.000001	T	0.49184	0.1542	M	0.68952	2.095	0.58432	D	0.999997	D	0.63046	0.992	P	0.59357	0.856	T	0.41016	-0.9532	10	0.49607	T	0.09	-21.5227	8.5943	0.33705	0.7824:0.0:0.2176:0.0	.	344	P35408	PE2R4_HUMAN	F	344	ENSP00000302846:I344F	ENSP00000302846:I344F	I	+	1	0	PTGER4	40727800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.956000	0.49129	0.419000	0.25927	0.383000	0.25322	ATC	.		0.527	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958	
CARD6	84674	broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	40841514	40841514	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:40841514C>G	ENST00000254691.5	+	1	229	c.30C>G	c.(28-30)atC>atG	p.I10M	CARD6_ENST00000381677.3_Missense_Mutation_p.I10M	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	10	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCTCAGAGATCATAGAAAGAG	0.353																																					p.I10M		.											.	CARD6-230	0			c.C30G						.						54.0	56.0	55.0					5																	40841514		2203	4300	6503	SO:0001583	missense	84674	exon1			AGAGATCATAGAA	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.30C>G	5.37:g.40841514C>G	ENSP00000254691:p.Ile10Met	56	1		53	21	NM_032587	0	0	0	0	0	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546268	0.45383	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.20332	2.08;2.08	4.97	1.14	0.20703	DEATH-like (2);Caspase Recruitment (3);	0.110508	0.39544	N	0.001337	T	0.33847	0.0877	L	0.54323	1.7	0.09310	N	1	D	0.71674	0.998	D	0.71414	0.973	T	0.05241	-1.0897	10	0.72032	D	0.01	-6.6815	7.2089	0.25923	0.0:0.6237:0.0:0.3763	.	10	Q9BX69	CARD6_HUMAN	M	10	ENSP00000254691:I10M;ENSP00000371093:I10M	ENSP00000254691:I10M	I	+	3	3	CARD6	40877271	0.982000	0.34865	0.026000	0.17262	0.912000	0.54170	0.062000	0.14389	0.293000	0.22520	0.563000	0.77884	ATC	.		0.353	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
HCN1	348980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	45353216	45353216	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:45353216C>A	ENST00000303230.4	-	5	1420	c.1363G>T	c.(1363-1365)Gat>Tat	p.D455Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	455					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTCAGAGGATCATTGAGTTCA	0.348																																					p.D455Y		.											.	HCN1-91	0			c.G1363T						.						122.0	112.0	115.0					5																	45353216		2203	4296	6499	SO:0001583	missense	348980	exon5			GAGGATCATTGAG	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1363G>T	5.37:g.45353216C>A	ENSP00000307342:p.Asp455Tyr	59	0		62	23	NM_021072	0	0	0	0	0		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447969	0.84101	.	.	ENSG00000164588	ENST00000303230	D	0.96745	-4.11	5.97	5.97	0.96955	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000001	D	0.95191	0.8441	L	0.36672	1.1	0.80722	D	1	D	0.53312	0.959	P	0.46659	0.523	D	0.95387	0.8478	10	0.87932	D	0	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	455	O60741	HCN1_HUMAN	Y	455	ENSP00000307342:D455Y	ENSP00000307342:D455Y	D	-	1	0	HCN1	45388973	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.811000	0.86092	2.828000	0.97474	0.655000	0.94253	GAT	.		0.348	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
ITGA2	3673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	52368469	52368469	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:52368469G>T	ENST00000296585.5	+	19	2516	c.2373G>T	c.(2371-2373)gaG>gaT	p.E791D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	791					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACTGTGGTGAGGACGGACTTT	0.353																																					p.E791D		.											.	ITGA2-226	0			c.G2373T						.						85.0	75.0	78.0					5																	52368469		2202	4300	6502	SO:0001583	missense	3673	exon19			TGGTGAGGACGGA		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2373G>T	5.37:g.52368469G>T	ENSP00000296585:p.Glu791Asp	63	0		50	10	NM_002203	0	0	0	0	0	Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	7.661	0.685006	0.14973	.	.	ENSG00000164171	ENST00000296585	T	0.48836	0.8	5.66	-8.57	0.00900	Integrin alpha-2 (1);	0.674988	0.15619	N	0.252987	T	0.11067	0.0270	N	0.01352	-0.895	0.20489	N	0.999896	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.17531	-1.0366	10	0.22706	T	0.39	.	2.8688	0.05610	0.2098:0.4041:0.1595:0.2266	.	791;791	E7ESP4;P17301	.;ITA2_HUMAN	D	791	ENSP00000296585:E791D	ENSP00000296585:E791D	E	+	3	2	ITGA2	52404226	0.005000	0.15991	0.300000	0.25030	0.667000	0.39255	-1.079000	0.03410	-1.200000	0.02662	-0.457000	0.05445	GAG	.		0.353	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	
CDC20B	166979	bcgsc.ca	37	5	54410099	54410099	+	Missense_Mutation	SNP	G	G	A	rs444527	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:54410099G>A	ENST00000381375.2	-	12	1652	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	CDC20B_ENST00000296733.1_Missense_Mutation_p.R499W|CDC20B_ENST00000322374.6_Missense_Mutation_p.R461W|CDC20B_ENST00000334206.5_3'UTR			Q86Y33	CD20B_HUMAN	cell division cycle 20B	503			R -> W (in dbSNP:rs444527). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.					p.R499W(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			gaaaacacccgggtctggtct	0.537													G|||	849	0.169529	0.0401	0.147	5008	,	,		17932	0.1865		0.2127	False		,,,				2504	0.2986				p.R503W		.											.	CDC20B-90	1	Substitution - Missense(1)	stomach(1)	c.C1507T						.	G	TRP/ARG,TRP/ARG,TRP/ARG	270,4136	154.4+/-187.8	13,244,1946	96.0	90.0	92.0		1381,1507,1495	1.7	0.3	5	dbSNP_80	92	1642,6958	303.4+/-306.4	161,1320,2819	yes	missense,missense,missense	CDC20B	NM_001145734.2,NM_001170402.1,NM_152623.2	101,101,101	174,1564,4765	AA,AG,GG		19.093,6.128,14.7009	probably-damaging,probably-damaging,probably-damaging	461/478,503/520,499/516	54410099	1912,11094	2203	4300	6503	SO:0001583	missense	166979	exon12			ACACCCGGGTCTG	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1507C>T	5.37:g.54410099G>A	ENSP00000370781:p.Arg503Trp	255	3		257	8	NM_001170402	0	0	0	0	0	B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	CCDS54852.1	339	0.15521978021978022	23	0.046747967479674794	59	0.16298342541436464	91	0.1590909090909091	166	0.21899736147757257	G	15.65	2.897041	0.52121	0.06128	0.19093	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.60548	0.18;0.18;0.18	3.73	1.7	0.24286	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.521154	0.14995	N	0.286491	T	0.00039	0.0001	L	0.27975	0.815	0.58432	P	4.000000000004E-6	D;D;D	0.65815	0.993;0.995;0.986	P;P;P	0.58520	0.752;0.84;0.636	T	0.04961	-1.0915	9	0.72032	D	0.01	-18.0434	4.2399	0.10643	0.123:0.0:0.6533:0.2237	rs444527;rs17839390;rs59073991;rs444527	461;503;499	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	W	499;503;461	ENSP00000296733:R499W;ENSP00000370781:R503W;ENSP00000315720:R461W	ENSP00000296733:R499W	R	-	1	2	CDC20B	54445856	0.057000	0.20700	0.334000	0.25495	0.958000	0.62258	0.257000	0.18369	0.876000	0.35872	0.563000	0.77884	CGG	G|0.861;A|0.139		0.537	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623	
GPX8	493869	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	54457048	54457048	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:54457048G>T	ENST00000503787.1	+	2	506	c.431G>T	c.(430-432)gGa>gTa	p.G144V	GPX8_ENST00000296734.6_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.G93V|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	144					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	AAGATTCTAGGATCTGAAGGA	0.378																																					p.G144V		.											.	GPX8-68	0			c.G431T						.						76.0	84.0	81.0					5																	54457048		2203	4300	6503	SO:0001583	missense	493869	exon2			TTCTAGGATCTGA	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.431G>T	5.37:g.54457048G>T	ENSP00000423822:p.Gly144Val	44	0		36	9	NM_001008397	0	0	0	0	0		Missense_Mutation	SNP	ENST00000503787.1	37	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774660	0.90108	.	.	ENSG00000164294	ENST00000503787;ENST00000515370	T;T	0.33865	1.39;1.39	5.47	5.47	0.80525	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	H	0.99464	4.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88575	0.3132	10	0.87932	D	0	.	19.337	0.94324	0.0:0.0:1.0:0.0	.	93;144	E7ETY7;Q8TED1	.;GPX8_HUMAN	V	144;93	ENSP00000423822:G144V;ENSP00000427466:G93V	ENSP00000423822:G144V	G	+	2	0	GPX8	54492805	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	9.467000	0.97671	2.574000	0.86865	0.655000	0.94253	GGA	.		0.378	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397	
ACTBL2	345651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	56778494	56778494	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:56778494C>T	ENST00000423391.1	-	1	142	c.41G>A	c.(40-42)gGg>gAg	p.G14E	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	14						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CATCCCTGACCCATTATCCAC	0.552																																					p.G14E		.											.	ACTBL2-25	0			c.G41A						.						81.0	59.0	66.0					5																	56778494		2203	4300	6503	SO:0001583	missense	345651	exon1			CCTGACCCATTAT		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.41G>A	5.37:g.56778494C>T	ENSP00000416706:p.Gly14Glu	179	0		160	72	NM_001017992	0	0	0	0	0	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077815	0.55753	.	.	ENSG00000169067	ENST00000423391	D	0.99906	-7.73	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000004	D	0.99957	0.9982	H	0.99990	5.32	0.58432	D	0.999999	D	0.63046	0.992	D	0.79108	0.992	D	0.96038	0.9022	10	0.87932	D	0	.	16.1712	0.81817	0.0:1.0:0.0:0.0	.	14	Q562R1	ACTBL_HUMAN	E	14	ENSP00000416706:G14E	ENSP00000416706:G14E	G	-	2	0	ACTBL2	56814251	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.563000	0.82314	2.669000	0.90835	0.563000	0.77884	GGG	.		0.552	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
PDE4D	5144	ucsc.edu;bcgsc.ca	37	5	58270494	58270494	+	Silent	SNP	C	C	A	rs7736186	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:58270494C>A	ENST00000340635.6	-	15	2602	c.2427G>T	c.(2425-2427)acG>acT	p.T809T	PDE4D_ENST00000358923.6_Silent_p.T507T|PDE4D_ENST00000360047.5_Silent_p.T673T|PDE4D_ENST00000507116.1_Silent_p.T745T|PDE4D_ENST00000317118.8_Silent_p.T518T|PDE4D_ENST00000502484.2_Silent_p.T748T|PDE4D_ENST00000503258.1_Silent_p.T679T|PDE4D_ENST00000546160.1_Silent_p.T748T|PDE4D_ENST00000405755.2_Silent_p.T687T	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	809					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TGCACTGTTACGTGTCAGGAG	0.438																																					p.T809T		.											.	PDE4D-226	0			c.G2427T						.						154.0	150.0	151.0					5																	58270494		1913	4133	6046	SO:0001819	synonymous_variant	5144	exon15			CTGTTACGTGTCA		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2427G>T	5.37:g.58270494C>A		86	1		62	9	NM_001104631	0	0	0	0	0	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	ENST00000340635.6	37	CCDS47213.1																																																																																			C|0.986;T|0.014		0.438	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3		
LRRC70	100130733	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	61876613	61876613	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:61876613G>A	ENST00000334994.5	+	2	1587	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	LRRC70_ENST00000491184.2_3'UTR|IPO11_ENST00000325324.6_Intron|IPO11_ENST00000409534.1_Intron|IPO11_ENST00000409296.3_Intron|LRRC70_ENST00000448151.2_3'UTR	NM_181506.4	NP_852607.3	Q7Z2Q7	LRR70_HUMAN	leucine rich repeat containing 70	450						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						TACTGAGACTGAGAACATTAC	0.408																																					p.E450K		.											.	.	0			c.G1348A						.						131.0	108.0	115.0					5																	61876613		692	1591	2283	SO:0001583	missense	100130733	exon2			GAGACTGAGAACA		CCDS47218.1	5q12.1	2008-12-18			ENSG00000186105	ENSG00000186105			35155	protein-coding gene	gene with protein product	"""synleurin"""						Standard	NM_181506		Approved	SLRN, LOC100130733	uc011cqs.1	Q7Z2Q7	OTTHUMG00000154401	ENST00000334994.5:c.1348G>A	5.37:g.61876613G>A	ENSP00000399441:p.Glu450Lys	105	0		92	38	NM_181506	0	0	0	0	0	Q6ZWI5	Missense_Mutation	SNP	ENST00000334994.5	37	CCDS47218.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613382	0.28712	.	.	ENSG00000186105	ENST00000334994	T	0.49432	0.78	4.97	4.97	0.65823	.	.	.	.	.	T	0.29749	0.0743	N	0.19112	0.55	0.80722	D	1	B	0.27997	0.197	B	0.21708	0.036	T	0.08229	-1.0732	8	.	.	.	.	10.9869	0.47526	0.0947:0.0:0.9053:0.0	.	450	Q7Z2Q7	LRR70_HUMAN	K	450	ENSP00000399441:E450K	.	E	+	1	0	LRRC70	61912369	0.192000	0.23301	0.998000	0.56505	0.358000	0.29455	1.460000	0.35244	2.723000	0.93209	0.655000	0.94253	GAG	.		0.408	LRRC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335067.3	XR_042302	
ADAMTS6	11174	hgsc.bcm.edu;bcgsc.ca	37	5	64483914	64483914	+	5'UTR	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:64483914delG	ENST00000314351.5	-	0	498							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCGACAGGCCGGTGTGTTAAA	0.522																																					p.R947fs		.											.	ADAMTS6-226	0			c.2839delC						.						163.0	152.0	155.0					5																	64483914		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174	exon22			CAGGCCGGTGTGT	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-824C>-	5.37:g.64483914delG		137	0		98	23	NM_197941	0	0	0	0	0	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Frame_Shift_Del	DEL	ENST00000314351.5	37																																																																																				.		0.522	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941	
ADAMTS6	11174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	64747376	64747376	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:64747376G>C	ENST00000536360.1	-	7	1812	c.999C>G	c.(997-999)ctC>ctG	p.L333L				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	333	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTTGGTGGGAGAGAATGGATT	0.418																																					p.L333L		.											.	ADAMTS6-226	0			c.C999G						.						195.0	174.0	181.0					5																	64747376		2203	4300	6503	SO:0001819	synonymous_variant	11174	exon7			GTGGGAGAGAATG	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.999C>G	5.37:g.64747376G>C		196	0		248	26	NM_197941	0	0	0	0	0	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37																																																																																				.		0.418	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941	
ADAMTS6	11174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	64755998	64755998	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:64755998C>A	ENST00000536360.1	-	4	1443	c.630G>T	c.(628-630)tcG>tcT	p.S210S				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	210						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CTCACTCACCCGAAACCCCAC	0.403																																					p.S210S		.											.	ADAMTS6-226	0			c.G630T						.						136.0	131.0	133.0					5																	64755998		2203	4300	6503	SO:0001630	splice_region_variant	11174	exon4			CTCACCCGAAACC	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.631+1G>T	5.37:g.64755998C>A		76	0		81	21	NM_197941	0	0	0	0	0	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37																																																																																				.		0.403	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941	Silent
F2RL1	2150	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	76129178	76129178	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:76129178G>T	ENST00000296677.4	+	2	952	c.746G>T	c.(745-747)gGg>gTg	p.G249V		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	249					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CTGGCCATTGGGGTCTTTCTG	0.488																																					p.G249V		.											.	F2RL1-226	0			c.G746T						.						94.0	86.0	89.0					5																	76129178		2203	4300	6503	SO:0001583	missense	2150	exon2			CCATTGGGGTCTT	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.746G>T	5.37:g.76129178G>T	ENSP00000296677:p.Gly249Val	166	0		159	37	NM_005242	0	0	0	0	0	Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	7.341	0.620997	0.14193	.	.	ENSG00000164251	ENST00000296677	T	0.34275	1.37	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.051640	0.85682	D	0.000000	T	0.20455	0.0492	N	0.03000	-0.44	0.80722	D	1	P	0.44776	0.843	B	0.40659	0.336	T	0.12785	-1.0534	9	.	.	.	-11.822	19.9067	0.97010	0.0:0.0:1.0:0.0	.	249	P55085	PAR2_HUMAN	V	249	ENSP00000296677:G249V	.	G	+	2	0	F2RL1	76164934	1.000000	0.71417	0.991000	0.47740	0.899000	0.52679	7.015000	0.76387	2.703000	0.92315	0.655000	0.94253	GGG	.		0.488	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2		
S100Z	170591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	76173537	76173537	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:76173537G>T	ENST00000317593.4	+	4	412	c.180G>T	c.(178-180)caG>caT	p.Q60H	S100Z_ENST00000513010.1_Missense_Mutation_p.Q60H	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	60	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		AGATAGTGCAGGACCTGGATG	0.398																																					p.Q60H		.											.	S100Z-91	0			c.G180T						.						136.0	144.0	141.0					5																	76173537		2082	4238	6320	SO:0001583	missense	170591	exon4			AGTGCAGGACCTG	AF437876	CCDS43333.1	5q13.3	2014-08-12	2006-09-11		ENSG00000171643	ENSG00000171643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	30367	protein-coding gene	gene with protein product		610103	"""S100 calcium binding protein, zeta"""			11747429	Standard	NM_130772		Approved	Gm625, S100-zeta	uc003keq.4	Q8WXG8	OTTHUMG00000162441	ENST00000317593.4:c.180G>T	5.37:g.76173537G>T	ENSP00000320430:p.Gln60His	179	0		153	28	NM_130772	0	0	0	0	0		Missense_Mutation	SNP	ENST00000317593.4	37	CCDS43333.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572979	0.28092	.	.	ENSG00000171643	ENST00000513010;ENST00000317593	T;T	0.14391	2.51;2.51	5.38	2.42	0.29668	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.185694	0.56097	N	0.000035	T	0.08582	0.0213	.	.	.	0.32444	N	0.546357	B	0.02656	0.0	B	0.04013	0.001	T	0.08911	-1.0699	9	0.56958	D	0.05	.	2.2436	0.04025	0.1386:0.1227:0.3617:0.377	.	60	Q8WXG8	S100Z_HUMAN	H	60	ENSP00000426768:Q60H;ENSP00000320430:Q60H	ENSP00000320430:Q60H	Q	+	3	2	S100Z	76209293	0.993000	0.37304	1.000000	0.80357	0.470000	0.32858	0.305000	0.19254	0.585000	0.29608	0.638000	0.83543	CAG	.		0.398	S100Z-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368927.1	NM_130772	
PAPD4	167153	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	78944447	78944447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:78944447G>T	ENST00000296783.3	+	10	1128	c.829G>T	c.(829-831)Gag>Tag	p.E277*	PAPD4_ENST00000423041.2_Nonsense_Mutation_p.E273*|PAPD4_ENST00000428308.2_Nonsense_Mutation_p.E277*|PAPD4_ENST00000504233.1_Nonsense_Mutation_p.E277*|PAPD4_ENST00000453514.1_Nonsense_Mutation_p.E277*			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	277					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		taGTTGTGTGGAGTTTGACTT	0.269																																					p.E277X		.											.	PAPD4-69	0			c.G829T						.						53.0	51.0	51.0					5																	78944447		2197	4280	6477	SO:0001587	stop_gained	167153	exon10			TGTGTGGAGTTTG	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.829G>T	5.37:g.78944447G>T	ENSP00000296783:p.Glu277*	137	0		99	18	NM_173797	0	0	0	0	0	Q86WZ2|Q8N927	Nonsense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	G	41	9.017666	0.99037	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-12.2268	20.0086	0.97443	0.0:0.0:1.0:0.0	.	.	.	.	X	277;273;277;277;277	.	ENSP00000296783:E277X	E	+	1	0	PAPD4	78980203	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.791000	0.85805	2.835000	0.97688	0.591000	0.81541	GAG	.		0.269	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797	
CMYA5	202333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	79025201	79025201	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:79025201A>G	ENST00000446378.2	+	2	644	c.613A>G	c.(613-615)Act>Gct	p.T205A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	205					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACCTCCGATTACTGGGGCAAT	0.358																																					p.T205A		.											.	CMYA5-77	0			c.A613G						.						48.0	48.0	48.0					5																	79025201		1820	4089	5909	SO:0001583	missense	202333	exon2			CCGATTACTGGGG	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.613A>G	5.37:g.79025201A>G	ENSP00000394770:p.Thr205Ala	195	0		160	23	NM_153610	0	0	0	0	0	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.289032	0.23478	.	.	ENSG00000164309	ENST00000446378	T	0.60040	0.22	6.06	6.06	0.98353	.	0.127790	0.36665	N	0.002480	T	0.49762	0.1576	L	0.34521	1.04	0.09310	N	0.999993	P	0.48503	0.911	P	0.46940	0.532	T	0.54629	-0.8265	10	0.87932	D	0	.	6.8239	0.23872	0.795:0.0:0.0699:0.135	.	205	Q8N3K9	CMYA5_HUMAN	A	205	ENSP00000394770:T205A	ENSP00000394770:T205A	T	+	1	0	CMYA5	79060957	0.945000	0.32115	0.953000	0.39169	0.221000	0.24807	3.078000	0.50096	2.315000	0.78130	0.533000	0.62120	ACT	.		0.358	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	79031613	79031613	+	Missense_Mutation	SNP	A	A	T	rs372139811		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:79031613A>T	ENST00000446378.2	+	2	7056	c.7025A>T	c.(7024-7026)gAt>gTt	p.D2342V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2342					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATGTTACTGATAGTAAAAGA	0.368																																					p.D2342V		.											.	CMYA5-77	0			c.A7025T						.	A	VAL/ASP	0,3676		0,0,1838	50.0	47.0	48.0		7025	4.8	0.0	5		48	1,8175		0,1,4087	no	missense	CMYA5	NM_153610.3	152	0,1,5925	TT,TA,AA		0.0122,0.0,0.0084	possibly-damaging	2342/4070	79031613	1,11851	1838	4088	5926	SO:0001583	missense	202333	exon2			TTACTGATAGTAA	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7025A>T	5.37:g.79031613A>T	ENSP00000394770:p.Asp2342Val	117	1		123	31	NM_153610	0	0	0	0	0	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	9.999	1.233008	0.22626	0.0	1.22E-4	ENSG00000164309	ENST00000446378	T	0.17213	2.29	6.17	4.83	0.62350	.	0.478986	0.19552	N	0.111545	T	0.18718	0.0449	L	0.57536	1.79	0.09310	N	1	P	0.47409	0.895	B	0.41860	0.368	T	0.22871	-1.0204	10	0.72032	D	0.01	.	8.8492	0.35190	0.9068:0.0:0.0932:0.0	.	2342	Q8N3K9	CMYA5_HUMAN	V	2342	ENSP00000394770:D2342V	ENSP00000394770:D2342V	D	+	2	0	CMYA5	79067369	0.755000	0.28372	0.024000	0.17045	0.004000	0.04260	1.888000	0.39708	2.371000	0.80710	0.533000	0.62120	GAT	.		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
THBS4	7060	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	79366521	79366521	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:79366521T>G	ENST00000350881.2	+	12	1698	c.1508T>G	c.(1507-1509)aTt>aGt	p.I503S	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.I412S	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	503					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAGATGGCATTGGCGACGCT	0.517																																					p.I503S		.											.	THBS4-90	0			c.T1508G						.						142.0	126.0	132.0					5																	79366521		2203	4300	6503	SO:0001583	missense	7060	exon12			ATGGCATTGGCGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1508T>G	5.37:g.79366521T>G	ENSP00000339730:p.Ile503Ser	199	1		213	45	NM_003248	0	0	0	0	0	B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.907806	0.33721	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98792	-5.14;-5.14	5.17	5.17	0.71159	.	0.411149	0.27951	N	0.017183	D	0.98105	0.9375	M	0.91768	3.24	0.37738	D	0.925504	B	0.26809	0.16	B	0.26517	0.07	D	0.98891	1.0773	10	0.45353	T	0.12	-3.6587	10.3906	0.44166	0.0:0.076:0.0:0.924	.	503	P35443	TSP4_HUMAN	S	503;412	ENSP00000339730:I503S;ENSP00000422298:I412S	ENSP00000339730:I503S	I	+	2	0	THBS4	79402277	0.001000	0.12720	0.981000	0.43875	0.537000	0.34900	1.153000	0.31676	2.183000	0.69458	0.533000	0.62120	ATT	.		0.517	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
VCAN	1462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	82785935	82785935	+	Missense_Mutation	SNP	C	C	A	rs202176395		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:82785935C>A	ENST00000265077.3	+	3	654	c.89C>A	c.(88-90)cCa>cAa	p.P30Q	VCAN_ENST00000513984.1_Missense_Mutation_p.P30Q|VCAN_ENST00000342785.4_Missense_Mutation_p.P30Q|VCAN_ENST00000502527.2_Missense_Mutation_p.P30Q|VCAN_ENST00000343200.5_Missense_Mutation_p.P30Q|VCAN_ENST00000512590.2_5'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	30	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|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)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGAAAAAGCCCACCGGTGAGG	0.418																																					p.P30Q		.											.	VCAN-238	0			c.C89A						.						45.0	46.0	46.0					5																	82785935		2199	4282	6481	SO:0001583	missense	1462	exon3			AAAGCCCACCGGT	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.89C>A	5.37:g.82785935C>A	ENSP00000265077:p.Pro30Gln	47	0		45	12	NM_004385	0	0	0	0	0	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104405	0.37145	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.78	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin V-set (1);	0.201095	0.35646	N	0.003080	T	0.66944	0.2841	N	0.21282	0.65	0.26838	N	0.968437	P;B;D;D;B	0.69078	0.942;0.002;0.989;0.997;0.188	P;B;P;D;B	0.70227	0.622;0.009;0.885;0.968;0.102	T	0.63475	-0.6629	10	0.49607	T	0.09	.	15.1162	0.72404	0.0:0.9316:0.0:0.0684	.	30;30;30;30;30	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	Q	30	ENSP00000265077:P30Q;ENSP00000340062:P30Q;ENSP00000342768:P30Q;ENSP00000426251:P30Q;ENSP00000426715:P30Q;ENSP00000421362:P30Q	ENSP00000265077:P30Q	P	+	2	0	VCAN	82821691	0.001000	0.12720	0.004000	0.12327	0.051000	0.14879	1.377000	0.34317	1.447000	0.47661	0.655000	0.94253	CCA	C|0.999;T|0.001		0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	82808022	82808022	+	Silent	SNP	C	C	A	rs142777690	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:82808022C>A	ENST00000265077.3	+	6	1414	c.849C>A	c.(847-849)ctC>ctA	p.L283L	VCAN_ENST00000513984.1_Silent_p.L283L|VCAN_ENST00000342785.4_Silent_p.L283L|VCAN_ENST00000502527.2_Silent_p.L283L|VCAN_ENST00000343200.5_Silent_p.L283L|VCAN_ENST00000512590.2_Silent_p.L235L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	283	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|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)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGGGGGAACTCCAGGCGGCAT	0.597																																					p.L283L		.											.	VCAN-238	0			c.C849A						.						74.0	65.0	68.0					5																	82808022		2203	4300	6503	SO:0001819	synonymous_variant	1462	exon6			GGAACTCCAGGCG	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.849C>A	5.37:g.82808022C>A		161	1		102	52	NM_004385	0	0	0	0	0	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																			C|0.999;T|0.001		0.597	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
EDIL3	10085	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	83356153	83356153	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:83356153G>A	ENST00000296591.5	-	9	1521	c.1103C>T	c.(1102-1104)aCc>aTc	p.T368I	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.T358I	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	368	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTGGCCAGAGGTCCAGGCATT	0.458																																					p.T368I		.											.	EDIL3-131	0			c.C1103T						.						144.0	134.0	138.0					5																	83356153		2203	4300	6503	SO:0001583	missense	10085	exon9			CCAGAGGTCCAGG	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1103C>T	5.37:g.83356153G>A	ENSP00000296591:p.Thr368Ile	128	1		140	21	NM_005711	0	0	0	0	0	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240453	0.79912	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98178	-4.77;-4.77	5.96	5.09	0.68999	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.042264	0.85682	D	0.000000	D	0.98416	0.9473	L	0.50919	1.6	0.80722	D	1	B;D;P	0.76494	0.031;0.999;0.619	B;D;P	0.80764	0.025;0.994;0.487	D	0.99764	1.1022	10	0.62326	D	0.03	-14.9436	16.6084	0.84837	0.0:0.0:0.8687:0.1313	.	145;358;368	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	I	368;358	ENSP00000296591:T368I;ENSP00000369483:T358I	ENSP00000296591:T368I	T	-	2	0	EDIL3	83391909	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.640000	0.83355	1.521000	0.48983	0.655000	0.94253	ACC	.		0.458	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711	
MEF2C	4208	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	88047710	88047710	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:88047710C>G	ENST00000437473.2	-	5	970	c.553G>C	c.(553-555)Ggt>Cgt	p.G185R	MEF2C_ENST00000424173.2_Missense_Mutation_p.G183R|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000504921.2_Missense_Mutation_p.G185R|MEF2C_ENST00000514028.1_Missense_Mutation_p.G185R|MEF2C_ENST00000514015.1_Missense_Mutation_p.G185R|MEF2C_ENST00000508569.1_Missense_Mutation_p.G185R|MEF2C_ENST00000510942.1_Missense_Mutation_p.G185R|MEF2C_ENST00000506554.1_Missense_Mutation_p.G185R|MEF2C_ENST00000539796.1_Missense_Mutation_p.G137R|MEF2C_ENST00000340208.5_Missense_Mutation_p.G203R	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	185					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGTGTTACACCAGGAGACATA	0.478										HNSCC(66;0.2)																											p.G203R		.											.	MEF2C-704	0			c.G607C						.						297.0	290.0	292.0					5																	88047710		2032	4190	6222	SO:0001583	missense	4208	exon7			TTACACCAGGAGA	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.553G>C	5.37:g.88047710C>G	ENSP00000396219:p.Gly185Arg	211	0		192	44	NM_001193347	0	0	0	0	0	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717154	0.89205	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	T;T;T;T;T;T;T;T;T;T;D;D	0.87887	0.03;0.07;0.12;0.14;0.14;0.09;-0.2;-0.22;-0.15;0.43;-2.28;-2.31	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93510	0.7929	M	0.75085	2.285	0.80722	D	1	B;D;D;D	0.89917	0.23;1.0;1.0;1.0	B;D;D;D	0.91635	0.074;0.999;0.999;0.997	D	0.92723	0.6193	10	0.48119	T	0.1	-4.1498	19.8938	0.96942	0.0:1.0:0.0:0.0	.	183;203;185;185	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	R	203;183;185;185;185;185;185;185;185;137;183;183	ENSP00000340874:G203R;ENSP00000389610:G183R;ENSP00000421925:G185R;ENSP00000426665:G185R;ENSP00000396219:G185R;ENSP00000422390:G185R;ENSP00000425636:G185R;ENSP00000423597:G185R;ENSP00000424606:G185R;ENSP00000441153:G137R;ENSP00000423826:G183R;ENSP00000423656:G183R	ENSP00000340874:G203R	G	-	1	0	MEF2C	88083466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.703000	0.92315	0.460000	0.39030	GGT	.		0.478	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	
POU5F2	134187	broad.mit.edu;ucsc.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	93077152	93077153	+	Missense_Mutation	DNP	CC	CC	AA	rs371634969		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	|C	|C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:93077152_93077153CC>AA	ENST00000510627.4	-	1	190_191	c.117_118GG>TT	c.(115-120)gcGGcc>gcTTcc	p.A40S	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'Flank	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	40					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTGCCAGGGGCCGCCTGGGTGC	0.683																																					p.A40S|p.A39A		.											.	.	0			c.G118T|c.G117T						.																																			SO:0001583	missense	134187	exon1			CAGGGGCCGCCTG|AGGGGCCGCCTGG		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.117_118delinsAA	5.37:g.93077152_93077153delinsAA	ENSP00000464890:p.Ala40Ser	102	1|0		144|145	68	NM_153216	0	0	0	0	0	Q15169|Q6MZL7|Q8N748	Missense_Mutation|Silent	SNP	ENST00000510627.4	37	CCDS59489.1																																																																																			.		0.683	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216	
KIAA0825	285600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	93805738	93805738	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:93805738G>A	ENST00000513200.3	-	9	1872	c.1800C>T	c.(1798-1800)gtC>gtT	p.V600V	KIAA0825_ENST00000427991.2_Silent_p.V600V|KIAA0825_ENST00000312498.7_Silent_p.V600V	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	600										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						CACAAACTCTGACGCAGTAGT	0.423																																					p.V600V		.											.	KIAA0825-91	0			c.C1800T						.						204.0	174.0	183.0					5																	93805738		692	1591	2283	SO:0001819	synonymous_variant	285600	exon10			AACTCTGACGCAG	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.1800C>T	5.37:g.93805738G>A		108	0		108	18	NM_001145678	0	0	0	0	0	O94914|Q6ZNN2	Silent	SNP	ENST00000513200.3	37																																																																																				.		0.423	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665	
ANKRD32	84250	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	94027837	94027837	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94027837C>A	ENST00000265140.5	+	20	2990	c.2571C>A	c.(2569-2571)gtC>gtA	p.V857V		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	857						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGTGTGTGTCCAGGAAATTT	0.448																																					p.V857V		.											.	ANKRD32-92	0			c.C2571A						.						125.0	115.0	118.0					5																	94027837		2203	4300	6503	SO:0001819	synonymous_variant	84250	exon20			GTGTGTCCAGGAA	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2571C>A	5.37:g.94027837C>A		146	1		145	37	NM_032290	0	0	0	0	0	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	CCDS4071.2																																																																																			.		0.448	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290	
MCTP1	79772	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	94206155	94206155	+	Missense_Mutation	SNP	C	C	A	rs375826785		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94206155C>A	ENST00000515393.1	-	16	2282	c.2283G>T	c.(2281-2283)aaG>aaT	p.K761N	MCTP1_ENST00000312216.8_Missense_Mutation_p.K540N|MCTP1_ENST00000505078.1_Missense_Mutation_p.K277N|MCTP1_ENST00000505208.1_Missense_Mutation_p.K540N|MCTP1_ENST00000429576.2_Missense_Mutation_p.K494N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	761					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTCAATGTACTTCTGTTCTT	0.318																																					p.K761N		.											.	MCTP1-92	0			c.G2283T						.						189.0	178.0	182.0					5																	94206155		2202	4299	6501	SO:0001583	missense	79772	exon16			AATGTACTTCTGT		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2283G>T	5.37:g.94206155C>A	ENSP00000424126:p.Lys761Asn	120	2		80	37	NM_024717	0	0	0	0	0	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849002	0.51164	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568	T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.59	5.59	0.84812	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	M	0.69463	2.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.992	T	0.82285	-0.0533	10	0.56958	D	0.05	-15.5605	12.8678	0.57949	0.0:0.9259:0.0:0.0741	.	761;494;540	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	N	761;494;277;540;481;422;540;362	ENSP00000424126:K761N;ENSP00000391639:K494N;ENSP00000426417:K277N;ENSP00000308957:K540N;ENSP00000423410:K481N;ENSP00000431075:K422N;ENSP00000426438:K540N;ENSP00000426294:K362N	ENSP00000308957:K540N	K	-	3	2	MCTP1	94231911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.419000	0.59835	2.640000	0.89533	0.655000	0.94253	AAG	.		0.318	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
FAM81B	153643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	94727146	94727146	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94727146C>T	ENST00000283357.5	+	1	99	c.53C>T	c.(52-54)tCa>tTa	p.S18L		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	18						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGAAAAAAATCACAGAGATTG	0.368																																					p.S18L		.											.	FAM81B-92	0			c.C53T						.						73.0	73.0	73.0					5																	94727146		1806	4077	5883	SO:0001583	missense	153643	exon1			AAAAATCACAGAG		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.53C>T	5.37:g.94727146C>T	ENSP00000283357:p.Ser18Leu	129	0		123	26	NM_152548	0	0	0	0	0		Missense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	C	8.255	0.809970	0.16537	.	.	ENSG00000153347	ENST00000283357	T	0.21734	1.99	4.42	-1.28	0.09318	.	.	.	.	.	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30563	-0.9974	9	0.41790	T	0.15	.	1.0328	0.01542	0.1549:0.4005:0.1515:0.293	.	18	Q96LP2	FA81B_HUMAN	L	18	ENSP00000283357:S18L	ENSP00000283357:S18L	S	+	2	0	FAM81B	94752902	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-2.123000	0.01319	-0.387000	0.07809	0.563000	0.77884	TCA	.		0.368	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
FAM81B	153643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	94772570	94772570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94772570C>T	ENST00000283357.5	+	7	899	c.853C>T	c.(853-855)Cag>Tag	p.Q285*		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	285						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAAGATGGTCCAGGGGGATTA	0.393																																					p.Q285X		.											.	FAM81B-92	0			c.C853T						.						80.0	75.0	77.0					5																	94772570		1868	4120	5988	SO:0001587	stop_gained	153643	exon7			ATGGTCCAGGGGG		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.853C>T	5.37:g.94772570C>T	ENSP00000283357:p.Gln285*	94	0		103	50	NM_152548	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432100	0.96150	.	.	ENSG00000153347	ENST00000283357	.	.	.	5.47	4.6	0.57074	.	0.445726	0.23768	N	0.044743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-7.1856	12.6102	0.56546	0.0:0.9185:0.0:0.0815	.	.	.	.	X	285	.	ENSP00000283357:Q285X	Q	+	1	0	FAM81B	94798326	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.360000	0.52299	2.569000	0.86673	0.650000	0.86243	CAG	.		0.393	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
TTC37	9652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	94852291	94852291	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94852291C>T	ENST00000358746.2	-	24	2814		c.e24-1		TTC37_ENST00000515176.1_5'Flank	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37							cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTCCAATACCTGAAAAATAC	0.323																																					.		.											.	TTC37-94	0			c.2516-1G>A						.						58.0	62.0	60.0					5																	94852291		2203	4298	6501	SO:0001630	splice_region_variant	9652	exon25			CAATACCTGAAAA	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2516-1G>A	5.37:g.94852291C>T		126	0		108	51	NM_014639	0	0	0	0	0	O15077|Q6PJI3	Splice_Site	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509134	0.64410	.	.	ENSG00000198677	ENST00000358746	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8545	0.92246	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC37	94878047	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.244000	0.65400	2.531000	0.85337	0.467000	0.42956	.	.		0.323	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	Intron
ARSK	153642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	94901701	94901701	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:94901701G>T	ENST00000380009.4	+	2	331		c.e2-1			NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TTTATTTCCAGGATGGAAGGT	0.313																																					.		.											.	ARSK-91	0			c.127-1G>T						.						55.0	53.0	54.0					5																	94901701		2203	4300	6503	SO:0001630	splice_region_variant	153642	exon2			TTTCCAGGATGGA		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.127-1G>T	5.37:g.94901701G>T		53	0		38	8	NM_198150	0	0	0	0	0	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Splice_Site	SNP	ENST00000380009.4	37	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460170	0.84317	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARSK	94927457	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.404000	0.97306	2.941000	0.99782	0.655000	0.94253	.	.		0.313	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150	Intron
SPATA9	83890	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	95018555	95018555	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:95018555G>C	ENST00000274432.8	-	1	145	c.4C>G	c.(4-6)Cca>Gca	p.P2A	SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.P2A|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	2					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GGTTTGATTGGCATGGTGAGT	0.468																																					p.P2A		.											.	SPATA9-90	0			c.C4G						.						150.0	144.0	146.0					5																	95018555		2203	4300	6503	SO:0001583	missense	83890	exon1			TGATTGGCATGGT	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.4C>G	5.37:g.95018555G>C	ENSP00000274432:p.Pro2Ala	151	1		138	55	NM_031952	0	0	0	0	0	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801492	0.50315	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.44482	0.92	4.8	1.99	0.26369	.	0.485483	0.17410	N	0.175226	T	0.24314	0.0589	N	0.19112	0.55	0.23113	N	0.998275	B	0.26147	0.143	B	0.26770	0.073	T	0.16305	-1.0407	10	0.52906	T	0.07	-1.0216	4.5254	0.11980	0.204:0.1935:0.6025:0.0	.	2	Q9BWV2	SPAT9_HUMAN	A	2	ENSP00000274432:P2A	ENSP00000274432:P2A	P	-	1	0	SPATA9	95044311	0.974000	0.33945	0.812000	0.32479	0.928000	0.56348	0.781000	0.26774	0.219000	0.20840	0.563000	0.77884	CCA	.		0.468	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952	
SLCO6A1	133482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	101794169	101794169	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:101794169G>C	ENST00000506729.1	-	6	1219	c.1048C>G	c.(1048-1050)Cgt>Ggt	p.R350G	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288G|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	350						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGCTGTTTACGTTTCCTAGCT	0.294																																					p.R350G		.											.	SLCO6A1-96	0			c.C1048G						.						133.0	131.0	132.0					5																	101794169		2201	4300	6501	SO:0001583	missense	133482	exon6			GTTTACGTTTCCT	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1048C>G	5.37:g.101794169G>C	ENSP00000421339:p.Arg350Gly	38	0		52	20	NM_173488	0	0	0	0	0	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	7.252	0.603379	0.14002	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.80214	-1.35;-1.35;-1.35	4.3	-0.997	0.10215	Major facilitator superfamily domain, general substrate transporter (1);	2.743770	0.00789	N	0.001322	D	0.85318	0.5669	M	0.74258	2.255	0.09310	N	1	D;D	0.67145	0.996;0.994	D;P	0.65233	0.933;0.9	T	0.65541	-0.6143	10	0.23302	T	0.38	.	0.8993	0.01270	0.1862:0.1516:0.3518:0.3104	.	288;350	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	G	350;350;288	ENSP00000421339:R350G;ENSP00000369135:R350G;ENSP00000373671:R288G	ENSP00000369135:R350G	R	-	1	0	SLCO6A1	101822068	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.281000	0.08456	-0.205000	0.10219	-0.123000	0.14984	CGT	.		0.294	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
PPIP5K2	23262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	102508858	102508858	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:102508858G>T	ENST00000358359.3	+	20	2795		c.e20-1		PPIP5K2_ENST00000321521.9_Splice_Site|PPIP5K2_ENST00000414217.1_Splice_Site|PPIP5K2_ENST00000513500.1_Splice_Site	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2						inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTTTGCTCAGGAATATGGTA	0.338																																					.		.											.	PPIP5K2-92	0			c.2287-1G>T						.						50.0	53.0	52.0					5																	102508858		2203	4299	6502	SO:0001630	splice_region_variant	23262	exon20			TGCTCAGGAATAT	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2287-1G>T	5.37:g.102508858G>T		80	0		55	26	NM_001276277	0	0	0	0	0	A1NI53|A6NGS8|Q8TB50	Splice_Site	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	G	15.84	2.951133	0.53186	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	.	.	.	5.63	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3369	0.49509	0.0682:0.1272:0.8045:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPIP5K2	102536757	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.813000	0.99286	0.733000	0.32492	-0.142000	0.14014	.	.		0.338	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	Intron
APC	324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	112175595	112175595	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:112175595G>C	ENST00000457016.1	+	16	4684	c.4304G>C	c.(4303-4305)aGa>aCa	p.R1435T	APC_ENST00000508376.2_Missense_Mutation_p.R1435T|APC_ENST00000257430.4_Missense_Mutation_p.R1435T|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1435	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1435fs*38(3)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.P1432fs*35(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCACCAAGCAGAAGTAAAACA	0.483		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R1435T	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	APC-12026	7	Deletion - Frameshift(6)|Unknown(1)	large_intestine(5)|soft_tissue(1)|skin(1)	c.G4304C						.						115.0	102.0	106.0					5																	112175595		2202	4300	6502	SO:0001583	missense	324	exon17	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	CAAGCAGAAGTAA	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4304G>C	5.37:g.112175595G>C	ENSP00000413133:p.Arg1435Thr	134	0		114	29	NM_001127510	0	0	0	0	0	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351662	0.82132	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.91407	-2.84;-2.84;-2.84	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.94788	0.8317	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.93281	0.6660	9	.	.	.	-26.4321	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1437;1435	Q4LE70;P25054	.;APC_HUMAN	T	1435	ENSP00000413133:R1435T;ENSP00000257430:R1435T;ENSP00000427089:R1435T	.	R	+	2	0	APC	112203494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	AGA	.		0.483	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
YTHDC2	64848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	112899724	112899724	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:112899724G>T	ENST00000161863.4	+	20	2824	c.2611G>T	c.(2611-2613)Gta>Tta	p.V871L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	871					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGATCCTTTTGTACTACCTAC	0.433																																					p.V871L		.											.	YTHDC2-92	0			c.G2611T						.						187.0	179.0	182.0					5																	112899724		2202	4300	6502	SO:0001583	missense	64848	exon20			CCTTTTGTACTAC	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2611G>T	5.37:g.112899724G>T	ENSP00000161863:p.Val871Leu	136	0		145	56	NM_022828	0	0	0	0	0	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708094	0.48412	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.27256	1.68	5.08	4.15	0.48705	Helicase-associated domain (2);	0.133715	0.50627	D	0.000110	T	0.23492	0.0568	N	0.21240	0.645	0.80722	D	1	B	0.33379	0.41	B	0.41174	0.349	T	0.07347	-1.0777	10	0.36615	T	0.2	.	15.275	0.73734	0.0:0.1406:0.8594:0.0	.	871	Q9H6S0	YTDC2_HUMAN	L	871;781	ENSP00000161863:V871L	ENSP00000161863:V871L	V	+	1	0	YTHDC2	112927623	1.000000	0.71417	0.979000	0.43373	0.988000	0.76386	5.338000	0.65947	2.529000	0.85273	0.655000	0.94253	GTA	.		0.433	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
LVRN	206338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	115318994	115318994	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:115318994G>A	ENST00000357872.4	+	2	830	c.706G>A	c.(706-708)Gcg>Acg	p.A236T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		236						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GGCCCTGTTAGCGTCCCAGCT	0.373																																					p.A236T		.											.	.	0			c.G706A						.						55.0	51.0	52.0					5																	115318994		2201	4298	6499	SO:0001583	missense	0	exon2			CTGTTAGCGTCCC																												ENST00000357872.4:c.706G>A	5.37:g.115318994G>A	ENSP00000350541:p.Ala236Thr	258	0		174	88	NM_173800	0	0	0	0	0	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	3.875	-0.027100	0.07589	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.03920	3.76	5.4	4.48	0.54585	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.172230	0.39210	N	0.001424	T	0.07548	0.0190	N	0.25380	0.74	0.80722	D	1	D	0.63880	0.993	P	0.58620	0.842	T	0.16748	-1.0392	10	0.02654	T	1	.	15.0153	0.71578	0.0:0.0:0.8576:0.1424	.	236	Q6Q4G3	AMPQ_HUMAN	T	236;225	ENSP00000350541:A236T	ENSP00000350541:A236T	A	+	1	0	AC010282.1	115346893	1.000000	0.71417	0.377000	0.26055	0.881000	0.50899	6.768000	0.74980	2.681000	0.91329	0.650000	0.86243	GCG	.		0.373	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
SEMA6A	57556	broad.mit.edu;bcgsc.ca	37	5	115813810	115813821	+	In_Frame_Del	DEL	TGCCCATGATCC	TGCCCATGATCC	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:115813810_115813821delTGCCCATGATCC	ENST00000343348.6	-	14	2244_2255	c.1457_1468delGGATCATGGGCA	c.(1456-1470)aggatcatgggcatg>atg	p.RIMG486del	SEMA6A_ENST00000257414.8_In_Frame_Del_p.RIMG486del|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_In_Frame_Del_p.RIMG486del|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_In_Frame_Del_p.RIMG18del	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	486	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCCAGCTGCATGCCCATGATCCTTTTGTCTTC	0.458																																					p.486_490del		.											.	SEMA6A-92	0			c.1457_1468del						.																																			SO:0001651	inframe_deletion	57556	exon14			GCTGCATGCCCAT	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1457_1468delGGATCATGGGCA	5.37:g.115813810_115813821delTGCCCATGATCC	ENSP00000345512:p.Arg486_Gly489del	203	0		144	11	NM_020796	0	0	0	0	0	Q9P2H9	In_Frame_Del	DEL	ENST00000343348.6	37	CCDS47256.1																																																																																			.		0.458	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
HSD17B4	3295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	118809620	118809620	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:118809620G>T	ENST00000256216.6	+	3	263	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	HSD17B4_ENST00000510025.1_Missense_Mutation_p.D20Y|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000504811.1_Missense_Mutation_p.D69Y|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000515320.1_Missense_Mutation_p.D26Y|HSD17B4_ENST00000414835.2_5'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	44	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTTGGGAGGGGACTTCAAAGG	0.378																																					p.D69Y	Colon(35;490 801 34689 41394 43344)	.											.	HSD17B4-92	0			c.G205T	GRCh37	CD060117	HSD17B4	D		.						122.0	123.0	123.0					5																	118809620		2202	4300	6502	SO:0001583	missense	3295	exon4			GGAGGGGACTTCA		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.130G>T	5.37:g.118809620G>T	ENSP00000256216:p.Asp44Tyr	165	0		128	20	NM_001199291	0	0	0	0	0	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585089	0.66105	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.03	4.16	0.48862	NAD(P)-binding domain (1);	0.099613	0.64402	D	0.000002	D	0.94644	0.8273	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.65815	0.993;0.984;0.984;0.995	P;P;P;D	0.67548	0.859;0.603;0.603;0.952	D	0.94828	0.7993	10	0.72032	D	0.01	-14.7381	13.2224	0.59896	0.0783:0.0:0.9217:0.0	.	69;26;20;44	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	Y	44;26;20;69	ENSP00000256216:D44Y;ENSP00000424613:D26Y;ENSP00000424940:D20Y;ENSP00000420914:D69Y	ENSP00000256216:D44Y	D	+	1	0	HSD17B4	118837519	1.000000	0.71417	0.872000	0.34217	0.973000	0.67179	4.760000	0.62235	1.116000	0.41820	-0.291000	0.09656	GAC	.		0.378	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414	
MEGF10	84466	broad.mit.edu;ucsc.edu	37	5	126755743	126755743	+	Missense_Mutation	SNP	C	C	A	rs200050342		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:126755743C>A	ENST00000274473.6	+	13	1701	c.1434C>A	c.(1432-1434)caC>caA	p.H478Q	MEGF10_ENST00000418761.2_Missense_Mutation_p.H478Q|MEGF10_ENST00000503335.2_Missense_Mutation_p.H478Q|MEGF10_ENST00000508365.1_Missense_Mutation_p.H478Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	478	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGGCTGGCACGGGGTGGACT	0.572																																					p.H478Q		.											.	MEGF10-94	0			c.C1434A						.						72.0	56.0	62.0					5																	126755743		2203	4300	6503	SO:0001583	missense	84466	exon13			CTGGCACGGGGTG	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1434C>A	5.37:g.126755743C>A	ENSP00000274473:p.His478Gln	98	2		95	16	NM_032446	0	0	0	0	0	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	2.644	-0.283445	0.05642	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.62	0.249	0.15531	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	N	0.02960	-0.455	0.53688	D	0.999971	B;B	0.14012	0.003;0.009	B;B	0.21360	0.007;0.034	T	0.37865	-0.9687	10	0.02654	T	1	-23.3832	9.9952	0.41896	0.0:0.3611:0.0:0.6389	.	478;478	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	Q	478	ENSP00000423354:H478Q;ENSP00000423195:H478Q;ENSP00000416284:H478Q;ENSP00000274473:H478Q	ENSP00000274473:H478Q	H	+	3	2	MEGF10	126783642	0.725000	0.28048	0.998000	0.56505	0.984000	0.73092	-0.136000	0.10405	0.030000	0.15379	0.655000	0.94253	CAC	C|1.000;T|0.000		0.572	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	
MEGF10	84466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	126769171	126769171	+	Missense_Mutation	SNP	C	C	G	rs202135671		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:126769171C>G	ENST00000274473.6	+	15	2077	c.1810C>G	c.(1810-1812)Cca>Gca	p.P604A	MEGF10_ENST00000503335.2_Missense_Mutation_p.P604A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	604	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CGAGTGTGCACCAGGCTTCCG	0.547																																					p.P604A		.											.	MEGF10-94	0			c.C1810G						.						124.0	118.0	120.0					5																	126769171		2203	4300	6503	SO:0001583	missense	84466	exon15			TGTGCACCAGGCT	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1810C>G	5.37:g.126769171C>G	ENSP00000274473:p.Pro604Ala	164	0		166	40	NM_032446	0	0	0	0	0	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105658	0.77096	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.56103	0.48;0.48	6.17	6.17	0.99709	EGF-like, laminin (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	L	0.47016	1.485	0.58432	D	0.999998	D	0.55172	0.97	P	0.59012	0.85	T	0.56625	-0.7948	10	0.33940	T	0.23	-10.4167	20.8794	0.99867	0.0:1.0:0.0:0.0	.	604	Q96KG7	MEG10_HUMAN	A	604	ENSP00000423354:P604A;ENSP00000274473:P604A	ENSP00000274473:P604A	P	+	1	0	MEGF10	126797070	1.000000	0.71417	0.807000	0.32361	0.793000	0.44817	4.902000	0.63266	2.941000	0.99782	0.655000	0.94253	CCA	C|0.999;A|0.000		0.547	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	127595479	127595479	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:127595479C>A	ENST00000508053.1	-	71	9381	c.8407G>T	c.(8407-8409)Gtc>Ttc	p.V2803F	FBN2_ENST00000262464.4_Missense_Mutation_p.V2803F			P35556	FBN2_HUMAN	fibrillin 2	2803					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCATGTTGACGGGGCTGTCC	0.517																																					p.V2803F		.											.	FBN2-146	0			c.G8407T						.						124.0	118.0	120.0					5																	127595479		2203	4300	6503	SO:0001583	missense	2201	exon65			TGTTGACGGGGCT	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8407G>T	5.37:g.127595479C>A	ENSP00000424571:p.Val2803Phe	145	0		127	22	NM_001999	0	0	0	0	0	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.283184	0.23392	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.84800	-1.9;-1.9	5.44	-1.34	0.09143	.	0.708561	0.13334	N	0.395696	T	0.72882	0.3516	L	0.36672	1.1	0.21290	N	0.999731	B	0.24186	0.099	B	0.25614	0.062	T	0.59825	-0.7381	10	0.44086	T	0.13	.	2.7572	0.05296	0.0937:0.2901:0.1879:0.4283	.	2803	P35556	FBN2_HUMAN	F	2803	ENSP00000262464:V2803F;ENSP00000424571:V2803F	ENSP00000262464:V2803F	V	-	1	0	FBN2	127623378	0.000000	0.05858	0.156000	0.22583	0.991000	0.79684	-1.279000	0.02807	-0.136000	0.11475	0.555000	0.69702	GTC	.		0.517	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	127640733	127640733	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:127640733C>A	ENST00000508053.1	-	51	6690	c.5716G>T	c.(5716-5718)Ggc>Tgc	p.G1906C	FBN2_ENST00000262464.4_Missense_Mutation_p.G1906C			P35556	FBN2_HUMAN	fibrillin 2	1906	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACACACAAGCCATGACTGCAA	0.378																																					p.G1906C		.											.	FBN2-146	0			c.G5716T						.						86.0	72.0	76.0					5																	127640733		2203	4300	6503	SO:0001583	missense	2201	exon45			ACAAGCCATGACT	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5716G>T	5.37:g.127640733C>A	ENSP00000424571:p.Gly1906Cys	209	0		199	38	NM_001999	0	0	0	0	0	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396977	0.83120	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92495	-3.05;-3.05	5.03	4.15	0.48705	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.102409	0.43919	D	0.000508	D	0.97623	0.9221	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98132	1.0431	10	0.87932	D	0	.	13.8882	0.63721	0.0:0.9254:0.0:0.0746	.	1906	P35556	FBN2_HUMAN	C	1906	ENSP00000262464:G1906C;ENSP00000424571:G1906C	ENSP00000262464:G1906C	G	-	1	0	FBN2	127668632	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.845000	0.69437	2.619000	0.88677	0.467000	0.42956	GGC	.		0.378	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	127782257	127782257	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:127782257C>A	ENST00000508053.1	-	13	1843	c.869G>T	c.(868-870)gGa>gTa	p.G290V	FBN2_ENST00000508989.1_Missense_Mutation_p.G257V|FBN2_ENST00000262464.4_Missense_Mutation_p.G290V			P35556	FBN2_HUMAN	fibrillin 2	290	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATACAGTTTCCTCCTTGGCA	0.413																																					p.G290V		.											.	FBN2-146	0			c.G869T						.						139.0	126.0	131.0					5																	127782257		2203	4300	6503	SO:0001583	missense	2201	exon7			CAGTTTCCTCCTT	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.869G>T	5.37:g.127782257C>A	ENSP00000424571:p.Gly290Val	83	0		77	11	NM_001999	0	0	0	0	0	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889826	0.91889	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.92595	-3.07;-3.07;-2.58;-3.07	4.81	4.81	0.61882	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000007	D	0.96750	0.8939	M	0.90252	3.1	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.992;1.0;0.999	D	0.97277	0.9915	10	0.66056	D	0.02	.	17.5047	0.87741	0.0:1.0:0.0:0.0	.	257;290;257;290	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	V	290;290;257;290	ENSP00000262464:G290V;ENSP00000424571:G290V;ENSP00000425596:G257V;ENSP00000424753:G290V	ENSP00000262464:G290V	G	-	2	0	FBN2	127810156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.599000	0.82757	2.613000	0.88420	0.650000	0.86243	GGA	.		0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	127800433	127800433	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:127800433G>T	ENST00000508053.1	-	12	1784	c.810C>A	c.(808-810)cgC>cgA	p.R270R	FBN2_ENST00000508989.1_Silent_p.R237R|FBN2_ENST00000262464.4_Silent_p.R270R			P35556	FBN2_HUMAN	fibrillin 2	270					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAGCTCCAGTGCGGATGTTGG	0.597																																					p.R270R		.											.	FBN2-146	0			c.C810A						.						91.0	85.0	87.0					5																	127800433		2203	4300	6503	SO:0001819	synonymous_variant	2201	exon6			TCCAGTGCGGATG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.810C>A	5.37:g.127800433G>T		61	0		45	16	NM_001999	0	0	0	0	0	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																			.		0.597	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
SLC27A6	28965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	128302151	128302151	+	Silent	SNP	G	G	T	rs371452698		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:128302151G>T	ENST00000262462.4	+	1	1331	c.321G>T	c.(319-321)acG>acT	p.T107T	SLC27A6_ENST00000395266.1_Silent_p.T107T|SLC27A6_ENST00000506176.1_Silent_p.T107T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	107					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.T107T(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGGGGACACGGTGGCTCTGC	0.542																																					p.T107T		.											.	SLC27A6-90	1	Substitution - coding silent(1)	lung(1)	c.G321T						.						83.0	67.0	72.0					5																	128302151		2203	4300	6503	SO:0001819	synonymous_variant	28965	exon1			GGACACGGTGGCT	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.321G>T	5.37:g.128302151G>T		105	0		86	37	NM_001017372	0	0	0	0	0	Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	CCDS4145.1																																																																																			.		0.542	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
LYRM7	90624	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	130522733	130522733	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:130522733G>T	ENST00000379380.4	+	4	386	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	LYRM7_ENST00000510516.1_Intron|LYRM7_ENST00000507584.1_Intron	NM_181705.2	NP_859056.2	Q5U5X0	LYRM7_HUMAN	LYR motif containing 7	59						mitochondrion (GO:0005739)				upper_aerodigestive_tract(1)	1		all_cancers(142;0.0377)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATGAAAATAGGTTCTGATGT	0.284																																					p.G59C		.											.	LYRM7-68	0			c.G175T						.						98.0	97.0	98.0					5																	130522733		2187	4263	6450	SO:0001583	missense	90624	exon4			AAAATAGGTTCTG	BC047079	CCDS4148.1	5q31.1	2013-05-24	2012-10-23	2006-10-17	ENSG00000186687	ENSG00000186687		"""LYR motif containing"""	28072	protein-coding gene	gene with protein product		615831	"""chromosome 5 open reading frame 31"", ""Lyrm7 homolog (mouse)"""	C5orf31		23168492	Standard	NM_181705		Approved	FLJ20796, MZM1L	uc003kvg.1	Q5U5X0	OTTHUMG00000128994	ENST00000379380.4:c.175G>T	5.37:g.130522733G>T	ENSP00000368688:p.Gly59Cys	143	1		126	29	NM_181705	0	0	0	0	0	A8MPQ9|Q86Y68	Missense_Mutation	SNP	ENST00000379380.4	37	CCDS4148.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995127	0.74703	.	.	ENSG00000186687	ENST00000379380	T	0.76316	-1.01	5.2	5.2	0.72013	.	0.139690	0.47455	D	0.000231	D	0.87406	0.6169	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.87778	0.2610	10	0.62326	D	0.03	-20.4568	16.6282	0.84992	0.0:0.0:1.0:0.0	.	59	Q5U5X0	LYRM7_HUMAN	C	59	ENSP00000368688:G59C	ENSP00000368688:G59C	G	+	1	0	LYRM7	130550632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.299000	0.65716	2.878000	0.98634	0.650000	0.86243	GGT	.		0.284	LYRM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250983.1	NM_181705	
RAD50	10111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	131940656	131940656	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:131940656T>C	ENST00000265335.6	+	16	3070	c.2683T>C	c.(2683-2685)Tcc>Ccc	p.S895P	RAD50_ENST00000378823.3_Missense_Mutation_p.S756P			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	895					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGGAATTATCCACTGAAGT	0.294								Homologous recombination																													p.S895P		.											.	RAD50-229	0			c.T2683C						.						60.0	57.0	58.0					5																	131940656		2203	4300	6503	SO:0001583	missense	10111	exon16			GAATTATCCACTG	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2683T>C	5.37:g.131940656T>C	ENSP00000265335:p.Ser895Pro	196	0		170	33	NM_005732	0	0	0	0	0	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446876	0.43429	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.21361	2.01;2.01	4.46	4.46	0.54185	.	0.195137	0.44688	D	0.000429	T	0.15435	0.0372	L	0.47716	1.5	0.42547	D	0.993095	P	0.40638	0.725	B	0.33750	0.169	T	0.04565	-1.0942	10	0.33940	T	0.23	-4.2645	8.2201	0.31537	0.3163:0.0:0.0:0.6837	.	895	Q92878	RAD50_HUMAN	P	756;895	ENSP00000368100:S756P;ENSP00000265335:S895P	ENSP00000265335:S895P	S	+	1	0	RAD50	131968555	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.088000	0.30877	1.770000	0.52166	0.455000	0.32223	TCC	.		0.294	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
SHROOM1	134549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	132160321	132160321	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:132160321C>A	ENST00000378679.3	-	6	2031	c.1227G>T	c.(1225-1227)caG>caT	p.Q409H	SHROOM1_ENST00000319854.3_Missense_Mutation_p.Q409H|SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	409					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGGGGCCCCTGGGAGGCAT	0.582																																					p.Q409H		.											.	SHROOM1-91	0			c.G1227T						.						76.0	94.0	88.0					5																	132160321		2203	4300	6503	SO:0001583	missense	134549	exon3			GGGCCCCTGGGAG	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1227G>T	5.37:g.132160321C>A	ENSP00000367950:p.Gln409His	103	0		103	50	NM_133456	0	0	0	0	0	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947810	0.18356	.	.	ENSG00000164403	ENST00000378679;ENST00000319854	T;T	0.21543	2.0;2.0	3.54	-4.34	0.03666	.	1.276770	0.05353	N	0.532231	T	0.11067	0.0270	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.32508	-0.9904	10	0.39692	T	0.17	1.1073	6.4047	0.21658	0.0:0.2197:0.1489:0.6314	.	409;409	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	H	409	ENSP00000367950:Q409H;ENSP00000324245:Q409H	ENSP00000324245:Q409H	Q	-	3	2	SHROOM1	132188220	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.330000	0.02675	-1.070000	0.03149	-0.367000	0.07326	CAG	.		0.582	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456	
GDF9	2661	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	132199862	132199862	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:132199862G>A	ENST00000378673.2	-	2	1230	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	UQCRQ_ENST00000378670.3_5'Flank|UQCRQ_ENST00000378667.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.R122W|UQCRQ_ENST00000378665.1_5'Flank|GDF9_ENST00000464378.1_5'UTR			O60383	GDF9_HUMAN	growth differentiation factor 9	122					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.R122W(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTTGTGCCGGGTACAGGGG	0.463																																					p.R122W		.											.	GDF9-227	1	Substitution - Missense(1)	lung(1)	c.C364T						.						110.0	124.0	119.0					5																	132199862		2203	4300	6503	SO:0001583	missense	2661	exon1			TGTGCCGGGTACA		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.364C>T	5.37:g.132199862G>A	ENSP00000367942:p.Arg122Trp	156	1		135	23	NM_005260	0	0	0	0	0	Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870921	0.51695	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.59906	0.23;0.23	5.61	4.69	0.59074	.	0.400271	0.24909	N	0.034632	T	0.28300	0.0699	N	0.08118	0	0.19945	N	0.99994	P	0.40602	0.723	B	0.20577	0.03	T	0.30621	-0.9972	10	0.66056	D	0.02	.	9.2185	0.37362	0.0:0.2824:0.5856:0.1321	.	122	O60383	GDF9_HUMAN	W	122	ENSP00000367942:R122W;ENSP00000296875:R122W	ENSP00000296875:R122W	R	-	1	2	GDF9	132227761	0.970000	0.33590	0.868000	0.34077	0.993000	0.82548	2.291000	0.43540	2.629000	0.89072	0.655000	0.94253	CGG	.		0.463	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260	
TXNDC15	79770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	134235224	134235224	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:134235224T>A	ENST00000358387.4	+	5	1557	c.932T>A	c.(931-933)aTa>aAa	p.I311K	TXNDC15_ENST00000546290.1_Missense_Mutation_p.I288K	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	311					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCGACCAAATAGGCCCTCTT	0.383																																					p.I311K		.											.	TXNDC15-154	0			c.T932A						.						118.0	115.0	116.0					5																	134235224		2203	4300	6503	SO:0001583	missense	79770	exon5			ACCAAATAGGCCC	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.932T>A	5.37:g.134235224T>A	ENSP00000351157:p.Ile311Lys	63	0		89	18	NM_024715	0	0	0	0	0	D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	CCDS4180.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.848|0.848|0.848	-0.739427|-0.739427|-0.739427	0.03088|0.03088|0.03088	.|.|.	.|.|.	ENSG00000113621|ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000546290|ENST00000509954|ENST00000508779	T;T|.|.	0.42900|.|.	0.96;0.97|.|.	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|.|.	0.623617|.|.	0.17589|.|.	N|.|.	0.168826|.|.	T|T|.	0.20047|0.20047|.	0.0482|0.0482|.	N|N|N	0.12182|0.12182|0.12182	0.205|0.205|0.205	0.09310|0.09310|0.09310	N|N|N	1|1|1	B|.|.	0.14438|.|.	0.01|.|.	B|.|.	0.06405|.|.	0.002|.|.	T|T|.	0.15150|0.15150|.	-1.0447|-1.0447|.	10|5|.	0.05436|.|.	T|.|.	0.98|.|.	-15.4228|-15.4228|-15.4228	5.239|5.239|5.239	0.15462|0.15462|0.15462	0.2609:0.0773:0.0:0.6618|0.2609:0.0773:0.0:0.6618|0.2609:0.0773:0.0:0.6618	.|.|.	311|.|.	Q96J42|.|.	TXD15_HUMAN|.|.	K|K|K	295;311;288|65|295	ENSP00000351157:I311K;ENSP00000443942:I288K|.|.	ENSP00000351157:I311K|.|.	I|N|X	+|+|+	2|3|1	0|2|0	TXNDC15|TXNDC15|TXNDC15	134263123|134263123|134263123	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	0.189000|0.189000|0.189000	0.17037|0.17037|0.17037	2.194000|2.194000|2.194000	0.70268|0.70268|0.70268	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	ATA|AAT|TAG	.		0.383	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715	
TRPC7	57113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	135692848	135692848	+	Nonsense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:135692848G>C	ENST00000513104.1	-	2	510	c.228C>G	c.(226-228)taC>taG	p.Y76*	TRPC7_ENST00000426057.2_Nonsense_Mutation_p.Y76*|TRPC7_ENST00000355180.3_Nonsense_Mutation_p.Y76*	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	76					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.Y76*(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGCCCCATGTAGTCCACAC	0.607																																					p.Y76X		.											.	.	2	Substitution - Nonsense(2)	endometrium(2)	c.C228G						.						85.0	96.0	92.0					5																	135692848		2200	4297	6497	SO:0001587	stop_gained	57113	exon2			CCCCATGTAGTCC	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.228C>G	5.37:g.135692848G>C	ENSP00000426070:p.Tyr76*	158	0		167	28	NM_001167576	0	0	0	0	0	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Nonsense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.431091|5.431091	0.96150|0.96150	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|.	.|.	.|.	5.0|5.0	3.18|3.18	0.36537|0.36537	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.22704|.	0.0548|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31806|.	-0.9930|.	3|.	.|0.02654	.|T	.|1	-20.7674|-20.7674	9.466|9.466	0.38813|0.38813	0.2833:0.0:0.7167:0.0|0.2833:0.0:0.7167:0.0	.|.	.|.	.|.	.|.	D|X	76|76	.|.	.|ENSP00000265193:Y76X	H|Y	-|-	1|3	0|2	TRPC7|TRPC7	135720747|135720747	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.919000|0.919000	0.28692|0.28692	1.344000|1.344000	0.45657|0.45657	0.561000|0.561000	0.74099|0.74099	CAT|TAC	.		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
TRPC7	57113	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	135692905	135692905	+	Silent	SNP	C	C	A	rs372427444		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:135692905C>A	ENST00000513104.1	-	2	453	c.171G>T	c.(169-171)ccG>ccT	p.P57P	TRPC7_ENST00000426057.2_Silent_p.P57P|TRPC7_ENST00000355180.3_Silent_p.P57P	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	57					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCGGACCACCGGGATGTTGC	0.607																																					p.P57P		.											.	.	0			c.G171T						.						95.0	107.0	103.0					5																	135692905		2161	4277	6438	SO:0001819	synonymous_variant	57113	exon2			GACCACCGGGATG	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.171G>T	5.37:g.135692905C>A		158	1		150	33	NM_001167576	0	0	0	0	0	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	7.120	0.577765	0.13686	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.2	-10.4	0.00318	.	.	.	.	.	T	0.31040	0.0784	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	-18.1038	1.1571	0.01798	0.3075:0.1523:0.1388:0.4014	.	.	.	.	C	57	.	.	G	-	1	0	TRPC7	135720804	0.000000	0.05858	0.113000	0.21522	0.995000	0.86356	-9.352000	0.00012	-2.615000	0.00443	0.655000	0.94253	GGT	.		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
EGR1	1958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	137802588	137802588	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:137802588G>T	ENST00000239938.4	+	2	722	c.450G>T	c.(448-450)tgG>tgT	p.W150C		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	150					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.W150*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACACCTTGTGGCCCGAGCCCC	0.632																																					p.W150C		.											.	EGR1-227	1	Substitution - Nonsense(1)	large_intestine(1)	c.G450T						.						94.0	99.0	97.0					5																	137802588		2203	4300	6503	SO:0001583	missense	1958	exon2			CTTGTGGCCCGAG	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.450G>T	5.37:g.137802588G>T	ENSP00000239938:p.Trp150Cys	106	0		109	17	NM_001964	0	0	0	0	0		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621211	0.66787	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.38560	1.13	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	M	0.64404	1.975	0.80722	D	1	B	0.32543	0.375	B	0.34242	0.178	T	0.46512	-0.9186	10	0.44086	T	0.13	-5.869	18.0413	0.89319	0.0:0.0:1.0:0.0	.	150	P18146	EGR1_HUMAN	C	150	ENSP00000239938:W150C	ENSP00000239938:W150C	W	+	3	0	EGR1	137830487	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.876000	0.87215	2.251000	0.74343	0.462000	0.41574	TGG	.		0.632	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964	
PCDHA1	56147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140167127	140167127	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140167127C>T	ENST00000504120.2	+	1	1252	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	PCDHA1_ENST00000394633.3_Silent_p.L418L|PCDHA1_ENST00000378133.3_Silent_p.L418L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGAGAGCCTGTCGGTCTA	0.622																																					p.L418L		.											.	PCDHA1-23	0			c.C1252T						.						126.0	123.0	124.0					5																	140167127		2203	4300	6503	SO:0001819	synonymous_variant	56147	exon1			GAGAGCCTGTCGG	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1252C>T	5.37:g.140167127C>T		132	0		245	60	NM_031411	0	0	0	0	0	O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	CCDS54913.1																																																																																			.		0.622	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHA2	56146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140176290	140176290	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140176290G>C	ENST00000526136.1	+	1	1741	c.1741G>C	c.(1741-1743)Gtg>Ctg	p.V581L	PCDHA2_ENST00000520672.2_Missense_Mutation_p.V581L|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V581L	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	581					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTGAGCTGGTGCCGTGGTC	0.662																																					p.V581L		.											.	PCDHA2-94	0			c.G1741C						.						111.0	103.0	106.0					5																	140176290		2203	4299	6502	SO:0001583	missense	56146	exon1			GAGCTGGTGCCGT	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1741G>C	5.37:g.140176290G>C	ENSP00000431748:p.Val581Leu	90	0		412	98	NM_031495	0	0	0	0	0	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	3.588	-0.084122	0.07097	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.44881	0.91;0.91;0.91	3.91	2.96	0.34315	Cadherin (1);Cadherin-like (1);	0.000000	0.35870	U	0.002928	T	0.28962	0.0719	N	0.25245	0.725	0.26191	N	0.979583	B;B;B	0.31256	0.316;0.237;0.316	B;B;B	0.30495	0.101;0.116;0.101	T	0.33033	-0.9884	10	0.52906	T	0.07	.	12.9003	0.58121	0.0:0.0:0.8377:0.1623	.	581;581;581	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	581	ENSP00000430584:V581L;ENSP00000367372:V581L;ENSP00000431748:V581L	ENSP00000367372:V581L	V	+	1	0	PCDHA2	140156474	0.025000	0.19082	0.078000	0.20375	0.005000	0.04900	0.868000	0.27982	1.917000	0.55516	0.549000	0.68633	GTG	.		0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHA3	56145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140181421	140181421	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140181421A>T	ENST00000522353.2	+	1	639	c.639A>T	c.(637-639)acA>acT	p.T213T	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.T213T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTAATAACAGCAATTGATG	0.398																																					p.T213T		.											.	PCDHA3-98	0			c.A639T						.						60.0	63.0	62.0					5																	140181421		2203	4300	6503	SO:0001819	synonymous_variant	56145	exon1			AATAACAGCAATT	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.639A>T	5.37:g.140181421A>T		71	0		51	24	NM_031497	0	0	0	0	0	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																			.		0.398	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA4	56144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140187138	140187138	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140187138G>A	ENST00000530339.1	+	1	366	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.E122E|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.E122E	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	122	Cadherin 1. {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)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGTGGAGGTGAGGGACA	0.602																																					p.E122E		.											.	PCDHA4-96	0			c.G366A						.						75.0	78.0	77.0					5																	140187138		2203	4300	6503	SO:0001819	synonymous_variant	56144	exon1			CGTGGAGGTGAGG	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.366G>A	5.37:g.140187138G>A		263	0		234	59	NM_031500	0	0	0	0	0	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			.		0.602	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHA6	56142	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140208235	140208235	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140208235G>A	ENST00000529310.1	+	1	673	c.559G>A	c.(559-561)Gat>Aat	p.D187N	PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D187N|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAAACAGTGATGACAATAA	0.443																																					p.D187N		.											.	PCDHA6-92	0			c.G559A						.						67.0	72.0	70.0					5																	140208235		2203	4300	6503	SO:0001583	missense	56142	exon1			AACAGTGATGACA	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.559G>A	5.37:g.140208235G>A	ENSP00000433378:p.Asp187Asn	111	1		118	27	NM_031849	0	0	0	0	0	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	9.792	1.178095	0.21787	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.19938	2.11;2.11	3.87	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.682376	0.11747	U	0.533374	T	0.24928	0.0605	M	0.73217	2.22	0.09310	N	1	B;B;B	0.19706	0.03;0.038;0.016	B;B;B	0.28709	0.056;0.093;0.028	T	0.16424	-1.0403	10	0.48119	T	0.1	.	5.904	0.18982	0.111:0.3654:0.5236:0.0	.	187;187;187	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	N	187	ENSP00000433378:D187N;ENSP00000434113:D187N	ENSP00000434113:D187N	D	+	1	0	PCDHA6	140188419	0.964000	0.33143	0.999000	0.59377	0.620000	0.37586	3.103000	0.50298	2.139000	0.66308	0.313000	0.20887	GAT	.		0.443	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHA8	56140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140223235	140223235	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140223235C>A	ENST00000531613.1	+	1	2329	c.2329C>A	c.(2329-2331)Cct>Act	p.P777T	PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P777T|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	777	5 X 4 AA repeats of P-X-X-P.				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)			CCCCTGCCTTCCTCCTGATCT	0.502																																					p.P777T		.											.	PCDHA8-92	0			c.C2329A						.						56.0	57.0	57.0					5																	140223235		2196	4263	6459	SO:0001583	missense	56140	exon1			TGCCTTCCTCCTG	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.2329C>A	5.37:g.140223235C>A	ENSP00000434655:p.Pro777Thr	475	0		490	102	NM_031856	0	0	0	0	0	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	9.334	1.061294	0.19987	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.12774	2.65;2.65	3.06	3.06	0.35304	.	0.211711	0.23325	N	0.049414	T	0.19805	0.0476	M	0.72118	2.19	0.31866	N	0.620402	B;P	0.36027	0.009;0.533	B;B	0.39805	0.052;0.31	T	0.21586	-1.0241	10	0.54805	T	0.06	.	12.3432	0.55105	0.0:1.0:0.0:0.0	.	777;777	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	777	ENSP00000434655:P777T;ENSP00000367363:P777T	ENSP00000367363:P777T	P	+	1	0	PCDHA8	140203419	0.136000	0.22515	0.315000	0.25238	0.468000	0.32798	0.864000	0.27926	1.692000	0.51112	0.460000	0.39030	CCT	.		0.502	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHA10	56139	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140237814	140237814	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140237814G>T	ENST00000307360.5	+	1	2181	c.2181G>T	c.(2179-2181)gaG>gaT	p.E727D	PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	727					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCACCGAGGGCGCATGTG	0.657																																					p.E727D		.											.	PCDHA10-99	0			c.G2181T						.						27.0	26.0	27.0					5																	140237814		1321	2290	3611	SO:0001583	missense	56139	exon1			CACCGAGGGCGCA	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2181G>T	5.37:g.140237814G>T	ENSP00000304234:p.Glu727Asp	73	1		309	164	NM_031859	0	0	0	0	0	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.463691	0.01062	.	.	ENSG00000250120	ENST00000307360	T	0.13538	2.58	3.66	0.856	0.19019	.	.	.	.	.	T	0.10465	0.0256	L	0.49699	1.58	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.20384	0.029;0.005	T	0.41324	-0.9515	9	0.15499	T	0.54	.	3.4076	0.07347	0.3494:0.2009:0.4497:0.0	.	727;727	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	D	727	ENSP00000304234:E727D	ENSP00000304234:E727D	E	+	3	2	PCDHA10	140217998	0.016000	0.18221	0.682000	0.30024	0.048000	0.14542	0.162000	0.16501	0.343000	0.23821	-0.339000	0.08088	GAG	.		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHA11	56138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140249406	140249406	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140249406C>A	ENST00000398640.2	+	1	718	c.718C>A	c.(718-720)Cca>Aca	p.P240T	PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	240	Cadherin 2. {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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAATGATCCAGAGTTTGA	0.448																																					p.P240T		.											.	PCDHA11-67	0			c.C718A						.						28.0	27.0	27.0					5																	140249406		1876	4125	6001	SO:0001583	missense	56138	exon1			AATGATCCAGAGT	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.718C>A	5.37:g.140249406C>A	ENSP00000381636:p.Pro240Thr	156	0		153	66	NM_018902	0	0	0	0	0	B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647264	0.47258	.	.	ENSG00000249158	ENST00000398640	D	0.84730	-1.89	5.71	5.71	0.89125	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.96546	0.8873	H	0.99697	4.71	0.52501	D	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98196	1.0465	9	0.87932	D	0	.	19.8557	0.96758	0.0:1.0:0.0:0.0	.	240;240	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	240	ENSP00000381636:P240T	ENSP00000381636:P240T	P	+	1	0	PCDHA11	140229590	1.000000	0.71417	0.996000	0.52242	0.096000	0.18686	7.275000	0.78548	2.707000	0.92482	0.655000	0.94253	CCA	.		0.448	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHB1	29930	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140433080	140433080	+	Missense_Mutation	SNP	G	G	C	rs36090285	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140433080G>C	ENST00000306549.3	+	1	2102	c.2025G>C	c.(2023-2025)caG>caC	p.Q675H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	675					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTTCCAGGATCCAACCA	0.448																																					p.Q675H		.											.	PCDHB1-90	0			c.G2025C						.						153.0	150.0	151.0					5																	140433080		2203	4300	6503	SO:0001583	missense	29930	exon1			GTTCCAGGATCCA	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2025G>C	5.37:g.140433080G>C	ENSP00000307234:p.Gln675His	191	0		150	73	NM_013340	0	0	0	0	0	Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	9.365	1.068893	0.20147	.	.	ENSG00000171815	ENST00000306549	T	0.50277	0.75	6.08	3.11	0.35812	.	0.327071	0.21112	N	0.079961	T	0.30008	0.0751	N	0.22421	0.69	0.24268	N	0.995254	B	0.09022	0.002	B	0.08055	0.003	T	0.19160	-1.0314	10	0.72032	D	0.01	.	5.9767	0.19385	0.0711:0.2476:0.554:0.1274	.	675	Q9Y5F3	PCDB1_HUMAN	H	675	ENSP00000307234:Q675H	ENSP00000307234:Q675H	Q	+	3	2	PCDHB1	140413264	0.334000	0.24739	0.959000	0.39883	0.914000	0.54420	0.914000	0.28624	1.564000	0.49628	0.655000	0.94253	CAG	G|0.995;A|0.005		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
PCDHB4	56131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140502574	140502574	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140502574G>A	ENST00000194152.1	+	1	994	c.994G>A	c.(994-996)Gta>Ata	p.V332I	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	332	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAAGGCACTGTAGTCATAGA	0.413																																					p.V332I		.											.	PCDHB4-93	0			c.G994A						.						167.0	181.0	176.0					5																	140502574		2203	4300	6503	SO:0001583	missense	56131	exon1			GGCACTGTAGTCA	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.994G>A	5.37:g.140502574G>A	ENSP00000194152:p.Val332Ile	175	0		157	63	NM_018938	0	0	0	0	0	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811115	0.50421	.	.	ENSG00000081818	ENST00000194152	T	0.59906	0.23	4.41	4.41	0.53225	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.62368	0.2422	L	0.56396	1.775	0.40843	D	0.98368	B	0.22983	0.078	B	0.36766	0.232	T	0.65059	-0.6260	9	0.52906	T	0.07	.	17.5536	0.87884	0.0:0.0:1.0:0.0	.	332	Q9Y5E5	PCDB4_HUMAN	I	332	ENSP00000194152:V332I	ENSP00000194152:V332I	V	+	1	0	PCDHB4	140482758	0.777000	0.28628	0.948000	0.38648	0.937000	0.57800	1.358000	0.34102	2.449000	0.82847	0.650000	0.86243	GTA	.		0.413	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
PCDHB16	57717	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140562215	140562215	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140562215C>T	ENST00000361016.2	+	1	1236	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	27					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGGGCGGGCGCCGAGTTGG	0.488																																					p.G27G		.											.	PCDHB16-92	0			c.C81T						.						103.0	121.0	115.0					5																	140562215		2203	4300	6503	SO:0001819	synonymous_variant	57717	exon1			GGCGGGCGCCGAG	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.81C>T	5.37:g.140562215C>T		140	0		130	46	NM_020957	0	0	0	0	0	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																			.		0.488	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB16	57717	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	140562775	140562775	+	Missense_Mutation	SNP	C	C	G	rs139379718	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140562775C>G	ENST00000361016.2	+	1	1796	c.641C>G	c.(640-642)gCg>gGg	p.A214G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	214	Cadherin 2. {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(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCTGACAGCGCTGGATGGT	0.507																																					p.A214G		.											.	PCDHB16-92	0			c.C641G						.						65.0	65.0	65.0					5																	140562775		2203	4300	6503	SO:0001583	missense	57717	exon1			TGACAGCGCTGGA	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.641C>G	5.37:g.140562775C>G	ENSP00000354293:p.Ala214Gly	88	0		65	13	NM_020957	0	0	0	0	0	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417484	0.62622	.	.	ENSG00000196963	ENST00000361016	T	0.37235	1.21	4.69	4.69	0.59074	Cadherin (4);Cadherin-like (1);	0.000000	0.34200	N	0.004161	T	0.73583	0.3605	H	0.97077	3.935	0.51482	D	0.999925	D	0.89917	1.0	D	0.97110	1.0	D	0.84576	0.0658	10	0.87932	D	0	.	17.6048	0.88035	0.0:1.0:0.0:0.0	.	214	Q9NRJ7	PCDBG_HUMAN	G	214	ENSP00000354293:A214G	ENSP00000354293:A214G	A	+	2	0	PCDHB16	140542959	1.000000	0.71417	0.138000	0.22173	0.050000	0.14768	6.011000	0.70760	2.139000	0.66308	0.655000	0.94253	GCG	C|0.997;T|0.003		0.507	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB16	57717	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140562794	140562794	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140562794A>T	ENST00000361016.2	+	1	1815	c.660A>T	c.(658-660)ccA>ccT	p.P220P		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	220	Cadherin 2. {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(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGGCTCTCCACCGCGATCTG	0.512																																					p.P220P		.											.	PCDHB16-92	0			c.A660T						.						65.0	64.0	64.0					5																	140562794		2203	4300	6503	SO:0001819	synonymous_variant	57717	exon1			CTCTCCACCGCGA	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.660A>T	5.37:g.140562794A>T		94	0		73	12	NM_020957	0	0	0	0	0	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																			.		0.512	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB16	57717	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	5	140563800	140563800	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140563800G>T	ENST00000361016.2	+	1	2821	c.1666G>T	c.(1666-1668)Gac>Tac	p.D556Y		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	556	Cadherin 5. {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(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGCCAACGACAACTCGCC	0.711																																					p.D556Y		.											.	PCDHB16-92	0			c.G1666T						.						11.0	12.0	12.0					5																	140563800		1867	3734	5601	SO:0001583	missense	57717	exon1			GCCAACGACAACT	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1666G>T	5.37:g.140563800G>T	ENSP00000354293:p.Asp556Tyr	22	0		222	90	NM_020957	0	0	0	0	0	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	26.4	4.738326	0.89573	.	.	ENSG00000196963	ENST00000361016	T	0.76316	-1.01	4.12	4.12	0.48240	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.36374	N	0.002625	D	0.93539	0.7938	H	0.99752	4.75	0.51767	D	0.999939	D	0.89917	1.0	D	0.80764	0.994	D	0.96772	0.9569	10	0.87932	D	0	.	16.0538	0.80779	0.0:0.0:1.0:0.0	.	556	Q9NRJ7	PCDBG_HUMAN	Y	556	ENSP00000354293:D556Y	ENSP00000354293:D556Y	D	+	1	0	PCDHB16	140543984	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.422000	0.80217	1.860000	0.53959	0.479000	0.44913	GAC	.		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB10	56126	broad.mit.edu;mdanderson.org	37	5	140573502	140573502	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140573502C>A	ENST00000239446.4	+	1	1561	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	459	Cadherin 5. {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)			ACACCCTGTTCGTCCGCGAGA	0.632																																					p.F459L		.											.	PCDHB10-92	0			c.C1377A						.						45.0	50.0	48.0					5																	140573502		2203	4290	6493	SO:0001583	missense	56126	exon1			CCTGTTCGTCCGC	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.1377C>A	5.37:g.140573502C>A	ENSP00000239446:p.Phe459Leu	86	0		134	34	NM_018930	0	0	0	0	0	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	5.920	0.353741	0.11182	.	.	ENSG00000120324	ENST00000239446	T	0.02974	4.09	3.22	-5.62	0.02481	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03178	0.0093	L	0.39514	1.22	0.09310	N	1	B	0.15930	0.015	B	0.21917	0.037	T	0.35475	-0.9787	9	0.62326	D	0.03	.	12.0358	0.53425	0.0:0.1862:0.6593:0.1544	.	459	Q9UN67	PCDBA_HUMAN	L	459	ENSP00000239446:F459L	ENSP00000239446:F459L	F	+	3	2	PCDHB10	140553686	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	-7.055000	0.00045	-1.507000	0.01803	-0.274000	0.10170	TTC	.		0.632	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB10	56126	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	5	140573565	140573565	+	Silent	SNP	G	G	T	rs17844567	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140573565G>T	ENST00000239446.4	+	1	1624	c.1440G>T	c.(1438-1440)tcG>tcT	p.S480S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	480	Cadherin 5. {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)	p.S480S(1)		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)			ACAGAGACTCGGGCACCAACG	0.672																																					p.S480S		.											.	PCDHB10-92	1	Substitution - coding silent(1)	lung(1)	c.G1440T						.						63.0	76.0	71.0					5																	140573565		2202	4298	6500	SO:0001819	synonymous_variant	56126	exon1			AGACTCGGGCACC	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.1440G>T	5.37:g.140573565G>T		141	0		241	63	NM_018930	0	0	0	0	0	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																			G|0.680;A|0.320		0.672	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB10	56126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140574448	140574448	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140574448G>T	ENST00000239446.4	+	1	2507	c.2323G>T	c.(2323-2325)Gat>Tat	p.D775Y		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	775					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)			AGTTATTTCGGATATTCAGGC	0.483																																					p.D775Y		.											.	PCDHB10-92	0			c.G2323T						.						58.0	66.0	63.0					5																	140574448		2203	4300	6503	SO:0001583	missense	56126	exon1			ATTTCGGATATTC	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.2323G>T	5.37:g.140574448G>T	ENSP00000239446:p.Asp775Tyr	172	0		141	55	NM_018930	0	0	0	0	0	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	8.509	0.866014	0.17250	.	.	ENSG00000120324	ENST00000239446	T	0.49720	0.77	3.61	-0.548	0.11833	.	.	.	.	.	T	0.37210	0.0995	L	0.48362	1.52	0.09310	N	1	B	0.17667	0.023	B	0.24974	0.057	T	0.41413	-0.9510	9	0.87932	D	0	.	3.9329	0.09293	0.551:0.1933:0.2558:0.0	.	775	Q9UN67	PCDBA_HUMAN	Y	775	ENSP00000239446:D775Y	ENSP00000239446:D775Y	D	+	1	0	PCDHB10	140554632	0.008000	0.16893	0.000000	0.03702	0.016000	0.09150	1.237000	0.32695	-0.180000	0.10637	0.461000	0.40582	GAT	.		0.483	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB13	56123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140595009	140595009	+	Silent	SNP	C	C	G	rs201145725		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140595009C>G	ENST00000341948.4	+	1	1501	c.1314C>G	c.(1312-1314)acC>acG	p.T438T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	438	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T438>?(1)		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)			TCAATATGACCGTGCTGATCG	0.547																																					p.T438T		.											.	PCDHB13-93	1	Complex(1)	lung(1)	c.C1314G						.						145.0	128.0	134.0					5																	140595009		2203	4300	6503	SO:0001819	synonymous_variant	56123	exon1			TATGACCGTGCTG	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.1314C>G	5.37:g.140595009C>G		235	0		227	46	NM_018933	0	0	0	0	0	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																			C|0.999;T|0.000		0.547	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHB13	56123	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140595284	140595284	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140595284G>T	ENST00000341948.4	+	1	1776	c.1589G>T	c.(1588-1590)cGc>cTc	p.R530L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	530	Cadherin 5. {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)			TTCCAGTTCCGCGTGGGCGCT	0.672																																					p.R530L		.											.	PCDHB13-93	0			c.G1589T						.						58.0	66.0	63.0					5																	140595284		2203	4300	6503	SO:0001583	missense	56123	exon1			AGTTCCGCGTGGG	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.1589G>T	5.37:g.140595284G>T	ENSP00000345491:p.Arg530Leu	184	1		443	198	NM_018933	0	0	0	0	0	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	9.988	1.230044	0.22542	.	.	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.01665	4.7	3.42	-2.6	0.06190	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00906	0.0030	N	0.11341	0.13	0.09310	N	1	B	0.18968	0.032	B	0.19666	0.026	T	0.48948	-0.8989	9	0.18710	T	0.47	.	1.2558	0.01991	0.348:0.254:0.2743:0.1237	.	530	Q9Y5F0	PCDBD_HUMAN	L	530	ENSP00000345491:R530L	ENSP00000345491:R530L	R	+	2	0	PCDHB13	140575468	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-2.201000	0.01236	-0.204000	0.10235	-0.556000	0.04195	CGC	.		0.672	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHB14	56122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140604121	140604121	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140604121C>A	ENST00000239449.4	+	1	1044	c.1044C>A	c.(1042-1044)acC>acA	p.T348T	PCDHB14_ENST00000515856.2_Silent_p.T195T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	348					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)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAAGTGACCATATCGTCGA	0.423																																					p.T348T	Ovarian(141;50 1831 27899 33809 37648)	.											.	PCDHB14-91	0			c.C1044A						.						87.0	95.0	92.0					5																	140604121		2203	4300	6503	SO:0001819	synonymous_variant	56122	exon1			AGTGACCATATCG	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1044C>A	5.37:g.140604121C>A		81	0		76	11	NM_018934	0	0	0	0	0	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																			.		0.423	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934	
PCDHB15	56121	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140625197	140625197	+	Silent	SNP	C	C	A	rs149965698	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140625197C>A	ENST00000231173.3	+	1	51	c.51C>A	c.(49-51)ctC>ctA	p.L17L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	17					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGATTCTCCTTCTTTTAC	0.522																																					p.L17L		.											.	PCDHB15-156	0			c.C51A						.						67.0	73.0	71.0					5																	140625197		2203	4300	6503	SO:0001819	synonymous_variant	56121	exon1			GATTCTCCTTCTT	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.51C>A	5.37:g.140625197C>A		66	1		64	30	NM_018935	0	0	0	0	0	Q8IUX5	Silent	SNP	ENST00000231173.3	37	CCDS4257.1																																																																																			C|1.000;T|0.000		0.522	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935	
PCDHGA1	56114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140710828	140710828	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140710828G>C	ENST00000517417.1	+	1	577	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E193Q	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	193	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)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAACATCCAGAGATGGTGCT	0.542																																					p.E193Q		.											.	PCDHGA1-137	0			c.G577C						.						79.0	72.0	75.0					5																	140710828		2203	4300	6503	SO:0001583	missense	56114	exon1			CATCCAGAGATGG	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.577G>C	5.37:g.140710828G>C	ENSP00000431083:p.Glu193Gln	99	0		89	20	NM_018912	0	0	0	0	0	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140315	0.77775	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.21932	1.98;1.98	4.2	4.2	0.49525	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000136	T	0.52517	0.1739	M	0.89353	3.025	0.32425	N	0.548771	D;D	0.76494	0.997;0.999	D;D	0.70487	0.969;0.967	T	0.69584	-0.5106	10	0.87932	D	0	.	16.7229	0.85414	0.0:0.0:1.0:0.0	.	193;193	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	Q	193	ENSP00000431083:E193Q;ENSP00000367345:E193Q	ENSP00000367345:E193Q	E	+	1	0	PCDHGA1	140691012	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.751000	0.85126	2.349000	0.79799	0.655000	0.94253	GAG	.		0.542	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA2	56113	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140720729	140720729	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140720729A>T	ENST00000394576.2	+	1	2191	c.2191A>T	c.(2191-2193)Agc>Tgc	p.S731C	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	731					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGGAGGCAGCTTGACAGG	0.652																																					p.S731C		.											.	PCDHGA2-71	0			c.A2191T						.						80.0	84.0	83.0					5																	140720729		2203	4300	6503	SO:0001583	missense	56113	exon1			GGAGGCAGCTTGA	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2191A>T	5.37:g.140720729A>T	ENSP00000378077:p.Ser731Cys	191	1		209	93	NM_018915	0	0	0	0	0	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.721226	0.48728	.	.	ENSG00000081853	ENST00000394576	T	0.50277	0.75	4.89	-7.17	0.01511	.	1.955520	0.03685	U	0.246159	T	0.45617	0.1351	L	0.43923	1.385	0.09310	N	1	P;P	0.40050	0.663;0.7	P;P	0.52267	0.694;0.474	T	0.54840	-0.8233	10	0.62326	D	0.03	.	1.5583	0.02589	0.246:0.2507:0.3341:0.1692	.	731;731	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	C	731	ENSP00000378077:S731C	ENSP00000378077:S731C	S	+	1	0	PCDHGA2	140700913	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.915000	0.04033	-1.024000	0.03338	-1.338000	0.01255	AGC	.		0.652	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGA2	56113	broad.mit.edu;bcgsc.ca	37	5	140720802	140720802	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140720802A>T	ENST00000394576.2	+	1	2264	c.2264A>T	c.(2263-2265)cAc>cTc	p.H755L	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	755					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTATTCCCACGAGGTCTCC	0.602																																					p.H755L		.											.	PCDHGA2-71	0			c.A2264T						.						74.0	79.0	77.0					5																	140720802		2203	4297	6500	SO:0001583	missense	56113	exon1			ATTCCCACGAGGT	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2264A>T	5.37:g.140720802A>T	ENSP00000378077:p.His755Leu	186	2		199	81	NM_018915	0	0	0	0	0	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	17.73	3.460940	0.63513	.	.	ENSG00000081853	ENST00000394576	T	0.45668	0.89	5.39	5.39	0.77823	.	0.000000	0.42964	U	0.000639	T	0.70587	0.3241	M	0.93763	3.455	0.29006	N	0.887179	P;D	0.62365	0.949;0.991	P;P	0.61592	0.837;0.891	T	0.74711	-0.3573	10	0.87932	D	0	.	15.0706	0.72034	1.0:0.0:0.0:0.0	.	755;755	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	L	755	ENSP00000378077:H755L	ENSP00000378077:H755L	H	+	2	0	PCDHGA2	140700986	0.999000	0.42202	0.997000	0.53966	0.051000	0.14879	8.314000	0.89980	2.051000	0.60960	0.402000	0.26972	CAC	.		0.602	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGA3	56112	broad.mit.edu;mdanderson.org	37	5	140725478	140725478	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140725478G>T	ENST00000253812.6	+	1	1878	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	626	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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGAGGTGCGCACGGCGC	0.701																																					p.V626V		.											.	PCDHGA3-68	0			c.G1878T						.						8.0	12.0	11.0					5																	140725478		2003	4010	6013	SO:0001819	synonymous_variant	56112	exon1			CGAGGTGCGCACG	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1878G>T	5.37:g.140725478G>T		74	0		435	69	NM_032011	0	0	0	0	0	Q9Y5D4	Silent	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																			.		0.701	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
PCDHGB1	56104	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140730366	140730366	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140730366A>T	ENST00000523390.1	+	1	539	c.539A>T	c.(538-540)aAg>aTg	p.K180M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	180	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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCAACGAAGGAAAGTCCT	0.428																																					p.K180M		.											.	PCDHGB1-33	0			c.A539T						.						178.0	174.0	175.0					5																	140730366		1883	4112	5995	SO:0001583	missense	56104	exon1			CAACGAAGGAAAG	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.539A>T	5.37:g.140730366A>T	ENSP00000429273:p.Lys180Met	170	1		122	36	NM_018922	0	0	0	0	0	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	14.53	2.563036	0.45694	.	.	ENSG00000254221	ENST00000523390	T	0.21361	2.01	5.36	5.36	0.76844	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54967	0.1891	M	0.91300	3.195	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.934;0.964	T	0.56691	-0.7937	9	0.62326	D	0.03	.	15.3157	0.74074	1.0:0.0:0.0:0.0	.	180;180	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	M	180	ENSP00000429273:K180M	ENSP00000429273:K180M	K	+	2	0	PCDHGB1	140710550	0.090000	0.21635	0.738000	0.30950	0.983000	0.72400	3.262000	0.51538	2.152000	0.67230	0.460000	0.39030	AAG	.		0.428	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
PCDHGB1	56104	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140731133	140731133	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140731133C>A	ENST00000523390.1	+	1	1306	c.1306C>A	c.(1306-1308)Ctg>Atg	p.L436M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	436	Cadherin 4. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCATCACCCTGCACATCTC	0.552																																					p.L436M		.											.	PCDHGB1-33	0			c.C1306A						.						91.0	104.0	100.0					5																	140731133		2179	4279	6458	SO:0001583	missense	56104	exon1			ATCACCCTGCACA	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1306C>A	5.37:g.140731133C>A	ENSP00000429273:p.Leu436Met	170	0		161	76	NM_018922	0	0	0	0	0	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	7.932	0.740984	0.15642	.	.	ENSG00000254221	ENST00000523390	T	0.21734	1.99	5.49	0.136	0.14780	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.48926	0.1527	M	0.92555	3.32	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.982;0.989	T	0.28106	-1.0054	9	0.72032	D	0.01	.	5.9339	0.19154	0.2075:0.4103:0.3181:0.0641	.	436;436	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	M	436	ENSP00000429273:L436M	ENSP00000429273:L436M	L	+	1	2	PCDHGB1	140711317	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-1.936000	0.01549	0.025000	0.15241	0.563000	0.77884	CTG	.		0.552	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
PCDHGB1	56104	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140731260	140731260	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140731260G>T	ENST00000523390.1	+	1	1433	c.1433G>T	c.(1432-1434)gGa>gTa	p.G478V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	478	Cadherin 5. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGATTTGGGACCCAACGGC	0.607																																					p.G478V		.											.	PCDHGB1-33	0			c.G1433T						.						39.0	44.0	43.0					5																	140731260		1945	4155	6100	SO:0001583	missense	56104	exon1			ATTTGGGACCCAA	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1433G>T	5.37:g.140731260G>T	ENSP00000429273:p.Gly478Val	127	0		120	71	NM_018922	0	0	0	0	0	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.525701	0.44969	.	.	ENSG00000254221	ENST00000523390	T	0.67523	-0.27	5.49	4.39	0.52855	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.86961	0.6059	H	0.97540	4.025	0.26256	N	0.978645	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.79427	-0.1808	9	0.59425	D	0.04	.	10.6094	0.45412	0.1619:0.0:0.8381:0.0	.	478;478	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	V	478	ENSP00000429273:G478V	ENSP00000429273:G478V	G	+	2	0	PCDHGB1	140711444	0.430000	0.25538	0.889000	0.34880	0.980000	0.70556	1.059000	0.30517	2.740000	0.93945	0.563000	0.77884	GGA	.		0.607	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
PCDHGA5	56110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140744142	140744142	+	Missense_Mutation	SNP	G	G	T	rs372313739		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140744142G>T	ENST00000518069.1	+	1	245	c.245G>T	c.(244-246)gGc>gTc	p.G82V	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	82	Cadherin 1. {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(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAAGCGGCAGCTTGGTC	0.602																																					p.G82V		.											.	PCDHGA5-35	0			c.G245T						.						52.0	62.0	59.0					5																	140744142		2191	4298	6489	SO:0001583	missense	56110	exon1			GAAGCGGCAGCTT	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.245G>T	5.37:g.140744142G>T	ENSP00000429834:p.Gly82Val	119	0		113	30	NM_032054	0	0	0	0	0	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	17.87	3.495515	0.64186	.	.	ENSG00000253485	ENST00000518069	T	0.41400	1.0	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82834	0.5123	H	0.99922	4.955	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.91246	0.5025	9	0.87932	D	0	.	19.1672	0.93562	0.0:0.0:1.0:0.0	.	82;82	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	V	82	ENSP00000429834:G82V	ENSP00000429834:G82V	G	+	2	0	PCDHGA5	140724326	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.005000	0.88553	2.694000	0.91930	0.558000	0.71614	GGC	.		0.602	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
PCDHGA5	56110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140745589	140745589	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140745589C>T	ENST00000518069.1	+	1	1692	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	564					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCCTGTACCCCGCCCTCC	0.617																																					p.Y564Y		.											.	PCDHGA5-35	0			c.C1692T						.						145.0	158.0	154.0					5																	140745589		2203	4300	6503	SO:0001819	synonymous_variant	56110	exon1			CCTGTACCCCGCC	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1692C>T	5.37:g.140745589C>T		247	0		235	96	NM_032054	0	0	0	0	0	Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	CCDS54925.1																																																																																			.		0.617	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
PCDHGA6	56109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140753654	140753654	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140753654G>T	ENST00000517434.1	+	1	4	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	2					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGTAATGGCGCCTCCGCA	0.567																																					p.A2S		.											.	PCDHGA6-67	0			c.G4T						.						10.0	12.0	11.0					5																	140753654		1922	4137	6059	SO:0001583	missense	56109	exon1			GTAATGGCGCCTC	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.4G>T	5.37:g.140753654G>T	ENSP00000429601:p.Ala2Ser	161	0		215	46	NM_018919	0	0	0	0	0	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	18.72	3.684704	0.68157	.	.	ENSG00000253731	ENST00000517434	T	0.44083	0.93	5.14	5.14	0.70334	.	.	.	.	.	T	0.54498	0.1862	L	0.45422	1.42	0.23496	N	0.997555	D;D	0.61697	0.967;0.99	D;P	0.63113	0.911;0.856	T	0.44667	-0.9313	9	0.36615	T	0.2	.	15.8172	0.78612	0.0:0.0:1.0:0.0	.	2;2	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	S	2	ENSP00000429601:A2S	ENSP00000429601:A2S	A	+	1	0	PCDHGA6	140733838	0.996000	0.38824	1.000000	0.80357	0.593000	0.36681	2.510000	0.45468	2.823000	0.97156	0.591000	0.81541	GCG	.		0.567	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919	
PCDHGA7	56108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140762550	140762550	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140762550A>G	ENST00000518325.1	+	1	84	c.84A>G	c.(82-84)gcA>gcG	p.A28A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	28					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCTGGGCAGGACGTATTC	0.642																																					p.A28A		.											.	.	0			c.A84G						.						47.0	55.0	53.0					5																	140762550		1959	4183	6142	SO:0001819	synonymous_variant	56108	exon1			CTGGGCAGGACGT	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.84A>G	5.37:g.140762550A>G		97	0		119	26	NM_032087	0	0	0	0	0	B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	CCDS54927.1																																																																																			.		0.642	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920	
PCDHGA8	9708	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140773971	140773971	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140773971C>A	ENST00000398604.2	+	1	1591	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M	PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	531	Cadherin 5. {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)			CCTGCAGCTACTGGTAACAGC	0.587																																					p.L531M		.											.	.	0			c.C1591A						.						77.0	92.0	87.0					5																	140773971		2197	4300	6497	SO:0001583	missense	9708	exon1			CAGCTACTGGTAA	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.1591C>A	5.37:g.140773971C>A	ENSP00000381605:p.Leu531Met	220	1		216	86	NM_014004	0	0	0	0	0	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	0.021	-1.419044	0.01136	.	.	ENSG00000253767	ENST00000398604	T	0.52057	0.68	5.06	-1.2	0.09554	Cadherin (5);Cadherin-like (1);	1.110330	0.07634	U	0.929083	T	0.39600	0.1084	L	0.61218	1.895	0.09310	N	1	B;B	0.26635	0.155;0.098	B;B	0.29267	0.1;0.038	T	0.33266	-0.9875	10	0.31617	T	0.26	.	1.788	0.03046	0.237:0.4427:0.1151:0.2052	.	531;531	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	531	ENSP00000381605:L531M	ENSP00000381605:L531M	L	+	1	2	PCDHGA8	140754155	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.632000	0.05489	-0.653000	0.05401	-0.815000	0.03128	CTG	.		0.587	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
PCDHGA9	56107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140782720	140782720	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140782720C>T	ENST00000573521.1	+	1	201	c.201C>T	c.(199-201)gtC>gtT	p.V67V	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCATCGTCTCTAGAGGTA	0.622																																					p.V67V		.											.	.	0			c.C201T						.						62.0	73.0	70.0					5																	140782720		2080	4245	6325	SO:0001819	synonymous_variant	56107	exon1			CATCGTCTCTAGA	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.201C>T	5.37:g.140782720C>T		94	0		91	22	NM_032089	0	0	0	0	0	A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																			.		0.622	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921	
PCDHGA9	56107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140783342	140783342	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140783342G>C	ENST00000573521.1	+	1	823	c.823G>C	c.(823-825)Gga>Cga	p.G275R	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATCAACGGAAAAGTGGC	0.428																																					p.G275R		.											.	.	0			c.G823C						.						66.0	70.0	69.0					5																	140783342		1845	4093	5938	SO:0001583	missense	56107	exon1			ATCAACGGAAAAG	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.823G>C	5.37:g.140783342G>C	ENSP00000460274:p.Gly275Arg	112	0		92	19	NM_032089	0	0	0	0	0	A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																			.		0.428	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921	
PCDHGB7	56099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140798387	140798387	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140798387G>T	ENST00000398594.2	+	1	961	c.961G>T	c.(961-963)Gca>Tca	p.A321S	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	321	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)			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)			AAACATAGAAGCAAAAGACCG	0.403																																					p.A321S		.											.	PCDHGB7-29	0			c.G961T						.						73.0	68.0	69.0					5																	140798387		1874	4101	5975	SO:0001583	missense	56099	exon1			ATAGAAGCAAAAG	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.961G>T	5.37:g.140798387G>T	ENSP00000381594:p.Ala321Ser	162	0		128	20	NM_018927	0	0	0	0	0	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	18.36	3.607777	0.66558	.	.	ENSG00000254122	ENST00000398594	T	0.75477	-0.94	5.7	5.7	0.88788	Cadherin (5);Cadherin-like (1);	0.253980	0.19616	U	0.110018	D	0.90892	0.7138	H	0.95151	3.63	0.38021	D	0.934843	D;D	0.76494	0.999;0.996	D;D	0.73380	0.98;0.952	D	0.93805	0.7104	10	0.87932	D	0	.	19.4481	0.94855	0.0:0.0:1.0:0.0	.	321;321	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	S	321	ENSP00000381594:A321S	ENSP00000381594:A321S	A	+	1	0	PCDHGB7	140778571	1.000000	0.71417	0.976000	0.42696	0.466000	0.32739	9.722000	0.98770	2.711000	0.92665	0.561000	0.74099	GCA	.		0.403	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927	
PCDHGA12	26025	bcgsc.ca	37	5	140812559	140812559	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:140812559G>T	ENST00000252085.3	+	1	2375	c.2233G>T	c.(2233-2235)Ggg>Tgg	p.G745W	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	745					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGTGGACGGGGTGCAGGC	0.642																																					p.G745W		.											.	PCDHGA12-27	0			c.G2233T						.						74.0	79.0	78.0					5																	140812559		2203	4300	6503	SO:0001583	missense	26025	exon1			GTGGACGGGGTGC	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2233G>T	5.37:g.140812559G>T	ENSP00000252085:p.Gly745Trp	108	3		128	57	NM_032094	0	0	0	0	0	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797102	0.90453	.	.	ENSG00000253159	ENST00000252085	T	0.53206	0.63	5.23	5.23	0.72850	.	.	.	.	.	T	0.79857	0.4518	H	0.96691	3.865	0.38085	D	0.936787	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.87987	0.2747	9	0.87932	D	0	.	17.3462	0.87310	0.0:0.0:1.0:0.0	.	745;745	O60330-2;O60330	.;PCDGC_HUMAN	W	745	ENSP00000252085:G745W	ENSP00000252085:G745W	G	+	1	0	PCDHGA12	140792743	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.194000	0.58393	2.588000	0.87417	0.655000	0.94253	GGG	.		0.642	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
YIPF5	81555	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	143541849	143541849	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:143541849T>A	ENST00000274496.5	-	5	678	c.544A>T	c.(544-546)Agt>Tgt	p.S182C	YIPF5_ENST00000448443.2_Missense_Mutation_p.S182C|YIPF5_ENST00000513112.1_Missense_Mutation_p.S128C	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	182					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCAAGGACACTTGCCACACAA	0.383																																					p.S182C		.											.	YIPF5-92	0			c.A544T						.						154.0	134.0	141.0					5																	143541849		2203	4300	6503	SO:0001583	missense	81555	exon5			GGACACTTGCCAC	AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"""Yip1 domain family"""	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.544A>T	5.37:g.143541849T>A	ENSP00000274496:p.Ser182Cys	414	0		410	107	NM_001024947	0	0	0	0	0	D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	CCDS4279.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987040	0.93106	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000513112;ENST00000519064	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.74	5.74	0.90152	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71255	-0.4647	10	0.36615	T	0.2	-36.7297	16.0257	0.80541	0.0:0.0:0.0:1.0	.	182	Q969M3	YIPF5_HUMAN	C	182;182;182;128;128	ENSP00000274496:S182C;ENSP00000397704:S182C;ENSP00000425422:S128C;ENSP00000429777:S128C	ENSP00000274496:S182C	S	-	1	0	YIPF5	143522042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.961000	0.87903	2.187000	0.69744	0.482000	0.46254	AGT	.		0.383	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799	
KCTD16	57528	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	143853384	143853384	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:143853384C>G	ENST00000507359.3	+	3	2085	c.994C>G	c.(994-996)Ccc>Gcc	p.P332A	KCTD16_ENST00000512467.1_Missense_Mutation_p.P332A	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	332					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)			CATCTGTGGTCCCGTGACACG	0.587																																					p.P332A		.											.	KCTD16-137	0			c.C994G						.						88.0	82.0	84.0					5																	143853384		2203	4300	6503	SO:0001583	missense	57528	exon4			TGTGGTCCCGTGA	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.994C>G	5.37:g.143853384C>G	ENSP00000426548:p.Pro332Ala	418	1		413	68	NM_020768	0	0	0	0	0	Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084784	0.76642	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.40756	1.02;1.02	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	N	0.03608	-0.345	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.47623	-0.9103	10	0.16896	T	0.51	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	332	Q68DU8	KCD16_HUMAN	A	332	ENSP00000424151:P332A;ENSP00000426548:P332A	ENSP00000426548:P332A	P	+	1	0	KCTD16	143833577	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.400000	0.79949	2.941000	0.99782	0.655000	0.94253	CCC	.		0.587	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368	
LARS	51520	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	145509683	145509683	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:145509683C>T	ENST00000394434.2	-	25	2692	c.2526G>A	c.(2524-2526)ggG>ggA	p.G842G	LARS_ENST00000274562.9_Silent_p.G815G|LARS_ENST00000545646.1_Silent_p.G796G|LARS_ENST00000510191.1_Silent_p.G788G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	842					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTCTGTGCATCCCTTCCACAG	0.403																																					p.G842G		.											.	LARS-90	0			c.G2526A						.						117.0	99.0	105.0					5																	145509683		2203	4300	6503	SO:0001819	synonymous_variant	51520	exon25			GTGCATCCCTTCC	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2526G>A	5.37:g.145509683C>T		104	0		77	37	NM_020117	0	0	0	0	0	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	CCDS34265.1																																																																																			.		0.403	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	
SH3TC2	79628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	148406710	148406710	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:148406710G>T	ENST00000515425.1	-	11	2686	c.2585C>A	c.(2584-2586)gCc>gAc	p.A862D	SH3TC2_ENST00000512049.1_Missense_Mutation_p.A855D|SH3TC2_ENST00000538184.1_Missense_Mutation_p.A409D|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A747D|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	862					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTTCAAGGCCCGAAGATA	0.567																																					p.A862D		.											.	SH3TC2-92	0			c.C2585A						.						132.0	144.0	140.0					5																	148406710		2203	4300	6503	SO:0001583	missense	79628	exon11			TTCAAGGCCCGAA	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2585C>A	5.37:g.148406710G>T	ENSP00000423660:p.Ala862Asp	182	0		138	53	NM_024577	0	0	0	0	0	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933048	0.52866	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26	6.16	6.16	0.99307	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	M	0.81497	2.545	0.54753	D	0.99998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.98877	1.0768	10	0.87932	D	0	-17.7779	20.8598	0.99761	0.0:0.0:1.0:0.0	.	747;855;862;862	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	D	409;862;855;747	ENSP00000441427:A409D;ENSP00000423660:A862D;ENSP00000421860:A855D;ENSP00000377886:A747D	ENSP00000377886:A747D	A	-	2	0	SH3TC2	148386903	1.000000	0.71417	0.991000	0.47740	0.557000	0.35523	7.449000	0.80643	2.937000	0.99478	0.650000	0.86243	GCC	.		0.567	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
SH3TC2	79628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	148407036	148407036	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:148407036C>A	ENST00000515425.1	-	11	2360	c.2259G>T	c.(2257-2259)cgG>cgT	p.R753R	SH3TC2_ENST00000512049.1_Silent_p.R746R|SH3TC2_ENST00000538184.1_Silent_p.R300R|SH3TC2_ENST00000394358.2_Silent_p.R638R|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	753					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGTGCTCCGGTCTGCTA	0.602																																					p.R753R		.											.	SH3TC2-92	0			c.G2259T						.						49.0	55.0	53.0					5																	148407036		2203	4300	6503	SO:0001819	synonymous_variant	79628	exon11			GGTGCTCCGGTCT	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2259G>T	5.37:g.148407036C>A		237	0		217	43	NM_024577	0	0	0	0	0	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	CCDS4293.1																																																																																			.		0.602	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
PCYOX1L	78991	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	148745675	148745675	+	Missense_Mutation	SNP	G	G	T	rs551655169		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:148745675G>T	ENST00000274569.4	+	4	703	c.641G>T	c.(640-642)cGg>cTg	p.R214L	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.R124L	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	214					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTCCTGCGGGCCAGCTAT	0.597																																					p.R214L	Ovarian(62;1136 1477 27277 27495)	.											.	PCYOX1L-91	0			c.G641T						.						43.0	41.0	42.0					5																	148745675		2203	4300	6503	SO:0001583	missense	78991	exon4			TCCTGCGGGCCAG		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.641G>T	5.37:g.148745675G>T	ENSP00000274569:p.Arg214Leu	72	0		71	34	NM_024028	0	0	0	0	0	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292132	0.95546	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.16457	2.34;2.34	5.18	5.18	0.71444	Prenylcysteine lyase (1);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	M	0.74881	2.28	0.80722	D	1	D;D	0.58620	0.983;0.961	P;P	0.60068	0.868;0.815	T	0.20438	-1.0275	10	0.51188	T	0.08	-30.0131	19.0548	0.93059	0.0:0.0:1.0:0.0	.	124;214	E7EVZ5;Q8NBM8	.;PCYXL_HUMAN	L	214;124	ENSP00000274569:R214L;ENSP00000428512:R124L	ENSP00000274569:R214L	R	+	2	0	PCYOX1L	148725868	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.779000	0.99018	2.593000	0.87608	0.561000	0.74099	CGG	.		0.597	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028	
ARHGEF37	389337	bcgsc.ca	37	5	149011699	149011699	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:149011699G>T	ENST00000333677.6	+	13	2136	c.1973G>T	c.(1972-1974)gGc>gTc	p.G658V		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	658	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GTGCCTTCTGGCTTCTTGGCC	0.597																																					p.G658V		.											.	ARHGEF37-90	0			c.G1973T						.						90.0	93.0	92.0					5																	149011699		1924	4125	6049	SO:0001583	missense	389337	exon13			CTTCTGGCTTCTT	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1973G>T	5.37:g.149011699G>T	ENSP00000328083:p.Gly658Val	217	4		267	77	NM_001001669	0	0	0	0	0	Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492211	0.44352	.	.	ENSG00000183111	ENST00000333677	T	0.68025	-0.3	5.44	2.23	0.28157	Src homology-3 domain (3);	0.309371	0.43416	D	0.000573	T	0.45935	0.1367	N	0.16307	0.4	0.43550	D	0.995853	B	0.29341	0.242	B	0.26969	0.075	T	0.49615	-0.8921	10	0.72032	D	0.01	.	8.2401	0.31654	0.1716:0.1355:0.6929:0.0	.	658	A1IGU5	ARH37_HUMAN	V	658	ENSP00000328083:G658V	ENSP00000328083:G658V	G	+	2	0	ARHGEF37	148991892	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	2.858000	0.48356	1.259000	0.44117	0.655000	0.94253	GGC	.		0.597	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669	
PDGFRB	5159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	149505087	149505087	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:149505087G>C	ENST00000261799.4	-	12	2197	c.1728C>G	c.(1726-1728)ggC>ggG	p.G576G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	576					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTACTCATGGCCGTCAGAGC	0.577			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																p.G576G		.		Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	.	PDGFRB-1499	0			c.C1728G						.						142.0	121.0	128.0					5																	149505087		2203	4300	6503	SO:0001819	synonymous_variant	5159	exon12			CTCATGGCCGTCA	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1728C>G	5.37:g.149505087G>C		245	0		339	92	NM_002609	0	0	0	0	0	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																			.		0.577	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
CCDC69	26112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	150565009	150565009	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:150565009T>A	ENST00000355417.2	-	7	763	c.589A>T	c.(589-591)Agg>Tgg	p.R197W	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	197			R -> K (in dbSNP:rs248427). {ECO:0000269|PubMed:14702039}.							haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGCCGCCTGTCCAGCTCA	0.542																																					p.R197W		.											.	CCDC69-92	0			c.A589T						.						148.0	135.0	140.0					5																	150565009		2203	4300	6503	SO:0001583	missense	26112	exon7			GCCGCCTGTCCAG		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.589A>T	5.37:g.150565009T>A	ENSP00000347586:p.Arg197Trp	113	0		139	60	NM_015621	0	0	0	0	0	A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021560	0.75275	.	.	ENSG00000198624	ENST00000355417	T	0.09817	2.94	4.92	3.71	0.42584	.	0.199205	0.33253	N	0.005120	T	0.09468	0.0233	N	0.14661	0.345	0.09310	N	1	P	0.42908	0.793	P	0.46479	0.518	T	0.11717	-1.0576	10	0.72032	D	0.01	-35.1907	10.789	0.46422	0.0:0.0:0.2103:0.7897	.	197	A6NI79	CCD69_HUMAN	W	197	ENSP00000347586:R197W	ENSP00000347586:R197W	R	-	1	2	CCDC69	150545202	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.970000	0.49240	1.972000	0.57404	0.379000	0.24179	AGG	.		0.542	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621	
SLC36A2	153201	bcgsc.ca|ucsc.edu;bcgsc.ca	37	5	150696572	150696573	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-|G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:150696572_150696573GG>CT	ENST00000335244.4	-	10	1386_1387	c.1257_1258CC>AG	c.(1255-1260)gcCCtc>gcAGtc	p.L420V	SLC36A2_ENST00000450886.1_Missense_Mutation_p.L144V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	420					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GGGATGATGAGGGCCAGGGCGG	0.639																																					p.L420V|p.A419A		.											.	SLC36A2-91	0			c.C1258G|c.C1257A						.																																			SO:0001583	missense	153201	exon10			TGATGAGGGCCAG|GATGAGGGCCAGG	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1257_1258delinsCT	5.37:g.150696572_150696573delinsCT	ENSP00000334223:p.Leu420Val	116	2		175|173	52|48	NM_181776	0	0	0	0	0	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation|Silent	SNP	ENST00000335244.4	37	CCDS4315.1																																																																																			.		0.639	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1		
FAT2	2196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	150925322	150925322	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:150925322G>T	ENST00000261800.5	-	9	5378	c.5366C>A	c.(5365-5367)gCc>gAc	p.A1789D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1789	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGTCAGAGGCATGAATCAC	0.408																																					p.A1789D		.											.	FAT2-96	0			c.C5366A						.						109.0	108.0	108.0					5																	150925322		2203	4300	6503	SO:0001583	missense	2196	exon9			TCAGAGGCATGAA	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5366C>A	5.37:g.150925322G>T	ENSP00000261800:p.Ala1789Asp	75	0		86	43	NM_001447	0	0	0	0	0	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968416	0.74131	.	.	ENSG00000086570	ENST00000261800	T	0.61980	0.06	5.25	5.25	0.73442	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000023	D	0.87997	0.6319	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92796	0.6252	10	0.87932	D	0	.	18.8457	0.92205	0.0:0.0:1.0:0.0	.	1789	Q9NYQ8	FAT2_HUMAN	D	1789	ENSP00000261800:A1789D	ENSP00000261800:A1789D	A	-	2	0	FAT2	150905515	1.000000	0.71417	0.178000	0.23040	0.961000	0.63080	9.787000	0.99055	2.446000	0.82766	0.467000	0.42956	GCC	.		0.408	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
KIF4B	285643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	154396953	154396953	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:154396953G>T	ENST00000435029.4	+	1	3694	c.3534G>T	c.(3532-3534)gtG>gtT	p.V1178V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1178	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGAGCAGGTGCTGTCAAAGA	0.502																																					p.V1178V		.											.	KIF4B-1	0			c.G3534T						.						77.0	81.0	80.0					5																	154396953		2203	4300	6503	SO:0001819	synonymous_variant	285643	exon1			GCAGGTGCTGTCA	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3534G>T	5.37:g.154396953G>T		162	0		224	61	NM_001099293	0	0	0	0	0		Silent	SNP	ENST00000435029.4	37	CCDS47324.1																																																																																			.		0.502	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
TIMD4	91937	bcgsc.ca	37	5	156378664	156378664	+	Missense_Mutation	SNP	C	C	T	rs145234048	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:156378664C>T	ENST00000274532.2	-	3	594	c.538G>A	c.(538-540)Gga>Aga	p.G180R	TIMD4_ENST00000407087.3_Missense_Mutation_p.G180R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	180	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGGTGTTCCGGTTGTGAGA	0.537																																					p.G180R		.											.	TIMD4-92	0			c.G538A						.	C	ARG/GLY,ARG/GLY	11,4395	17.9+/-39.9	0,11,2192	640.0	534.0	570.0		538,538	-0.2	0.0	5	dbSNP_134	570	0,8600		0,0,4300	yes	missense,missense	TIMD4	NM_001146726.1,NM_138379.2	125,125	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	benign,benign	180/351,180/379	156378664	11,12995	2203	4300	6503	SO:0001583	missense	91937	exon3			GTGTTCCGGTTGT	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.538G>A	5.37:g.156378664C>T	ENSP00000274532:p.Gly180Arg	721	6		956	415	NM_138379	0	0	0	0	0	B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	C	2.470	-0.322057	0.05386	0.002497	0.0	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.17370	2.28;2.28	5.12	-0.218	0.13142	.	1.810520	0.02888	N	0.133768	T	0.06872	0.0175	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31861	-0.9928	10	0.11794	T	0.64	0.4303	8.7723	0.34740	0.0:0.4928:0.0:0.5072	.	180;180	B5MCL9;Q96H15	.;TIMD4_HUMAN	R	180	ENSP00000274532:G180R;ENSP00000385973:G180R	ENSP00000274532:G180R	G	-	1	0	TIMD4	156311242	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.944000	0.01538	0.042000	0.15717	-0.459000	0.05422	GGA	C|0.999;T|0.001		0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379	
ADAM19	8728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	156997966	156997966	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:156997966G>A	ENST00000517905.1	-	2	161	c.117C>T	c.(115-117)ccC>ccT	p.P39P	ADAM19_ENST00000257527.4_Silent_p.P39P|AC106801.1_ENST00000518054.1_RNA|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.P41P			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	39					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTGCAGCTTGGGGCTGCCTT	0.483																																					p.P39P		.											.	ADAM19-294	0			c.C117T						.						104.0	102.0	103.0					5																	156997966		2203	4300	6503	SO:0001819	synonymous_variant	8728	exon2			CAGCTTGGGGCTG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.117C>T	5.37:g.156997966G>A		69	0		122	52	NM_033274	0	0	0	0	0	Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37																																																																																				.		0.483	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	
EBF1	1879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	158139314	158139314	+	Nonsense_Mutation	SNP	G	G	T	rs556574598		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:158139314G>T	ENST00000313708.6	-	14	1679	c.1397C>A	c.(1396-1398)tCa>tAa	p.S466*	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Nonsense_Mutation_p.S435*	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	466	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCGTGTGGTGATACGCTGCT	0.582			T	HMGA2	lipoma																																p.S466X		.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	EBF1-92	0			c.C1397A						.						100.0	77.0	85.0					5																	158139314		2203	4300	6503	SO:0001587	stop_gained	1879	exon14			TGTGGTGATACGC	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1397C>A	5.37:g.158139314G>T	ENSP00000322898:p.Ser466*	189	0		236	103	NM_024007	0	0	0	0	0	Q8IW11	Nonsense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	38	7.228873	0.98150	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.828	18.1731	0.89753	0.0:0.0:1.0:0.0	.	.	.	.	X	466;466;435	.	ENSP00000322898:S466X	S	-	2	0	EBF1	158071892	1.000000	0.71417	0.981000	0.43875	0.929000	0.56500	9.804000	0.99143	2.357000	0.79964	0.650000	0.86243	TCA	.		0.582	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
GABRA1	2554	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	161322775	161322775	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:161322775C>G	ENST00000428797.2	+	10	1315	c.960C>G	c.(958-960)tgC>tgG	p.C320W	GABRA1_ENST00000393943.4_Missense_Mutation_p.C320W|GABRA1_ENST00000023897.6_Missense_Mutation_p.C320W|GABRA1_ENST00000420560.1_Missense_Mutation_p.C320W|GABRA1_ENST00000437025.2_Missense_Mutation_p.C320W|GABRA1_ENST00000444819.1_Missense_Mutation_p.C320W	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	320					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTGCCGTGTGCTATGCCTTTG	0.448																																					p.C320W		.											.	GABRA1-93	0			c.C960G						.						301.0	244.0	263.0					5																	161322775		2203	4300	6503	SO:0001583	missense	2554	exon9			CGTGTGCTATGCC		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.960C>G	5.37:g.161322775C>G	ENSP00000393097:p.Cys320Trp	237	2		272	126	NM_001127644	0	0	0	0	0	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150812	0.57151	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.47	3.37	0.38596	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94469	0.7683	10	0.87932	D	0	.	9.3767	0.38288	0.0:0.7033:0.0:0.2967	.	320	P14867	GBRA1_HUMAN	W	320	ENSP00000023897:C320W;ENSP00000393097:C320W;ENSP00000377517:C320W;ENSP00000415441:C320W;ENSP00000408041:C320W;ENSP00000414232:C320W	ENSP00000023897:C320W	C	+	3	2	GABRA1	161255353	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.700000	0.37815	1.316000	0.45131	0.650000	0.86243	TGC	.		0.448	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
GABRG2	2566	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	161576148	161576148	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:161576148C>G	ENST00000361925.4	+	8	1177	c.957C>G	c.(955-957)agC>agG	p.S319R	GABRG2_ENST00000356592.3_Missense_Mutation_p.S319R|GABRG2_ENST00000393933.4_Missense_Mutation_p.S224R|GABRG2_ENST00000414552.2_Missense_Mutation_p.S359R			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	319					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCACCCTCAGCACCATTGCCC	0.473																																					p.S359R		.											.	GABRG2-95	0			c.C1077G						.						220.0	179.0	193.0					5																	161576148		2203	4300	6503	SO:0001583	missense	2566	exon9			CCTCAGCACCATT		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.957C>G	5.37:g.161576148C>G	ENSP00000354651:p.Ser319Arg	116	0		172	39	NM_198903	0	0	0	0	0	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913251	0.72983	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.73	3.95	0.45737	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.071335	0.85682	D	0.000000	D	0.90546	0.7037	M	0.67625	2.065	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.994	D	0.89772	0.3955	10	0.87932	D	0	.	5.3619	0.16093	0.0:0.6264:0.0:0.3736	.	359;319;319	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	R	319;359;319;224	ENSP00000349000:S319R;ENSP00000410732:S359R;ENSP00000354651:S319R;ENSP00000377510:S224R	ENSP00000349000:S319R	S	+	3	2	GABRG2	161508726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.934000	0.28910	1.427000	0.47276	0.650000	0.86243	AGC	.		0.473	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
CCNG1	900	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	162869514	162869514	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:162869514G>A	ENST00000340828.2	+	6	1055	c.831G>A	c.(829-831)ttG>ttA	p.L277L	CCNG1_ENST00000511683.2_Silent_p.L143L|CCNG1_ENST00000510664.1_Silent_p.L149L|CCNG1_ENST00000512163.1_Silent_p.L143L|CCNG1_ENST00000393929.1_Silent_p.L277L|CCNG1_ENST00000504553.1_Intron|AC112205.1_ENST00000599797.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	277				RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903). {ECO:0000305}.	brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		CACGGCAATTGAAGCATAGCT	0.363																																					p.L277L		.											.	CCNG1-725	0			c.G831A						.						141.0	139.0	140.0					5																	162869514		2203	4300	6503	SO:0001819	synonymous_variant	900	exon7			GCAATTGAAGCAT	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.831G>A	5.37:g.162869514G>A		211	1		205	76	NM_199246	0	0	0	0	0	B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Silent	SNP	ENST00000340828.2	37	CCDS4360.1																																																																																			.		0.363	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060	
TENM2	57451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	167645293	167645293	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:167645293G>T	ENST00000518659.1	+	23	4436	c.4397G>T	c.(4396-4398)aGc>aTc	p.S1466I	TENM2_ENST00000545108.1_Missense_Mutation_p.S1465I|TENM2_ENST00000519204.1_Missense_Mutation_p.S1345I|TENM2_ENST00000403607.2_Missense_Mutation_p.S1290I|TENM2_ENST00000520394.1_Missense_Mutation_p.S1227I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1466					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TACTCACTCAGCAAACTAGCC	0.507																																					p.S1457I		.											.	.	0			c.G4370T						.						171.0	181.0	178.0					5																	167645293		2194	4284	6478	SO:0001583	missense	57451	exon23			CACTCAGCAAACT	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4397G>T	5.37:g.167645293G>T	ENSP00000429430:p.Ser1466Ile	252	0		306	101	NM_001122679	0	0	0	0	0	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.181138	0.78677	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90385	-2.19;-2.18;-2.29;-2.65;-2.66	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.073538	0.85682	D	0.000000	D	0.94994	0.8380	M	0.66939	2.045	0.80722	D	1	D;P;D	0.71674	0.981;0.93;0.998	P;P;D	0.76575	0.876;0.67;0.988	D	0.94885	0.8042	10	0.72032	D	0.01	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	1465;1466;1227	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	1466;1465;1345;1227;1290	ENSP00000429430:S1466I;ENSP00000438635:S1465I;ENSP00000428964:S1345I;ENSP00000427874:S1227I;ENSP00000384905:S1290I	ENSP00000384905:S1290I	S	+	2	0	ODZ2	167577871	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	AGC	.		0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
DOCK2	1794	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	169141144	169141144	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:169141144G>T	ENST00000256935.8	+	18	1852	c.1772G>T	c.(1771-1773)gGg>gTg	p.G591V	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.G83V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	591	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGTTGGGGGGCTTTCTGTC	0.542																																					p.G591V		.											.	DOCK2-97	0			c.G1772T						.						61.0	58.0	59.0					5																	169141144		2203	4300	6503	SO:0001583	missense	1794	exon18			TTGGGGGGCTTTC	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1772G>T	5.37:g.169141144G>T	ENSP00000256935:p.Gly591Val	111	1		187	102	NM_004946	0	0	0	0	0	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609107	0.66558	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908	T;T	0.14022	2.54;3.25	5.9	5.9	0.94986	.	0.094278	0.64402	D	0.000001	T	0.38268	0.1034	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.976;0.981	T	0.00896	-1.1523	10	0.46703	T	0.11	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	83;591;591	E7ERW7;E5RFJ0;Q92608	.;.;DOCK2_HUMAN	V	591;109;83	ENSP00000256935:G591V;ENSP00000429283:G83V	ENSP00000256935:G591V	G	+	2	0	DOCK2	169073722	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	7.665000	0.83852	2.797000	0.96272	0.655000	0.94253	GGG	.		0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
FAM196B	100131897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	169310385	169310385	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:169310385C>G	ENST00000377365.3	-	2	1899	c.518G>C	c.(517-519)aGg>aCg	p.R173T	DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000523351.1_Intron|DOCK2_ENST00000520908.1_Intron|FAM196B_ENST00000523970.1_5'Flank|DOCK2_ENST00000256935.8_Intron	NM_001129891.1	NP_001123363.1	A6NMK8	F196B_HUMAN	family with sequence similarity 196, member B	173										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)	5						CTTGGGGACCCTTGGGAGGAA	0.517																																					p.R173T		.											.	.	0			c.G518C						.						69.0	60.0	62.0					5																	169310385		692	1591	2283	SO:0001583	missense	100131897	exon2			GGGACCCTTGGGA		CCDS47336.1	5q35.1	2010-02-17	2009-09-11	2009-09-11	ENSG00000204767	ENSG00000204767			37271	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 57"""	C5orf57			Standard	NM_001129891		Approved		uc003mag.2	A6NMK8	OTTHUMG00000163083	ENST00000377365.3:c.518G>C	5.37:g.169310385C>G	ENSP00000366582:p.Arg173Thr	118	0		144	57	NM_001129891	0	0	0	0	0		Missense_Mutation	SNP	ENST00000377365.3	37	CCDS47336.1	.	.	.	.	.	.	.	.	.	.	C	6.783	0.513433	0.12944	.	.	ENSG00000204767	ENST00000377365	T	0.47177	0.85	5.25	3.43	0.39272	.	0.348290	0.28555	N	0.014934	T	0.41282	0.1152	L	0.52364	1.645	0.09310	N	1	B	0.30281	0.275	B	0.35039	0.194	T	0.36114	-0.9761	10	0.51188	T	0.08	-4.1164	7.0798	0.25225	0.3052:0.6158:0.0:0.079	.	173	A6NMK8	F196B_HUMAN	T	173	ENSP00000366582:R173T	ENSP00000366582:R173T	R	-	2	0	FAM196B	169242963	0.005000	0.15991	0.015000	0.15790	0.257000	0.26127	1.458000	0.35223	0.568000	0.29311	0.655000	0.94253	AGG	.		0.517	FAM196B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371629.1	NM_001129891	
DOCK2	1794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	169461501	169461501	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:169461501G>T	ENST00000256935.8	+	35	3646	c.3566G>T	c.(3565-3567)cGg>cTg	p.R1189L	DOCK2_ENST00000540750.1_Missense_Mutation_p.R250L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R681L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1189	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1189Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGATTACCGGGGTGTGATG	0.577																																					p.R1189L		.											.	DOCK2-97	1	Substitution - Missense(1)	endometrium(1)	c.G3566T						.						104.0	101.0	102.0					5																	169461501		2203	4300	6503	SO:0001583	missense	1794	exon35			ATTACCGGGGTGT	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3566G>T	5.37:g.169461501G>T	ENSP00000256935:p.Arg1189Leu	113	0		169	87	NM_004946	0	0	0	0	0	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	36	5.948165	0.97134	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.58060	0.36;0.36;0.36	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	M	0.93016	3.37	0.58432	D	0.999994	P;P	0.49090	0.919;0.713	B;B	0.41440	0.357;0.274	T	0.77965	-0.2389	10	0.72032	D	0.01	.	19.2876	0.94085	0.0:0.0:1.0:0.0	.	681;1189	E7ERW7;Q92608	.;DOCK2_HUMAN	L	1189;681;250	ENSP00000256935:R1189L;ENSP00000429283:R681L;ENSP00000438827:R250L	ENSP00000256935:R1189L	R	+	2	0	DOCK2	169394079	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.508000	0.98000	2.656000	0.90262	0.655000	0.94253	CGG	.		0.577	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
FOXI1	2299	broad.mit.edu;bcgsc.ca	37	5	169533089	169533089	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:169533089G>T	ENST00000306268.6	+	1	189	c.128G>T	c.(127-129)aGc>aTc	p.S43I	FOXI1_ENST00000449804.2_Missense_Mutation_p.S43I			Q12951	FOXI1_HUMAN	forkhead box I1	43	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCGTGCCCAGCCCTCAGCGG	0.677									Pendred syndrome																												p.S43I		.											.	FOXI1-229	0			c.G128T						.						22.0	24.0	23.0					5																	169533089		2203	4299	6502	SO:0001583	missense	2299	exon1	Familial Cancer Database	Goiter-Deafness syndrome	TGCCCAGCCCTCA	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.128G>T	5.37:g.169533089G>T	ENSP00000304286:p.Ser43Ile	166	1		345	102	NM_012188	0	0	0	0	0	Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497836	0.64186	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94897	-3.46;-3.55	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	M	0.75264	2.295	0.54753	D	0.999987	P;P	0.52061	0.903;0.95	P;P	0.46320	0.488;0.512	D	0.95349	0.8445	10	0.59425	D	0.04	.	17.2157	0.86943	0.0:0.0:1.0:0.0	.	43;43	Q12951-2;Q12951	.;FOXI1_HUMAN	I	43	ENSP00000304286:S43I;ENSP00000415483:S43I	ENSP00000304286:S43I	S	+	2	0	FOXI1	169465667	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.086000	0.71352	2.056000	0.61249	0.491000	0.48974	AGC	.		0.677	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	
KCNMB1	3779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	169810783	169810783	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:169810783T>C	ENST00000274629.4	-	3	648	c.206A>G	c.(205-207)aAg>aGg	p.K69R	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.K69R	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	69					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	GGGCACCTTCTTGCCCTTCAG	0.597																																					p.L69R		.											.	KCNMB1-92	0			c.T206G						.						137.0	106.0	116.0					5																	169810783		2203	4300	6503	SO:0001583	missense	3779	exon3			ACCTTCTTGCCCT	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.206A>G	5.37:g.169810783T>C	ENSP00000274629:p.Lys69Arg	143	0		182	56	NM_004137	0	0	0	0	0	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521180	0.44866	.	.	ENSG00000145936	ENST00000274629;ENST00000521859	T;T	0.09163	3.01;3.01	5.7	-2.44	0.06502	.	0.534827	0.23608	N	0.046377	T	0.03305	0.0096	N	0.02539	-0.55	0.25390	N	0.988536	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.007	T	0.44097	-0.9350	9	.	.	.	.	10.7106	0.45982	0.0:0.5372:0.0:0.4628	.	69;69	Q16558-2;Q16558	.;KCMB1_HUMAN	R	69	ENSP00000274629:K69R;ENSP00000427940:K69R	.	K	-	2	0	KCNMB1	169743361	0.988000	0.35896	0.985000	0.45067	0.982000	0.71751	0.311000	0.19380	-0.415000	0.07484	0.533000	0.62120	AAG	.		0.597	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3		
TLX3	30012	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	170736778	170736778	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:170736778G>A	ENST00000296921.5	+	1	491	c.409G>A	c.(409-411)Gac>Aac	p.D137N		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	137					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCGTGAAAGACCGCTTCAC	0.682			T	BCL11B	T-ALL																																p.D137N	Esophageal Squamous(33;43 807 3116 3348 30094)	.		Dom	yes		5	5q35.1	30012	"""T-cell leukemia, homeobox 3 (HOX11L2)"""		L	.	TLX3-658	0			c.G409A						.						15.0	18.0	17.0					5																	170736778		2183	4269	6452	SO:0001583	missense	30012	exon1			GTGAAAGACCGCT	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.409G>A	5.37:g.170736778G>A	ENSP00000296921:p.Asp137Asn	46	0		121	44	NM_021025	0	0	0	0	0	Q96AD3	Missense_Mutation	SNP	ENST00000296921.5	37	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482499	0.63962	.	.	ENSG00000164438	ENST00000296921	D	0.91792	-2.91	4.31	4.31	0.51392	.	0.051376	0.85682	D	0.000000	D	0.91988	0.7462	M	0.70595	2.14	0.43574	D	0.995908	B	0.33512	0.415	B	0.39935	0.314	D	0.90804	0.4696	10	0.30854	T	0.27	.	15.7306	0.77800	0.0:0.0:1.0:0.0	.	137	O43711	TLX3_HUMAN	N	137	ENSP00000296921:D137N	ENSP00000296921:D137N	D	+	1	0	TLX3	170669383	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.325000	0.96381	2.246000	0.74042	0.555000	0.69702	GAC	.		0.682	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3		
ARL10	285598	hgsc.bcm.edu	37	5	175792605	175792605	+	Silent	SNP	G	G	C	rs2303667	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	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		2	0		17	7	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	
EIF4E1B	253314	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	176070253	176070253	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:176070253C>A	ENST00000318682.6	+	4	770	c.186C>A	c.(184-186)caC>caA	p.H62Q	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.H62Q	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	62	EIF4EBP1/2/3 binding. {ECO:0000250}.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAGCTGCACCCcttgcaga	0.632																																					p.H62Q		.											.	.	0			c.C186A						.						35.0	46.0	42.0					5																	176070253		1979	4138	6117	SO:0001583	missense	253314	exon4			GCTGCACCCCTTG		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.186C>A	5.37:g.176070253C>A	ENSP00000323714:p.His62Gln	166	1		210	92	NM_001099408	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318682.6	37	CCDS47345.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.71|12.71	2.018379|2.018379	0.35606|0.35606	.|.	.|.	ENSG00000175766|ENSG00000175766	ENST00000318682;ENST00000510660;ENST00000504597|ENST00000505497	T;T;T|.	0.53857|.	0.6;0.6;0.6|.	4.79|4.79	2.02|2.02	0.26589|0.26589	Translation Initiation factor eIF- 4e-like  domain (2);|.	.|.	.|.	.|.	.|.	T|T	0.38134|0.38134	0.1029|0.1029	N|N	0.24115|0.24115	0.695|0.695	0.47153|0.47153	D|D	0.999331|0.999331	D|.	0.76494|.	0.999|.	D|.	0.73380|.	0.98|.	T|T	0.07366|0.07366	-1.0776|-1.0776	9|5	0.87932|.	D|.	0|.	.|.	6.0763|6.0763	0.19917|0.19917	0.0:0.6864:0.0:0.3136|0.0:0.6864:0.0:0.3136	.|.	62|.	A6NMX2|.	I4E1B_HUMAN|.	Q|N	62|3	ENSP00000323714:H62Q;ENSP00000421009:H62Q;ENSP00000427633:H62Q|.	ENSP00000323714:H62Q|.	H|T	+|+	3|2	2|0	EIF4E1B|EIF4E1B	176002859|176002859	0.895000|0.895000	0.30542|0.30542	0.949000|0.949000	0.38748|0.38748	0.183000|0.183000	0.23260|0.23260	0.213000|0.213000	0.17521|0.17521	0.709000|0.709000	0.31976|0.31976	0.561000|0.561000	0.74099|0.74099	CAC|ACC	.		0.632	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1	NM_001099408	
ADAMTS2	9509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	178770799	178770799	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:178770799G>T	ENST00000251582.7	-	2	604	c.503C>A	c.(502-504)tCc>tAc	p.S168Y	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.S168Y	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	168					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGCCACAGAGGAGGCTTCGGC	0.632																																					p.S168Y		.											.	ADAMTS2-228	0			c.C503A						.						13.0	14.0	14.0					5																	178770799		2091	4147	6238	SO:0001583	missense	9509	exon2			ACAGAGGAGGCTT	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.503C>A	5.37:g.178770799G>T	ENSP00000251582:p.Ser168Tyr	47	0		138	51	NM_021599	0	0	0	0	0		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954226	0.92726	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.13307	2.6;2.6	5.21	5.21	0.72293	Peptidase M12B, propeptide (1);	0.000000	0.41712	D	0.000836	T	0.31420	0.0796	L	0.55990	1.75	0.58432	D	0.99999	D;D	0.60160	0.987;0.971	P;P	0.60682	0.878;0.825	T	0.01810	-1.1269	10	0.87932	D	0	.	17.7434	0.88413	0.0:0.0:1.0:0.0	.	168;168	O95450-2;O95450	.;ATS2_HUMAN	Y	168	ENSP00000251582:S168Y;ENSP00000274609:S168Y	ENSP00000251582:S168Y	S	-	2	0	ADAMTS2	178703405	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.553000	0.98118	2.427000	0.82271	0.462000	0.41574	TCC	.		0.632	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
C5orf60	285679	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	179069972	179069972	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:179069972G>T	ENST00000448248.2	-	4	606	c.581C>A	c.(580-582)tCc>tAc	p.S194Y	C5orf60_ENST00000506142.1_5'UTR	NM_001142306.1	NP_001135778.1	A6NFR6	CE060_HUMAN	chromosome 5 open reading frame 60	194	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|kidney(5)	7						TGGCTTGGAGGAGCTCAGGGA	0.617																																					p.S194Y		.											.	.	0			c.C581A						.						61.0	66.0	64.0					5																	179069972		692	1591	2283	SO:0001583	missense	285679	exon4			TTGGAGGAGCTCA	BC043435	CCDS47353.1	5q35.3	2010-08-19			ENSG00000204661	ENSG00000204661			27753	protein-coding gene	gene with protein product						12477932	Standard	NM_001142306		Approved		uc003mki.3	A6NFR6	OTTHUMG00000163221	ENST00000448248.2:c.581C>A	5.37:g.179069972G>T	ENSP00000404583:p.Ser194Tyr	364	0		506	209	NM_001142306	0	0	0	0	0	A1L488|B7ZM52|B7ZM53	Missense_Mutation	SNP	ENST00000448248.2	37	CCDS47353.1	.	.	.	.	.	.	.	.	.	.	g	10.44	1.350634	0.24512	.	.	ENSG00000204661	ENST00000448248	T	0.32515	1.45	0.436	0.436	0.16549	.	.	.	.	.	T	0.34135	0.0887	N	0.22421	0.69	0.09310	N	1	D;D	0.58970	0.984;0.984	D;D	0.63877	0.919;0.919	T	0.17289	-1.0374	8	0.72032	D	0.01	.	.	.	.	.	194;194	A6NFR6-2;A6NFR6-4	.;.	Y	194	ENSP00000404583:S194Y	ENSP00000404583:S194Y	S	-	2	0	C5orf60	179002578	0.002000	0.14202	0.014000	0.15608	0.009000	0.06853	0.479000	0.22228	0.468000	0.27243	0.205000	0.17691	TCC	.		0.617	C5orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372148.2	NM_001142306	
MAML1	9794	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	179195985	179195985	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:179195985G>T	ENST00000292599.3	+	3	2129	c.1866G>T	c.(1864-1866)aaG>aaT	p.K622N	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTAATGAAGCAGCATCAGT	0.567																																					p.K622N		.											.	MAML1-848	0			c.G1866T						.						107.0	108.0	108.0					5																	179195985		2203	4300	6503	SO:0001583	missense	9794	exon3			AATGAAGCAGCAT	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1866G>T	5.37:g.179195985G>T	ENSP00000292599:p.Lys622Asn	157	1		187	67	NM_014757	0	0	0	0	0		Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805455	0.70682	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.52983	0.64	4.72	4.72	0.59763	.	0.158244	0.42964	D	0.000639	T	0.61160	0.2325	M	0.65975	2.015	0.58432	D	0.999996	D;P	0.65815	0.995;0.932	D;B	0.63877	0.919;0.375	T	0.60110	-0.7327	10	0.36615	T	0.2	-23.0626	10.9208	0.47163	0.088:0.0:0.912:0.0	.	659;622	Q59GH4;Q92585	.;MAML1_HUMAN	N	622;659	ENSP00000292599:K622N	ENSP00000292599:K622N	K	+	3	2	MAML1	179128591	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.873000	0.48475	2.165000	0.68154	0.561000	0.74099	AAG	.		0.567	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757	
BTNL9	153579	hgsc.bcm.edu	37	5	180486429	180486429	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:180486429G>T	ENST00000327705.9	+	11	1406	c.1175G>T	c.(1174-1176)cGc>cTc	p.R392L	BTNL9_ENST00000376842.3_Missense_Mutation_p.R393L	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	392	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACGTGGGCCGCCGCAGCCGC	0.781																																					p.R392L		.											.	BTNL9-91	0			c.G1175T						.						1.0	1.0	1.0					5																	180486429		680	1568	2248	SO:0001583	missense	153579	exon11			TGGGCCGCCGCAG	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1175G>T	5.37:g.180486429G>T	ENSP00000330200:p.Arg392Leu	0	0		20	13	NM_152547	0	0	0	0	0	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	g	12.59	1.985074	0.35036	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.61742	0.08;0.08	4.71	1.27	0.21489	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.49932	0.1586	L	0.42744	1.35	0.09310	N	1	B	0.21071	0.051	B	0.37780	0.258	T	0.50145	-0.8862	9	0.34782	T	0.22	.	3.2623	0.06853	0.3376:0.2067:0.4557:0.0	.	392	Q6UXG8	BTNL9_HUMAN	L	392;393	ENSP00000330200:R392L;ENSP00000366038:R393L	ENSP00000330200:R392L	R	+	2	0	BTNL9	180419035	0.000000	0.05858	0.068000	0.19968	0.370000	0.29829	1.362000	0.34148	0.509000	0.28195	0.298000	0.19748	CGC	.		0.781	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547	
IRF4	3662	ucsc.edu;bcgsc.ca	37	6	401669	401669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:401669C>T	ENST00000380956.4	+	7	1117	c.991C>T	c.(991-993)Cag>Tag	p.Q331*		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	331					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGACTGTGCCAGAGCAGGAT	0.592			T	IGH@	MM																																p.Q331X		.		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	IRF4-659	0			c.C991T						.						52.0	55.0	54.0					6																	401669		2203	4300	6503	SO:0001587	stop_gained	3662	exon7			CTGTGCCAGAGCA	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.991C>T	6.37:g.401669C>T	ENSP00000370343:p.Gln331*	219	3		247	92	NM_002460	0	0	0	0	0	Q5VUI7|Q99660	Nonsense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	37	6.330314	0.97480	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	.	.	.	5.67	5.67	0.87782	.	0.051589	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-27.7219	19.7657	0.96340	0.0:1.0:0.0:0.0	.	.	.	.	X	331;360	.	ENSP00000370343:Q331X	Q	+	1	0	IRF4	346669	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.440000	0.80464	2.649000	0.89929	0.655000	0.94253	CAG	.		0.592	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1		
BPHL	670	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	3140673	3140673	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:3140673C>A	ENST00000380379.5	+	6	767	c.718C>A	c.(718-720)Cac>Aac	p.H240N	BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000380375.3_Missense_Mutation_p.H223N|BPHL_ENST00000434640.1_Missense_Mutation_p.H223N|RP1-40E16.11_ENST00000447644.1_RNA	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	240					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CTTGATTGTGCACGGTGAGAA	0.562																																					p.H240N		.											.	BPHL-90	0			c.C718A						.						186.0	170.0	176.0					6																	3140673		2203	4300	6503	SO:0001583	missense	670	exon6			ATTGTGCACGGTG	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.718C>A	6.37:g.3140673C>A	ENSP00000369739:p.His240Asn	217	1		226	102	NM_004332	0	0	0	0	0	Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	ENST00000380379.5	37	CCDS4483.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.339182|4.339182	0.81911|0.81911	.|.	.|.	ENSG00000137274|ENSG00000137274	ENST00000423798|ENST00000434640;ENST00000380375;ENST00000380379	.|T;T;T	.|0.78924	.|-1.22;-1.22;-1.22	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.86843	.|0.6030	M|M	0.87097|0.87097	2.86|2.86	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	.|D	.|0.85013	.|0.0907	.|10	.|0.27082	.|T	.|0.32	-2.6145|-2.6145	16.4483|16.4483	0.83959|0.83959	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|240;223	.|Q86WA6;Q86WA6-2	.|BPHL_HUMAN;.	X|N	5|223;223;240	.|ENSP00000390472:H223N;ENSP00000369734:H223N;ENSP00000369739:H240N	.|ENSP00000369734:H223N	C|H	+|+	3|1	2|0	BPHL|BPHL	3085672|3085672	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.904000|0.904000	0.53231|0.53231	5.082000|5.082000	0.64450|0.64450	2.599000|2.599000	0.87857|0.87857	0.655000|0.655000	0.94253|0.94253	TGC|CAC	.		0.562	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5		
CDYL	9425	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	4954182	4954182	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:4954182G>T	ENST00000328908.5	+	9	1820	c.1689G>T	c.(1687-1689)ctG>ctT	p.L563L	CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Silent_p.L509L|CDYL_ENST00000449732.2_Silent_p.L377L|CDYL_ENST00000343762.5_Silent_p.L377L			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	563					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGATGGAGCTGGAGCAGGCCA	0.562																																					p.L509L		.											.	CDYL-90	0			c.G1527T						.						81.0	71.0	75.0					6																	4954182		2203	4300	6503	SO:0001819	synonymous_variant	9425	exon7			GGAGCTGGAGCAG	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1689G>T	6.37:g.4954182G>T		146	0		150	45	NM_004824	0	0	0	0	0	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37																																																																																				.		0.562	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824	
PPP1R3G	648791	hgsc.bcm.edu	37	6	5086070	5086070	+	Silent	SNP	A	A	G	rs667752		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:5086070A>G	ENST00000405617.2	+	1	351	c.351A>G	c.(349-351)gcA>gcG	p.A117A		NM_001145115.1	NP_001138587.1	B7ZBB8	PP13G_HUMAN	protein phosphatase 1, regulatory subunit 3G	117					glucose homeostasis (GO:0042593)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)	cytoplasm (GO:0005737)	glycogen binding (GO:2001069)			kidney(2)	2						CGGAGGACGCACAGCTCGGCC	0.692													G|||	5008	1.0	1.0	1.0	5008	,	,		12505	1.0		1.0	False		,,,				2504	1.0				p.A117A		.											.	PPP1R3G-136	0			c.A351G						.						1.0	2.0	2.0					6																	5086070		400	1062	1462	SO:0001819	synonymous_variant	648791	exon1			GGACGCACAGCTC		CCDS47366.1	6p25.1	2012-04-17	2011-10-04		ENSG00000219607	ENSG00000219607		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14945	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3G"""			11948623	Standard	NM_001145115		Approved		uc011dia.1	B7ZBB8	OTTHUMG00000014172	ENST00000405617.2:c.351A>G	6.37:g.5086070A>G		0	0		26	26	NM_001145115	0	0	0	0	0		Silent	SNP	ENST00000405617.2	37	CCDS47366.1																																																																																			A|0.006;G|0.994		0.692	PPP1R3G-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039740.3	NM_001145115	
DSP	1832	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	7579564	7579564	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:7579564C>A	ENST00000379802.3	+	23	3482	c.3141C>A	c.(3139-3141)gcC>gcA	p.A1047A	DSP_ENST00000418664.2_Silent_p.A1047A	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1047	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCCGAGATGCCAACTCGGAAA	0.448																																					p.A1047A		.											.	DSP-518	0			c.C3141A						.						39.0	43.0	42.0					6																	7579564		2203	4300	6503	SO:0001819	synonymous_variant	1832	exon23			AGATGCCAACTCG	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3141C>A	6.37:g.7579564C>A		112	1		104	34	NM_004415	0	0	0	0	0	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																			.		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
ATXN1	6310	hgsc.bcm.edu;broad.mit.edu	37	6	16328522	16328522	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:16328522C>A	ENST00000244769.4	-	8	956	c.20G>T	c.(19-21)cGg>cTg	p.R7L	ATXN1_ENST00000436367.1_Missense_Mutation_p.R7L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	7					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCGTTGCTCCGCTCTTGGTT	0.577																																					p.R7L		.											.	ATXN1-93	0			c.G20T						.						37.0	37.0	37.0					6																	16328522		2200	4291	6491	SO:0001583	missense	6310	exon7			TTGCTCCGCTCTT	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.20G>T	6.37:g.16328522C>A	ENSP00000244769:p.Arg7Leu	11	0		24	5	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201608	0.94997	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.48522	0.81;0.81	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68918	-0.5282	10	0.87932	D	0	-32.2884	18.7977	0.92001	0.0:1.0:0.0:0.0	.	7	P54253	ATX1_HUMAN	L	7	ENSP00000244769:R7L;ENSP00000416360:R7L	ENSP00000244769:R7L	R	-	2	0	ATXN1	16436501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.213000	0.77950	2.666000	0.90696	0.561000	0.74099	CGG	.		0.577	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
NHLRC1	378884	hgsc.bcm.edu	37	6	18122526	18122526	+	Silent	SNP	A	A	G	rs115931931	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:18122526A>G	ENST00000340650.3	-	1	325	c.312T>C	c.(310-312)caT>caC	p.H104H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	104					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGCGGCGCGATGGGCGGCCG	0.726													G|||	580	0.115815	0.2277	0.1138	5008	,	,		13206	0.0218		0.0905	False		,,,				2504	0.089				p.H104H		.											.	NHLRC1-90	0			c.T312C						.	G		697,3599		63,571,1514	7.0	9.0	9.0		312	-4.7	0.0	6	dbSNP_132	9	658,7728		34,590,3569	no	coding-synonymous	NHLRC1	NM_198586.2		97,1161,5083	GG,GA,AA		7.8464,16.2244,10.6844		104/396	18122526	1355,11327	2148	4193	6341	SO:0001819	synonymous_variant	378884	exon1			GGCGCGATGGGCG	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.312T>C	6.37:g.18122526A>G		0	0		10	6	NM_198586	0	0	0	0	0	Q3SYB1|Q5VUK7|Q6IMH1	Silent	SNP	ENST00000340650.3	37	CCDS4542.1																																																																																			A|0.885;G|0.115		0.726	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1		
CDKAL1	54901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	21000542	21000542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:21000542G>T	ENST00000378610.1	+	9	1004	c.994G>T	c.(994-996)Gaa>Taa	p.E332*	CDKAL1_ENST00000274695.4_Nonsense_Mutation_p.E332*|CDKAL1_ENST00000378624.4_Nonsense_Mutation_p.E262*			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	332					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CGTACTCATGGAAATGAAAAG	0.383																																					p.E332X		.											.	CDKAL1-92	0			c.G994T						.						107.0	109.0	108.0					6																	21000542		2203	4300	6503	SO:0001587	stop_gained	54901	exon11			CTCATGGAAATGA	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.994G>T	6.37:g.21000542G>T	ENSP00000367873:p.Glu332*	55	0		61	17	NM_017774	0	0	0	0	0	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Nonsense_Mutation	SNP	ENST00000378610.1	37	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	38	7.283224	0.98186	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	.	.	.	5.33	4.45	0.53987	.	0.438869	0.27406	N	0.019512	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	15.2855	0.73826	0.0:0.0:0.8586:0.1414	.	.	.	.	X	332;262;332	.	ENSP00000274695:E332X	E	+	1	0	CDKAL1	21108521	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.476000	0.97823	1.220000	0.43490	0.563000	0.77884	GAA	.		0.383	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774	
GPLD1	2822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	24473883	24473883	+	Missense_Mutation	SNP	C	C	A	rs139020496		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:24473883C>A	ENST00000230036.1	-	6	564	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	152					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GAATAGGAGCCGTGAAAATCA	0.393																																					p.G152C		.											.	GPLD1-228	0			c.G454T						.						50.0	49.0	49.0					6																	24473883		2203	4300	6503	SO:0001583	missense	2822	exon6			AGGAGCCGTGAAA	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.454G>T	6.37:g.24473883C>A	ENSP00000230036:p.Gly152Cys	60	0		88	49	NM_001503	0	0	0	0	0	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297111	0.40694	.	.	ENSG00000112293	ENST00000230036;ENST00000378243	T	0.46063	0.88	5.04	0.974	0.19715	.	0.646750	0.15255	N	0.272135	T	0.44767	0.1309	M	0.72118	2.19	0.25761	N	0.984944	D;D	0.89917	1.0;1.0	D;D	0.76071	0.969;0.987	T	0.34625	-0.9821	10	0.87932	D	0	-0.6172	9.0555	0.36403	0.0:0.6657:0.0:0.3343	.	152;152	P80108-2;P80108	.;PHLD_HUMAN	C	152	ENSP00000230036:G152C	ENSP00000230036:G152C	G	-	1	0	GPLD1	24581862	0.355000	0.24921	0.016000	0.15963	0.714000	0.41099	0.981000	0.29526	-0.140000	0.11394	0.557000	0.71058	GGC	C|1.000;T|0.000		0.393	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
SLC17A2	10246	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	25918769	25918769	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:25918769C>G	ENST00000265425.3	-	5	615	c.595G>C	c.(595-597)Gtg>Ctg	p.V199L	SLC17A2_ENST00000377850.3_Missense_Mutation_p.V199L|SLC17A2_ENST00000360488.3_Missense_Mutation_p.V199L			O00624	NPT3_HUMAN	solute carrier family 17, member 2	199					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGTCCCCCCACACAGAGGATG	0.443																																					p.V199L		.											.	SLC17A2-91	0			c.G595C						.						93.0	88.0	90.0					6																	25918769		2203	4300	6503	SO:0001583	missense	10246	exon6			CCCCCACACAGAG	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.595G>C	6.37:g.25918769C>G	ENSP00000265425:p.Val199Leu	130	1		173	60	NM_005835	0	0	0	0	0	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37		.	.	.	.	.	.	.	.	.	.	C	14.53	2.563972	0.45694	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.52057	0.68;0.68;0.68	4.22	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.259168	0.27513	N	0.019039	T	0.09423	0.0232	N	0.04746	-0.17	0.32718	N	0.510679	B;B;B	0.30824	0.11;0.11;0.296	B;B;B	0.31016	0.123;0.101;0.06	T	0.07868	-1.0750	10	0.02654	T	1	.	12.4083	0.55453	0.0:1.0:0.0:0.0	.	199;199;199	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	L	199	ENSP00000353677:V199L;ENSP00000367081:V199L;ENSP00000265425:V199L	ENSP00000265425:V199L	V	-	1	0	SLC17A2	26026748	0.999000	0.42202	0.998000	0.56505	0.956000	0.61745	2.197000	0.42696	2.637000	0.89404	0.655000	0.94253	GTG	.		0.443	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1		
HIST1H2AC	8334	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	26124666	26124666	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:26124666A>T	ENST00000602637.1	+	1	236	c.206A>T	c.(205-207)aAc>aTc	p.N69I	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.N69I			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	69						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CTGGCCGGCAACGCGGCTCGC	0.647																																					p.N69I		.											.	HIST1H2AC-90	0			c.A206T						.						79.0	77.0	78.0					6																	26124666		2203	4300	6503	SO:0001583	missense	8334	exon1			CCGGCAACGCGGC	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.206A>T	6.37:g.26124666A>T	ENSP00000473534:p.Asn69Ile	324	3		410	123	NM_003512	0	0	0	0	0	B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	23.8	4.458565	0.84317	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.68624	-0.34;-0.34	5.62	5.62	0.85841	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.48767	D	0.000176	D	0.85080	0.5615	H	0.95187	3.635	0.47476	D	0.999436	D	0.89917	1.0	D	0.97110	1.0	D	0.89608	0.3839	10	0.87932	D	0	.	15.294	0.73888	1.0:0.0:0.0:0.0	.	69	Q93077	H2A1C_HUMAN	I	69	ENSP00000367022:N69I;ENSP00000321389:N69I	ENSP00000321389:N69I	N	+	2	0	HIST1H2AC	26232645	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.096000	0.94182	2.267000	0.75376	0.383000	0.25322	AAC	.		0.647	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512	
HIST1H2BH	8345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	26252078	26252078	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:26252078T>A	ENST00000356350.2	+	1	200	c.200T>A	c.(199-201)gTc>gAc	p.V67D	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	67					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						AATTCCTTTGTCAACGATATC	0.567																																					p.V67D		.											.	HIST1H2BH-93	0			c.T200A						.						130.0	125.0	127.0					6																	26252078		2203	4300	6503	SO:0001583	missense	8345	exon1			CCTTTGTCAACGA	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.200T>A	6.37:g.26252078T>A	ENSP00000348706:p.Val67Asp	249	1		283	116	NM_003524	0	0	0	0	0	B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	17.52	3.409184	0.62399	.	.	ENSG00000197459	ENST00000356350	T	0.32515	1.45	4.65	4.65	0.58169	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.66674	0.2813	H	0.98833	4.345	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.81261	-0.1013	9	0.87932	D	0	.	13.9476	0.64094	0.0:0.0:0.0:1.0	.	67	Q93079	H2B1H_HUMAN	D	67	ENSP00000348706:V67D	ENSP00000348706:V67D	V	+	2	0	HIST1H2BH	26360057	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	6.020000	0.70826	2.032000	0.59987	0.482000	0.46254	GTC	.		0.567	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524	
BTN3A3	10384	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	26451901	26451901	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:26451901A>T	ENST00000244519.2	+	11	1261		c.e11-1		BTN3A3_ENST00000339789.4_Splice_Site|BTN3A3_ENST00000361232.3_Splice_Site	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3						T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AACTCTCTGCAGCGGATGTGA	0.562																																					.		.											.	BTN3A3-90	0			c.1019-2A>T						.						49.0	54.0	52.0					6																	26451901		2203	4300	6503	SO:0001630	splice_region_variant	10384	exon11			CTCTGCAGCGGAT	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1019-1A>T	6.37:g.26451901A>T		145	0		133	40	NM_006994	0	0	0	0	0	B4DWI7|E9PCP5	Splice_Site	SNP	ENST00000244519.2	37	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266370	0.40095	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000490254	.	.	.	3.06	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9082	0.19012	0.7658:0.0:0.0:0.2341	.	.	.	.	.	-1	.	.	.	+	.	.	BTN3A3	26559880	1.000000	0.71417	0.040000	0.18447	0.281000	0.26958	6.332000	0.72934	1.335000	0.45486	0.374000	0.22700	.	.		0.562	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994	Intron
HIST1H2BM	8342	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	27783029	27783029	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:27783029A>T	ENST00000359465.4	+	1	208	c.208A>T	c.(208-210)Atc>Ttc	p.I70F	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	70					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						CGTCAACGACATCTTTGAGCG	0.562																																					p.I70F		.											.	HIST1H2BM-131	0			c.A208T						.						147.0	135.0	139.0					6																	27783029		2203	4300	6503	SO:0001583	missense	8342	exon1			AACGACATCTTTG	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.208A>T	6.37:g.27783029A>T	ENSP00000352442:p.Ile70Phe	200	0		193	60	NM_003521	0	0	0	0	0	Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	16.58	3.162725	0.57368	.	.	ENSG00000196374	ENST00000359465	T	0.66460	-0.21	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	0.104091	0.37857	U	0.001910	T	0.80798	0.4692	H	0.96489	3.83	0.51233	D	0.999917	D	0.53312	0.959	P	0.62649	0.905	D	0.84588	0.0665	10	0.87932	D	0	.	7.7136	0.28692	0.9036:0.0:0.0964:0.0	.	70	Q99879	H2B1M_HUMAN	F	70	ENSP00000352442:I70F	ENSP00000352442:I70F	I	+	1	0	HIST1H2BM	27891008	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.721000	0.74728	1.869000	0.54173	0.460000	0.39030	ATC	.		0.562	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521	
TRIM27	5987	hgsc.bcm.edu;broad.mit.edu	37	6	28872409	28872409	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:28872409G>C	ENST00000377199.3	-	8	1336	c.980C>G	c.(979-981)cCc>cGc	p.P327R	TRIM27_ENST00000377194.3_Missense_Mutation_p.P327R	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GATCAGGCTGGGGTAGGCCGT	0.562			T	RET	papillary thyroid																																p.P327R		.		Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	.	TRIM27-684	0			c.C980G						.						39.0	42.0	41.0					6																	28872409		1509	2708	4217	SO:0001583	missense	5987	exon8			AGGCTGGGGTAGG	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.980C>G	6.37:g.28872409G>C	ENSP00000366404:p.Pro327Arg	8	0		6	4	NM_006510	0	0	0	0	0	A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599721	0.66332	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.13538	2.58;2.58	4.74	4.74	0.60224	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.51477	D	0.000097	T	0.22399	0.0540	L	0.46947	1.48	0.39799	D	0.972545	P;D	0.89917	0.713;1.0	B;D	0.97110	0.42;1.0	T	0.00607	-1.1647	10	0.52906	T	0.07	.	16.0358	0.80628	0.0:0.0:1.0:0.0	.	327;327	P14373-2;P14373	.;TRI27_HUMAN	R	327	ENSP00000366404:P327R;ENSP00000366399:P327R	ENSP00000366399:P327R	P	-	2	0	TRIM27	28980388	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.324000	0.52022	2.570000	0.86706	0.650000	0.86243	CCC	.		0.562	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950	
GABBR1	2550	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	29581230	29581230	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:29581230C>A	ENST00000377034.4	-	12	1691	c.1356G>T	c.(1354-1356)aaG>aaT	p.K452N	GABBR1_ENST00000355973.3_Missense_Mutation_p.K335N|GABBR1_ENST00000377016.4_Missense_Mutation_p.K390N|GABBR1_ENST00000376977.3_Missense_Mutation_p.K452N|GABBR1_ENST00000377012.4_Missense_Mutation_p.K335N	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	452					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TTTTCAGTCGCTTGGTTAGTT	0.527																																					p.K452N		.											.	GABBR1-521	0			c.G1356T						.						122.0	131.0	128.0					6																	29581230		1510	2709	4219	SO:0001583	missense	2550	exon12			CAGTCGCTTGGTT	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1356G>T	6.37:g.29581230C>A	ENSP00000366233:p.Lys452Asn	125	0		149	52	NM_001470	0	0	0	0	0	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995504	0.35226	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.84	-2.1	0.07210	Extracellular ligand-binding receptor (1);	0.283963	0.34291	N	0.004085	T	0.20941	0.0504	N	0.02775	-0.495	0.29208	N	0.874772	B;B;B;B	0.32010	0.026;0.321;0.101;0.351	B;B;B;B	0.29862	0.009;0.108;0.082;0.089	T	0.43540	-0.9385	10	0.11182	T	0.66	-3.7168	12.1722	0.54165	0.0:0.3289:0.0:0.6711	.	452;390;452;335	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	N	335;452;390;335;452	ENSP00000348248:K335N;ENSP00000366176:K452N;ENSP00000366215:K390N;ENSP00000366211:K335N;ENSP00000366233:K452N	ENSP00000348248:K335N	K	-	3	2	GABBR1	29689209	0.310000	0.24527	0.820000	0.32676	0.998000	0.95712	-0.170000	0.09897	-0.845000	0.04179	0.655000	0.94253	AAG	.		0.527	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
TRIM10	10107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	30126189	30126189	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:30126189C>A	ENST00000449742.2	-	3	818	c.743G>T	c.(742-744)aGg>aTg	p.R248M	TRIM10_ENST00000376704.3_Missense_Mutation_p.R248M	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	248					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CAGGAGCTCCCTTGCTGGCCT	0.537																																					p.R248M		.											.	TRIM10-226	0			c.G743T						.						161.0	180.0	173.0					6																	30126189		1511	2709	4220	SO:0001583	missense	10107	exon3			AGCTCCCTTGCTG	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.743G>T	6.37:g.30126189C>A	ENSP00000397073:p.Arg248Met	110	0		114	31	NM_052828	0	0	0	0	0	A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274901	0.23307	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.04603	3.59;3.59	5.77	0.733	0.18289	.	0.321086	0.27004	N	0.021408	T	0.06280	0.0162	M	0.81682	2.555	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.22347	-1.0219	10	0.23891	T	0.37	.	3.5056	0.07689	0.3015:0.4538:0.0:0.2447	.	248;248	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	M	248	ENSP00000397073:R248M;ENSP00000365894:R248M	ENSP00000365894:R248M	R	-	2	0	TRIM10	30234168	0.000000	0.05858	0.073000	0.20177	0.087000	0.18053	-0.343000	0.07791	0.095000	0.17434	-0.163000	0.13421	AGG	.		0.537	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1		
MICB	4277	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31474946	31474946	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:31474946G>C	ENST00000252229.6	+	4	840	c.761G>C	c.(760-762)gGg>gCg	p.G254A	MICB_ENST00000399150.3_Missense_Mutation_p.G211A|MICB_ENST00000538442.1_Missense_Mutation_p.G222A	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CAGCAGTGGGGGGATGTCCTG	0.572																																					p.G254A		.											.	MICB-90	0			c.G761C						.						52.0	57.0	55.0					6																	31474946		1363	2609	3972	SO:0001583	missense	4277	exon4			AGTGGGGGGATGT		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.761G>C	6.37:g.31474946G>C	ENSP00000252229:p.Gly254Ala	278	0		315	54	NM_005931	0	0	0	0	0		Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	-	12.00	1.808009	0.31961	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.02787	4.16;4.16;4.16	2.73	-0.584	0.11702	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.495590	0.04858	U	0.443510	T	0.01905	0.0060	M	0.83312	2.635	0.09310	N	1	P;D;P	0.53619	0.641;0.961;0.947	B;P;P	0.53518	0.19;0.728;0.529	T	0.45804	-0.9236	10	0.02654	T	1	.	0.5103	0.00594	0.2476:0.1768:0.3631:0.2125	.	222;211;254	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	A	222;211;254	ENSP00000442345:G222A;ENSP00000382103:G211A;ENSP00000252229:G254A	ENSP00000252229:G254A	G	+	2	0	MICB	31582925	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.105000	0.10907	-0.336000	0.08438	-0.680000	0.03767	GGG	.		0.572	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931	
C6orf47	57827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31627653	31627653	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:31627653C>A	ENST00000375911.1	-	1	896	c.72G>T	c.(70-72)ccG>ccT	p.P24P	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	24						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CTGGGTAAGGCGGGTCAGGCC	0.602																																					p.P24P		.											.	C6orf47-91	0			c.G72T						.						22.0	22.0	22.0					6																	31627653		1508	2708	4216	SO:0001819	synonymous_variant	57827	exon1			GTAAGGCGGGTCA	AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.72G>T	6.37:g.31627653C>A		136	0		154	49	NM_021184	0	0	0	0	0	B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Silent	SNP	ENST00000375911.1	37	CCDS34399.1																																																																																			.		0.602	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184	
LY6G6D	58530	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31681633	31681633	+	5'Flank	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:31681633C>A	ENST00000375825.3	+	0	0				XXbac-BPG32J3.20_ENST00000461287.1_5'UTR|LY6G6E_ENST00000409239.1_Missense_Mutation_p.G11V|MEGT1_ENST00000503322.1_Intron|LY6G6E_ENST00000383418.4_5'Flank|LY6G6F_ENST00000556581.1_Intron	NM_021246.2	NP_067069.2	O95868	LY66D_HUMAN	lymphocyte antigen 6 complex, locus G6D							anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|plasma membrane (GO:0005886)				central_nervous_system(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GATCTGCACCCCGAGATCCCG	0.557																																					.		.											.	.	0			.						.																																			SO:0001631	upstream_gene_variant	79136	.			TGCACCCCGAGAT		CCDS34404.1	6p21.3	2008-08-29	2002-07-29	2002-08-01	ENSG00000244355	ENSG00000244355			13935	protein-coding gene	gene with protein product		606038	"""chromosome 6 open reading frame 23"""	C6orf23		12079290	Standard	NM_021246		Approved	MEGT1, Ly6-D, G6D, LY6-D, NG25		O95868	OTTHUMG00000137370		6.37:g.31681633C>A	Exception_encountered	99	0		139	45	.	0	0	0	0	0	A2BEY8|B0UXC1|B0V019|B0V1Y6|Q4VX50	RNA	SNP	ENST00000375825.3	37	CCDS34404.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102705	0.20632	.	.	ENSG00000255552	ENST00000409239	T	0.11930	2.73	3.61	2.73	0.32206	.	.	.	.	.	T	0.07638	0.0192	.	.	.	0.19945	N	0.999942	.	.	.	.	.	.	T	0.23726	-1.0180	6	0.87932	D	0	.	7.216	0.25959	0.0:0.8777:0.0:0.1223	.	.	.	.	V	11	ENSP00000386842:G11V	ENSP00000386842:G11V	G	-	2	0	AL662899.1	31789612	0.108000	0.22018	0.064000	0.19789	0.013000	0.08279	0.839000	0.27586	1.107000	0.41642	-0.300000	0.09419	GGG	.		0.557	LY6G6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144875.2		
VARS	7407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31759413	31759413	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:31759413G>A	ENST00000375663.3	-	8	1514	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N	VARS_ENST00000444930.2_Silent_p.N63N	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	358					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGGATGGCGTTGGTGAGTG	0.582																																					p.N358N		.											.	VARS-93	0			c.C1074T						.						144.0	103.0	118.0					6																	31759413		1511	2708	4219	SO:0001819	synonymous_variant	7407	exon8			GATGGCGTTGGTG	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1074C>T	6.37:g.31759413G>A		231	0		251	43	NM_006295	0	0	0	0	0	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	CCDS34412.1																																																																																			.		0.582	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295	
NELFE	7936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31922485	31922485	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:31922485C>T	ENST00000375429.3	-	7	815	c.589G>A	c.(589-591)Gac>Aac	p.D197N	NELFE_ENST00000444811.2_Missense_Mutation_p.D167N|NELFE_ENST00000375425.5_Missense_Mutation_p.D204N|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	197	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										cggtctctgtcccggttcctc	0.642																																					p.D197N		.											.	.	0			c.G589A						.						42.0	41.0	41.0					6																	31922485		2203	4300	6503	SO:0001583	missense	7936	exon7			CTCTGTCCCGGTT	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.589G>A	6.37:g.31922485C>T	ENSP00000364578:p.Asp197Asn	83	0		78	29	NM_002904	0	0	0	0	0	A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786445	0.70337	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T;T	0.11712	2.75;2.75;2.98;2.75;2.75;2.75	5.31	4.44	0.53790	.	0.225092	0.35349	N	0.003271	T	0.02047	0.0064	N	0.08118	0	0.40543	D	0.981049	B;B;B;B	0.18310	0.004;0.027;0.027;0.01	B;B;B;B	0.14023	0.002;0.01;0.007;0.002	T	0.33675	-0.9859	10	0.51188	T	0.08	-19.2003	8.5925	0.33697	0.0:0.7641:0.1534:0.0824	.	167;192;192;197	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	N	197;204;167;192;197;192	ENSP00000364578:D197N;ENSP00000364574:D204N;ENSP00000388400:D167N;ENSP00000397914:D192N;ENSP00000409389:D197N;ENSP00000414029:D192N	ENSP00000364574:D204N	D	-	1	0	RDBP	32030464	0.969000	0.33509	1.000000	0.80357	0.960000	0.62799	3.499000	0.53310	1.250000	0.43966	0.655000	0.94253	GAC	.		0.642	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4		
NELFE	7936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31926215	31926215	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:31926215C>T	ENST00000375429.3	-	2	235	c.9G>A	c.(7-9)gtG>gtA	p.V3V	NELFE_ENST00000444811.2_Silent_p.V3V|NELFE_ENST00000375425.5_Silent_p.V10V|MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000375394.2_5'Flank|SKIV2L_ENST00000544581.1_5'Flank	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	3					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CGGGGGGTATCACCAACATGG	0.552																																					p.V3V		.											.	.	0			c.G9A						.						145.0	136.0	139.0					6																	31926215		1511	2709	4220	SO:0001819	synonymous_variant	7936	exon2			GGGTATCACCAAC	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.9G>A	6.37:g.31926215C>T		63	0		78	34	NM_002904	0	0	0	0	0	A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	ENST00000375429.3	37	CCDS4730.1																																																																																			.		0.552	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4		
RXRB	6257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33164382	33164382	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:33164382C>A	ENST00000374680.3	-	5	1033	c.822G>T	c.(820-822)gcG>gcT	p.A274A	RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000544186.1_Splice_Site_p.A84A|RXRB_ENST00000413614.2_Splice_Site_p.A178A|RXRB_ENST00000374685.4_Splice_Site_p.A274A	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	274	Hinge.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCTCCTGTACCGCTGCAGGGG	0.607																																					p.A274A		.											.	RXRB-189	0			c.G822T						.						40.0	52.0	48.0					6																	33164382		1503	2703	4206	SO:0001630	splice_region_variant	6257	exon5			CTGTACCGCTGCA	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.821-1G>T	6.37:g.33164382C>A		67	0		60	12	NM_021976	0	0	0	0	0	P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	ENST00000374680.3	37	CCDS4768.1																																																																																			C|1.000;T|0.000		0.607	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976	Silent
ZBTB22	9278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33283358	33283358	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:33283358C>A	ENST00000431845.2	-	2	1487	c.1336G>T	c.(1336-1338)Ggg>Tgg	p.G446W	ZBTB22_ENST00000418724.1_Missense_Mutation_p.G446W|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	446					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCTTGGTTCCCTGGTGGTTGG	0.652																																					p.G446W		.											.	ZBTB22-69	0			c.G1336T						.						106.0	117.0	113.0					6																	33283358		2203	4300	6503	SO:0001583	missense	9278	exon2			GGTTCCCTGGTGG	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1336G>T	6.37:g.33283358C>A	ENSP00000407545:p.Gly446Trp	236	0		259	93	NM_001145338	0	0	0	0	0	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211261	0.39102	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.08282	3.11;3.11	4.22	3.35	0.38373	.	0.000000	0.34156	N	0.004215	T	0.05960	0.0155	L	0.47716	1.5	0.32832	D	0.504209	D	0.58620	0.983	P	0.53006	0.715	T	0.17684	-1.0361	10	0.46703	T	0.11	.	7.7456	0.28866	0.0:0.8846:0.0:0.1154	.	446	O15209	ZBT22_HUMAN	W	446	ENSP00000404403:G446W;ENSP00000407545:G446W	ENSP00000404403:G446W	G	-	1	0	ZBTB22	33391336	0.993000	0.37304	0.988000	0.46212	0.917000	0.54804	1.528000	0.35985	0.980000	0.38523	0.448000	0.29417	GGG	.		0.652	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2		
PHF1	5252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33381015	33381015	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:33381015G>C	ENST00000374516.3	+	5	651	c.380G>C	c.(379-381)gGa>gCa	p.G127A	PHF1_ENST00000374512.3_Missense_Mutation_p.G127A	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	127					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCAGCCCCTGGAGAGGGAGAG	0.552																																					p.G127A		.											.	PHF1-226	0			c.G380C						.						112.0	111.0	111.0					6																	33381015		2203	4300	6503	SO:0001583	missense	5252	exon5			CCCCTGGAGAGGG	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.380G>C	6.37:g.33381015G>C	ENSP00000363640:p.Gly127Ala	142	0		122	57	NM_002636	0	0	0	0	0	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919239	0.33908	.	.	ENSG00000112511	ENST00000427004;ENST00000428274;ENST00000374512;ENST00000374516	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.9	4.9	0.64082	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.550372	0.19208	N	0.120003	T	0.52805	0.1757	N	0.03324	-0.35	0.37395	D	0.912614	B;B	0.25563	0.113;0.129	B;B	0.26517	0.07;0.048	T	0.53542	-0.8424	10	0.06757	T	0.87	-23.1353	11.3345	0.49496	0.0:0.1832:0.8168:0.0	.	127;127	O43189-2;O43189	.;PHF1_HUMAN	A	127	ENSP00000410494:G127A;ENSP00000392697:G127A;ENSP00000363636:G127A;ENSP00000363640:G127A	ENSP00000363636:G127A	G	+	2	0	PHF1	33488993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.968000	0.70413	2.547000	0.85894	0.655000	0.94253	GGA	.		0.552	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3		
GRM4	2914	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	34101175	34101175	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:34101175C>A	ENST00000538487.2	-	2	542	c.99G>T	c.(97-99)aaG>aaT	p.K33N	GRM4_ENST00000374181.4_Missense_Mutation_p.K33N|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	33					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGCCTTTGGGCTTTCCCAGGG	0.637																																					p.K33N		.											.	GRM4-525	0			c.G99T						.						34.0	33.0	34.0					6																	34101175		2201	4300	6501	SO:0001583	missense	2914	exon2			TTTGGGCTTTCCC	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.99G>T	6.37:g.34101175C>A	ENSP00000440556:p.Lys33Asn	127	0		210	76	NM_001256811	0	0	0	0	0	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591166	0.28357	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	D;D	0.88509	-2.39;-2.39	4.19	1.38	0.22167	.	0.064315	0.64402	D	0.000016	T	0.68577	0.3016	L	0.29908	0.895	0.80722	D	1	P;B	0.40638	0.725;0.0	B;B	0.37387	0.248;0.001	T	0.64360	-0.6426	10	0.26408	T	0.33	.	9.0844	0.36572	0.0:0.6667:0.0:0.3333	.	33;33	B7ZLU9;Q14833	.;GRM4_HUMAN	N	33	ENSP00000363296:K33N;ENSP00000440556:K33N	ENSP00000363296:K33N	K	-	3	2	GRM4	34209153	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.633000	0.37113	0.522000	0.28464	0.467000	0.42956	AAG	.		0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2		
DNAH8	1769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	38890846	38890846	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:38890846G>T	ENST00000359357.3	+	70	10278	c.10024G>T	c.(10024-10026)Gac>Tac	p.D3342Y	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3559Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3306Y|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3342	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGCTTAATGACGCTGATAC	0.423																																					p.D3559Y		.											.	DNAH8-615	0			c.G10675T						.						55.0	57.0	56.0					6																	38890846		2203	4300	6503	SO:0001583	missense	1769	exon72			CTTAATGACGCTG	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10024G>T	6.37:g.38890846G>T	ENSP00000352312:p.Asp3342Tyr	45	0		37	9	NM_001206927	0	0	0	0	0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.419959	0.83559	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.51	5.51	0.81932	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.89846	0.6833	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91832	0.5476	10	0.87932	D	0	.	19.7815	0.96417	0.0:0.0:1.0:0.0	.	3342	Q96JB1	DYH8_HUMAN	Y	3547;3547;3342;3306	ENSP00000415331:D3547Y;ENSP00000333363:D3547Y;ENSP00000352312:D3342Y;ENSP00000402294:D3306Y	ENSP00000333363:D3547Y	D	+	1	0	DNAH8	38998824	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.766000	0.98957	2.746000	0.94184	0.655000	0.94253	GAC	.		0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
KCNK5	8645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	39162077	39162077	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:39162077C>A	ENST00000359534.3	-	4	840	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	168					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						ACGCCCCACACGATGAAGATG	0.557																																					p.V168L		.											.	KCNK5-227	0			c.G502T						.						150.0	114.0	126.0					6																	39162077		2203	4300	6503	SO:0001583	missense	8645	exon4			CCCACACGATGAA	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.502G>T	6.37:g.39162077C>A	ENSP00000352527:p.Val168Leu	358	1		401	134	NM_003740	0	0	0	0	0	B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	4.879	0.163455	0.09287	.	.	ENSG00000164626	ENST00000359534	T	0.20463	2.07	5.84	-1.37	0.09056	.	0.549694	0.18851	N	0.129395	T	0.00998	0.0033	N	0.00765	-1.205	0.31561	N	0.657527	B	0.02656	0.0	B	0.08055	0.003	T	0.41998	-0.9477	10	0.02654	T	1	.	5.5888	0.17289	0.1009:0.3568:0.4213:0.1209	.	168	O95279	KCNK5_HUMAN	L	168	ENSP00000352527:V168L	ENSP00000352527:V168L	V	-	1	0	KCNK5	39270055	0.357000	0.24938	0.957000	0.39632	0.985000	0.73830	-0.036000	0.12185	-0.153000	0.11137	-0.305000	0.09177	GTG	.		0.557	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740	
KCNK16	83795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	39284652	39284652	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:39284652C>A	ENST00000373229.5	-	4	580	c.567G>T	c.(565-567)atG>atT	p.M189I	KCNK16_ENST00000425054.2_Missense_Mutation_p.M189I|KCNK16_ENST00000507712.1_Missense_Mutation_p.M124I|KCNK17_ENST00000373231.4_5'Flank|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000437525.2_Missense_Mutation_p.M189I|KCNK16_ENST00000373227.4_Missense_Mutation_p.M189I	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	189					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GGCTGAAGACCATGGGTGGGA	0.562																																					p.M189I		.											.	KCNK16-229	0			c.G567T						.						116.0	115.0	115.0					6																	39284652		2203	4300	6503	SO:0001583	missense	83795	exon4			GAAGACCATGGGT	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.567G>T	6.37:g.39284652C>A	ENSP00000362326:p.Met189Ile	106	0		112	40	NM_001135106	0	0	0	0	0	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292685	0.23564	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.5	4.63	0.57726	Ion transport 2 (1);	0.202066	0.50627	N	0.000102	T	0.06234	0.0161	N	0.12920	0.275	0.33118	D	0.541428	B;B;B;B	0.17667	0.001;0.0;0.023;0.005	B;B;B;B	0.17098	0.002;0.0;0.006;0.017	T	0.18903	-1.0322	10	0.13470	T	0.59	.	15.9776	0.80083	0.0:0.8647:0.1353:0.0	.	189;189;189;189	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	I	189;189;124;189;189	ENSP00000362326:M189I;ENSP00000391498:M189I;ENSP00000423842:M124I;ENSP00000362324:M189I;ENSP00000415375:M189I	ENSP00000362324:M189I	M	-	3	0	KCNK16	39392630	0.006000	0.16342	0.771000	0.31576	0.465000	0.32709	0.113000	0.15499	1.322000	0.45245	0.561000	0.74099	ATG	.		0.562	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115	
DAAM2	23500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	39851832	39851832	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:39851832A>T	ENST00000398904.2	+	15	2122	c.1940A>T	c.(1939-1941)tAc>tTc	p.Y647F	RP11-61I13.3_ENST00000607675.1_RNA|RP11-61I13.3_ENST00000607215.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.Y647F|DAAM2_ENST00000538976.1_Missense_Mutation_p.Y647F			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	647	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTTTCAGCCTACCAGAGGCAC	0.493																																					p.Y647F		.											.	DAAM2-228	0			c.A1940T						.						68.0	65.0	66.0					6																	39851832		1895	4115	6010	SO:0001583	missense	23500	exon15			CAGCCTACCAGAG	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1940A>T	6.37:g.39851832A>T	ENSP00000381876:p.Tyr647Phe	91	0		96	45	NM_015345	0	0	0	0	0	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661171	0.88154	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17213	2.29;2.29;2.29	5.93	5.93	0.95920	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	M	0.82716	2.605	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.91635	0.995;0.999	T	0.40646	-0.9552	10	0.87932	D	0	.	16.0444	0.80711	1.0:0.0:0.0:0.0	.	647;647	G5EA45;Q86T65	.;DAAM2_HUMAN	F	647	ENSP00000274867:Y647F;ENSP00000381876:Y647F;ENSP00000437808:Y647F	ENSP00000274867:Y647F	Y	+	2	0	DAAM2	39959810	1.000000	0.71417	0.996000	0.52242	0.781000	0.44180	9.294000	0.96088	2.271000	0.75665	0.459000	0.35465	TAC	.		0.493	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		
LRFN2	57497	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	40359771	40359771	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:40359771C>T	ENST00000338305.6	-	3	2823	c.2281G>A	c.(2281-2283)Ggc>Agc	p.G761S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	761						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGAGCATGCCGTTGACAGAG	0.652																																					p.G761S		.											.	LRFN2-93	0			c.G2281A						.						51.0	50.0	50.0					6																	40359771		2203	4300	6503	SO:0001583	missense	57497	exon3			GCATGCCGTTGAC	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2281G>A	6.37:g.40359771C>T	ENSP00000345985:p.Gly761Ser	233	1		312	116	NM_020737	0	0	0	0	0	A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297598	0.81025	.	.	ENSG00000156564	ENST00000338305	T	0.68025	-0.3	5.23	4.36	0.52297	.	0.046795	0.85682	D	0.000000	T	0.71117	0.3302	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75028	-0.3462	10	0.59425	D	0.04	.	13.9191	0.63919	0.1536:0.8464:0.0:0.0	.	761	Q9ULH4	LRFN2_HUMAN	S	761	ENSP00000345985:G761S	ENSP00000345985:G761S	G	-	1	0	LRFN2	40467749	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.703000	0.84585	1.198000	0.43158	-0.334000	0.08254	GGC	.		0.652	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
FOXP4	116113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	41555166	41555166	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:41555166C>G	ENST00000307972.4	+	6	800	c.788C>G	c.(787-789)gCc>gGc	p.A263G	FOXP4_ENST00000373063.3_Missense_Mutation_p.A262G|FOXP4_ENST00000409208.1_Missense_Mutation_p.A263G|FOXP4_ENST00000373060.1_Missense_Mutation_p.A263G|FOXP4_ENST00000373057.3_Missense_Mutation_p.A261G			Q8IVH2	FOXP4_HUMAN	forkhead box P4	263					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACCTCGTTTGCCGCTCCCCCC	0.682											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.A263G		.											.	FOXP4-289	0			c.C788G						.						70.0	73.0	72.0					6																	41555166		2203	4300	6503	SO:0001583	missense	116113	exon7			CGTTTGCCGCTCC	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.788C>G	6.37:g.41555166C>G	ENSP00000309823:p.Ala263Gly	192	0	902	333	42	NM_001012426	0	0	0	0	0	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684816	0.29872	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.92	4.92	0.64577	.	0.331531	0.27371	N	0.019674	T	0.09512	0.0234	N	0.08118	0	0.22066	N	0.999384	B;B;B	0.20261	0.043;0.043;0.0	B;B;B	0.19946	0.027;0.027;0.002	T	0.20042	-1.0287	10	0.51188	T	0.08	.	18.2964	0.90147	0.0:1.0:0.0:0.0	.	262;261;263	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	G	263;262;263;261;263	ENSP00000362151:A263G;ENSP00000362154:A262G;ENSP00000386958:A263G;ENSP00000362148:A261G;ENSP00000309823:A263G	ENSP00000309823:A263G	A	+	2	0	FOXP4	41663144	0.982000	0.34865	0.474000	0.27266	0.006000	0.05464	2.681000	0.46926	2.546000	0.85860	0.655000	0.94253	GCC	.		0.682	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457	
PTCRA	171558	hgsc.bcm.edu	37	6	42893152	42893152	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:42893152C>A	ENST00000304672.1	+	4	659	c.578C>A	c.(577-579)tCc>tAc	p.S193Y	PTCRA_ENST00000446507.1_Missense_Mutation_p.S86Y|PTCRA_ENST00000441198.1_Missense_Mutation_p.S168Y	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	193					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GCCCTCGGCTCCCATCGACTG	0.726																																					p.S208Y		.											.	PTCRA-92	0			c.C623A						.						9.0	8.0	9.0					6																	42893152		2102	4063	6165	SO:0001583	missense	171558	exon4			TCGGCTCCCATCG	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.578C>A	6.37:g.42893152C>A	ENSP00000304447:p.Ser193Tyr	5	0		78	31	NM_001243168	0	0	0	0	0	Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	9.152	1.016584	0.19355	.	.	ENSG00000171611	ENST00000304672;ENST00000441198;ENST00000446507	T;T;T	0.54866	1.21;1.19;0.55	3.99	1.11	0.20524	.	3.827400	0.00834	N	0.001692	T	0.16727	0.0402	N	0.14661	0.345	0.09310	N	1	P;P;B	0.35328	0.495;0.495;0.345	B;B;B	0.34242	0.178;0.125;0.088	T	0.18935	-1.0321	10	0.72032	D	0.01	.	4.8851	0.13699	0.0:0.6141:0.1753:0.2106	.	86;168;193	Q6ISU1-2;Q6ISU1-3;Q6ISU1	.;.;PTCRA_HUMAN	Y	193;168;86	ENSP00000304447:S193Y;ENSP00000409550:S168Y;ENSP00000392288:S86Y	ENSP00000304447:S193Y	S	+	2	0	PTCRA	43001130	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.083000	0.14871	0.079000	0.16929	-0.137000	0.14449	TCC	.		0.726	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296	
PEX6	5190	hgsc.bcm.edu	37	6	42946490	42946490	+	Silent	SNP	C	C	A	rs9462858	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	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		15	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	
KLC4	89953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	43038449	43038449	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:43038449C>G	ENST00000394056.2	+	9	1496	c.1001C>G	c.(1000-1002)cCa>cGa	p.P334R	KLC4_ENST00000259708.3_Missense_Mutation_p.P352R|KLC4_ENST00000394058.1_Missense_Mutation_p.P334R|KLC4_ENST00000453940.2_Missense_Mutation_p.P257R|KLC4_ENST00000479388.1_Missense_Mutation_p.P334R|KLC4_ENST00000347162.5_Missense_Mutation_p.P334R			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	334						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			ACGAATCATCCAGATGTGGCA	0.512																																					p.P352R		.											.	KLC4-94	0			c.C1055G						.						89.0	80.0	83.0					6																	43038449		2203	4300	6503	SO:0001583	missense	89953	exon8			ATCATCCAGATGT	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1001C>G	6.37:g.43038449C>G	ENSP00000377620:p.Pro334Arg	207	0		293	111	NM_201523	0	0	0	0	0	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916632	0.92249	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.69561	-0.41;0.47;-0.41;-0.41;-0.41;-0.41	6.05	6.05	0.98169	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000004	D	0.83211	0.5205	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84155	0.0425	10	0.87932	D	0	-17.8706	20.6087	0.99469	0.0:1.0:0.0:0.0	.	257;352;334	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	R	334;257;352;334;334;334	ENSP00000340221:P334R;ENSP00000395806:P257R;ENSP00000259708:P352R;ENSP00000418031:P334R;ENSP00000377620:P334R;ENSP00000377622:P334R	ENSP00000259708:P352R	P	+	2	0	KLC4	43146427	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	6.007000	0.70731	2.866000	0.98385	0.650000	0.86243	CCA	.		0.512	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343	
SLC22A7	10864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	43266402	43266402	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:43266402G>C	ENST00000372585.5	+	1	401	c.306G>C	c.(304-306)ggG>ggC	p.G102G	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Silent_p.G102G|SLC22A7_ENST00000372589.3_Silent_p.G102G	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	102					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	AGAGCCGTGGGGAGCTGGAGG	0.602																																					p.G102G		.											.	SLC22A7-90	0			c.G306C						.						48.0	52.0	50.0					6																	43266402		2203	4300	6503	SO:0001819	synonymous_variant	10864	exon1			CCGTGGGGAGCTG	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.306G>C	6.37:g.43266402G>C		103	0		130	55	NM_006672	0	0	0	0	0	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Silent	SNP	ENST00000372585.5	37	CCDS4893.2																																																																																			.		0.602	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1		
TJAP1	93643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	43472938	43472938	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:43472938G>T	ENST00000372445.5	+	11	1395	c.1019G>T	c.(1018-1020)cGg>cTg	p.R340L	TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.R330L|TJAP1_ENST00000438588.2_Missense_Mutation_p.R340L|TJAP1_ENST00000259751.1_Missense_Mutation_p.R330L|TJAP1_ENST00000372444.2_Missense_Mutation_p.R330L|TJAP1_ENST00000372452.1_Missense_Mutation_p.R330L|TJAP1_ENST00000372449.1_Missense_Mutation_p.R340L	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	340					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GATAAGGTTCGGATCCCCCGC	0.627																																					p.R340L		.											.	TJAP1-90	0			c.G1019T						.						71.0	78.0	76.0					6																	43472938		2203	4300	6503	SO:0001583	missense	93643	exon11			AGGTTCGGATCCC	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.1019G>T	6.37:g.43472938G>T	ENSP00000361522:p.Arg340Leu	122	0		107	35	NM_001146016	0	0	0	0	0	Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	g	19.92	3.915956	0.73098	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.57	3.81	0.43845	.	0.105878	0.64402	D	0.000008	T	0.44008	0.1273	M	0.62723	1.935	0.35502	D	0.799876	P;P	0.51933	0.949;0.949	P;P	0.48524	0.58;0.58	T	0.52200	-0.8607	9	0.72032	D	0.01	-38.2399	12.1705	0.54155	0.1381:0.0:0.8619:0.0	.	340;330	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	L	330;340;330;330;330;330;340;340	.	ENSP00000259751:R330L	R	+	2	0	TJAP1	43580916	1.000000	0.71417	0.796000	0.32109	0.992000	0.81027	4.238000	0.58688	0.734000	0.32515	-0.119000	0.15052	CGG	.		0.627	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604	
POLR1C	9533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	43488718	43488718	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:43488718G>T	ENST00000372389.3	+	8	942	c.854G>T	c.(853-855)aGa>aTa	p.R285I	POLR1C_ENST00000372344.2_Missense_Mutation_p.R235I|POLR1C_ENST00000304004.3_Missense_Mutation_p.R285I|RP3-337H4.9_ENST00000607571.1_RNA	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	285					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ACCTTCAGCAGAGAAATCTTC	0.448																																					p.R285I		.											.	POLR1C-90	0			c.G854T						.						97.0	104.0	101.0					6																	43488718		2203	4300	6503	SO:0001583	missense	9533	exon8			TCAGCAGAGAAAT	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.854G>T	6.37:g.43488718G>T	ENSP00000361465:p.Arg285Ile	68	0		91	34	NM_203290	0	0	0	0	0	O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	CCDS4901.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790353	0.90367	.	.	ENSG00000171453	ENST00000372389;ENST00000372373;ENST00000372344;ENST00000304004	D;D;D	0.84223	-1.82;-1.82;-1.82	4.89	4.89	0.63831	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93950	0.7231	10	0.87932	D	0	-16.6097	18.109	0.89529	0.0:0.0:1.0:0.0	.	285;285	O15160-2;O15160	.;RPAC1_HUMAN	I	285;149;235;285	ENSP00000361465:R285I;ENSP00000361419:R235I;ENSP00000307212:R285I	ENSP00000307212:R285I	R	+	2	0	POLR1C	43596696	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.671000	0.98627	2.262000	0.75019	0.454000	0.30748	AGA	.		0.448	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875	
TDRD6	221400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	46657182	46657182	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:46657182G>A	ENST00000316081.6	+	1	1317	c.1317G>A	c.(1315-1317)tcG>tcA	p.S439S	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Silent_p.S439S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	439					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAGTACAGTCGTGTTGCTTGG	0.453																																					p.S439S		.											.	TDRD6-138	0			c.G1317A						.						88.0	85.0	86.0					6																	46657182		2203	4300	6503	SO:0001819	synonymous_variant	221400	exon1			ACAGTCGTGTTGC	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1317G>A	6.37:g.46657182G>A		56	0		50	21	NM_001168359	0	0	0	0	0	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	CCDS34470.1																																																																																			.		0.453	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
PLA2G7	7941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	46677128	46677128	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:46677128C>A	ENST00000274793.7	-	9	1001	c.805G>T	c.(805-807)Gta>Tta	p.V269L	PLA2G7_ENST00000537365.1_Missense_Mutation_p.V269L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	269					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGTCCAATTACTGCTATTTTT	0.308																																					p.V269L		.											.	PLA2G7-90	0			c.G805T						.						92.0	93.0	93.0					6																	46677128		2203	4294	6497	SO:0001583	missense	7941	exon9			CAATTACTGCTAT	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.805G>T	6.37:g.46677128C>A	ENSP00000274793:p.Val269Leu	53	0		80	16	NM_005084	0	0	0	0	0	A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380582	0.42207	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.59772	0.24;0.24	5.93	-8.0	0.01126	.	0.854563	0.10484	N	0.669262	T	0.15565	0.0375	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.13145	0.007;0.007	B;B	0.12837	0.008;0.008	T	0.23368	-1.0190	10	0.13108	T	0.6	.	10.3598	0.43987	0.0891:0.3208:0.0:0.5901	.	269;269	A8K2W6;Q13093	.;PAFA_HUMAN	L	269	ENSP00000274793:V269L;ENSP00000445666:V269L	ENSP00000274793:V269L	V	-	1	0	PLA2G7	46785087	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-0.563000	0.05943	-1.778000	0.01282	-0.345000	0.07892	GTA	.		0.308	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1		
ANKRD66	100287718	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	46717703	46717703	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:46717703G>C	ENST00000565422.1	+	2	145	c.140G>C	c.(139-141)aGa>aCa	p.R47T	ANKRD66_ENST00000536046.1_Missense_Mutation_p.R18T	NM_001162435.2	NP_001155907.2	B4E2M5	ANR66_HUMAN	ankyrin repeat domain 66	47																	cccctgcccagagtttcagat	0.488																																					p.R47T		.											.	.	0			c.G140C						.						72.0	65.0	67.0					6																	46717703		692	1591	2283	SO:0001583	missense	100287718	exon2			TGCCCAGAGTTTC	AK304342	CCDS59024.1	6p12.3	2013-01-11			ENSG00000230062	ENSG00000230062		"""Ankyrin repeat domain containing"""	44669	protein-coding gene	gene with protein product							Standard	NM_001162435		Approved		uc011dwf.2	B4E2M5	OTTHUMG00000014791	ENST00000565422.1:c.140G>C	6.37:g.46717703G>C	ENSP00000454770:p.Arg47Thr	57	0		77	14	NM_001162435	0	0	0	0	0		Missense_Mutation	SNP	ENST00000565422.1	37	CCDS59024.1																																																																																			.		0.488	ANKRD66-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432045.1	NM_001162435	
GPR111	222611	hgsc.bcm.edu	37	6	47649787	47649793	+	Frame_Shift_Del	DEL	GCAGATG	GCAGATG	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GCAGATG	GCAGATG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:47649787_47649793delGCAGATG	ENST00000296862.1	+	6	1492_1498	c.1492_1498delGCAGATG	c.(1492-1500)gcagatgtgfs	p.ADV498fs	GPR111_ENST00000398742.2_Frame_Shift_Del_p.ADV430fs|GPR111_ENST00000507065.1_Frame_Shift_Del_p.ADV430fs			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	498					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTTGCTGATGGCAGATGTGTGGTTCAT	0.44																																					p.430_432del		.											.	GPR111-91	0			c.1288_1294del						.																																			SO:0001589	frameshift_variant	222611	exon7			CTGATGGCAGATG	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1492_1498delGCAGATG	6.37:g.47649787_47649793delGCAGATG	ENSP00000296862:p.Ala498fs	261	0		278	0	NM_153839	0	0	0	0	0	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Frame_Shift_Del	DEL	ENST00000296862.1	37																																																																																				.		0.440	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839	
GPR111	222611	hgsc.bcm.edu	37	6	47649791	47649791	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:47649791A>G	ENST00000296862.1	+	6	1496	c.1496A>G	c.(1495-1497)gAt>gGt	p.D499G	GPR111_ENST00000398742.2_Missense_Mutation_p.D431G|GPR111_ENST00000507065.1_Missense_Mutation_p.D431G			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	499					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGATGGCAGATGTGTGGTTC	0.443																																					p.D431G		.											.	GPR111-91	0			c.A1292G						.						83.0	78.0	80.0					6																	47649791		2032	4203	6235	SO:0001583	missense	222611	exon7			TGGCAGATGTGTG	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1496A>G	6.37:g.47649791A>G	ENSP00000296862:p.Asp499Gly	269	0		278	34	NM_153839	0	0	0	0	0	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37		.	.	.	.	.	.	.	.	.	.	A	20.5	4.000425	0.74818	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.44881	0.91;0.91;0.91	5.52	5.52	0.82312	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	T	0.59348	0.2187	M	0.85462	2.755	0.46167	D	0.998906	D;D	0.65815	0.964;0.995	P;D	0.64321	0.742;0.924	T	0.68176	-0.5478	10	0.87932	D	0	.	14.8104	0.69992	1.0:0.0:0.0:0.0	.	431;499	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	G	431;499;431	ENSP00000422934:D431G;ENSP00000296862:D499G;ENSP00000381727:D431G	ENSP00000296862:D499G	D	+	2	0	GPR111	47757750	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.306000	0.96204	2.094000	0.63399	0.533000	0.62120	GAT	.		0.443	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839	
RHAG	6005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	49574560	49574560	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:49574560C>T	ENST00000371175.4	-	9	1239		c.e9+1		RHAG_ENST00000229810.7_Splice_Site	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTGTACAGTACCTTCCAATAA	0.408																																					.	Ovarian(176;476 2003 7720 43408 44749)	.											.	RHAG-154	0			c.1212+1G>A						.						113.0	103.0	106.0					6																	49574560		2203	4300	6503	SO:0001630	splice_region_variant	6005	exon10			ACAGTACCTTCCA		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.1212+1G>A	6.37:g.49574560C>T		76	0		82	33	NM_000324	0	0	0	0	0	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Splice_Site	SNP	ENST00000371175.4	37	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739286	0.89573	.	.	ENSG00000112077	ENST00000371175;ENST00000418071	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1705	0.93575	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHAG	49682519	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.302000	0.78861	2.771000	0.95319	0.650000	0.86243	.	.		0.408	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		Intron
CRISP3	10321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	49701562	49701562	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:49701562C>A	ENST00000393666.1	-	4	284		c.e4-1		CRISP3_ENST00000371159.4_Splice_Site|CRISP3_ENST00000423399.2_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000433368.2_Splice_Site			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3						defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CATTTTAGACCTAAGAAGGAA	0.413																																					.		.											.	CRISP3-92	0			c.347-1G>T						.						127.0	120.0	122.0					6																	49701562		2203	4300	6503	SO:0001630	splice_region_variant	10321	exon6			TTAGACCTAAGAA	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.278-1G>T	6.37:g.49701562C>A		124	0		151	63	NM_001190986	0	0	0	0	0	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Splice_Site	SNP	ENST00000393666.1	37		.	.	.	.	.	.	.	.	.	.	C	7.196	0.592530	0.13875	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	.	.	.	5.1	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.23669	N	0.997156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4718	0.11715	0.0:0.6125:0.1866:0.2009	.	.	.	.	.	-1	.	.	.	-	.	.	CRISP3	49809521	0.992000	0.36948	0.009000	0.14445	0.042000	0.13812	4.742000	0.62103	0.510000	0.28216	-0.237000	0.12165	.	.		0.413	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061	Intron
PGK2	5232	hgsc.bcm.edu;bcgsc.ca	37	6	49754216	49754216	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:49754216delC	ENST00000304801.3	-	1	837	c.685delG	c.(685-687)gacfs	p.D229fs		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	229					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTGACTTTGTCCAGCATATTT	0.428																																					p.D229fs		.											.	PGK2-91	0			c.685delG						.						163.0	149.0	154.0					6																	49754216		2203	4300	6503	SO:0001589	frameshift_variant	5232	exon1			CTTTGTCCAGCAT	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.685delG	6.37:g.49754216delC	ENSP00000305995:p.Asp229fs	322	2		289	86	NM_138733	0	0	0	0	0	B2R6Y8|Q9H107	Frame_Shift_Del	DEL	ENST00000304801.3	37	CCDS4930.1																																																																																			.		0.428	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
PGK2	5232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	49754711	49754711	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:49754711G>C	ENST00000304801.3	-	1	342	c.190C>G	c.(190-192)Cta>Gta	p.L64V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	64	Substrate binding. {ECO:0000250}.				glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGCCGACCTAGATGACTCATA	0.478																																					p.L64V		.											.	PGK2-91	0			c.C190G						.						201.0	168.0	179.0					6																	49754711		2203	4300	6503	SO:0001583	missense	5232	exon1			GACCTAGATGACT	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.190C>G	6.37:g.49754711G>C	ENSP00000305995:p.Leu64Val	164	0		182	61	NM_138733	0	0	0	0	0	B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336417	0.41398	.	.	ENSG00000170950	ENST00000304801	D	0.93604	-3.25	4.09	2.16	0.27623	Phosphoglycerate kinase, N-terminal (1);	0.069251	0.64402	D	0.000014	D	0.94925	0.8359	H	0.96691	3.865	0.48511	D	0.999669	P	0.37233	0.588	P	0.48524	0.58	D	0.93813	0.7112	10	0.72032	D	0.01	-9.8891	6.1017	0.20051	0.3337:0.0:0.6663:0.0	.	64	P07205	PGK2_HUMAN	V	64	ENSP00000305995:L64V	ENSP00000305995:L64V	L	-	1	2	PGK2	49862670	0.998000	0.40836	0.434000	0.26772	0.973000	0.67179	1.150000	0.31639	0.587000	0.29643	0.585000	0.79938	CTA	.		0.478	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
DEFB113	245927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	49936521	49936521	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:49936521C>A	ENST00000398718.1	-	2	117	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	40					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.G40S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					TTGCAAGCACCACGAACAAGC	0.393																																					p.G40C		.											.	DEFB113-90	1	Substitution - Missense(1)	lung(1)	c.G118T						.						110.0	106.0	107.0					6																	49936521		1882	4109	5991	SO:0001583	missense	245927	exon2			AAGCACCACGAAC	DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.118G>T	6.37:g.49936521C>A	ENSP00000381703:p.Gly40Cys	99	0		77	28	NM_001037729	0	0	0	0	0		Missense_Mutation	SNP	ENST00000398718.1	37	CCDS43472.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653976	0.29425	.	.	ENSG00000214642	ENST00000398718	T	0.63417	-0.04	4.15	4.15	0.48705	.	.	.	.	.	T	0.68155	0.2970	.	.	.	0.18873	N	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.58053	-0.7704	7	.	.	.	-19.0458	12.1414	0.54000	0.0:1.0:0.0:0.0	.	40	Q30KQ7	DB113_HUMAN	C	40	ENSP00000381703:G40C	.	G	-	1	0	DEFB113	50044480	0.569000	0.26643	0.168000	0.22838	0.017000	0.09413	2.857000	0.48349	2.324000	0.78689	0.557000	0.71058	GGT	.		0.393	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359666.1		
PKHD1	5314	ucsc.edu;bcgsc.ca	37	6	51774097	51774097	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:51774097C>A	ENST00000371117.3	-	40	6941	c.6666G>T	c.(6664-6666)ctG>ctT	p.L2222L	PKHD1_ENST00000340994.4_Silent_p.L2222L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2222					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGCTCCCACCAGAGTGAGTG	0.502																																					p.L2222L		.											.	PKHD1-603	0			c.G6666T						.						130.0	122.0	125.0					6																	51774097		2203	4300	6503	SO:0001819	synonymous_variant	5314	exon40			TCCCACCAGAGTG	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6666G>T	6.37:g.51774097C>A		161	2		160	50	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																			.		0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	51907711	51907711	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:51907711G>T	ENST00000371117.3	-	27	3318	c.3043C>A	c.(3043-3045)Cta>Ata	p.L1015I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1015I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1015	IPT/TIG 4.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCACATTTAGGAAGAGGTCT	0.498																																					p.L1015I		.											.	PKHD1-603	0			c.C3043A						.						100.0	96.0	98.0					6																	51907711		2203	4300	6503	SO:0001583	missense	5314	exon27			CATTTAGGAAGAG	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3043C>A	6.37:g.51907711G>T	ENSP00000360158:p.Leu1015Ile	120	0		111	31	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283403	0.40394	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87809	-2.1;-2.3	5.98	0.466	0.16716	Immunoglobulin-like fold (1);	0.093398	0.46145	D	0.000309	D	0.84192	0.5418	M	0.73598	2.24	0.24048	N	0.996052	D;D	0.69078	0.992;0.997	P;P	0.57548	0.817;0.823	T	0.78125	-0.2326	10	0.29301	T	0.29	.	10.4523	0.44528	0.3496:0.0:0.6504:0.0	.	1015;1015	P08F94-2;P08F94	.;PKHD1_HUMAN	I	1015	ENSP00000360158:L1015I;ENSP00000341097:L1015I	ENSP00000341097:L1015I	L	-	1	2	PKHD1	52015670	1.000000	0.71417	0.553000	0.28255	0.092000	0.18411	1.080000	0.30779	0.099000	0.17552	-0.142000	0.14014	CTA	.		0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	51907765	51907765	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:51907765T>A	ENST00000371117.3	-	27	3264	c.2989A>T	c.(2989-2991)Atg>Ttg	p.M997L	PKHD1_ENST00000340994.4_Missense_Mutation_p.M997L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	997	IPT/TIG 4.		M -> K (in ARPKD). {ECO:0000269|PubMed:12506140}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCACCAACATCAAGATCCGA	0.463																																					p.M997L		.											.	PKHD1-603	0			c.A2989T						.						120.0	114.0	116.0					6																	51907765		2203	4299	6502	SO:0001583	missense	5314	exon27			CCAACATCAAGAT	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2989A>T	6.37:g.51907765T>A	ENSP00000360158:p.Met997Leu	161	0		155	63	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	6.343	0.431415	0.12045	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.72725	-0.68;-0.68	5.98	-3.8	0.04307	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.493294	0.23487	N	0.047643	T	0.33731	0.0873	L	0.42245	1.32	0.09310	N	0.999998	B;B	0.09022	0.0;0.002	B;B	0.10450	0.003;0.005	T	0.38394	-0.9663	10	0.28530	T	0.3	.	8.5265	0.33309	0.1158:0.5102:0.0:0.3741	.	997;997	P08F94-2;P08F94	.;PKHD1_HUMAN	L	997	ENSP00000360158:M997L;ENSP00000341097:M997L	ENSP00000341097:M997L	M	-	1	0	PKHD1	52015724	0.000000	0.05858	0.005000	0.12908	0.803000	0.45373	-0.850000	0.04317	-0.664000	0.05324	0.529000	0.55759	ATG	.		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	51908447	51908447	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:51908447C>A	ENST00000371117.3	-	26	3072	c.2797G>T	c.(2797-2799)Gtc>Ttc	p.V933F	PKHD1_ENST00000340994.4_Missense_Mutation_p.V933F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	933	IPT/TIG 4.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAGAATGGACACAGGGAGTT	0.483																																					p.V933F		.											.	PKHD1-603	0			c.G2797T						.						128.0	109.0	115.0					6																	51908447		2203	4300	6503	SO:0001583	missense	5314	exon26			AATGGACACAGGG	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2797G>T	6.37:g.51908447C>A	ENSP00000360158:p.Val933Phe	106	0		110	41	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035854	0.93630	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.91740	-2.9;-2.9	6.14	3.34	0.38264	Immunoglobulin E-set (1);	0.322303	0.29861	N	0.011004	D	0.91794	0.7404	M	0.72894	2.215	0.09310	N	0.999999	D;D	0.61697	0.99;0.99	P;D	0.63381	0.905;0.914	D	0.86382	0.1730	10	0.87932	D	0	.	9.7013	0.40189	0.0:0.767:0.0:0.233	.	933;933	P08F94-2;P08F94	.;PKHD1_HUMAN	F	933	ENSP00000360158:V933F;ENSP00000341097:V933F	ENSP00000341097:V933F	V	-	1	0	PKHD1	52016406	0.487000	0.25988	0.005000	0.12908	0.970000	0.65996	0.806000	0.27126	0.438000	0.26450	0.650000	0.86243	GTC	.		0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
MCM3	4172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	52141266	52141266	+	Missense_Mutation	SNP	G	G	A	rs144158830		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:52141266G>A	ENST00000229854.7	-	9	1250	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	MCM3_ENST00000419835.2_Missense_Mutation_p.R346C|MCM3_ENST00000596288.1_Missense_Mutation_p.R437C|MCM3_ENST00000476448.1_5'UTR			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	392	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GCTTCCAGACGGCGCTCTCCT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		22026	0.0		0.001	False		,,,				2504	0.0				p.R437C		.											.	MCM3-228	0			c.C1309T						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	49.0	45.0	46.0		1174	5.0	1.0	6	dbSNP_134	46	7,8593	5.7+/-21.5	0,7,4293	yes	missense	MCM3	NM_002388.3	180	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	probably-damaging	392/809	52141266	8,12998	2203	4300	6503	SO:0001583	missense	4172	exon9			CCAGACGGCGCTC	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1174C>T	6.37:g.52141266G>A	ENSP00000229854:p.Arg392Cys	117	0		127	54	NM_002388	0	0	0	0	0	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.11	2.140426	0.37825	2.27E-4	8.14E-4	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.06371	3.31;3.31	5.04	5.04	0.67666	ATPase, AAA+ type, core (1);	0.048736	0.85682	D	0.000000	T	0.05868	0.0153	M	0.79123	2.44	0.80722	D	1	B;B	0.26602	0.148;0.154	B;B	0.33454	0.15;0.164	T	0.03630	-1.1018	10	0.72032	D	0.01	-0.6195	8.0548	0.30598	0.0799:0.0:0.7608:0.1593	.	346;392	B4DUQ9;P25205	.;MCM3_HUMAN	C	392;346	ENSP00000229854:R392C;ENSP00000388647:R346C	ENSP00000229854:R392C	R	-	1	0	MCM3	52249225	1.000000	0.71417	0.999000	0.59377	0.334000	0.28698	4.451000	0.60047	2.618000	0.88619	0.655000	0.94253	CGT	G|0.999;A|0.001		0.502	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1		
GCLC	2729	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	53409375	53409375	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:53409375C>A	ENST00000229416.6	-	1	552	c.69G>T	c.(67-69)cgG>cgT	p.R23R	GCLC_ENST00000514004.1_Silent_p.R23R	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	23					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	TCCCGTGCCGCCGCACGTGGT	0.692																																					p.R23R		.											.	GCLC-515	0			c.G69T						.						74.0	58.0	64.0					6																	53409375		2203	4300	6503	SO:0001819	synonymous_variant	2729	exon1			GTGCCGCCGCACG	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.69G>T	6.37:g.53409375C>A		47	0		114	41	NM_001197115	0	0	0	0	0	Q14399	Silent	SNP	ENST00000229416.6	37	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108908	0.37242	.	.	ENSG00000001084	ENST00000513939	.	.	.	4.71	3.78	0.43462	.	.	.	.	.	T	0.61337	0.2339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61019	-0.7147	4	.	.	.	.	14.7716	0.69684	0.0:0.7592:0.2407:0.0	.	.	.	.	V	11	.	.	G	-	2	0	GCLC	53517334	0.998000	0.40836	1.000000	0.80357	0.800000	0.45204	0.415000	0.21181	2.318000	0.78349	0.313000	0.20887	GGC	.		0.692	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2		
FAM83B	222584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	54791229	54791229	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:54791229G>T	ENST00000306858.7	+	3	621	c.505G>T	c.(505-507)Gca>Tca	p.A169S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	169										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AATCGTTGAGGCATCAACTCG	0.328																																					p.A169S		.											.	FAM83B-96	0			c.G505T						.						113.0	117.0	115.0					6																	54791229		2203	4300	6503	SO:0001583	missense	222584	exon3			GTTGAGGCATCAA	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.505G>T	6.37:g.54791229G>T	ENSP00000304078:p.Ala169Ser	64	0		66	24	NM_001010872	0	0	0	0	0	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576412	0.86645	.	.	ENSG00000168143	ENST00000306858	T	0.22945	1.93	5.31	4.41	0.53225	.	0.055756	0.64402	N	0.000001	T	0.25568	0.0622	M	0.83774	2.66	0.53005	D	0.999964	P	0.50617	0.937	B	0.43889	0.435	T	0.27262	-1.0079	10	0.66056	D	0.02	-19.1819	14.901	0.70678	0.0:0.0:0.8554:0.1446	.	169	Q5T0W9	FA83B_HUMAN	S	169	ENSP00000304078:A169S	ENSP00000304078:A169S	A	+	1	0	FAM83B	54899188	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.592000	0.82676	1.164000	0.42652	0.563000	0.77884	GCA	.		0.328	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
DST	667	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	56426291	56426291	+	Missense_Mutation	SNP	C	C	A	rs369841392		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:56426291C>A	ENST00000361203.3	-	53	13499	c.13492G>T	c.(13492-13494)Ggc>Tgc	p.G4498C	DST_ENST00000370754.5_Missense_Mutation_p.G4678C|DST_ENST00000370788.2_Missense_Mutation_p.G2412C|DST_ENST00000446842.2_Missense_Mutation_p.G4174C|DST_ENST00000244364.6_Missense_Mutation_p.G2086C|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.G2412C|DST_ENST00000370769.4_Missense_Mutation_p.G4500C			Q03001	DYST_HUMAN	dystonin	4498					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)			AGTAAGAGGCCAAGATCTTCA	0.378																																					p.G2086C		.											.	DST-523	0			c.G6256T						.						182.0	161.0	167.0					6																	56426291		1883	4102	5985	SO:0001583	missense	667	exon38			AGAGGCCAAGATC	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.13492G>T	6.37:g.56426291C>A	ENSP00000354508:p.Gly4498Cys	95	1		121	48	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	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	17.34	3.363933	0.61513	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	6.17	6.17	0.99709	.	0.000000	0.52532	D	0.000065	T	0.57169	0.2035	M	0.72894	2.215	0.29271	N	0.870698	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;0.978	T	0.53173	-0.8476	9	0.54805	T	0.06	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2412;4500;4678;4498;2086	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	C	2086;4678;4500;2412;4174;2412;4498	ENSP00000244364:G2086C;ENSP00000359790:G4678C;ENSP00000359805:G4500C;ENSP00000400883:G2412C;ENSP00000393645:G4174C;ENSP00000359824:G2412C;ENSP00000354508:G4498C	ENSP00000244364:G2086C	G	-	1	0	DST	56534250	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.707000	0.74654	2.941000	0.99782	0.655000	0.94253	GGC	.		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	56468904	56468904	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:56468904C>A	ENST00000361203.3	-	36	9896	c.9889G>T	c.(9889-9891)Gtt>Ttt	p.V3297F	DST_ENST00000370754.5_Missense_Mutation_p.V3475F|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.V2971F|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.V3297F|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.V3297F			Q03001	DYST_HUMAN	dystonin	3297					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)			AAGTCTCCAACATGTTCTATT	0.348																																					.		.											.	.	0			.						.						46.0	42.0	43.0					6																	56468904		1836	4076	5912	SO:0001583	missense	100873774	.			CTCCAACATGTTC	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.9889G>T	6.37:g.56468904C>A	ENSP00000354508:p.Val3297Phe	88	0		73	25	.	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	RNA	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	6.321	0.427409	0.11987	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.82803	-0.16;-0.16;0.79;-1.65;-0.19;-0.51	5.62	-5.69	0.02428	.	1.652020	0.03933	N	0.285581	T	0.47948	0.1473	.	.	.	0.21473	N	0.999672	B	0.09022	0.002	B	0.08055	0.003	T	0.35574	-0.9783	8	0.59425	D	0.04	.	1.2118	0.01906	0.258:0.1731:0.3391:0.2298	.	2971	Q03001-9	.	F	3475;3297;2971;3297;3297;2971	ENSP00000359790:V3475F;ENSP00000359805:V3297F;ENSP00000393645:V2971F;ENSP00000307959:V3297F;ENSP00000354508:V3297F;ENSP00000404924:V2971F	ENSP00000307959:V3297F	V	-	1	0	DST	56576863	0.000000	0.05858	0.000000	0.03702	0.343000	0.28985	-1.918000	0.01574	-1.235000	0.02545	0.561000	0.74099	GTT	.		0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	56480710	56480710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:56480710G>A	ENST00000370765.6	-	24	7662	c.7555C>T	c.(7555-7557)Cag>Tag	p.Q2519*	DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1815					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)			AATTCACACTGTCGCAGCTGC	0.463																																					p.Q2519X		.											.	DST-523	0			c.C7555T						.						82.0	84.0	83.0					6																	56480710		2203	4300	6503	SO:0001587	stop_gained	667	exon24			CACACTGTCGCAG	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	ENST00000370765.6:c.7555C>T	6.37:g.56480710G>A	ENSP00000359801:p.Gln2519*	138	1		153	51	NM_001723	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	Nonsense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	47	13.782939	0.99763	.	.	ENSG00000151914	ENST00000370765	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	X	2519	.	ENSP00000359801:Q2519X	Q	-	1	0	DST	56588669	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.490000	0.97952	2.822000	0.97130	0.557000	0.71058	CAG	.		0.463	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	56495106	56495106	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:56495106C>A	ENST00000361203.3	-	27	3592	c.3585G>T	c.(3583-3585)ctG>ctT	p.L1195L	DST_ENST00000370765.6_Silent_p.L869L|DST_ENST00000370754.5_Silent_p.L1373L|DST_ENST00000370788.2_Silent_p.L1195L|DST_ENST00000518935.1_Silent_p.L869L|DST_ENST00000446842.2_Silent_p.L869L|DST_ENST00000244364.6_Silent_p.L869L|DST_ENST00000312431.6_Silent_p.L1195L|DST_ENST00000421834.2_Silent_p.L1195L|DST_ENST00000370769.4_Silent_p.L1195L			Q03001	DYST_HUMAN	dystonin	1195					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)			CTTCTTCACACAGTTTAGTTT	0.308																																					p.L869L		.											.	DST-523	0			c.G2607T						.						86.0	86.0	86.0					6																	56495106		2202	4298	6500	SO:0001819	synonymous_variant	667	exon17			TTCACACAGTTTA	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.3585G>T	6.37:g.56495106C>A		85	0		59	10	NM_001723	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																																																																																				.		0.308	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
ZNF451	26036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	56965611	56965611	+	Intron	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:56965611G>T	ENST00000370706.4	+	3	430				ZNF451_ENST00000357489.3_Intron|ZNF451_ENST00000370708.4_Nonsense_Mutation_p.E133*|ZNF451_ENST00000370702.1_Intron|ZNF451_ENST00000491832.2_Intron	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TAAGATCTCTGAGACAGAGAC	0.413																																					p.E133X		.											.	ZNF451-93	0			c.G397T						.																																			SO:0001627	intron_variant	26036	exon4			ATCTCTGAGACAG	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.186+1672G>T	6.37:g.56965611G>T		61	0		61	18	NM_001257273	0	0	0	0	0	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Nonsense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808561	0.31961	.	.	ENSG00000112200	ENST00000370708;ENST00000508603	.	.	.	5.14	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.8724	0.35325	0.0983:0.0:0.9017:0.0	.	.	.	.	X	133;105	.	ENSP00000359742:E133X	E	+	1	0	ZNF451	57073570	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.621000	0.46418	2.823000	0.97156	0.591000	0.81541	GAG	.		0.413	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
KHDRBS2	202559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	62407105	62407105	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:62407105C>A	ENST00000281156.4	-	8	1225	c.947G>T	c.(946-948)aGc>aTc	p.S316I		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTTACCGTAGCTGTCATAGGC	0.383																																					p.S316I		.											.	KHDRBS2-272	0			c.G947T						.						127.0	104.0	112.0					6																	62407105		2203	4300	6503	SO:0001583	missense	202559	exon8			CCGTAGCTGTCAT	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.947G>T	6.37:g.62407105C>A	ENSP00000281156:p.Ser316Ile	80	0		114	32	NM_152688	0	0	0	0	0	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952448	0.73787	.	.	ENSG00000112232	ENST00000281156	T	0.53206	0.63	5.37	4.36	0.52297	.	0.333726	0.36854	N	0.002376	T	0.45296	0.1335	L	0.59436	1.845	0.38468	D	0.947388	D	0.56968	0.978	P	0.56216	0.794	T	0.52866	-0.8518	10	0.87932	D	0	-2.9369	10.4167	0.44327	0.0:0.888:0.0:0.112	.	316	Q5VWX1	KHDR2_HUMAN	I	316	ENSP00000281156:S316I	ENSP00000281156:S316I	S	-	2	0	KHDRBS2	62465064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.782000	0.47758	1.145000	0.42336	0.650000	0.86243	AGC	.		0.383	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
EYS	346007	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	65300987	65300987	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:65300987C>A	ENST00000370621.3	-	26	5299	c.4773G>T	c.(4771-4773)gcG>gcT	p.A1591A	EYS_ENST00000370616.2_Silent_p.A1591A|EYS_ENST00000503581.1_Silent_p.A1591A			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1591					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGGCTAATATCGCTGAGTTCA	0.403																																					p.A1591A		.											.	EYS-660	0			c.G4773T						.						25.0	22.0	23.0					6																	65300987		692	1590	2282	SO:0001819	synonymous_variant	346007	exon26			TAATATCGCTGAG		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4773G>T	6.37:g.65300987C>A		99	1		91	27	NM_001142800	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37																																																																																				.		0.403	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	65655797	65655797	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:65655797C>G	ENST00000370621.3	-	15	2796	c.2270G>C	c.(2269-2271)tGt>tCt	p.C757S	EYS_ENST00000370616.2_Missense_Mutation_p.C757S|EYS_ENST00000503581.1_Missense_Mutation_p.C757S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	757	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAGGCACACACACTGGTAGCT	0.338																																					p.C757S		.											.	EYS-660	0			c.G2270C						.						164.0	134.0	143.0					6																	65655797		692	1591	2283	SO:0001583	missense	346007	exon15			CACACACACTGGT		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2270G>C	6.37:g.65655797C>G	ENSP00000359655:p.Cys757Ser	50	0		52	16	NM_001142800	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	C	7.835	0.720758	0.15372	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.96232	-3.95;-2.63;-2.63	4.7	2.88	0.33553	.	.	.	.	.	D	0.98102	0.9374	H	0.98199	4.17	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.97011	0.9736	9	0.87932	D	0	.	6.9521	0.24550	0.1717:0.736:0.0:0.0923	.	757	Q5T1H1-1	.	S	757	ENSP00000424243:C757S;ENSP00000359655:C757S;ENSP00000359650:C757S	ENSP00000359650:C757S	C	-	2	0	EYS	65712518	0.850000	0.29656	0.054000	0.19295	0.155000	0.21991	1.307000	0.33516	0.387000	0.25024	0.561000	0.74099	TGT	.		0.338	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
EYS	346007	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	66053984	66053984	+	Missense_Mutation	SNP	C	C	G	rs577044383		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:66053984C>G	ENST00000370621.3	-	10	2072	c.1546G>C	c.(1546-1548)Gat>Cat	p.D516H	EYS_ENST00000370618.3_Missense_Mutation_p.D516H|EYS_ENST00000342421.5_Missense_Mutation_p.D516H|EYS_ENST00000370616.2_Missense_Mutation_p.D516H|EYS_ENST00000393380.2_Missense_Mutation_p.D516H|EYS_ENST00000503581.1_Missense_Mutation_p.D516H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	516					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTTCAGGATCGTTCACATAG	0.373																																					p.D516H		.											.	EYS-660	0			c.G1546C						.						97.0	97.0	97.0					6																	66053984		2203	4300	6503	SO:0001583	missense	346007	exon10			CAGGATCGTTCAC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1546G>C	6.37:g.66053984C>G	ENSP00000359655:p.Asp516His	185	1		185	64	NM_001142801	0	0	0	0	0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	c	4.554	0.102919	0.08731	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	3.85	1.42	0.22433	.	.	.	.	.	T	0.45696	0.1355	L	0.27053	0.805	0.09310	N	1	B;B;B	0.26002	0.139;0.139;0.086	B;B;B	0.26770	0.073;0.073;0.054	T	0.33904	-0.9850	9	0.13470	T	0.59	.	3.984	0.09507	0.0:0.1249:0.2398:0.6353	.	516;516;516	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	H	516	ENSP00000424243:D516H;ENSP00000359655:D516H;ENSP00000359650:D516H;ENSP00000377042:D516H;ENSP00000341818:D516H;ENSP00000359652:D516H	ENSP00000341818:D516H	D	-	1	0	EYS	66110705	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.241000	0.18065	0.003000	0.14656	-0.312000	0.09012	GAT	.		0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
BAI3	577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	69943298	69943298	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:69943298C>A	ENST00000370598.1	+	18	3418	c.2597C>A	c.(2596-2598)cCt>cAt	p.P866H	BAI3_ENST00000238918.8_Missense_Mutation_p.P72H	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	866	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCTCAGCAACCTAGAGAAATA	0.448																																					p.P866H		.											.	BAI3-1148	0			c.C2597A						.						145.0	132.0	136.0					6																	69943298		2203	4300	6503	SO:0001583	missense	577	exon18			AGCAACCTAGAGA	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2597C>A	6.37:g.69943298C>A	ENSP00000359630:p.Pro866His	199	0		158	49	NM_001704	0	0	0	0	0	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538714	0.65085	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.22336	1.96;2.57	5.37	5.37	0.77165	GPS domain (2);	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.60957	1.885	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68192	0.936;0.956	T	0.02417	-1.1162	10	0.44086	T	0.13	.	19.1872	0.93648	0.0:1.0:0.0:0.0	.	72;866	B7Z356;O60242	.;BAI3_HUMAN	H	866;72	ENSP00000359630:P866H;ENSP00000238918:P72H	ENSP00000238918:P72H	P	+	2	0	BAI3	70000019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.755000	0.85180	2.539000	0.85634	0.454000	0.30748	CCT	.		0.448	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
COL19A1	1310	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	70639346	70639346	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:70639346G>T	ENST00000322773.4	+	6	522	c.420G>T	c.(418-420)aaG>aaT	p.K140N		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	140	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGGAAAGAAGGTGGTGGAAT	0.333																																					p.K140N		.											.	COL19A1-156	0			c.G420T						.						87.0	87.0	87.0					6																	70639346		2203	4300	6503	SO:0001583	missense	1310	exon6			AAAGAAGGTGGTG		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.420G>T	6.37:g.70639346G>T	ENSP00000316030:p.Lys140Asn	119	1		116	45	NM_001858	0	0	0	0	0	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483336	0.26598	.	.	ENSG00000082293	ENST00000322773	T	0.24538	1.85	5.2	3.42	0.39159	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36690	0.0976	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.30387	-0.9980	10	0.87932	D	0	.	9.0231	0.36213	0.2262:0.0:0.7738:0.0	.	140	Q14993	COJA1_HUMAN	N	140	ENSP00000316030:K140N	ENSP00000316030:K140N	K	+	3	2	COL19A1	70696067	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.729000	0.26028	0.586000	0.29626	0.467000	0.42956	AAG	.		0.333	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
COL9A1	1297	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	70981789	70981789	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:70981789G>T	ENST00000357250.6	-	13	1226	c.1068C>A	c.(1066-1068)ggC>ggA	p.G356G	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Silent_p.G113G|COL9A1_ENST00000370499.4_Intron	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	356	Collagen-like 2.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GAATACCACGGCCCTAAAAGA	0.328																																					p.G356G		.											.	COL9A1-94	0			c.C1068A						.						44.0	47.0	46.0					6																	70981789		2202	4300	6502	SO:0001819	synonymous_variant	1297	exon13			ACCACGGCCCTAA		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1068C>A	6.37:g.70981789G>T		169	2		160	40	NM_001851	0	0	0	0	0	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	CCDS4971.1																																																																																			.		0.328	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
B3GAT2	135152	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	71665781	71665781	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:71665781C>A	ENST00000230053.6	-	1	960	c.352G>T	c.(352-354)Gac>Tac	p.D118Y		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	118					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCGCCGCGTCCTCCACCAGG	0.731																																					p.D118Y		.											.	B3GAT2-93	0			c.G352T						.						15.0	16.0	16.0					6																	71665781		2193	4288	6481	SO:0001583	missense	135152	exon1			CCGCGTCCTCCAC	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.352G>T	6.37:g.71665781C>A	ENSP00000230053:p.Asp118Tyr	16	0		99	34	NM_080742	0	0	0	0	0	Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713216	0.68730	.	.	ENSG00000112309	ENST00000230053	T	0.69306	-0.39	4.37	2.53	0.30540	.	0.100743	0.64402	D	0.000002	T	0.81578	0.4852	M	0.93328	3.405	0.80722	D	1	P;D	0.89917	0.594;1.0	B;D	0.97110	0.259;1.0	D	0.86068	0.1536	10	0.72032	D	0.01	-30.0278	13.8264	0.63352	0.0:0.7066:0.2934:0.0	.	118;118	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	Y	118	ENSP00000230053:D118Y	ENSP00000230053:D118Y	D	-	1	0	B3GAT2	71722502	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.477000	0.81069	0.443000	0.26582	-0.182000	0.12963	GAC	.		0.731	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742	
KCNQ5	56479	hgsc.bcm.edu	37	6	73332040	73332040	+	Silent	SNP	C	C	G	rs3734212	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:73332040C>G	ENST00000370398.1	+	1	232	c.123C>G	c.(121-123)tcC>tcG	p.S41S	KCNQ5_ENST00000403813.2_Silent_p.S41S|KCNQ5_ENST00000370392.1_Silent_p.S41S|KCNQ5_ENST00000414165.2_Silent_p.S41S|KCNQ5_ENST00000402622.2_Silent_p.S41S|KCNQ5_ENST00000355194.4_Silent_p.S41S|KCNQ5_ENST00000342056.2_Silent_p.S41S|KCNQ5_ENST00000355635.3_Silent_p.S41S	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	41					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ATGTGGAGTCCGGCCGGGGCA	0.791													G|||	2294	0.458067	0.2625	0.4337	5008	,	,		8962	0.4524		0.7097	False		,,,				2504	0.4867				p.S41S	GBM(142;1375 1859 14391 23261 44706)	.											.	KCNQ5-158	0			c.C123G						.	G	,,,,	1342,1750		314,714,518	2.0	3.0	3.0		123,123,123,123,123	-2.2	1.0	6	dbSNP_107	3	4892,1744		1918,1056,344	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	,,,,	2232,1770,862	GG,GC,CC		26.2809,43.4023,35.9169	,,,,	41/924,41/943,41/952,41/823,41/933	73332040	6234,3494	1546	3318	4864	SO:0001819	synonymous_variant	56479	exon1			GGAGTCCGGCCGG	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.123C>G	6.37:g.73332040C>G		0	0		8	8	NM_001160132	0	0	0	0	0	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	CCDS4976.1																																																																																			C|0.505;G|0.495		0.791	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
KHDC3L	154288	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	74072990	74072990	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:74072990G>T	ENST00000370367.3	+	2	395	c.342G>T	c.(340-342)caG>caT	p.Q114H		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	114							RNA binding (GO:0003723)										GCCAGCTCCAGGCGAAAGGTA	0.587																																					p.Q114H		.											.	.	0			c.G342T						.						67.0	67.0	67.0					6																	74072990		2203	4300	6503	SO:0001583	missense	154288	exon2			GCTCCAGGCGAAA	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.342G>T	6.37:g.74072990G>T	ENSP00000359392:p.Gln114His	106	1		180	63	NM_001017361	0	0	0	0	0	B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960713	0.34565	.	.	ENSG00000203908	ENST00000370367	T	0.47528	0.84	3.42	0.409	0.16382	.	1.276940	0.05769	N	0.606398	T	0.27169	0.0666	L	0.34521	1.04	0.09310	N	1	D	0.55605	0.972	P	0.52217	0.693	T	0.14476	-1.0471	10	0.41790	T	0.15	-3.8907	6.4978	0.22152	0.0:0.3856:0.4166:0.1978	.	114	Q587J8	ECAT1_HUMAN	H	114	ENSP00000359392:Q114H	ENSP00000359392:Q114H	Q	+	3	2	C6orf221	74129711	0.077000	0.21312	0.000000	0.03702	0.001000	0.01503	0.574000	0.23714	0.071000	0.16664	-0.182000	0.12963	CAG	.		0.587	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361	
COL12A1	1303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	75814965	75814965	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:75814965C>A	ENST00000322507.8	-	54	8531	c.8222G>T	c.(8221-8223)tGt>tTt	p.C2741F	COL12A1_ENST00000345356.6_Missense_Mutation_p.C1577F|COL12A1_ENST00000416123.2_Missense_Mutation_p.C2665F|COL12A1_ENST00000483888.2_Missense_Mutation_p.C2741F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2741	Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTCCTGTGTACATGTGCAAGA	0.383																																					p.C2741F		.											.	COL12A1-142	0			c.G8222T						.						64.0	80.0	75.0					6																	75814965		1869	4117	5986	SO:0001583	missense	1303	exon54			TGTGTACATGTGC	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8222G>T	6.37:g.75814965C>A	ENSP00000325146:p.Cys2741Phe	211	0		176	60	NM_004370	0	0	0	0	0	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481731	0.63849	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96734	0.8934	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96855	0.9628	10	0.87932	D	0	.	19.6611	0.95871	0.0:1.0:0.0:0.0	.	1577;2741	Q99715-2;Q99715	.;COCA1_HUMAN	F	2741;379;2665;1577;2665;2741	ENSP00000325146:C2741F;ENSP00000399812:C379F;ENSP00000305147:C1577F;ENSP00000412864:C2665F;ENSP00000421216:C2741F	ENSP00000325146:C2741F	C	-	2	0	COL12A1	75871685	1.000000	0.71417	0.569000	0.28460	0.428000	0.31595	7.152000	0.77419	2.643000	0.89663	0.655000	0.94253	TGT	.		0.383	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
TTK	7272	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	80744821	80744821	+	Silent	SNP	A	A	G	rs376304038		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:80744821A>G	ENST00000369798.2	+	15	1845	c.1734A>G	c.(1732-1734)ctA>ctG	p.L578L	TTK_ENST00000509894.1_Silent_p.L577L|TTK_ENST00000230510.3_Silent_p.L577L	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	578	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATAAACTACAACAACACA	0.269																																					p.L578L		.											.	TTK-1299	0			c.A1734G						.	A	,	0,4398		0,0,2199	78.0	83.0	81.0		1731,1734	1.7	1.0	6		81	1,8573	1.2+/-3.3	0,1,4286	no	coding-synonymous,coding-synonymous	TTK	NM_001166691.1,NM_003318.4	,	0,1,6485	GG,GA,AA		0.0117,0.0,0.0077	,	577/857,578/858	80744821	1,12971	2199	4287	6486	SO:0001819	synonymous_variant	7272	exon15			TAAACTACAACAA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1734A>G	6.37:g.80744821A>G		207	1		172	73	NM_003318	0	0	0	0	0	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Silent	SNP	ENST00000369798.2	37	CCDS4993.1																																																																																			.		0.269	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		
SNAP91	9892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	84290239	84290239	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:84290239G>T	ENST00000439399.2	-	24	2545	c.2229C>A	c.(2227-2229)ccC>ccA	p.P743P	SNAP91_ENST00000521485.1_Silent_p.P738P|SNAP91_ENST00000521743.1_Silent_p.P743P|SNAP91_ENST00000520302.1_Silent_p.P713P|SNAP91_ENST00000520213.1_Silent_p.P436P|SNAP91_ENST00000369694.2_Silent_p.P743P|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000428679.2_Silent_p.P743P|SNAP91_ENST00000195649.6_Silent_p.P738P|SNAP91_ENST00000437520.1_Silent_p.P436P	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	743					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TTGCAGGACTGGGTGGTACCA	0.458																																					p.P743P		.											.	SNAP91-23	0			c.C2229A						.						98.0	103.0	102.0					6																	84290239		1986	4160	6146	SO:0001819	synonymous_variant	9892	exon23			AGGACTGGGTGGT	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2229C>A	6.37:g.84290239G>T		262	0		240	97	NM_001242792	0	0	0	0	0	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	CCDS47455.1																																																																																			.		0.458	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
TBX18	9096	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	85446831	85446831	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:85446831C>A	ENST00000369663.5	-	8	1733	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	466					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GACATGTTCACGGAGGTGCTG	0.577																																					p.V466L		.											.	TBX18-73	0			c.G1396T						.						109.0	104.0	106.0					6																	85446831		2203	4300	6503	SO:0001583	missense	9096	exon8			TGTTCACGGAGGT	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1396G>T	6.37:g.85446831C>A	ENSP00000358677:p.Val466Leu	158	1		161	58	NM_001080508	0	0	0	0	0	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	0.640	-0.813912	0.02798	.	.	ENSG00000112837	ENST00000369663	D	0.86030	-2.06	5.48	3.7	0.42460	.	0.388123	0.28865	N	0.013891	T	0.53367	0.1792	N	0.14661	0.345	0.35733	D	0.818057	B	0.26602	0.154	B	0.24541	0.054	T	0.40040	-0.9584	10	0.19590	T	0.45	.	9.0739	0.36508	0.0:0.7771:0.0:0.2229	.	466	O95935	TBX18_HUMAN	L	466	ENSP00000358677:V466L	ENSP00000358677:V466L	V	-	1	0	TBX18	85503550	0.980000	0.34600	0.934000	0.37439	0.665000	0.39181	2.456000	0.44997	0.688000	0.31529	0.585000	0.79938	GTG	.		0.577	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508	
HTR1E	3354	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	87725124	87725124	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:87725124C>G	ENST00000305344.5	+	2	775	c.72C>G	c.(70-72)ctC>ctG	p.L24L		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	24					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGAAGATGCTCATTTGCATGA	0.502																																					p.L24L		.											.	HTR1E-93	0			c.C72G						.						156.0	126.0	136.0					6																	87725124		2203	4300	6503	SO:0001819	synonymous_variant	3354	exon2			GATGCTCATTTGC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.72C>G	6.37:g.87725124C>G		300	0		339	132	NM_000865	0	0	0	0	0	E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	CCDS5006.1																																																																																			.		0.502	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865	
RARS2	57038	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	88279286	88279286	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:88279286G>A	ENST00000369536.5	-	2	104	c.59C>T	c.(58-60)cCa>cTa	p.P20L		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	20					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GTTTTCTGGTGGAAGATTCAA	0.313																																					p.P20L		.											.	RARS2-92	0			c.C59T						.						110.0	113.0	112.0					6																	88279286		2203	4300	6503	SO:0001583	missense	57038	exon2			TCTGGTGGAAGAT	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.59C>T	6.37:g.88279286G>A	ENSP00000358549:p.Pro20Leu	92	1		79	11	NM_020320	0	0	0	0	0	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103933	0.56291	.	.	ENSG00000146282	ENST00000369536;ENST00000451155	T	0.72835	-0.69	5.11	5.11	0.69529	Arginyl tRNA synthetase, class Ia, N-terminal (2);	0.218457	0.48767	D	0.000169	T	0.53351	0.1791	M	0.66939	2.045	0.58432	D	0.999991	B	0.31910	0.346	B	0.30251	0.113	T	0.54840	-0.8233	10	0.16420	T	0.52	.	14.3856	0.66942	0.0:0.0:1.0:0.0	.	20	Q5T160	SYRM_HUMAN	L	20;8	ENSP00000358549:P20L	ENSP00000358549:P20L	P	-	2	0	RARS2	88336005	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.296000	0.65698	2.539000	0.85634	0.650000	0.86243	CCA	.		0.313	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320	
SRSF12	135295	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	89827555	89827555	+	Missense_Mutation	SNP	C	C	A	rs372794091		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:89827555C>A	ENST00000452027.2	-	1	245	c.52G>T	c.(52-54)Gcg>Tcg	p.A18S		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	18	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						GTGGCGTCCGCGACGTTCCTG	0.736																																					p.A18S		.											.	SRSF12-90	0			c.G52T						.						17.0	24.0	22.0					6																	89827555		1973	4137	6110	SO:0001583	missense	135295	exon1			CGTCCGCGACGTT	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.52G>T	6.37:g.89827555C>A	ENSP00000414302:p.Ala18Ser	49	0		177	69	NM_080743	0	0	0	0	0	B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989492	0.35131	.	.	ENSG00000154548	ENST00000452027	T	0.32753	1.44	3.71	2.81	0.32909	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.381564	0.17208	U	0.182876	T	0.03695	0.0105	N	0.04162	-0.26	0.27850	N	0.940779	B	0.11235	0.004	B	0.19391	0.025	T	0.42120	-0.9470	10	0.06757	T	0.87	.	8.7122	0.34391	0.0:0.8844:0.0:0.1156	.	18	Q8WXF0	SRS12_HUMAN	S	18	ENSP00000414302:A18S	ENSP00000414302:A18S	A	-	1	0	SRSF12	89884274	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	1.363000	0.34159	1.866000	0.54105	0.484000	0.47621	GCG	.		0.736	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743	
BACH2	60468	ucsc.edu;bcgsc.ca	37	6	90660573	90660573	+	Missense_Mutation	SNP	C	C	G	rs34335140	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:90660573C>G	ENST00000257749.4	-	7	1959	c.1252G>C	c.(1252-1254)Gct>Cct	p.A418P	BACH2_ENST00000537989.1_Missense_Mutation_p.A418P|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.A418P|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	418			A -> T (in dbSNP:rs34335140).			cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TTACAGAGAGCCTCCAACCCA	0.592																																					p.A418P		.											.	BACH2-231	0			c.G1252C						.						27.0	29.0	28.0					6																	90660573		2183	4275	6458	SO:0001583	missense	60468	exon7			AGAGAGCCTCCAA	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1252G>C	6.37:g.90660573C>G	ENSP00000257749:p.Ala418Pro	112	2		94	28	NM_021813	0	0	0	0	0	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	8.174	0.792353	0.16258	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.38401	1.14;1.14;1.14	5.56	1.12	0.20585	.	0.473071	0.25484	N	0.030354	T	0.05456	0.0144	N	0.08118	0	0.21878	N	0.999492	B	0.27068	0.167	B	0.25759	0.063	T	0.34625	-0.9821	10	0.31617	T	0.26	-12.345	6.1461	0.20287	0.0:0.458:0.2498:0.2922	.	418	Q9BYV9	BACH2_HUMAN	P	418	ENSP00000257749:A418P;ENSP00000437473:A418P;ENSP00000345642:A418P	ENSP00000257749:A418P	A	-	1	0	BACH2	90717294	1.000000	0.71417	0.994000	0.49952	0.599000	0.36880	1.928000	0.40104	0.278000	0.22164	-0.136000	0.14681	GCT	C|0.993;T|0.007		0.592	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813	
MAP3K7	6885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	91233443	91233443	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:91233443T>A	ENST00000369329.3	-	14	1577	c.1416A>T	c.(1414-1416)tcA>tcT	p.S472S	MAP3K7_ENST00000369327.3_Silent_p.S445S|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369332.3_Silent_p.S445S|MAP3K7_ENST00000369320.1_Silent_p.S126S|MAP3K7_ENST00000369325.3_Silent_p.S472S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	472					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTGGCTTTTCTGAGGTTGGTC	0.423																																					p.S472S		.											.	MAP3K7-980	0			c.A1416T						.						169.0	146.0	154.0					6																	91233443		2203	4300	6503	SO:0001819	synonymous_variant	6885	exon14			CTTTTCTGAGGTT	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1416A>T	6.37:g.91233443T>A		151	0		150	69	NM_145331	0	0	0	0	0	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	ENST00000369329.3	37	CCDS5028.1																																																																																			.		0.423	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	
UFL1	23376	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	96999750	96999750	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:96999750G>T	ENST00000369278.4	+	17	2002	c.1936G>T	c.(1936-1938)Gca>Tca	p.A646S		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	646					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										GGATTCTGCAGCAGAAGCTTG	0.318																																					p.A646S		.											.	.	0			c.G1936T						.						92.0	103.0	100.0					6																	96999750		2203	4298	6501	SO:0001583	missense	23376	exon17			TCTGCAGCAGAAG	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1936G>T	6.37:g.96999750G>T	ENSP00000358283:p.Ala646Ser	217	1		196	57	NM_015323	0	0	0	0	0	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296841	0.40594	.	.	ENSG00000014123	ENST00000369278	T	0.52983	0.64	5.08	1.23	0.21249	.	0.325877	0.35772	N	0.002993	T	0.24275	0.0588	M	0.72118	2.19	0.38864	D	0.95655	B	0.27853	0.191	B	0.26770	0.073	T	0.05683	-1.0870	10	0.25106	T	0.35	-1.1067	8.8952	0.35460	0.314:0.0:0.686:0.0	.	646	O94874	UFL1_HUMAN	S	646	ENSP00000358283:A646S	ENSP00000358283:A646S	A	+	1	0	KIAA0776	97106471	0.998000	0.40836	0.996000	0.52242	0.996000	0.88848	1.000000	0.29770	0.003000	0.14656	0.655000	0.94253	GCA	.		0.318	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323	
MMS22L	253714	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	97599708	97599708	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:97599708C>T	ENST00000275053.4	-	23	3686	c.3421G>A	c.(3421-3423)Gta>Ata	p.V1141I	MMS22L_ENST00000369251.2_Missense_Mutation_p.V1101I	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1141					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGGCTTTTACCATGTATTGC	0.438																																					p.V1141I		.											.	MMS22L-92	0			c.G3421A						.						177.0	176.0	176.0					6																	97599708		2203	4300	6503	SO:0001583	missense	253714	exon23			CTTTTACCATGTA		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3421G>A	6.37:g.97599708C>T	ENSP00000275053:p.Val1141Ile	77	1		82	20	NM_198468	0	0	0	0	0	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736759	0.49045	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.38240	1.15;1.15	5.44	4.57	0.56435	.	0.190068	0.45361	D	0.000366	T	0.18045	0.0433	L	0.50333	1.59	0.38045	D	0.935582	B;B	0.20671	0.047;0.027	B;B	0.20767	0.031;0.017	T	0.07214	-1.0784	10	0.62326	D	0.03	-6.2833	9.7157	0.40274	0.0:0.7843:0.1422:0.0735	.	1101;1141	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	I	1141;1101	ENSP00000275053:V1141I;ENSP00000358254:V1101I	ENSP00000275053:V1141I	V	-	1	0	MMS22L	97706429	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	1.268000	0.33062	1.281000	0.44480	0.650000	0.86243	GTA	.		0.438	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	
POU3F2	5454	hgsc.bcm.edu	37	6	99283376	99283376	+	Silent	SNP	T	T	G	rs195860	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4.0	4.0	4.0		627	3.1	1.0	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		0	0		7	7	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2		
PRDM13	59336	broad.mit.edu;bcgsc.ca	37	6	100062487	100062487	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:100062487T>A	ENST00000369215.4	+	4	2281	c.1976T>A	c.(1975-1977)cTc>cAc	p.L659H		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	659					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CAGAGTCTGCTCGCCAAAGCG	0.677																																					p.L659H		.											.	PRDM13-135	0			c.T1976A						.						11.0	14.0	13.0					6																	100062487		1873	4011	5884	SO:0001583	missense	59336	exon4			GTCTGCTCGCCAA	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1976T>A	6.37:g.100062487T>A	ENSP00000358217:p.Leu659His	50	1		184	77	NM_021620	0	0	0	0	0	Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407222	0.25378	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.06528	3.29;3.3	5.53	-0.211	0.13172	.	0.659654	0.12521	N	0.461672	T	0.00666	0.0022	N	0.05259	-0.085	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.47235	-0.9133	10	0.15499	T	0.54	-11.4958	2.2855	0.04125	0.2397:0.0701:0.2221:0.468	.	659	Q9H4Q3	PRD13_HUMAN	H	659;669	ENSP00000358217:L659H;ENSP00000358216:L669H	ENSP00000358216:L669H	L	+	2	0	PRDM13	100169208	0.880000	0.30214	0.441000	0.26858	0.968000	0.65278	0.727000	0.25999	0.347000	0.23924	0.379000	0.24179	CTC	.		0.677	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2		
MCHR2	84539	bcgsc.ca;mdanderson.org	37	6	100382334	100382334	+	Missense_Mutation	SNP	C	C	A	rs181709988		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:100382334C>A	ENST00000281806.2	-	5	961	c.647G>T	c.(646-648)tGc>tTc	p.C216F	MCHR2_ENST00000369212.2_Missense_Mutation_p.C216F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TAAAATATAGCACACCAAAAT	0.323																																					p.C216F		.											.	MCHR2-525	0			c.G647T						.						103.0	105.0	104.0					6																	100382334		2203	4298	6501	SO:0001583	missense	84539	exon5			ATATAGCACACCA	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.647G>T	6.37:g.100382334C>A	ENSP00000281806:p.Cys216Phe	40	1		31	13	NM_001040179	0	0	0	0	0	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518988	0.64634	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.39592	1.07;1.07;1.07	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.47021	0.1423	L	0.55213	1.73	0.45087	D	0.998107	D	0.54601	0.967	P	0.58391	0.838	T	0.38329	-0.9666	10	0.42905	T	0.14	.	17.1083	0.86669	0.0:1.0:0.0:0.0	.	216	Q969V1	MCHR2_HUMAN	F	216	ENSP00000403490:C216F;ENSP00000281806:C216F;ENSP00000358214:C216F	ENSP00000281806:C216F	C	-	2	0	MCHR2	100489055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.885000	0.28227	2.384000	0.81235	0.655000	0.94253	TGC	C|1.000;G|0.000		0.323	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503	
GRIK2	2898	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	102124584	102124584	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:102124584G>C	ENST00000421544.1	+	4	1118	c.628G>C	c.(628-630)Gat>Cat	p.D210H	GRIK2_ENST00000358361.3_Missense_Mutation_p.D210H|GRIK2_ENST00000369137.3_Missense_Mutation_p.D210H|GRIK2_ENST00000369134.4_Missense_Mutation_p.D161H|GRIK2_ENST00000413795.1_Missense_Mutation_p.D210H|GRIK2_ENST00000369138.1_Missense_Mutation_p.D210H|GRIK2_ENST00000318991.6_Missense_Mutation_p.D210H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	210					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGATACAAAGGATGCAAAACC	0.368																																					p.D210H		.											.	GRIK2-157	0			c.G628C						.						73.0	74.0	74.0					6																	102124584		2203	4300	6503	SO:0001583	missense	2898	exon4			ACAAAGGATGCAA		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.628G>C	6.37:g.102124584G>C	ENSP00000397026:p.Asp210His	196	0		195	74	NM_021956	0	0	0	0	0	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767886	0.90020	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.107665	0.64402	D	0.000008	T	0.56217	0.1970	M	0.87180	2.865	0.80722	D	1	D;D;D	0.59357	0.985;0.979;0.974	P;D;P	0.65140	0.887;0.932;0.887	T	0.63129	-0.6706	10	0.87932	D	0	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	210;210;210	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	210;210;210;210;210;210;210;161;172	ENSP00000397026:D210H;ENSP00000405596:D210H;ENSP00000358134:D210H;ENSP00000351128:D210H;ENSP00000358133:D210H;ENSP00000313276:D210H;ENSP00000358130:D161H	ENSP00000313276:D210H	D	+	1	0	GRIK2	102231277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.867000	0.99620	2.698000	0.92095	0.585000	0.79938	GAT	.		0.368	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
SCML4	256380	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	108041954	108041954	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:108041954G>A	ENST00000369020.3	-	6	1171	c.926C>T	c.(925-927)gCc>gTc	p.A309V	SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.A280V|SCML4_ENST00000369025.2_Missense_Mutation_p.A67V|SCML4_ENST00000369022.2_Missense_Mutation_p.A251V	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	309	SAM.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGGGCTGGAGGCTGGAGGCCT	0.597																																					p.A309V		.											.	SCML4-91	0			c.C926T						.						82.0	87.0	85.0					6																	108041954		2203	4300	6503	SO:0001583	missense	256380	exon6			CTGGAGGCTGGAG		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.926C>T	6.37:g.108041954G>A	ENSP00000358016:p.Ala309Val	57	1		75	23	NM_198081	0	0	0	0	0	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968271	0.34754	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.51817	0.88;0.88;0.69	5.19	4.33	0.51752	.	0.331705	0.26321	N	0.025058	T	0.25680	0.0625	L	0.48642	1.525	0.39751	D	0.971888	B;B;P	0.38827	0.084;0.008;0.649	B;B;B	0.36666	0.063;0.041;0.23	T	0.05683	-1.0870	10	0.26408	T	0.33	.	14.3543	0.66727	0.0:0.1981:0.8019:0.0	.	309;309;280	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	V	251;67;309;280	ENSP00000358018:A251V;ENSP00000358016:A309V;ENSP00000358017:A280V	ENSP00000358016:A309V	A	-	2	0	SCML4	108148647	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	3.404000	0.52623	1.425000	0.47237	0.650000	0.86243	GCC	.		0.597	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128	
SCML4	256380	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	108068044	108068044	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:108068044C>T	ENST00000369020.3	-	4	581	c.336G>A	c.(334-336)agG>agA	p.R112R	SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369021.3_Silent_p.R83R|SCML4_ENST00000369022.2_Silent_p.R54R	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCACCTTCTTCCTCTCCAGAT	0.642																																					p.R112R		.											.	SCML4-91	0			c.G336A						.						57.0	52.0	54.0					6																	108068044		2203	4300	6503	SO:0001819	synonymous_variant	256380	exon4			CTTCTTCCTCTCC		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.336G>A	6.37:g.108068044C>T		106	1		138	42	NM_198081	0	0	0	0	0	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Silent	SNP	ENST00000369020.3	37	CCDS5060.2																																																																																			.		0.642	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128	
LACE1	246269	broad.mit.edu	37	6	108677903	108677903	+	Missense_Mutation	SNP	G	G	C	rs532639912		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:108677903G>C	ENST00000368977.4	+	5	713	c.527G>C	c.(526-528)cGc>cCc	p.R176P		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	176						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		GGAATACATCGCCTTAAACAG	0.323																																					p.R176P		.											.	LACE1-90	0			c.G527C						.						72.0	71.0	71.0					6																	108677903		2203	4300	6503	SO:0001583	missense	246269	exon5			TACATCGCCTTAA	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.527G>C	6.37:g.108677903G>C	ENSP00000357973:p.Arg176Pro	42	0		53	6	NM_145315	0	0	0	0	0	Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	CCDS5067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.68|17.68	3.449417|3.449417	0.63178|0.63178	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000421954|ENST00000368977;ENST00000437715	.|.	.|.	.|.	5.6|5.6	3.82|3.82	0.43975|0.43975	.|.	.|0.111498	.|0.64402	.|D	.|0.000006	T|T	0.51160|0.51160	0.1658|0.1658	M|M	0.83774|0.83774	2.66|2.66	0.47009|0.47009	D|D	0.999287|0.999287	.|P	.|0.46987	.|0.888	.|P	.|0.44897	.|0.463	T|T	0.57027|0.57027	-0.7881|-0.7881	5|9	.|0.48119	.|T	.|0.1	-0.7806|-0.7806	12.0325|12.0325	0.53406|0.53406	0.1403:0.0:0.8597:0.0|0.1403:0.0:0.8597:0.0	.|.	.|176	.|Q8WV93	.|LACE1_HUMAN	P|P	44|176;143	.|.	.|ENSP00000357973:R176P	A|R	+|+	1|2	0|0	LACE1|LACE1	108784596|108784596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.318000|5.318000	0.65829|0.65829	0.722000|0.722000	0.32252|0.32252	0.557000|0.557000	0.71058|0.71058	GCC|CGC	.		0.323	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315	
RPF2	84154	broad.mit.edu	37	6	111329294	111329294	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:111329294T>C	ENST00000441448.2	+	7	539	c.447T>C	c.(445-447)gaT>gaC	p.D149D	RNU6-906P_ENST00000384700.1_RNA	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	149	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CTGGCGATGATTTCGATGTAA	0.313																																					p.D149D		.											.	RPF2-92	0			c.T447C						.						75.0	81.0	79.0					6																	111329294		2203	4300	6503	SO:0001819	synonymous_variant	84154	exon7			CGATGATTTCGAT	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.447T>C	6.37:g.111329294T>C		110	0		151	4	NM_032194	0	0	0	0	0	Q5VXN1|Q8N4A1	Silent	SNP	ENST00000441448.2	37	CCDS5088.1																																																																																			.		0.313	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194	
WISP3	8838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	112375568	112375568	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:112375568G>T	ENST00000368666.2	+	1	294	c.8G>T	c.(7-9)gGg>gTg	p.G3V	WISP3_ENST00000230529.5_Missense_Mutation_p.G3V|WISP3_ENST00000604763.1_Missense_Mutation_p.G3V|WISP3_ENST00000483439.1_3'UTR|WISP3_ENST00000361714.1_Missense_Mutation_p.G21V	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	3					cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GACATGCAGGGGCTCCTCTTC	0.587																																					p.G21V		.											.	WISP3-90	0			c.G62T						.						169.0	153.0	158.0					6																	112375568		2203	4300	6503	SO:0001583	missense	8838	exon1			TGCAGGGGCTCCT	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.8G>T	6.37:g.112375568G>T	ENSP00000357655:p.Gly3Val	107	0		121	42	NM_198239	0	0	0	0	0	Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967543	0.53507	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400	T;T;T	0.79247	-1.2;-1.2;-1.25	5.04	1.1	0.20463	.	5.566250	0.00166	N	0.000000	T	0.42944	0.1225	N	0.14661	0.345	0.09310	N	1	B;B	0.22983	0.078;0.019	B;B	0.26969	0.075;0.034	T	0.33111	-0.9881	10	0.38643	T	0.18	.	6.7993	0.23742	0.1496:0.2713:0.5791:0.0	.	21;3	O95389-2;O95389	.;WISP3_HUMAN	V	3;3;21;3	ENSP00000357655:G3V;ENSP00000230529:G3V;ENSP00000354734:G21V	ENSP00000230529:G3V	G	+	2	0	WISP3	112482261	0.076000	0.21285	0.000000	0.03702	0.049000	0.14656	1.528000	0.35985	-0.018000	0.14079	0.650000	0.86243	GGG	.		0.587	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880	
HS3ST5	222537	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	114378755	114378755	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:114378755T>A	ENST00000312719.5	-	5	1895	c.707A>T	c.(706-708)aAa>aTa	p.K236I	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.K236I			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	236					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TTCCAGATGTTTGGTGTAGAT	0.423																																					p.K236I		.											.	HS3ST5-92	0			c.A707T						.						225.0	225.0	225.0					6																	114378755		2203	4300	6503	SO:0001583	missense	222537	exon2			AGATGTTTGGTGT	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.707A>T	6.37:g.114378755T>A	ENSP00000427888:p.Lys236Ile	113	0		139	55	NM_153612	0	0	0	0	0	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559199	0.27827	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.83163	-1.69;-1.69	6.06	6.06	0.98353	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	L	0.28344	0.845	0.52501	D	0.999951	B	0.33940	0.433	P	0.45232	0.474	T	0.72909	-0.4149	10	0.22706	T	0.39	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	236	Q8IZT8	HS3S5_HUMAN	I	236	ENSP00000427888:K236I;ENSP00000440332:K236I	ENSP00000427888:K236I	K	-	2	0	HS3ST5	114485448	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.906000	0.63293	2.324000	0.78689	0.533000	0.62120	AAA	.		0.423	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612	
HS3ST5	222537	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	114379130	114379130	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:114379130T>G	ENST00000312719.5	-	5	1520	c.332A>C	c.(331-333)aAc>aCc	p.N111T	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.N111T			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	111					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGGATGTAGGTTCAGCATTTC	0.483																																					p.N111T		.											.	HS3ST5-92	0			c.A332C						.						90.0	89.0	89.0					6																	114379130		2203	4300	6503	SO:0001583	missense	222537	exon2			TGTAGGTTCAGCA	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.332A>C	6.37:g.114379130T>G	ENSP00000427888:p.Asn111Thr	65	0		99	10	NM_153612	0	0	0	0	0	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220857	0.39201	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.83075	-1.68;-1.68	5.62	5.62	0.85841	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	N	0.04260	-0.245	0.58432	D	0.999999	P	0.51351	0.944	B	0.43413	0.419	T	0.64495	-0.6394	10	0.17832	T	0.49	.	16.1189	0.81329	0.0:0.0:0.0:1.0	.	111	Q8IZT8	HS3S5_HUMAN	T	111	ENSP00000427888:N111T;ENSP00000440332:N111T	ENSP00000427888:N111T	N	-	2	0	HS3ST5	114485823	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.202000	0.72131	2.263000	0.75096	0.533000	0.62120	AAC	.		0.483	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612	
GPRC6A	222545	hgsc.bcm.edu	37	6	117116960	117116960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:117116960delC	ENST00000310357.3	-	5	1608	c.1587delG	c.(1585-1587)gggfs	p.G529fs	GPRC6A_ENST00000530250.1_Frame_Shift_Del_p.G354fs|GPRC6A_ENST00000368549.3_Frame_Shift_Del_p.G458fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	529					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTTCATTTGCCCAGGACTGC	0.318																																					p.G529fs		.											.	GPRC6A-96	0			c.1587delG						.						164.0	145.0	152.0					6																	117116960		2203	4300	6503	SO:0001589	frameshift_variant	222545	exon5			CATTTGCCCAGGA	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1587delG	6.37:g.117116960delC	ENSP00000309493:p.Gly529fs	57	2		74	23	NM_148963	0	0	0	0	0	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Frame_Shift_Del	DEL	ENST00000310357.3	37	CCDS5112.1																																																																																			.		0.318	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
GPRC6A	222545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	117130541	117130541	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:117130541C>A	ENST00000310357.3	-	2	455	c.434G>T	c.(433-435)gGt>gTt	p.G145V	GPRC6A_ENST00000530250.1_Missense_Mutation_p.G145V|GPRC6A_ENST00000368549.3_Missense_Mutation_p.G145V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	145					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTACCCAGAACCTATGACAGC	0.428																																					p.G145V		.											.	GPRC6A-96	0			c.G434T						.						92.0	89.0	90.0					6																	117130541		2203	4300	6503	SO:0001583	missense	222545	exon2			CCAGAACCTATGA	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.434G>T	6.37:g.117130541C>A	ENSP00000309493:p.Gly145Val	85	0		109	50	NM_148963	0	0	0	0	0	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286150	0.80803	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.97831	-4.56;-4.56;-4.56	4.86	4.86	0.63082	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.98985	0.9654	M	0.91510	3.215	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99521	1.0958	10	0.66056	D	0.02	.	18.1821	0.89781	0.0:1.0:0.0:0.0	.	145;145;145	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	V	145	ENSP00000309493:G145V;ENSP00000357537:G145V;ENSP00000433465:G145V	ENSP00000309493:G145V	G	-	2	0	GPRC6A	117237234	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.878000	0.75567	2.531000	0.85337	0.585000	0.79938	GGT	.		0.428	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
ROS1	6098	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	117709087	117709087	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:117709087G>A	ENST00000368508.3	-	13	2068	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y	ROS1_ENST00000368507.3_Missense_Mutation_p.H619Y|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	624	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGAAAATATGAGTGACTTCA	0.443			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.H624Y		.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	ROS1-1353	0			c.C1870T						.						164.0	162.0	163.0					6																	117709087		2203	4300	6503	SO:0001583	missense	6098	exon13			AAATATGAGTGAC	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1870C>T	6.37:g.117709087G>A	ENSP00000357494:p.His624Tyr	132	2		178	57	NM_002944	0	0	0	0	0	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	2.076	-0.411967	0.04799	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.71103	-0.54;1.12	5.24	5.24	0.73138	.	1.434160	0.03881	N	0.277165	T	0.49932	0.1586	L	0.46157	1.445	0.36861	D	0.888387	B	0.23650	0.089	B	0.20955	0.032	T	0.31943	-0.9925	10	0.22109	T	0.4	.	9.6449	0.39861	0.1003:0.0:0.8997:0.0	.	624	P08922	ROS1_HUMAN	Y	624;619	ENSP00000357494:H624Y;ENSP00000357493:H619Y	ENSP00000357493:H619Y	H	-	1	0	ROS1	117815780	0.032000	0.19561	0.939000	0.37840	0.236000	0.25371	0.390000	0.20768	2.630000	0.89119	0.561000	0.74099	CAT	.		0.443	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
TBC1D32	221322	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	121563361	121563361	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:121563361C>A	ENST00000398212.2	-	18	2192	c.2143G>T	c.(2143-2145)Gca>Tca	p.A715S	TBC1D32_ENST00000275159.6_Missense_Mutation_p.A715S	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	715					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AATTTTTTTGCATATCGATTG	0.338																																					p.A715S		.											.	C6orf170-92	0			c.G2143T						.						94.0	87.0	89.0					6																	121563361		1829	4089	5918	SO:0001583	missense	221322	exon18			TTTTTGCATATCG	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2143G>T	6.37:g.121563361C>A	ENSP00000381270:p.Ala715Ser	85	0		77	21	NM_152730	0	0	0	0	0	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275775	0.23307	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.19669	2.13;2.13	5.0	1.17	0.20885	.	0.352762	0.28595	N	0.014787	T	0.11196	0.0273	L	0.40543	1.245	0.28621	N	0.908163	D;B	0.71674	0.998;0.012	D;B	0.80764	0.994;0.041	T	0.07751	-1.0756	10	0.09590	T	0.72	.	4.2352	0.10621	0.2497:0.4616:0.0:0.2887	.	715;715	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	S	715	ENSP00000275159:A715S;ENSP00000381270:A715S	ENSP00000275159:A715S	A	-	1	0	C6orf170	121605060	0.973000	0.33851	0.949000	0.38748	0.818000	0.46254	0.824000	0.27379	0.001000	0.14605	-1.159000	0.01794	GCA	.		0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
NKAIN2	154215	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	124979429	124979429	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:124979429C>T	ENST00000368417.1	+	4	431	c.371C>T	c.(370-372)cCa>cTa	p.P124L	NKAIN2_ENST00000545433.1_Missense_Mutation_p.P109L|NKAIN2_ENST00000368416.1_Missense_Mutation_p.P124L|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ACACCTGCCCCAGACTGGGCC	0.507																																					p.P124L		.											.	NKAIN2-23	0			c.C371T						.						158.0	129.0	139.0					6																	124979429		2203	4300	6503	SO:0001583	missense	154215	exon4			CTGCCCCAGACTG	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.371C>T	6.37:g.124979429C>T	ENSP00000357402:p.Pro124Leu	183	1		184	75	NM_001040214	0	0	0	0	0	Q8IYR4|Q8TF67	Missense_Mutation	SNP	ENST00000368417.1	37	CCDS34526.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319280	0.81469	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000539866;ENST00000545433	T;T;T	0.15017	2.46;2.46;2.46	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	L	0.46885	1.475	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.999;0.999	T	0.00472	-1.1719	10	0.38643	T	0.18	-13.5369	19.9132	0.97031	0.0:1.0:0.0:0.0	.	109;123;124;124	B3KNZ0;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	L	124;124;123;109	ENSP00000357401:P124L;ENSP00000357402:P124L;ENSP00000437798:P109L	ENSP00000357401:P124L	P	+	2	0	NKAIN2	125021128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.433000	0.80362	2.710000	0.92621	0.644000	0.83932	CCA	.		0.507	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214	
LAMA2	3908	ucsc.edu;bcgsc.ca	37	6	129641765	129641765	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:129641765G>T	ENST00000421865.2	+	28	4190	c.4141G>T	c.(4141-4143)Gat>Tat	p.D1381Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1381	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAAAAATGTGATTGTCCCCT	0.453																																					p.D1381Y		.											.	LAMA2-162	0			c.G4141T						.						171.0	158.0	163.0					6																	129641765		2203	4300	6503	SO:0001583	missense	3908	exon28			AAATGTGATTGTC	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4141G>T	6.37:g.129641765G>T	ENSP00000400365:p.Asp1381Tyr	140	3		144	45	NM_000426	0	0	0	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857955	0.32791	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.62498	0.02	5.27	5.27	0.74061	EGF-like, laminin (1);	0.103806	0.64402	D	0.000005	T	0.72755	0.3500	L	0.61218	1.895	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.67900	0.954;0.954	T	0.73962	-0.3817	10	0.59425	D	0.04	.	19.2435	0.93893	0.0:0.0:1.0:0.0	.	1381;1381	A6NF00;P24043	.;LAMA2_HUMAN	Y	1381	ENSP00000400365:D1381Y	ENSP00000346769:D1381Y	D	+	1	0	LAMA2	129683458	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	7.275000	0.78548	2.628000	0.89032	0.563000	0.77884	GAT	.		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	129766860	129766860	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:129766860G>T	ENST00000421865.2	+	45	6372	c.6323G>T	c.(6322-6324)cGg>cTg	p.R2108L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2108	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAGCTGACCGGCTAATAGAT	0.408																																					p.R2108L		.											.	LAMA2-162	0			c.G6323T						.						66.0	62.0	64.0					6																	129766860		2203	4300	6503	SO:0001583	missense	3908	exon45			CTGACCGGCTAAT	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6323G>T	6.37:g.129766860G>T	ENSP00000400365:p.Arg2108Leu	133	1		132	52	NM_000426	0	0	0	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380287	0.24944	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.41065	1.01	5.23	5.23	0.72850	Laminin II (1);	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	N	0.20986	0.625	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.20107	-1.0285	10	0.24483	T	0.36	.	18.8138	0.92070	0.0:0.0:1.0:0.0	.	2109;2108	A6NF00;P24043	.;LAMA2_HUMAN	L	2108;2107;2108;126	ENSP00000400365:R2108L	ENSP00000346769:R2107L	R	+	2	0	LAMA2	129808553	1.000000	0.71417	0.963000	0.40424	0.873000	0.50193	7.654000	0.83653	2.450000	0.82876	0.655000	0.94253	CGG	.		0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
TMEM200A	114801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	130761684	130761684	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:130761684C>G	ENST00000296978.3	+	3	988	c.117C>G	c.(115-117)ccC>ccG	p.P39P	TMEM200A_ENST00000392429.1_Silent_p.P39P|TMEM200A_ENST00000545622.1_Silent_p.P39P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	39						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGAAGAAGCCCATCAGGCGCC	0.532																																					p.P39P		.											.	TMEM200A-23	0			c.C117G						.						109.0	119.0	115.0					6																	130761684		2203	4300	6503	SO:0001819	synonymous_variant	114801	exon3			GAAGCCCATCAGG	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.117C>G	6.37:g.130761684C>G		116	0		88	41	NM_001258277	0	0	0	0	0	Q96PX5	Silent	SNP	ENST00000296978.3	37	CCDS5140.1																																																																																			.		0.532	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913	
TMEM200A	114801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	130762826	130762826	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:130762826C>A	ENST00000296978.3	+	3	2130	c.1259C>A	c.(1258-1260)cCt>cAt	p.P420H	TMEM200A_ENST00000392429.1_Missense_Mutation_p.P420H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.P420H	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	420						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCAAGTTGGCCTAGGTTGGAT	0.483																																					p.P420H		.											.	TMEM200A-23	0			c.C1259A						.						102.0	93.0	96.0					6																	130762826		2203	4300	6503	SO:0001583	missense	114801	exon3			GTTGGCCTAGGTT	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1259C>A	6.37:g.130762826C>A	ENSP00000296978:p.Pro420His	52	0		73	27	NM_001258277	0	0	0	0	0	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471840	0.84533	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70360	-0.4893	9	0.87932	D	0	-22.4123	20.4008	0.98991	0.0:1.0:0.0:0.0	.	420	Q86VY9	T200A_HUMAN	H	420	.	ENSP00000296978:P420H	P	+	2	0	TMEM200A	130804519	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.877000	0.69675	2.826000	0.97356	0.655000	0.94253	CCT	.		0.483	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913	
TMEM200A	114801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	130762909	130762909	+	Missense_Mutation	SNP	G	G	T	rs371246357		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:130762909G>T	ENST00000296978.3	+	3	2213	c.1342G>T	c.(1342-1344)Gtt>Ttt	p.V448F	TMEM200A_ENST00000392429.1_Missense_Mutation_p.V448F|TMEM200A_ENST00000545622.1_Missense_Mutation_p.V448F	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	448						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGTGCCCCAAGTTGCCATCAA	0.388																																					p.V448F		.											.	TMEM200A-23	0			c.G1342T						.						104.0	100.0	101.0					6																	130762909		2203	4300	6503	SO:0001583	missense	114801	exon3			CCCCAAGTTGCCA	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1342G>T	6.37:g.130762909G>T	ENSP00000296978:p.Val448Phe	62	0		55	22	NM_001258277	0	0	0	0	0	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236210	0.39498	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.96	3.22	0.36961	.	0.350307	0.28098	N	0.016611	T	0.13372	0.0324	N	0.19112	0.55	0.21915	N	0.999477	B	0.26876	0.162	B	0.30855	0.121	T	0.15867	-1.0422	9	0.56958	D	0.05	-6.6	10.7545	0.46228	0.1997:0.0:0.8003:0.0	.	448	Q86VY9	T200A_HUMAN	F	448	.	ENSP00000296978:V448F	V	+	1	0	TMEM200A	130804602	0.998000	0.40836	0.114000	0.21550	0.955000	0.61496	3.658000	0.54482	0.409000	0.25649	0.655000	0.94253	GTT	.		0.388	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913	
TAAR5	9038	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	132910041	132910041	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:132910041A>T	ENST00000258034.2	-	1	836	c.785T>A	c.(784-786)cTc>cAc	p.L262H		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	262					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CCAGCACAAGAGGTATATGCC	0.522																																					p.L262H		.											.	TAAR5-91	0			c.T785A						.						76.0	78.0	77.0					6																	132910041		2203	4300	6503	SO:0001583	missense	9038	exon1			CACAAGAGGTATA	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.785T>A	6.37:g.132910041A>T	ENSP00000258034:p.Leu262His	269	2		310	120	NM_003967	0	0	0	0	0	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880960	0.72294	.	.	ENSG00000135569	ENST00000258034	T	0.73469	-0.75	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.216802	0.31897	N	0.006893	D	0.89083	0.6614	H	0.95574	3.69	0.46631	D	0.99913	D	0.89917	1.0	D	0.83275	0.996	D	0.92206	0.5772	10	0.87932	D	0	-24.8283	15.9198	0.79552	1.0:0.0:0.0:0.0	.	262	O14804	TAAR5_HUMAN	H	262	ENSP00000258034:L262H	ENSP00000258034:L262H	L	-	2	0	TAAR5	132951734	0.981000	0.34729	0.997000	0.53966	0.949000	0.60115	7.244000	0.78228	2.343000	0.79666	0.533000	0.62120	CTC	.		0.522	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967	
TAAR5	9038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	132910108	132910108	+	Missense_Mutation	SNP	G	G	T	rs188569215		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:132910108G>T	ENST00000258034.2	-	1	769	c.718C>A	c.(718-720)Ctg>Atg	p.L240M		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	240					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCCCCAGCCAGGCTTTTGCTC	0.502																																					p.L240M		.											.	TAAR5-91	0			c.C718A						.						44.0	45.0	45.0					6																	132910108		2203	4300	6503	SO:0001583	missense	9038	exon1			CAGCCAGGCTTTT	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.718C>A	6.37:g.132910108G>T	ENSP00000258034:p.Leu240Met	125	0		140	55	NM_003967	0	0	0	0	0	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	G	5.015	0.188453	0.09547	.	.	ENSG00000135569	ENST00000258034	T	0.38401	1.14	5.58	-0.874	0.10631	GPCR, rhodopsin-like superfamily (1);	0.890844	0.09295	N	0.821755	T	0.12817	0.0311	M	0.62016	1.91	0.09310	N	1	B	0.20368	0.044	B	0.23275	0.045	T	0.34129	-0.9841	10	0.37606	T	0.19	-1.3126	2.7094	0.05170	0.3163:0.1008:0.4434:0.1394	.	240	O14804	TAAR5_HUMAN	M	240	ENSP00000258034:L240M	ENSP00000258034:L240M	L	-	1	2	TAAR5	132951801	0.000000	0.05858	0.208000	0.23602	0.483000	0.33249	-0.683000	0.05179	-0.057000	0.13199	-0.345000	0.07892	CTG	G|0.999;A|0.001		0.502	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967	
VNN1	8876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	133032885	133032885	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:133032885G>A	ENST00000367928.4	-	2	317	c.304C>T	c.(304-306)Cct>Tct	p.P102S		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	102	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TTTACTTCAGGGTCTGGGATG	0.398																																					p.P102S		.											.	VNN1-93	0			c.C304T						.						116.0	115.0	115.0					6																	133032885		2203	4300	6503	SO:0001583	missense	8876	exon2			CTTCAGGGTCTGG	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.304C>T	6.37:g.133032885G>A	ENSP00000356905:p.Pro102Ser	96	0		114	27	NM_004666	0	0	0	0	0	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012459	0.75046	.	.	ENSG00000112299	ENST00000367928	D	0.90676	-2.71	5.6	4.72	0.59763	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.072915	0.64402	N	0.000019	D	0.92179	0.7520	M	0.87180	2.865	0.53688	D	0.99997	D	0.58620	0.983	P	0.51999	0.687	D	0.92304	0.5852	10	0.49607	T	0.09	-20.5712	14.3746	0.66865	0.0724:0.0:0.9275:0.0	.	102	O95497	VNN1_HUMAN	S	102	ENSP00000356905:P102S	ENSP00000356905:P102S	P	-	1	0	VNN1	133074578	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.120000	0.64685	1.362000	0.46000	0.555000	0.69702	CCT	.		0.398	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1		
EYA4	2070	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	133836501	133836501	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:133836501G>T	ENST00000367895.5	+	17	2008	c.1544G>T	c.(1543-1545)aGg>aTg	p.R515M	EYA4_ENST00000531901.1_Missense_Mutation_p.R521M|EYA4_ENST00000452339.2_Missense_Mutation_p.R461M|EYA4_ENST00000430974.2_Missense_Mutation_p.R467M|EYA4_ENST00000525849.1_Missense_Mutation_p.R492M|EYA4_ENST00000355167.3_Missense_Mutation_p.R515M|EYA4_ENST00000355286.6_Missense_Mutation_p.R492M|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.R515M	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	515					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTACAGTTAAGGGCAGAGATT	0.428																																					p.R515M	Melanoma(57;398 1237 3528 4702 7415)	.											.	EYA4-578	0			c.G1544T						.						184.0	175.0	178.0					6																	133836501		2203	4300	6503	SO:0001583	missense	2070	exon17			AGTTAAGGGCAGA	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1544G>T	6.37:g.133836501G>T	ENSP00000356870:p.Arg515Met	114	1		111	25	NM_172105	0	0	0	0	0	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106392	0.94292	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.73	5.73	0.89815	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.989;0.992;0.998;0.998;0.994;0.989	D	0.91557	0.5261	10	0.87932	D	0	-19.4283	20.2602	0.98440	0.0:0.0:1.0:0.0	.	521;467;461;492;515;515	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	M	461;467;515;515;492;521;492;515	ENSP00000395916:R461M;ENSP00000388670:R467M;ENSP00000356870:R515M;ENSP00000347294:R515M;ENSP00000347434:R492M;ENSP00000432770:R521M;ENSP00000433219:R492M;ENSP00000404558:R515M	ENSP00000347294:R515M	R	+	2	0	EYA4	133878194	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	AGG	.		0.428	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	
AHI1	54806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	135754223	135754223	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:135754223C>A	ENST00000367800.4	-	14	2424	c.2208G>T	c.(2206-2208)ttG>ttT	p.L736F	AHI1_ENST00000457866.2_Missense_Mutation_p.L736F|AHI1_ENST00000417892.2_Missense_Mutation_p.L90F|AHI1_ENST00000327035.6_Missense_Mutation_p.L736F	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	736					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ACTGTCGGACCAATATGGCAG	0.378																																					p.L736F		.											.	AHI1-227	0			c.G2208T						.						146.0	139.0	141.0					6																	135754223		1869	4108	5977	SO:0001583	missense	54806	exon15			TCGGACCAATATG	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2208G>T	6.37:g.135754223C>A	ENSP00000356774:p.Leu736Phe	166	0		189	62	NM_001134832	0	0	0	0	0	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.43|11.43	1.635446|1.635446	0.29068|0.29068	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	T;T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33;-0.33|.	5.74|5.74	0.802|0.802	0.18686|0.18686	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55816|0.55816	0.1944|0.1944	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.997;0.997;1.0|.	D;D;D|.	0.81914|.	0.916;0.949;0.995|.	T|T	0.56836|0.56836	-0.7913|-0.7913	10|5	0.87932|.	D|.	0|.	-9.0325|-9.0325	4.365|4.365	0.11220|0.11220	0.2227:0.4378:0.0:0.3395|0.2227:0.4378:0.0:0.3395	.|.	736;736;736|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	F|L	736;736;90;736;736;736|236	ENSP00000356774:L736F;ENSP00000388650:L736F;ENSP00000416867:L90F;ENSP00000265602:L736F;ENSP00000322478:L736F|.	ENSP00000265602:L736F|.	L|W	-|-	3|2	2|0	AHI1|AHI1	135795916|135795916	0.478000|0.478000	0.25917|0.25917	0.202000|0.202000	0.23494|0.23494	0.006000|0.006000	0.05464|0.05464	0.168000|0.168000	0.16622|0.16622	0.070000|0.070000	0.16634|0.16634	-0.140000|-0.140000	0.14226|0.14226	TTG|TGG	.		0.378	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
AHI1	54806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	135754324	135754324	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:135754324C>A	ENST00000367800.4	-	14	2323	c.2107G>T	c.(2107-2109)Gct>Tct	p.A703S	AHI1_ENST00000457866.2_Missense_Mutation_p.A703S|AHI1_ENST00000417892.2_Missense_Mutation_p.A57S|AHI1_ENST00000327035.6_Missense_Mutation_p.A703S	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	703					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGGAATTTAGCCGTGTAAACA	0.348																																					p.A703S		.											.	AHI1-227	0			c.G2107T						.						103.0	97.0	99.0					6																	135754324		1845	4088	5933	SO:0001583	missense	54806	exon15			ATTTAGCCGTGTA	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2107G>T	6.37:g.135754324C>A	ENSP00000356774:p.Ala703Ser	116	0		89	34	NM_001134832	0	0	0	0	0	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260010	0.80246	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046004	0.85682	D	0.000000	T	0.62660	0.2446	L	0.52823	1.66	0.80722	D	1	P;P;D	0.56968	0.875;0.898;0.978	B;P;P	0.57324	0.423;0.559;0.818	T	0.60255	-0.7299	10	0.42905	T	0.14	-19.3427	19.6098	0.95600	0.0:1.0:0.0:0.0	.	703;703;703	Q8N157-2;Q8N157;Q4FD35	.;AHI1_HUMAN;.	S	703;703;57;703;703;703	ENSP00000356774:A703S;ENSP00000388650:A703S;ENSP00000416867:A57S;ENSP00000265602:A703S;ENSP00000322478:A703S	ENSP00000265602:A703S	A	-	1	0	AHI1	135796017	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.531000	0.67148	2.633000	0.89246	0.561000	0.74099	GCT	.		0.348	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
BCLAF1	9774	hgsc.bcm.edu	37	6	136582203	136582396	+	Stop_Codon_Del	DEL	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	-	rs376948280|rs537502804|rs562481221|rs527483217|rs112744301|rs375440569|rs74299323|rs370252607|rs570210520|rs111800140|rs370457195|rs76890371|rs193167212	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:136582203_136582396delTGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	ENST00000531224.1	-	0	3010_3060				BCLAF1_ENST00000031135.9_Stop_Codon_Del|BCLAF1_ENST00000527536.1_Stop_Codon_Del|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Stop_Codon_Del|BCLAF1_ENST00000530767.1_Stop_Codon_Del|BCLAF1_ENST00000527759.1_Stop_Codon_Del|BCLAF1_ENST00000353331.4_Stop_Codon_Del	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTAAAAAAAATGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATTTTATACCTTT	0.299																																					p.920_921del	Colon(142;1534 1789 5427 7063 28491)	.											.	BCLAF1-228	0			c.2758_3016del						.																																			SO:0001567	stop_retained_variant	9774	exon13			AAAAAATGGTGGG	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	Exception_encountered	6.37:g.136582203_136582396delTGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	Exception_encountered	145	0		143	0	NM_014739	0	0	0	0	0	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	37	CCDS5177.1																																																																																			.		0.299	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
BCLAF1	9774	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	136599766	136599766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:136599766C>A	ENST00000531224.1	-	4	505	c.253G>T	c.(253-255)Gga>Tga	p.G85*	BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.G85*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.G83*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.G85*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.G83*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.G83*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	85					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TATCTACCTCCTCCTCCTTGA	0.448																																					p.G85X	Colon(142;1534 1789 5427 7063 28491)	.											.	BCLAF1-228	0			c.G253T						.						114.0	108.0	110.0					6																	136599766		2203	4300	6503	SO:0001587	stop_gained	9774	exon4			TACCTCCTCCTCC	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.253G>T	6.37:g.136599766C>A	ENSP00000435210:p.Gly85*	147	0		200	21	NM_014739	0	0	0	0	0	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705476	0.89018	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.7995	17.8791	0.88834	0.0:1.0:0.0:0.0	.	.	.	.	X	85;83;85;85;83;83;85	.	ENSP00000229446:G83X	G	-	1	0	BCLAF1	136641459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.717000	0.54911	2.660000	0.90430	0.557000	0.71058	GGA	.		0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
TXLNB	167838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	139563758	139563758	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:139563758G>T	ENST00000358430.3	-	10	2192	c.1960C>A	c.(1960-1962)Ccc>Acc	p.P654T	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	654						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCTCGTGGGGGCTGCCTACTG	0.647																																					p.P654T		.											.	TXLNB-91	0			c.C1960A						.						53.0	58.0	56.0					6																	139563758		2203	4300	6503	SO:0001583	missense	167838	exon10			GTGGGGGCTGCCT		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1960C>A	6.37:g.139563758G>T	ENSP00000351206:p.Pro654Thr	70	0		105	20	NM_153235	0	0	0	0	0	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248402	0.39797	.	.	ENSG00000164440	ENST00000358430	T	0.20463	2.07	5.82	2.94	0.34122	.	0.176739	0.33813	N	0.004536	T	0.04318	0.0119	L	0.29908	0.895	0.09310	N	1	B	0.30068	0.267	B	0.30029	0.11	T	0.34725	-0.9817	9	.	.	.	-2.125	5.1907	0.15209	0.151:0.0:0.6811:0.1678	.	654	Q8N3L3	TXLNB_HUMAN	T	654	ENSP00000351206:P654T	.	P	-	1	0	TXLNB	139605451	0.078000	0.21339	0.004000	0.12327	0.062000	0.15995	0.846000	0.27682	0.824000	0.34613	0.591000	0.81541	CCC	.		0.647	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235	
GPR126	57211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	142691775	142691775	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:142691775G>T	ENST00000230173.6	+	4	1390	c.914G>T	c.(913-915)gGg>gTg	p.G305V	GPR126_ENST00000296932.8_Missense_Mutation_p.G305V|GPR126_ENST00000367608.2_Missense_Mutation_p.G305V|GPR126_ENST00000367609.3_Missense_Mutation_p.G305V|GPR126_ENST00000545477.1_Intron	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	305	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCTCTAAAAGGGGACATTTAT	0.373																																					p.G305V		.											.	GPR126-91	0			c.G914T						.						130.0	130.0	130.0					6																	142691775		1822	4072	5894	SO:0001583	missense	57211	exon4			TAAAAGGGGACAT	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.914G>T	6.37:g.142691775G>T	ENSP00000230173:p.Gly305Val	149	0		136	51	NM_198569	0	0	0	0	0	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295260	0.40594	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	6.01	4.21	0.49690	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.261079	0.33834	N	0.004520	D	0.94788	0.8317	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.996;0.997	D;D;D;D	0.69654	0.959;0.959;0.941;0.965	D	0.95025	0.8164	10	0.87932	D	0	.	13.507	0.61489	0.0:0.1205:0.7538:0.1257	.	305;305;305;305	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	V	305	ENSP00000230173:G305V;ENSP00000356580:G305V;ENSP00000296932:G305V;ENSP00000356581:G305V	ENSP00000230173:G305V	G	+	2	0	GPR126	142733468	1.000000	0.71417	0.841000	0.33234	0.004000	0.04260	7.315000	0.78998	0.851000	0.35264	-0.175000	0.13238	GGG	.		0.373	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
ADAT2	134637	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	143749780	143749780	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:143749780T>C	ENST00000237283.8	-	5	515	c.501A>G	c.(499-501)ttA>ttG	p.L167L	ADAT2_ENST00000606514.1_Silent_p.L120L	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	167					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		AGAAGGTCTTTAACATTTCCA	0.398																																					p.L167L		.											.	ADAT2-90	0			c.A501G						.						71.0	69.0	70.0					6																	143749780		1849	4093	5942	SO:0001819	synonymous_variant	134637	exon5			GGTCTTTAACATT	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"""deaminase domain containing 1"", ""adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"""	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.501A>G	6.37:g.143749780T>C		88	0		89	36	NM_182503	0	0	0	0	0	A6NL12|B3KWY3|Q7Z327|Q8IY39	Silent	SNP	ENST00000237283.8	37	CCDS43511.1																																																																																			.		0.398	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727	
AKAP12	9590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	151672276	151672276	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:151672276C>T	ENST00000253332.1	+	3	2939	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	AKAP12_ENST00000359755.5_Missense_Mutation_p.S812L|AKAP12_ENST00000402676.2_Missense_Mutation_p.S917L|AKAP12_ENST00000354675.6_Missense_Mutation_p.S819L			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	917					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATATCTGCTTCAGTGACAGAA	0.488																																					p.S917L	Melanoma(141;1616 1805 10049 24534 51979)	.											.	AKAP12-293	0			c.C2750T						.						60.0	65.0	64.0					6																	151672276		2203	4300	6503	SO:0001583	missense	9590	exon4			CTGCTTCAGTGAC	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2750C>T	6.37:g.151672276C>T	ENSP00000253332:p.Ser917Leu	132	0		135	27	NM_005100	0	0	0	0	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999904	0.35320	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08193	3.12;3.12;3.13;3.13	5.4	3.56	0.40772	.	0.000000	0.37304	N	0.002151	T	0.02970	0.0088	L	0.43701	1.375	0.31601	N	0.652752	B;B;B	0.19200	0.033;0.033;0.034	B;B;B	0.19946	0.027;0.027;0.012	T	0.28170	-1.0052	10	0.45353	T	0.12	.	9.1413	0.36906	0.1438:0.782:0.0:0.0742	.	812;819;917	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	L	917;917;819;812	ENSP00000384537:S917L;ENSP00000253332:S917L;ENSP00000346702:S819L;ENSP00000352794:S812L	ENSP00000253332:S917L	S	+	2	0	AKAP12	151713969	0.731000	0.28111	0.201000	0.23476	0.611000	0.37282	2.779000	0.47734	1.288000	0.44600	-0.254000	0.11334	TCA	.		0.488	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
CCDC170	80129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	151917690	151917690	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:151917690T>A	ENST00000239374.7	+	9	1787	c.1688T>A	c.(1687-1689)cTg>cAg	p.L563Q	CCDC170_ENST00000367290.5_Missense_Mutation_p.L563Q	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	563																	AAAGCCAAACTGGCCGACACC	0.458																																					p.L563Q		.											.	.	0			c.T1688A						.						89.0	95.0	93.0					6																	151917690		2068	4213	6281	SO:0001583	missense	80129	exon9			CCAAACTGGCCGA	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1688T>A	6.37:g.151917690T>A	ENSP00000239374:p.Leu563Gln	126	0		161	51	NM_025059	0	0	0	0	0	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580395	0.65992	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.79454	2.92;-1.27	5.63	5.63	0.86233	.	0.271223	0.30437	N	0.009640	D	0.85526	0.5717	M	0.81239	2.535	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.85204	0.1017	10	0.36615	T	0.2	-8.6528	15.8429	0.78864	0.0:0.0:0.0:1.0	.	563	Q8IYT3	CF097_HUMAN	Q	563	ENSP00000239374:L563Q;ENSP00000356259:L563Q	ENSP00000239374:L563Q	L	+	2	0	C6orf97	151959383	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	5.557000	0.67313	2.145000	0.66743	0.533000	0.62120	CTG	.		0.458	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
ESR1	2099	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	152201872	152201872	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:152201872C>G	ENST00000206249.3	+	3	1088	c.726C>G	c.(724-726)ctC>ctG	p.L242L	ESR1_ENST00000427531.2_Silent_p.L69L|ESR1_ENST00000443427.1_Silent_p.L242L|ESR1_ENST00000338799.5_Silent_p.L242L|ESR1_ENST00000456483.2_Silent_p.L242L|ESR1_ENST00000440973.1_Silent_p.L242L|ESR1_ENST00000406599.1_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	242	Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CCTGCCGGCTCCGTAAATGCT	0.547																																					p.L242L		.											.	ESR1-1042	0			c.C726G						.						54.0	54.0	54.0					6																	152201872		2203	4300	6503	SO:0001819	synonymous_variant	2099	exon3			CCGGCTCCGTAAA	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.726C>G	6.37:g.152201872C>G		73	1		84	33	NM_000125	0	0	0	0	0	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	C	8.981	0.975410	0.18736	.	.	ENSG00000091831	ENST00000427531	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.25568	0.0622	.	.	.	0.51012	D	0.999909	.	.	.	.	.	.	T	0.49570	-0.8926	4	.	.	.	.	6.8124	0.23812	0.2958:0.0871:0.5021:0.115	.	.	.	.	C	147	.	.	S	+	2	0	ESR1	152243565	0.000000	0.05858	0.353000	0.25747	0.988000	0.76386	-4.399000	0.00240	-2.219000	0.00729	-0.211000	0.12701	TCC	.		0.547	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	152647669	152647669	+	Frame_Shift_Del	DEL	C	C	-	rs574614311		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:152647669delC	ENST00000367255.5	-	79	15656	c.15055delG	c.(15055-15057)gcafs	p.A5019fs	SYNE1_ENST00000341594.5_Frame_Shift_Del_p.A4766fs|SYNE1_ENST00000265368.4_Frame_Shift_Del_p.A5019fs|SYNE1_ENST00000423061.1_Frame_Shift_Del_p.A4948fs|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.A4948fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5019					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCATTGCCTGCCAGCTGTAAC	0.458										HNSCC(10;0.0054)																											p.A5019fs		.											.	SYNE1-607	0			c.15055delG						.						68.0	68.0	68.0					6																	152647669		2203	4300	6503	SO:0001589	frameshift_variant	23345	exon79			TGCCTGCCAGCTG	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15055delG	6.37:g.152647669delC	ENSP00000356224:p.Ala5019fs	115	0		126	33	NM_182961	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Del	DEL	ENST00000367255.5	37	CCDS5236.2																																																																																			.		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	152737529	152737529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:152737529G>A	ENST00000367255.5	-	41	6644	c.6043C>T	c.(6043-6045)Cag>Tag	p.Q2015*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q2052*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q2015*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q2022*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q2022*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2015					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TACCTCTGCTGAAGAGCTTGG	0.398										HNSCC(10;0.0054)																											p.Q2022X		.											.	SYNE1-607	0			c.C6064T						.						187.0	193.0	191.0					6																	152737529		2203	4300	6503	SO:0001587	stop_gained	23345	exon41			TCTGCTGAAGAGC	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6043C>T	6.37:g.152737529G>A	ENSP00000356224:p.Gln2015*	40	0		34	11	NM_033071	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	50	16.487831	0.99864	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.97	5.97	0.96955	.	0.104486	0.42548	D	0.000696	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	X	2015;2022;2015;2022;2052	.	ENSP00000265368:Q2015X	Q	-	1	0	SYNE1	152779222	1.000000	0.71417	0.894000	0.35097	0.480000	0.33159	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CAG	.		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	152793441	152793441	+	Silent	SNP	G	G	C	rs373091521		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:152793441G>C	ENST00000367255.5	-	15	2059	c.1458C>G	c.(1456-1458)gcC>gcG	p.A486A	SYNE1_ENST00000367253.4_Silent_p.A486A|SYNE1_ENST00000495090.2_Silent_p.A53A|SYNE1_ENST00000413186.2_Silent_p.A486A|SYNE1_ENST00000341594.5_Silent_p.A493A|SYNE1_ENST00000367248.3_Silent_p.A476A|SYNE1_ENST00000265368.4_Silent_p.A486A|SYNE1_ENST00000423061.1_Silent_p.A493A|SYNE1_ENST00000448038.1_Silent_p.A493A|SYNE1_ENST00000466159.2_Silent_p.A486A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	486					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTACCTCTCGGCCATGTCCT	0.378										HNSCC(10;0.0054)																											p.A493A		.											.	SYNE1-607	0			c.C1479G						.						114.0	107.0	109.0					6																	152793441		2203	4300	6503	SO:0001819	synonymous_variant	23345	exon15			CCTCTCGGCCATG	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1458C>G	6.37:g.152793441G>C		92	0		112	35	NM_033071	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																			.		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
MYCT1	80177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	153042879	153042879	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:153042879G>T	ENST00000367245.5	+	2	207	c.199G>T	c.(199-201)Gac>Tac	p.D67Y	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	67						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGTTTCAGAGGACCTTATCAT	0.363																																					p.D67Y		.											.	MYCT1-91	0			c.G199T						.						115.0	105.0	109.0					6																	153042879		2203	4300	6503	SO:0001583	missense	80177	exon2			TCAGAGGACCTTA	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.199G>T	6.37:g.153042879G>T	ENSP00000356214:p.Asp67Tyr	46	0		62	30	NM_025107	0	0	0	0	0	Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.28|15.28	2.787606|2.787606	0.49997|0.49997	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.35973|.	1.28|.	5.86|5.86	5.0|5.0	0.66597|0.66597	.|.	0.414140|.	0.28382|.	N|.	0.015547|.	T|T	0.50394|0.50394	0.1613|0.1613	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D|.	0.56035|.	0.974;0.974|.	P;P|.	0.51135|.	0.66;0.66|.	T|T	0.52808|0.52808	-0.8526|-0.8526	10|5	0.72032|.	D|.	0.01|.	-12.9647|-12.9647	10.7769|10.7769	0.46354|0.46354	0.0744:0.1676:0.758:0.0|0.0744:0.1676:0.758:0.0	.|.	19;67|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	Y|S	67|47	ENSP00000356214:D67Y|.	ENSP00000356214:D67Y|.	D|R	+|+	1|3	0|2	MYCT1|MYCT1	153084572|153084572	0.996000|0.996000	0.38824|0.38824	0.989000|0.989000	0.46669|0.46669	0.992000|0.992000	0.81027|0.81027	1.745000|1.745000	0.38278|0.38278	1.484000|1.484000	0.48361|0.48361	0.637000|0.637000	0.83480|0.83480	GAC|AGG	.		0.363	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107	
IPCEF1	26034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	154587053	154587053	+	Missense_Mutation	SNP	C	C	A	rs139019503		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:154587053C>A	ENST00000265198.4	-	3	184	c.29G>T	c.(28-30)aGt>aTt	p.S10I	IPCEF1_ENST00000367220.4_Missense_Mutation_p.S10I|IPCEF1_ENST00000422970.2_Missense_Mutation_p.S10I	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	10					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TACAAGAGCACTGCCATCAAT	0.328																																					p.S10I		.											.	IPCEF1-90	0			c.G29T						.						152.0	158.0	156.0					6																	154587053		2203	4300	6503	SO:0001583	missense	26034	exon4			AGAGCACTGCCAT	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.29G>T	6.37:g.154587053C>A	ENSP00000265198:p.Ser10Ile	120	0		119	44	NM_001130699	0	0	0	0	0	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	C	3.672	-0.067274	0.07273	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000520261	T;T;T	0.15718	2.4;2.42;2.42	4.68	0.0265	0.14150	.	0.449617	0.20193	N	0.097270	T	0.02807	0.0084	N	0.08118	0	0.38325	D	0.943636	B;P	0.40794	0.01;0.729	B;B	0.38803	0.011;0.282	T	0.46219	-0.9207	10	0.51188	T	0.08	0.0	7.2467	0.26125	0.0:0.4884:0.0:0.5116	.	10;10	Q8WWN9;Q8WWN9-2	ICEF1_HUMAN;.	I	10	ENSP00000265198:S10I;ENSP00000394751:S10I;ENSP00000356189:S10I	ENSP00000265198:S10I	S	-	2	0	IPCEF1	154628745	0.733000	0.28132	0.017000	0.16124	0.640000	0.38277	0.166000	0.16583	-0.143000	0.11334	-0.345000	0.07892	AGT	C|1.000;T|0.000		0.328	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699	
TIAM2	26230	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	155450837	155450837	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:155450837A>T	ENST00000461783.3	+	6	1753	c.480A>T	c.(478-480)cgA>cgT	p.R160R	TIAM2_ENST00000529824.2_Silent_p.R160R|TIAM2_ENST00000360366.4_Silent_p.R160R|TIAM2_ENST00000456144.1_Silent_p.R160R|TIAM2_ENST00000318981.5_Silent_p.R160R|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	160					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAGCCCCCGAGTGCTCATCA	0.582																																					p.R160R		.											.	TIAM2-93	0			c.A480T						.						45.0	46.0	45.0					6																	155450837		2203	4300	6503	SO:0001819	synonymous_variant	26230	exon3			CCCCCGAGTGCTC		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.480A>T	6.37:g.155450837A>T		62	1		60	20	NM_012454	0	0	0	0	0	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																			.		0.582	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
TIAM2	26230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	155458506	155458506	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:155458506C>G	ENST00000461783.3	+	7	2663	c.1390C>G	c.(1390-1392)Cga>Gga	p.R464G	TIAM2_ENST00000529824.2_Missense_Mutation_p.R464G|TIAM2_ENST00000360366.4_Missense_Mutation_p.R464G|TIAM2_ENST00000456144.1_Missense_Mutation_p.R464G|TIAM2_ENST00000318981.5_Missense_Mutation_p.R464G|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	464					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAATTTCATGCGAGAGTTGGA	0.512																																					p.R464G		.											.	TIAM2-93	0			c.C1390G						.						104.0	112.0	109.0					6																	155458506		2203	4300	6503	SO:0001583	missense	26230	exon4			TTCATGCGAGAGT		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1390C>G	6.37:g.155458506C>G	ENSP00000437188:p.Arg464Gly	130	0		120	36	NM_012454	0	0	0	0	0	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461470	0.63513	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.08984	3.12;3.03;3.09;3.12;3.16;3.09	6.08	5.2	0.72013	.	0.060275	0.64402	D	0.000004	T	0.10078	0.0247	M	0.75264	2.295	0.80722	D	1	B	0.33583	0.418	B	0.39738	0.308	T	0.00950	-1.1503	10	0.87932	D	0	.	16.7505	0.85484	0.1303:0.8697:0.0:0.0	.	464	Q8IVF5	TIAM2_HUMAN	G	464;710;464;464;464;464;464	ENSP00000437188:R464G;ENSP00000434901:R464G;ENSP00000407746:R464G;ENSP00000327315:R464G;ENSP00000353528:R464G;ENSP00000433348:R464G	ENSP00000327315:R464G	R	+	1	2	TIAM2	155500198	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	2.365000	0.44196	1.561000	0.49584	0.655000	0.94253	CGA	.		0.512	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
NOX3	50508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	155764494	155764494	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:155764494C>A	ENST00000159060.2	-	5	501	c.399G>T	c.(397-399)gaG>gaT	p.E133D		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	133	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCTGGGCCTCCTCGGACTGGC	0.582																																					p.E133D		.											.	NOX3-91	0			c.G399T						.						101.0	85.0	91.0					6																	155764494		2203	4300	6503	SO:0001583	missense	50508	exon5			GGCCTCCTCGGAC	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.399G>T	6.37:g.155764494C>A	ENSP00000159060:p.Glu133Asp	189	0		218	85	NM_015718	0	0	0	0	0	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	4.364	0.067166	0.08388	.	.	ENSG00000074771	ENST00000159060	D	0.95554	-3.74	5.52	-4.62	0.03370	Flavoprotein transmembrane component (1);	1.039460	0.07548	N	0.914879	T	0.73426	0.3585	N	0.19112	0.55	0.09310	N	1	B	0.20887	0.049	B	0.18871	0.023	T	0.68830	-0.5305	10	0.14252	T	0.57	-0.5478	0.4619	0.00518	0.2043:0.2493:0.2025:0.3439	.	133	Q9HBY0	NOX3_HUMAN	D	133	ENSP00000159060:E133D	ENSP00000159060:E133D	E	-	3	2	NOX3	155806186	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.286000	0.01152	-0.521000	0.06426	0.561000	0.74099	GAG	.		0.582	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
ARID1B	57492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	157505500	157505500	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:157505500G>T	ENST00000350026.5	+	12	3443	c.3442G>T	c.(3442-3444)Gag>Tag	p.E1148*	ARID1B_ENST00000346085.5_Nonsense_Mutation_p.E1161*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.E1143*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.E1201*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1148					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACGTGGGGAGGAGCCCCCGCC	0.582																																					p.E1161X		.											.	ARID1B-154	0			c.G3481T						.						59.0	59.0	59.0					6																	157505500		2203	4296	6499	SO:0001587	stop_gained	57492	exon13			GGGGAGGAGCCCC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3442G>T	6.37:g.157505500G>T	ENSP00000055163:p.Glu1148*	141	0		187	75	NM_020732	0	0	0	0	0	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	39	7.505018	0.98325	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	1161;1148;1201;1143;618;670;623;215	.	ENSP00000275248:E1143X	E	+	1	0	ARID1B	157547192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.858000	0.99539	2.793000	0.96121	0.655000	0.94253	GAG	.		0.582	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
RSPH3	83861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	159401950	159401950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:159401950G>A	ENST00000252655.1	-	6	1330	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	RSPH3_ENST00000367069.2_Nonsense_Mutation_p.Q239*|RSPH3_ENST00000297262.3_Nonsense_Mutation_p.Q285*|RSPH3_ENST00000449822.1_Nonsense_Mutation_p.Q143*	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	381										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		ATTTCCCACTGCTGTTTCTTA	0.478																																					p.Q381X		.											.	RSPH3-92	0			c.C1141T						.						225.0	182.0	197.0					6																	159401950		2203	4300	6503	SO:0001587	stop_gained	83861	exon6			CCCACTGCTGTTT	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1141C>T	6.37:g.159401950G>A	ENSP00000252655:p.Gln381*	124	0		156	47	NM_031924	0	0	0	0	0	Q96LQ5|Q96LX2|Q9BX75	Nonsense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	G	38	6.679273	0.97755	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	.	.	.	5.65	5.65	0.86999	.	0.051353	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-31.8415	18.2981	0.90154	0.0:0.0:1.0:0.0	.	.	.	.	X	239;143;381;285	.	ENSP00000252655:Q381X	Q	-	1	0	RSPH3	159321938	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	9.039000	0.93777	2.660000	0.90430	0.467000	0.42956	CAG	.		0.478	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924	
FNDC1	84624	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	159646610	159646610	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:159646610T>A	ENST00000297267.9	+	8	1128	c.928T>A	c.(928-930)Tgg>Agg	p.W310R	FNDC1_ENST00000340366.6_Missense_Mutation_p.W310R|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	310	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATTGGCCAGGTGGGATTATAA	0.458																																					p.W310R		.											.	FNDC1-138	0			c.T928A						.						257.0	256.0	256.0					6																	159646610		1971	4156	6127	SO:0001583	missense	84624	exon8			GCCAGGTGGGATT	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.928T>A	6.37:g.159646610T>A	ENSP00000297267:p.Trp310Arg	154	2		193	66	NM_032532	0	0	0	0	0	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.957618|3.957618	0.73902|0.73902	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.58652	.|0.32;0.32	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68622|0.68622	0.3021|0.3021	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.72714|0.72714	-0.4210|-0.4210	5|10	.|0.72032	.|D	.|0.01	-15.9351|-15.9351	16.2108|16.2108	0.82158|0.82158	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|310;310	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	E|R	268|310	.|ENSP00000297267:W310R;ENSP00000342460:W310R	.|ENSP00000297267:W310R	V|W	+|+	2|1	0|0	FNDC1|FNDC1	159566598|159566598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.595000|7.595000	0.82710|0.82710	2.232000|2.232000	0.73038|0.73038	0.533000|0.533000	0.62120|0.62120	GTG|TGG	.		0.458	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
IGF2R	3482	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	160468850	160468850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:160468850delC	ENST00000356956.1	+	17	2404	c.2256delC	c.(2254-2256)ttcfs	p.F752fs		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	752					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CCTACAACTTCCGGTGGTACA	0.552																																					p.F752fs		.											.	IGF2R-118	0			c.2256delC						.						106.0	97.0	100.0					6																	160468850		2203	4300	6503	SO:0001589	frameshift_variant	3482	exon17			CAACTTCCGGTGG	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2256delC	6.37:g.160468850delC	ENSP00000349437:p.Phe752fs	100	0		123	39	NM_000876	0	0	0	0	0	Q7Z7G9|Q96PT5	Frame_Shift_Del	DEL	ENST00000356956.1	37	CCDS5273.1																																																																																			.		0.552	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
IGF2R	3482	hgsc.bcm.edu	37	6	160468851	160468852	+	Frame_Shift_Del	DEL	CG	CG	-	rs141234361|rs146539241		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:160468851_160468852delCG	ENST00000356956.1	+	17	2405_2406	c.2257_2258delCG	c.(2257-2259)cggfs	p.R753fs		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTACAACTTCCGGTGGTACACC	0.55																																					p.753_753del		.											.	IGF2R-118	0			c.2257_2258del						.																																			SO:0001589	frameshift_variant	3482	exon17			AACTTCCGGTGGT	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2257_2258delCG	6.37:g.160468851_160468852delCG	ENSP00000349437:p.Arg753fs	100	0		120	0	NM_000876	0	0	0	0	0	Q7Z7G9|Q96PT5	Frame_Shift_Del	DEL	ENST00000356956.1	37	CCDS5273.1																																																																																			.		0.550	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
IGF2R	3482	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	6	160468852	160468852	+	Missense_Mutation	SNP	G	G	T	rs141234361		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:160468852G>T	ENST00000356956.1	+	17	2406	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TACAACTTCCGGTGGTACACC	0.552																																					p.R753L		.											.	IGF2R-118	0			c.G2258T						.						109.0	98.0	102.0					6																	160468852		2203	4300	6503	SO:0001583	missense	3482	exon17			ACTTCCGGTGGTA	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2258G>T	6.37:g.160468852G>T	ENSP00000349437:p.Arg753Leu	100	0		121	40	NM_000876	0	0	0	0	0	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147390	0.77888	.	.	ENSG00000197081	ENST00000356956	T	0.02121	4.44	5.14	5.14	0.70334	Mannose-6-phosphate receptor, binding (1);	0.225102	0.42420	D	0.000716	T	0.04815	0.0130	M	0.77616	2.38	0.40204	D	0.977543	D	0.65815	0.995	P	0.60068	0.868	T	0.14144	-1.0483	10	0.45353	T	0.12	-11.437	8.8209	0.35025	0.2101:0.0:0.7899:0.0	.	753	P11717	MPRI_HUMAN	L	753	ENSP00000349437:R753L	ENSP00000349437:R753L	R	+	2	0	IGF2R	160388842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.874000	0.39568	2.407000	0.81776	0.561000	0.74099	CGG	G|1.000;A|0.000		0.552	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
PLG	5340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	161134147	161134147	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:161134147T>A	ENST00000308192.9	+	5	600	c.537T>A	c.(535-537)ctT>ctA	p.L179L	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	179	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCGACATTCTTGAGTGTGAAG	0.448																																					p.L179L		.											.	PLG-94	0			c.T537A						.						137.0	132.0	133.0					6																	161134147		2203	4300	6503	SO:0001819	synonymous_variant	5340	exon5			CATTCTTGAGTGT	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.537T>A	6.37:g.161134147T>A		100	0		137	46	NM_000301	0	0	0	0	0	Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																			.		0.448	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
PDE10A	10846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	165801852	165801852	+	Missense_Mutation	SNP	C	C	A	rs560876640		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:165801852C>A	ENST00000366882.1	-	18	1871	c.1717G>T	c.(1717-1719)Gcc>Tcc	p.A573S	PDE10A_ENST00000354448.4_Missense_Mutation_p.A573S|PDE10A_ENST00000539869.2_Missense_Mutation_p.A583S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	573					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TAGAGAGCGGCCAGAGGGTGG	0.547																																					p.A583S	Esophageal Squamous(22;308 615 5753 12038 40624)	.											.	PDE10A-519	0			c.G1747T						.						140.0	114.0	123.0					6																	165801852		2203	4300	6503	SO:0001583	missense	10846	exon17			GAGCGGCCAGAGG	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1717G>T	6.37:g.165801852C>A	ENSP00000355847:p.Ala573Ser	130	0		177	55	NM_001130690	0	0	0	0	0	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	C	18.33	3.599643	0.66332	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.83837	-1.77;-1.77	5.89	5.89	0.94794	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.86977	0.6063	L	0.56769	1.78	0.80722	D	1	B;P	0.41214	0.119;0.742	B;P	0.54965	0.177;0.765	D	0.86125	0.1571	10	0.56958	D	0.05	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	583;573	Q9ULW9;Q9Y233	.;PDE10_HUMAN	S	573;601;583;573;572	ENSP00000355847:A573S;ENSP00000346435:A573S	ENSP00000341187:A583S	A	-	1	0	PDE10A	165721842	1.000000	0.71417	0.288000	0.24862	0.162000	0.22319	7.207000	0.77899	2.797000	0.96272	0.563000	0.77884	GCC	.		0.547	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		
T	6862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	166580287	166580287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:166580287G>T	ENST00000296946.2	-	3	732	c.264C>A	c.(262-264)taC>taA	p.Y88*	T_ENST00000366871.3_Nonsense_Mutation_p.Y88*	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	88					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCAGGAAGGAGTACATGGCGT	0.662									Chordoma, Familial Clustering of																												p.Y88X		.											.	T-516	0			c.C264A						.						68.0	59.0	62.0					6																	166580287		2203	4300	6503	SO:0001587	stop_gained	6862	exon3	Familial Cancer Database		GAAGGAGTACATG	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.264C>A	6.37:g.166580287G>T	ENSP00000296946:p.Tyr88*	135	0		225	81	NM_003181	0	0	0	0	0	E7ERD6|Q4KMP4	Nonsense_Mutation	SNP	ENST00000296946.2	37	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	37	6.493523	0.97612	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	.	.	.	4.62	1.8	0.24995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7222	0.40311	0.2291:0.0:0.7709:0.0	.	.	.	.	X	88	.	ENSP00000296946:Y88X	Y	-	3	2	T	166500277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.944000	0.29043	0.131000	0.18576	0.655000	0.94253	TAC	.		0.662	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181	
UNC93A	54346	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	167721323	167721323	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:167721323G>T	ENST00000230256.3	+	7	1208	c.1033G>T	c.(1033-1035)Gac>Tac	p.D345Y	UNC93A_ENST00000366829.2_Missense_Mutation_p.D303Y	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	345						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCTCGTGCTGACCATCTGGC	0.617																																					p.D345Y		.											.	UNC93A-90	0			c.G1033T						.						147.0	109.0	122.0					6																	167721323		2203	4300	6503	SO:0001583	missense	54346	exon7			CGTGCTGACCATC	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1033G>T	6.37:g.167721323G>T	ENSP00000230256:p.Asp345Tyr	186	1		204	70	NM_018974	0	0	0	0	0	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	6.116	0.389659	0.11581	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.19532	2.14;2.14	4.56	-9.11	0.00711	Major facilitator superfamily domain, general substrate transporter (1);	1.952780	0.02821	N	0.125560	T	0.07863	0.0197	M	0.70595	2.14	0.09310	N	1	B;P	0.36483	0.215;0.555	B;B	0.38985	0.071;0.287	T	0.10894	-1.0610	10	0.51188	T	0.08	-1.2556	3.4413	0.07465	0.4613:0.2659:0.1842:0.0886	.	303;345	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	Y	345;303	ENSP00000230256:D345Y;ENSP00000355794:D303Y	ENSP00000230256:D345Y	D	+	1	0	UNC93A	167641313	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.322000	0.08007	-2.392000	0.00585	-0.302000	0.09304	GAC	.		0.617	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974	
TTLL2	83887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	167755029	167755029	+	Missense_Mutation	SNP	A	A	T	rs111648937		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:167755029A>T	ENST00000239587.5	+	3	1729	c.1641A>T	c.(1639-1641)aaA>aaT	p.K547N		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	547					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCGTGGCAAAGCTCCAGATC	0.512																																					p.K547N		.											.	TTLL2-92	0			c.A1641T						.						117.0	106.0	110.0					6																	167755029		2203	4300	6503	SO:0001583	missense	83887	exon3			TGGCAAAGCTCCA	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1641A>T	6.37:g.167755029A>T	ENSP00000239587:p.Lys547Asn	113	0		165	54	NM_031949	0	0	0	0	0	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345882	0.24426	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02525	4.26	4.04	-6.63	0.01807	.	1.474540	0.04579	N	0.394692	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.47182	-0.9137	10	0.16896	T	0.51	.	9.2132	0.37331	0.6419:0.1137:0.2444:0.0	.	547	Q9BWV7	TTLL2_HUMAN	N	547;474	ENSP00000239587:K547N	ENSP00000239587:K547N	K	+	3	2	TTLL2	167675019	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.586000	0.02110	-1.522000	0.01769	-0.415000	0.06103	AAA	.		0.512	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949	
KIF25	3834	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	168442775	168442775	+	Missense_Mutation	SNP	C	C	T	rs138311357	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:168442775C>T	ENST00000443060.2	+	8	1164	c.773C>T	c.(772-774)gCg>gTg	p.A258V	KIF25_ENST00000351261.3_Missense_Mutation_p.A258V|KIF25_ENST00000354419.2_Missense_Mutation_p.A258V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	258	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCAGGGCATGCGGAGCAGGTG	0.662																																					p.A258V		.											.	KIF25-92	0			c.C773T						.						24.0	23.0	23.0					6																	168442775		2139	4204	6343	SO:0001583	missense	3834	exon7			GGCATGCGGAGCA	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.773C>T	6.37:g.168442775C>T	ENSP00000388878:p.Ala258Val	182	1		219	33	NM_030615	0	0	0	0	0	O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	C	0.136	-1.107687	0.01813	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.73152	-0.72;-0.72;0.01	3.9	-7.8	0.01214	Kinesin, motor domain (4);	5.378250	0.00166	N	0.000003	T	0.17577	0.0422	N	0.10664	0.02	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.001;0.004	T	0.23726	-1.0180	10	0.62326	D	0.03	-11.7612	2.5803	0.04816	0.2389:0.093:0.3957:0.2725	.	258;258	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	V	258	ENSP00000388878:A258V;ENSP00000346401:A258V;ENSP00000252688:A258V	ENSP00000252688:A258V	A	+	2	0	KIF25	168185624	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.398000	0.00484	-5.651000	0.00011	-3.450000	0.00036	GCG	C|0.999;A|0.001		0.662	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1		
THBS2	7058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	169629675	169629675	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:169629675C>A	ENST00000366787.3	-	15	2500	c.2251G>T	c.(2251-2253)Gat>Tat	p.D751Y	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	751					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACCTTCTCATCGGTCACACCG	0.562																																					p.D751Y	Esophageal Squamous(91;219 1934 18562 44706)	.											.	THBS2-95	0			c.G2251T						.						177.0	155.0	162.0					6																	169629675		2203	4300	6503	SO:0001583	missense	7058	exon15			TCTCATCGGTCAC		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2251G>T	6.37:g.169629675C>A	ENSP00000355751:p.Asp751Tyr	69	0		97	31	NM_003247	0	0	0	0	0	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084619	0.36758	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.99252	-5.63	4.51	4.51	0.55191	.	0.164580	0.27773	U	0.017916	D	0.98760	0.9583	M	0.87097	2.86	0.58432	D	0.999999	B	0.28350	0.208	B	0.36092	0.217	D	0.99966	1.1866	10	0.87932	D	0	-30.9776	17.201	0.86906	0.0:1.0:0.0:0.0	.	751	P35442	TSP2_HUMAN	Y	751;9	ENSP00000355751:D751Y	ENSP00000355751:D751Y	D	-	1	0	THBS2	169371600	1.000000	0.71417	0.545000	0.28153	0.017000	0.09413	7.257000	0.78362	2.211000	0.71520	0.579000	0.79373	GAT	.		0.562	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
MAD1L1	8379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	1976421	1976421	+	Missense_Mutation	SNP	C	C	A	rs373540167		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:1976421C>A	ENST00000406869.1	-	17	2266	c.1709G>T	c.(1708-1710)cGa>cTa	p.R570L	MAD1L1_ENST00000399654.2_Missense_Mutation_p.R570L|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R478L|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R570L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	570					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCCGCGCAGTCGCTCGCACTC	0.687																																					p.R570L		.											.	MAD1L1-1083	0			c.G1709T						.						16.0	21.0	19.0					7																	1976421		2123	4191	6314	SO:0001583	missense	8379	exon17			CGCAGTCGCTCGC	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1709G>T	7.37:g.1976421C>A	ENSP00000385334:p.Arg570Leu	18	0		117	40	NM_003550	0	0	0	0	0	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267900	0.40095	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7	4.77	1.43	0.22495	.	0.399810	0.26650	N	0.023214	T	0.22044	0.0531	L	0.59436	1.845	0.30140	N	0.804037	P;P;P	0.39404	0.672;0.672;0.582	B;B;B	0.38327	0.271;0.196;0.151	T	0.10177	-1.0641	10	0.35671	T	0.21	-29.0411	7.3823	0.26862	0.0:0.5878:0.0:0.4122	.	569;478;570	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	L	478;570;570;121;570;121;26	ENSP00000384155:R478L;ENSP00000382562:R570L;ENSP00000385334:R570L;ENSP00000265854:R570L;ENSP00000394886:R121L;ENSP00000394069:R26L	ENSP00000265854:R570L	R	-	2	0	MAD1L1	1942947	0.431000	0.25546	0.694000	0.30210	0.635000	0.38103	0.763000	0.26517	0.442000	0.26555	0.555000	0.69702	CGA	.		0.687	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550	
CARD11	84433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	2976779	2976779	+	Missense_Mutation	SNP	C	C	A	rs375944730		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:2976779C>A	ENST00000396946.4	-	9	1636	c.1233G>T	c.(1231-1233)gaG>gaT	p.E411D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	411					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGTTCTTCTCCTCCAGCTCGC	0.582			Mis		DLBCL																																p.E411D		.		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	.	CARD11-870	0			c.G1233T						.						188.0	152.0	164.0					7																	2976779		2203	4300	6503	SO:0001583	missense	84433	exon9			CTTCTCCTCCAGC	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1233G>T	7.37:g.2976779C>A	ENSP00000380150:p.Glu411Asp	157	0		145	40	NM_032415	0	0	0	0	0	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140380	0.77775	.	.	ENSG00000198286	ENST00000396946	T	0.35789	1.29	5.22	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	L	0.43923	1.385	0.53005	D	0.999961	D	0.67145	0.996	D	0.63283	0.913	T	0.30966	-0.9960	10	0.31617	T	0.26	-36.4501	13.1398	0.59428	0.0:0.9226:0.0:0.0774	.	411	Q9BXL7	CAR11_HUMAN	D	411	ENSP00000380150:E411D	ENSP00000380150:E411D	E	-	3	2	CARD11	2943305	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.093000	0.41710	1.220000	0.43490	-0.224000	0.12420	GAG	.		0.582	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
CARD11	84433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	2978414	2978414	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:2978414C>G	ENST00000396946.4	-	7	1319	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	306					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGTCGTGTTCCAAGATGTCC	0.647			Mis		DLBCL																																p.E306Q		.		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	.	CARD11-870	0			c.G916C						.						84.0	69.0	74.0					7																	2978414		2203	4300	6503	SO:0001583	missense	84433	exon7			CGTGTTCCAAGAT	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.916G>C	7.37:g.2978414C>G	ENSP00000380150:p.Glu306Gln	61	0		75	13	NM_032415	0	0	0	0	0	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	30	5.057375	0.93846	.	.	ENSG00000198286	ENST00000396946	T	0.40225	1.04	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.53249	1.67	0.80722	D	1	P	0.51147	0.942	P	0.54924	0.764	T	0.55016	-0.8206	10	0.59425	D	0.04	-38.7428	18.8613	0.92273	0.0:1.0:0.0:0.0	.	306	Q9BXL7	CAR11_HUMAN	Q	306	ENSP00000380150:E306Q	ENSP00000380150:E306Q	E	-	1	0	CARD11	2944940	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.646000	0.83445	2.690000	0.91761	0.591000	0.81541	GAA	.		0.647	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
TNRC18	84629	hgsc.bcm.edu	37	7	5372406	5372406	+	Silent	SNP	G	G	T	rs13238738	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:5372406G>T	ENST00000430969.1	-	19	6342	c.5994C>A	c.(5992-5994)cgC>cgA	p.R1998R	TNRC18_ENST00000399537.4_Silent_p.R1998R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1998							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCGCTCGCTGCGGCGCCGCG	0.756													G|||	2646	0.528355	0.3601	0.4352	5008	,	,		9503	0.7063		0.673	False		,,,				2504	0.4898				p.R1998R		.											.	TNRC18-46	0			c.C5994A						.	G		1260,1040		370,520,260	2.0	3.0	3.0		5994	2.1	1.0	7	dbSNP_121	3	3787,1581		1438,911,335	no	coding-synonymous	TNRC18	NM_001080495.2		1808,1431,595	TT,TG,GG		29.4523,45.2174,34.181		1998/2969	5372406	5047,2621	1150	2684	3834	SO:0001819	synonymous_variant	84629	exon19			CTCGCTGCGGCGC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5994C>A	7.37:g.5372406G>T		0	0		9	5	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	CCDS47534.1	1284	0.5879120879120879	197	0.40040650406504064	170	0.4696132596685083	415	0.7255244755244755	502	0.662269129287599	.	11.77	1.738038	0.30774	0.547826	0.705477	ENSG00000182095	ENST00000455076	.	.	.	4.14	2.1	0.27182	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999956	.	.	.	.	.	.	T	0.35425	-0.9789	3	.	.	.	.	12.3787	0.55295	0.0:0.4664:0.5335:0.0	rs13238738	.	.	.	E	35	.	.	A	-	2	0	TNRC18	5338932	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.427000	0.21379	0.648000	0.30732	0.555000	0.69702	GCA	G|0.411;T|0.589		0.756	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
TNRC18	84629	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	5401321	5401321	+	Missense_Mutation	SNP	G	G	A	rs374589169		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:5401321G>A	ENST00000430969.1	-	14	4913	c.4565C>T	c.(4564-4566)gCa>gTa	p.A1522V	TNRC18_ENST00000399537.4_Missense_Mutation_p.A1522V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1522							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTCTGCGTGCCAAGCTTCT	0.672																																					p.A1522V		.											.	TNRC18-46	0			c.C4565T						.	G	VAL/ALA	0,3086		0,0,1543	31.0	33.0	32.0		4565	4.8	1.0	7		32	1,7059		0,1,3529	no	missense	TNRC18	NM_001080495.2	64	0,1,5072	AA,AG,GG		0.0142,0.0,0.0099	benign	1522/2969	5401321	1,10145	1543	3530	5073	SO:0001583	missense	84629	exon14			CTGCGTGCCAAGC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4565C>T	7.37:g.5401321G>A	ENSP00000395538:p.Ala1522Val	12	0		73	18	NM_001080495	0	0	0	0	0	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817720	0.50633	0.0	1.42E-4	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.16743	2.33;2.32	4.84	4.84	0.62591	.	0.000000	0.34555	N	0.003871	T	0.19327	0.0464	M	0.62016	1.91	0.44523	D	0.997472	B	0.31968	0.349	B	0.28139	0.086	T	0.02491	-1.1151	10	0.48119	T	0.1	.	13.3925	0.60832	0.0787:0.0:0.9213:0.0	.	1522	O15417	TNC18_HUMAN	V	1522;1522;577	ENSP00000382452:A1522V;ENSP00000395538:A1522V	ENSP00000382452:A1522V	A	-	2	0	TNRC18	5367847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.738000	0.62073	2.225000	0.72522	0.561000	0.74099	GCA	.		0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
USP42	84132	hgsc.bcm.edu	37	7	6193521	6193521	+	Missense_Mutation	SNP	G	G	C	rs61729726	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	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		20	12	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	
GRID2IP	392862	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	6554007	6554007	+	Splice_Site	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:6554007T>A	ENST00000457091.2	-	8	1421	c.1422A>T	c.(1420-1422)acA>acT	p.T474T	GRID2IP_ENST00000452113.1_Splice_Site_p.T284T|GRID2IP_ENST00000435185.1_Splice_Site_p.T291T	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	474					long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						GACGCTTACCTGTCATGGCCG	0.562																																					p.T474T		.											.	.	0			c.A1422T						.						62.0	68.0	67.0					7																	6554007		692	1591	2283	SO:0001630	splice_region_variant	392862	exon8			CTTACCTGTCATG		CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.1423+1A>T	7.37:g.6554007T>A		46	0		27	11	NM_001145118	0	0	0	0	0		Silent	SNP	ENST00000457091.2	37	CCDS47537.1																																																																																			.		0.562	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340534.1	XM_294249	Silent
GRID2IP	392862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	6561558	6561558	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:6561558G>T	ENST00000457091.2	-	5	949	c.950C>A	c.(949-951)tCa>tAa	p.S317*	GRID2IP_ENST00000435185.1_Nonsense_Mutation_p.S134*|GRID2IP_ENST00000452113.1_Nonsense_Mutation_p.S127*	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	317	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						CCGGTCACCTGACTTGAGGGC	0.592																																					p.S317X		.											.	.	0			c.C950A						.						108.0	99.0	102.0					7																	6561558		692	1591	2283	SO:0001587	stop_gained	392862	exon5			TCACCTGACTTGA		CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.950C>A	7.37:g.6561558G>T	ENSP00000397351:p.Ser317*	95	0		104	30	NM_001145118	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000457091.2	37	CCDS47537.1	.	.	.	.	.	.	.	.	.	.	G	37	6.406637	0.97542	.	.	ENSG00000215045	ENST00000452113;ENST00000435185;ENST00000457091	.	.	.	5.04	4.16	0.48862	.	0.352868	0.26007	U	0.026908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	11.5916	0.50949	0.0878:0.0:0.9122:0.0	.	.	.	.	X	127;134;317	.	ENSP00000408364:S134X	S	-	2	0	GRID2IP	6528083	1.000000	0.71417	0.850000	0.33497	0.998000	0.95712	7.513000	0.81739	1.278000	0.44430	0.555000	0.69702	TCA	.		0.592	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340534.1	XM_294249	
THSD7A	221981	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	11419313	11419313	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:11419313C>T	ENST00000423059.4	-	25	4785	c.4534G>A	c.(4534-4536)Gat>Aat	p.D1512N	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1512					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGTCGGCATCAGGCTGGCTC	0.458										HNSCC(18;0.044)																											p.D1512N		.											.	THSD7A-71	0			c.G4534A						.						73.0	72.0	72.0					7																	11419313		1999	4155	6154	SO:0001583	missense	221981	exon24			CGGCATCAGGCTG		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4534G>A	7.37:g.11419313C>T	ENSP00000406482:p.Asp1512Asn	127	0		86	21	NM_015204	0	0	0	0	0		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672797	0.47781	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58358	0.34	5.73	5.73	0.89815	.	0.143352	0.64402	D	0.000004	T	0.43787	0.1263	L	0.36672	1.1	0.37374	D	0.911745	B;B	0.30763	0.146;0.294	B;B	0.25759	0.063;0.063	T	0.41538	-0.9503	10	0.14656	T	0.56	.	19.8978	0.96973	0.0:1.0:0.0:0.0	.	1512;1512	Q9UPZ6;C9JL67	THS7A_HUMAN;.	N	1512	ENSP00000406482:D1512N	ENSP00000262042:D1512N	D	-	1	0	THSD7A	11385838	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.857000	0.48349	2.703000	0.92315	0.557000	0.71058	GAT	.		0.458	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
THSD7A	221981	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	11581087	11581087	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:11581087G>C	ENST00000423059.4	-	6	2032	c.1781C>G	c.(1780-1782)cCa>cGa	p.P594R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	594					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTGCGTGCCTGGACCACACTC	0.458										HNSCC(18;0.044)																											p.P594R		.											.	THSD7A-71	0			c.C1781G						.						113.0	112.0	113.0					7																	11581087		2019	4172	6191	SO:0001583	missense	221981	exon6			GTGCCTGGACCAC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1781C>G	7.37:g.11581087G>C	ENSP00000406482:p.Pro594Arg	264	1		216	51	NM_015204	0	0	0	0	0		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547130	0.45383	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58358	0.34	5.38	5.38	0.77491	.	0.049100	0.85682	D	0.000000	T	0.58206	0.2106	L	0.37897	1.145	0.80722	D	1	P	0.48694	0.914	P	0.55871	0.786	T	0.46148	-0.9212	10	0.15066	T	0.55	.	19.5048	0.95111	0.0:0.0:1.0:0.0	.	594	Q9UPZ6	THS7A_HUMAN	R	594	ENSP00000406482:P594R	ENSP00000262042:P594R	P	-	2	0	THSD7A	11547612	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.388000	0.97237	2.678000	0.91216	0.650000	0.86243	CCA	.		0.458	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
THSD7A	221981	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	11676331	11676331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:11676331delC	ENST00000423059.4	-	2	699	c.448delG	c.(448-450)gaafs	p.E151fs	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	151					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATACCTTCTTCCCCCTTAATG	0.483										HNSCC(18;0.044)																											p.E150fs		.											.	THSD7A-71	0			c.448delG						.						107.0	103.0	104.0					7																	11676331		1973	4176	6149	SO:0001589	frameshift_variant	221981	exon2			CTTCTTCCCCCTT		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.448delG	7.37:g.11676331delC	ENSP00000406482:p.Glu151fs	147	0		71	13	NM_015204	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000423059.4	37	CCDS47543.1																																																																																			.		0.483	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
VWDE	221806	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	12396973	12396973	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:12396973C>G	ENST00000275358.3	-	17	3631	c.3443G>C	c.(3442-3444)tGg>tCg	p.W1148S		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	1148						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						ATCTGTTTTCCACATAAAAAG	0.418																																					p.W1148S		.											.	VWDE-68	0			c.G3443C						.						108.0	95.0	99.0					7																	12396973		692	1591	2283	SO:0001583	missense	221806	exon17			GTTTTCCACATAA		CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.3443G>C	7.37:g.12396973C>G	ENSP00000275358:p.Trp1148Ser	54	0		64	21	NM_001135924	0	0	0	0	0	B7ZM77|Q96SQ3	Missense_Mutation	SNP	ENST00000275358.3	37	CCDS47544.1	.	.	.	.	.	.	.	.	.	.	c	16.95	3.262874	0.59431	.	.	ENSG00000146530	ENST00000275358;ENST00000536307	D	0.84873	-1.91	3.96	3.08	0.35506	.	0.000000	0.85682	D	0.000000	D	0.90779	0.7105	M	0.78456	2.415	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	D	0.89325	0.3643	10	0.35671	T	0.21	.	11.8056	0.52152	0.0:0.913:0.0:0.087	.	1148	Q8N2E2	VWDE_HUMAN	S	1148;602	ENSP00000275358:W1148S	ENSP00000275358:W1148S	W	-	2	0	VWDE	12363498	1.000000	0.71417	0.990000	0.47175	0.810000	0.45777	5.049000	0.64244	1.016000	0.39470	0.650000	0.86243	TGG	.		0.418	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325870.3	XM_371878	
VWDE	221806	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	12409933	12409933	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:12409933C>T	ENST00000275358.3	-	12	2187	c.1999G>A	c.(1999-2001)Gtc>Atc	p.V667I		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	667						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						TCGGAGGTGACATCTAGTTCT	0.363																																					p.V667I		.											.	VWDE-68	0			c.G1999A						.						38.0	30.0	32.0					7																	12409933		692	1590	2282	SO:0001583	missense	221806	exon12			AGGTGACATCTAG		CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.1999G>A	7.37:g.12409933C>T	ENSP00000275358:p.Val667Ile	63	0		35	6	NM_001135924	0	0	0	0	0	B7ZM77|Q96SQ3	Missense_Mutation	SNP	ENST00000275358.3	37	CCDS47544.1	.	.	.	.	.	.	.	.	.	.	C	1.834	-0.469113	0.04445	.	.	ENSG00000146530	ENST00000275358;ENST00000536307	D	0.82433	-1.61	4.93	-0.724	0.11177	.	.	.	.	.	T	0.51991	0.1707	N	0.00707	-1.245	0.19575	N	0.999965	B	0.10296	0.003	B	0.09377	0.004	T	0.45659	-0.9246	9	0.15499	T	0.54	.	9.5602	0.39364	0.0:0.4988:0.0:0.5012	.	667	Q8N2E2	VWDE_HUMAN	I	667;121	ENSP00000275358:V667I	ENSP00000275358:V667I	V	-	1	0	VWDE	12376458	0.985000	0.35326	0.964000	0.40570	0.157000	0.22087	0.095000	0.15127	-0.065000	0.13021	-0.137000	0.14449	GTC	.		0.363	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325870.3	XM_371878	
DGKB	1607	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	14661070	14661070	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:14661070T>A	ENST00000403951.2	-	15	1639	c.1220A>T	c.(1219-1221)aAc>aTc	p.N407I	DGKB_ENST00000402815.1_Missense_Mutation_p.N406I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.N399I|DGKB_ENST00000258767.5_Missense_Mutation_p.N407I|DGKB_ENST00000444700.2_Missense_Mutation_p.N388I|DGKB_ENST00000406247.3_Missense_Mutation_p.N407I|DGKB_ENST00000399322.3_Missense_Mutation_p.N407I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	407					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						AATCACTTTGTTTGGCTGCTG	0.308																																					p.N407I		.											.	DGKB-276	0			c.A1220T						.						141.0	123.0	128.0					7																	14661070		1831	4082	5913	SO:0001583	missense	1607	exon14			ACTTTGTTTGGCT	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1220A>T	7.37:g.14661070T>A	ENSP00000385780:p.Asn407Ile	61	0		34	9	NM_145695	0	0	0	0	0	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.906759	0.33628	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.79940	-1.23;-1.23;-1.23;-1.24;-1.24;-1.22;-1.32	4.86	4.86	0.63082	.	0.165860	0.40064	N	0.001189	T	0.77798	0.4184	L	0.58101	1.795	0.40058	D	0.975863	B;B;B;B	0.11235	0.001;0.0;0.001;0.004	B;B;B;B	0.10450	0.002;0.005;0.002;0.001	T	0.75363	-0.3344	10	0.44086	T	0.13	.	14.7365	0.69419	0.0:0.0:0.0:1.0	.	406;388;407;407	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	I	407;407;407;406;399;388;407	ENSP00000385780:N407I;ENSP00000382260:N407I;ENSP00000258767:N407I;ENSP00000384909:N406I;ENSP00000385031:N399I;ENSP00000388451:N388I;ENSP00000386066:N407I	ENSP00000258767:N407I	N	-	2	0	DGKB	14627595	1.000000	0.71417	0.997000	0.53966	0.799000	0.45148	3.045000	0.49838	1.943000	0.56356	0.260000	0.18958	AAC	.		0.308	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
DGKB	1607	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	14775769	14775769	+	Silent	SNP	G	G	T	rs10238323	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:14775769G>T	ENST00000403951.2	-	5	638	c.219C>A	c.(217-219)gcC>gcA	p.A73A	DGKB_ENST00000402815.1_Silent_p.A73A|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Silent_p.A66A|DGKB_ENST00000258767.5_Silent_p.A73A|DGKB_ENST00000444700.2_Silent_p.A66A|DGKB_ENST00000406247.3_Silent_p.A73A|DGKB_ENST00000399322.3_Silent_p.A73A			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	73					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CAGGAAGCTCGGCTTCCAGGA	0.353																																					p.A73A		.											.	DGKB-276	0			c.C219A						.						58.0	57.0	57.0					7																	14775769		1827	4091	5918	SO:0001819	synonymous_variant	1607	exon4			AAGCTCGGCTTCC	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.219C>A	7.37:g.14775769G>T		146	0		104	22	NM_145695	0	0	0	0	0	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	CCDS47547.1																																																																																			G|0.984;A|0.016		0.353	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
HDAC9	9734	hgsc.bcm.edu;bcgsc.ca	37	7	18869083	18869083	+	Splice_Site	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:18869083delG	ENST00000432645.2	+	18	2369		c.e18-1		HDAC9_ENST00000401921.1_Splice_Site|HDAC9_ENST00000441542.2_Splice_Site|HDAC9_ENST00000406451.4_Splice_Site	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTATTCCGCAGGGGGTTCTGC	0.333																																					.		.											.	HDAC9-227	0			c.2370-1G>-						.						82.0	76.0	78.0					7																	18869083		1812	4084	5896	SO:0001630	splice_region_variant	9734	exon19			TCCGCAGGGGGTT	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2370-1G>-	7.37:g.18869083delG		54	1		33	14	NM_178423	0	0	0	0	0	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Splice_Site	DEL	ENST00000432645.2	37	CCDS47555.1																																																																																			.		0.333	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		Intron
TMEM196	256130	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	19765212	19765212	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:19765212T>A	ENST00000405764.3	-	3	1080	c.384A>T	c.(382-384)ctA>ctT	p.L128L	TMEM196_ENST00000422233.1_Silent_p.L60L|TMEM196_ENST00000405844.1_Silent_p.L128L|TMEM196_ENST00000493519.1_Silent_p.L60L|TMEM196_ENST00000433641.1_Silent_p.L60L	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	134						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						CATAACTGGCTAGTCGACAAG	0.502																																					p.L128L		.											.	TMEM196-22	0			c.A384T						.						83.0	74.0	77.0					7																	19765212		2203	4300	6503	SO:0001819	synonymous_variant	256130	exon3			ACTGGCTAGTCGA		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.384A>T	7.37:g.19765212T>A		220	1		153	49	NM_152774	0	0	0	0	0	Q8N6I6	Silent	SNP	ENST00000405764.3	37	CCDS34607.2																																																																																			.		0.502	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774	
ITGB8	3696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	20444293	20444293	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:20444293G>C	ENST00000222573.4	+	11	2414	c.1730G>C	c.(1729-1731)gGc>gCc	p.G577A	ITGB8_ENST00000537992.1_Missense_Mutation_p.G442A	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	577	Cysteine-rich tandem repeats.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGCTTCAGTGGCTGGGAAGGT	0.532																																					p.G577A		.											.	ITGB8-227	0			c.G1730C						.						116.0	95.0	102.0					7																	20444293		2203	4300	6503	SO:0001583	missense	3696	exon11			TCAGTGGCTGGGA		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1730G>C	7.37:g.20444293G>C	ENSP00000222573:p.Gly577Ala	223	0		152	36	NM_002214	0	0	0	0	0	A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585402	0.86748	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.97114	-4.25;-4.25	5.77	5.77	0.91146	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.070566	0.64402	D	0.000014	D	0.98242	0.9418	M	0.90082	3.085	0.53005	D	0.999966	D	0.56746	0.977	P	0.59703	0.862	D	0.98316	1.0526	10	0.87932	D	0	.	11.7466	0.51823	0.0684:0.125:0.8066:0.0	.	577	P26012	ITB8_HUMAN	A	442;577	ENSP00000441561:G442A;ENSP00000222573:G577A	ENSP00000222573:G577A	G	+	2	0	ITGB8	20410818	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.947000	0.63583	2.890000	0.99128	0.650000	0.86243	GGC	.		0.532	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	
SP8	221833	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	20824578	20824578	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:20824578G>A	ENST00000361443.4	-	3	1041	c.804C>T	c.(802-804)tcC>tcT	p.S268S	SP8_ENST00000418710.2_Silent_p.S286S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	268					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCAGGTGCGAGGAGGCGCCGC	0.716																																					p.S286S		.											.	SP8-91	0			c.C858T						.						4.0	4.0	4.0					7																	20824578		1762	3628	5390	SO:0001819	synonymous_variant	221833	exon2			GTGCGAGGAGGCG		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.804C>T	7.37:g.20824578G>A		32	0		30	6	NM_182700	0	0	0	0	0	Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	37	CCDS5372.1																																																																																			.		0.716	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2		
DNAH11	8701	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	21789958	21789958	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:21789958G>T	ENST00000409508.3	+	54	8947	c.8916G>T	c.(8914-8916)atG>atT	p.M2972I	DNAH11_ENST00000328843.6_Missense_Mutation_p.M2979I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2979	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATTCTTTATGGCCAGGGTGC	0.388									Kartagener syndrome																												.		.											.	DNAH11-146	0			.						.						57.0	55.0	56.0					7																	21789958		1874	4104	5978	SO:0001583	missense	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CTTTATGGCCAGG	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8916G>T	7.37:g.21789958G>T	ENSP00000475939:p.Met2972Ile	85	0		60	11	.	0	0	0	0	0	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	0.603	-0.828327	0.02734	.	.	ENSG00000105877	ENST00000328843	T	0.31247	1.5	5.91	4.11	0.48088	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	1.768260	0.05443	U	0.548026	T	0.13586	0.0329	.	.	.	0.20638	N	0.999872	B	0.02656	0.0	B	0.06405	0.002	T	0.26360	-1.0105	9	0.02654	T	1	.	6.8428	0.23973	0.1978:0.0:0.6715:0.1306	.	2979	Q96DT5	DYH11_HUMAN	I	2979	ENSP00000330671:M2979I	ENSP00000330671:M2979I	M	+	3	0	DNAH11	21756483	0.998000	0.40836	0.988000	0.46212	0.713000	0.41058	0.518000	0.22847	1.506000	0.48736	0.655000	0.94253	ATG	.		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
IGF2BP3	10643	ucsc.edu;bcgsc.ca	37	7	23390952	23390952	+	Silent	SNP	G	G	T	rs274055	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:23390952G>T	ENST00000258729.3	-	6	1011	c.655C>A	c.(655-657)Cgg>Agg	p.R219R	IGF2BP3_ENST00000491719.1_5'Flank	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	219	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTGATGTTCCGAATGGTGGCA	0.483													G|||	257	0.0513179	0.0794	0.0533	5008	,	,		18677	0.0089		0.0149	False		,,,				2504	0.093				p.R219R		.											.	IGF2BP3-92	0			c.C655A						.	G		332,4074	172.3+/-202.3	20,292,1891	122.0	109.0	113.0		655	5.9	1.0	7	dbSNP_79	113	186,8414	83.1+/-145.7	0,186,4114	no	coding-synonymous	IGF2BP3	NM_006547.2		20,478,6005	TT,TG,GG		2.1628,7.5352,3.9828		219/580	23390952	518,12488	2203	4300	6503	SO:0001819	synonymous_variant	10643	exon6			TGTTCCGAATGGT	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.655C>A	7.37:g.23390952G>T		140	0		105	25	NM_006547	0	0	0	0	0	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	CCDS5382.1																																																																																			G|1.000;|0.000		0.483	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	
MPP6	51678	bcgsc.ca	37	7	24663284	24663284	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:24663284G>T	ENST00000222644.5	+	2	248		c.e2-1		MPP6_ENST00000396475.2_Splice_Site|MPP6_ENST00000409761.1_Intron			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)						maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATCTCAGCAGCAATGCAGCA	0.363																																					.		.											.	MPP6-90	0			.						.						36.0	36.0	36.0					7																	24663284		2203	4300	6503	SO:0001630	splice_region_variant	51678	.			TCAGCAGCAATGC	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.-2-1G>T	7.37:g.24663284G>T		44	1		30	9	.	0	0	0	0	0	B2RAF0	Splice_Site	SNP	ENST00000222644.5	37	CCDS5388.1																																																																																			.		0.363	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		Intron
DFNA5	1687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	24789190	24789190	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:24789190C>A	ENST00000342947.3	-	2	629	c.204G>T	c.(202-204)ccG>ccT	p.P68P	DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.P68P|DFNA5_ENST00000409970.1_Intron	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	68					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TACCTGGACTCGGAAATTGGT	0.423																																					p.P68P	GBM(78;184 1250 20134 20900 23600)	.											.	DFNA5-91	0			c.G204T						.						123.0	133.0	130.0					7																	24789190		2203	4300	6503	SO:0001819	synonymous_variant	1687	exon2			TGGACTCGGAAAT	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.204G>T	7.37:g.24789190C>A		42	0		32	7	NM_001127453	0	0	0	0	0	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	CCDS5389.1																																																																																			.		0.423	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403	
C7orf31	136895	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	25182373	25182373	+	Missense_Mutation	SNP	C	C	G	rs17150982	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:25182373C>G	ENST00000409280.1	-	8	1053	c.745G>C	c.(745-747)Gct>Cct	p.A249P	C7orf31_ENST00000283905.3_Missense_Mutation_p.A249P			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	249			A -> T (in dbSNP:rs17150982).							autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GTGTTAGGAGCGAAGGTTTTA	0.398																																					p.A249P		.											.	C7orf31-90	0			c.G745C						.						91.0	96.0	94.0					7																	25182373		2203	4300	6503	SO:0001583	missense	136895	exon8			TAGGAGCGAAGGT	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.745G>C	7.37:g.25182373C>G	ENSP00000386604:p.Ala249Pro	71	0		58	17	NM_138811	0	0	0	0	0	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356759	0.82243	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.09817	2.94;2.94	5.51	5.51	0.81932	.	0.194556	0.36268	N	0.002686	T	0.33411	0.0862	M	0.67953	2.075	0.43218	D	0.995091	D	0.89917	1.0	D	0.91635	0.999	T	0.01030	-1.1475	10	0.52906	T	0.07	-18.103	18.1612	0.89708	0.0:1.0:0.0:0.0	.	249	Q8N865	CG031_HUMAN	P	249	ENSP00000386604:A249P;ENSP00000283905:A249P	ENSP00000283905:A249P	A	-	1	0	C7orf31	25148898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.615000	0.46368	2.594000	0.87642	0.484000	0.47621	GCT	C|0.971;T|0.029		0.398	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811	
HOXA3	3200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	27148164	27148164	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:27148164C>A	ENST00000396352.4	-	3	901	c.702G>T	c.(700-702)caG>caT	p.Q234H	HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.Q234H	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	234					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGATCTTGATCTGGCGCTCAG	0.587																																					p.Q234H	Esophageal Squamous(136;1368 1743 5685 7935 50360)	.											.	HOXA3-153	0			c.G702T						.						147.0	130.0	136.0					7																	27148164		2203	4300	6503	SO:0001583	missense	3200	exon3			CTTGATCTGGCGC		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.702G>T	7.37:g.27148164C>A	ENSP00000379640:p.Gln234His	134	1		93	17	NM_030661	0	0	0	0	0	A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223648	0.39300	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.97114	-4.25;-4.25	4.85	3.97	0.46021	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.113620	0.64402	D	0.000007	D	0.98086	0.9369	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98306	1.0521	10	0.87932	D	0	.	9.6804	0.40067	0.0:0.8424:0.0:0.1576	.	234	O43365	HXA3_HUMAN	H	234;234;76	ENSP00000379640:Q234H;ENSP00000324884:Q234H	ENSP00000324884:Q234H	Q	-	3	2	HOXA3	27114689	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.280000	0.51677	1.269000	0.44280	-0.150000	0.13652	CAG	.		0.587	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2		
EVX1	2128	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	27283071	27283071	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:27283071G>A	ENST00000496902.4	+	1	908	c.422G>A	c.(421-423)aGc>aAc	p.S141N	RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1_ENST00000222761.3_Intron|EVX1-AS_ENST00000519050.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_Intron			P49640	EVX1_HUMAN	even-skipped homeobox 1	141					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TACCAGCACAGCAAAGGTAGC	0.657																																					p.S141N		.											.	EVX1-91	0			c.G422A						.						20.0	21.0	21.0					7																	27283071		2188	4277	6465	SO:0001583	missense	2128	exon1			AGCACAGCAAAGG		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.422G>A	7.37:g.27283071G>A	ENSP00000419266:p.Ser141Asn	78	0		72	15	NM_001989	0	0	0	0	0	A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	9.081	0.999339	0.19121	.	.	ENSG00000106038	ENST00000496902	D	0.91351	-2.83	5.38	5.38	0.77491	.	0.142200	0.64402	D	0.000008	D	0.85957	0.5818	L	0.35414	1.06	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.80750	-0.1243	10	0.16896	T	0.51	-22.6836	19.1196	0.93357	0.0:0.0:1.0:0.0	.	141	P49640	EVX1_HUMAN	N	141	ENSP00000419266:S141N	ENSP00000419266:S141N	S	+	2	0	EVX1	27249596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.615000	0.54167	2.521000	0.84997	0.561000	0.74099	AGC	.		0.657	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3		
CREB5	9586	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	28610012	28610012	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:28610012G>T	ENST00000357727.2	+	5	711	c.321G>T	c.(319-321)ggG>ggT	p.G107G	CREB5_ENST00000396300.2_Silent_p.G100G|CREB5_ENST00000396299.2_Silent_p.G74G|CREB5_ENST00000409603.1_Silent_p.G74G	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	107					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CAGTTGGTGGGGCCATGACGG	0.537																																					p.G107G		.											.	CREB5-92	0			c.G321T						.						87.0	82.0	84.0					7																	28610012		2203	4300	6503	SO:0001819	synonymous_variant	9586	exon5			TGGTGGGGCCATG	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.321G>T	7.37:g.28610012G>T		290	2		203	72	NM_182898	0	0	0	0	0	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	CCDS5417.1																																																																																			.		0.537	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904	
NEUROD6	63974	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	31377995	31377995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:31377995delG	ENST00000297142.3	-	2	1210	c.888delC	c.(886-888)cccfs	p.P296fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	296					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGGGACCCCTGGGTGGCACTG	0.488																																					p.P296fs		.											.	NEUROD6-92	0			c.888delC						.						87.0	88.0	87.0					7																	31377995		2203	4300	6503	SO:0001589	frameshift_variant	63974	exon2			ACCCCTGGGTGGC	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.888delC	7.37:g.31377995delG	ENSP00000297142:p.Pro296fs	135	0		101	22	NM_022728	0	0	0	0	0	Q548T9|Q9H3H6	Frame_Shift_Del	DEL	ENST00000297142.3	37	CCDS5434.1																																																																																			.		0.488	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728	
BMPER	168667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	34006114	34006114	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:34006114T>C	ENST00000297161.2	+	5	717	c.343T>C	c.(343-345)Tat>Cat	p.Y115H	BMPER_ENST00000426693.1_Missense_Mutation_p.Y115H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	115	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGGAAATACCTATAACAGCTC	0.448																																					p.Y115H		.											.	BMPER-92	0			c.T343C						.						87.0	88.0	87.0					7																	34006114		2203	4300	6503	SO:0001583	missense	168667	exon5			AATACCTATAACA		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.343T>C	7.37:g.34006114T>C	ENSP00000297161:p.Tyr115His	107	0		50	11	NM_133468	0	0	0	0	0	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.776887	0.70107	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.69806	-0.43;-0.43	5.87	5.87	0.94306	von Willebrand factor, type C (1);	0.058405	0.64402	D	0.000001	T	0.62146	0.2404	L	0.41906	1.305	0.58432	D	0.999999	P	0.47350	0.894	B	0.43950	0.437	T	0.60464	-0.7258	10	0.28530	T	0.3	.	16.2676	0.82597	0.0:0.0:0.0:1.0	.	115	Q8N8U9	BMPER_HUMAN	H	115	ENSP00000297161:Y115H;ENSP00000393950:Y115H	ENSP00000297161:Y115H	Y	+	1	0	BMPER	33972639	1.000000	0.71417	0.962000	0.40283	0.976000	0.68499	5.077000	0.64419	2.243000	0.73865	0.533000	0.62120	TAT	.		0.448	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468	
BMPER	168667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	34125628	34125628	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:34125628C>A	ENST00000297161.2	+	14	2043	c.1669C>A	c.(1669-1671)Cat>Aat	p.H557N	BMPER_ENST00000426693.1_Missense_Mutation_p.H557N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	557	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCTCCGGGCCCATCGAGAATG	0.517																																					p.H557N		.											.	BMPER-92	0			c.C1669A						.						113.0	112.0	112.0					7																	34125628		2203	4300	6503	SO:0001583	missense	168667	exon14			CGGGCCCATCGAG		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1669C>A	7.37:g.34125628C>A	ENSP00000297161:p.His557Asn	172	0		117	20	NM_133468	0	0	0	0	0	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384356	0.82792	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.75821	-0.97;-0.97	6.08	6.08	0.98989	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	N	0.17674	0.51	0.80722	D	1	P	0.35944	0.529	B	0.43052	0.406	T	0.65117	-0.6246	10	0.29301	T	0.29	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	557	Q8N8U9	BMPER_HUMAN	N	557	ENSP00000297161:H557N;ENSP00000393950:H557N	ENSP00000297161:H557N	H	+	1	0	BMPER	34092153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.280000	0.78610	2.894000	0.99253	0.655000	0.94253	CAT	.		0.517	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468	
AOAH	313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	36726385	36726385	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:36726385C>A	ENST00000258749.5	-	2	541	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L	AOAH_ENST00000431169.1_Missense_Mutation_p.V48L|AOAH_ENST00000535891.1_Intron	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	48	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATTACAGACACCACCAGCACA	0.512																																					p.V48L		.											.	AOAH-91	0			c.G142T						.						136.0	111.0	119.0					7																	36726385		2203	4300	6503	SO:0001583	missense	313	exon2			CAGACACCACCAG	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.142G>T	7.37:g.36726385C>A	ENSP00000258749:p.Val48Leu	151	0		137	48	NM_001637	0	0	0	0	0	A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	7.567	0.665951	0.14710	.	.	ENSG00000136250	ENST00000258749;ENST00000431169;ENST00000544647	D;D	0.87179	-2.22;-2.22	5.48	0.261	0.15592	Saposin-like (2);Saposin B (2);	0.176183	0.38605	N	0.001632	T	0.75019	0.3793	.	.	.	0.80722	D	1	B;B	0.22851	0.076;0.007	B;B	0.15052	0.012;0.004	T	0.58329	-0.7655	9	0.27082	T	0.32	.	5.9811	0.19407	0.0:0.5298:0.251:0.2192	.	48;48	C9J8T1;P28039	.;AOAH_HUMAN	L	48	ENSP00000258749:V48L;ENSP00000405683:V48L	ENSP00000258749:V48L	V	-	1	0	AOAH	36692910	0.809000	0.29036	0.426000	0.26672	0.270000	0.26580	0.152000	0.16302	-0.158000	0.11040	-0.136000	0.14681	GTG	.		0.512	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637	
ELMO1	9844	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	37298802	37298802	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:37298802C>A	ENST00000310758.4	-	6	1044	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L	ELMO1_ENST00000442504.1_Missense_Mutation_p.V133L|ELMO1_ENST00000448602.1_Missense_Mutation_p.V133L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	133					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCGCTCTCCACCATCTGCGTG	0.517																																					p.V133L		.											.	ELMO1-96	0			c.G397T						.						52.0	50.0	51.0					7																	37298802		2203	4300	6503	SO:0001583	missense	9844	exon6			TCTCCACCATCTG	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.397G>T	7.37:g.37298802C>A	ENSP00000312185:p.Val133Leu	115	0		84	29	NM_014800	0	0	0	0	0	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142351	0.94560	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.66939	2.045	0.80722	D	1	D	0.60575	0.988	D	0.67382	0.951	T	0.30179	-0.9987	10	0.34782	T	0.22	.	19.5605	0.95369	0.0:1.0:0.0:0.0	.	133	Q92556	ELMO1_HUMAN	L	133;37;133;133;133;133	ENSP00000312185:V133L;ENSP00000406952:V133L;ENSP00000394458:V133L;ENSP00000406610:V133L;ENSP00000416090:V133L	ENSP00000312185:V133L	V	-	1	0	ELMO1	37265327	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.818000	0.86416	2.713000	0.92767	0.591000	0.81541	GTG	.		0.517	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
POU6F2	11281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	39379343	39379343	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:39379343C>A	ENST00000403058.1	+	6	768	c.614C>A	c.(613-615)cCg>cAg	p.P205Q	POU6F2_ENST00000518318.2_Missense_Mutation_p.P205Q|POU6F2_ENST00000559001.1_Missense_Mutation_p.P197Q|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	205	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AACCAGCACCCGCAACCAGCC	0.697																																					p.P205Q		.											.	POU6F2-90	0			c.C614A						.																																			SO:0001583	missense	11281	exon6			AGCACCCGCAACC	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.614C>A	7.37:g.39379343C>A	ENSP00000384004:p.Pro205Gln	12	0		23	6	NM_007252	0	0	0	0	0	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	7.279	0.608656	0.14002	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.84800	1.06;-1.9	4.59	4.59	0.56863	.	1.615480	0.04887	N	0.448800	T	0.71896	0.3394	N	0.04959	-0.14	0.22127	N	0.999348	B;B	0.24368	0.102;0.001	B;B	0.22152	0.038;0.001	T	0.58323	-0.7656	10	0.15066	T	0.55	.	10.1952	0.43049	0.199:0.801:0.0:0.0	.	205;205	P78424-2;P78424	.;PO6F2_HUMAN	Q	205	ENSP00000384004:P205Q;ENSP00000430514:P205Q	ENSP00000384004:P205Q	P	+	2	0	POU6F2	39345868	0.910000	0.30920	0.681000	0.30009	0.252000	0.25951	1.850000	0.39328	2.092000	0.63282	0.557000	0.71058	CCG	.		0.697	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	
MPLKIP	136647	hgsc.bcm.edu	37	7	40174042	40174042	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:40174042C>A	ENST00000306984.6	-	1	216	c.125G>T	c.(124-126)cGa>cTa	p.R42L	C7orf10_ENST00000309930.5_5'Flank|C7orf10_ENST00000401647.2_5'Flank|C7orf10_ENST00000335693.4_5'Flank|C7orf10_ENST00000540834.1_5'Flank	NM_138701.3	NP_619646.1	Q8TAP9	MPLKI_HUMAN	M-phase specific PLK1 interacting protein	42					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)											GTACCCGTCTCGAGGGGAGGG	0.731																																					p.R42L		.											.	.	0			c.G125T						.						3.0	4.0	4.0					7																	40174042		1909	3886	5795	SO:0001583	missense	136647	exon1			CCGTCTCGAGGGG	AX048113	CCDS5463.1	7p14	2014-09-17	2012-03-01	2012-03-01	ENSG00000168303	ENSG00000168303			16002	protein-coding gene	gene with protein product	tricothiodystrophy, non-photosensitive 1	609188	"""chromosome 7 open reading frame 11"""	C7orf11		11829489	Standard	NM_138701		Approved	ORF20, TTDN1	uc003thl.4	Q8TAP9	OTTHUMG00000128797	ENST00000306984.6:c.125G>T	7.37:g.40174042C>A	ENSP00000304553:p.Arg42Leu	10	0		62	16	NM_138701	0	0	0	0	0		Missense_Mutation	SNP	ENST00000306984.6	37	CCDS5463.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963752	0.74016	.	.	ENSG00000168303	ENST00000306984	T	0.78924	-1.22	5.18	4.31	0.51392	.	0.397351	0.24447	N	0.038453	T	0.67869	0.2939	L	0.47716	1.5	0.37855	D	0.929521	P	0.46064	0.872	B	0.38264	0.269	T	0.69105	-0.5233	10	0.28530	T	0.3	-28.0936	11.0745	0.48023	0.0:0.9157:0.0:0.0843	.	42	Q8TAP9	TTDN1_HUMAN	L	42	ENSP00000304553:R42L	ENSP00000304553:R42L	R	-	2	0	C7orf11	40140567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.653000	0.46691	1.416000	0.47057	0.655000	0.94253	CGA	.		0.731	MPLKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250729.3	NM_138701	
INHBA	3624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	41739811	41739811	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:41739811C>A	ENST00000242208.4	-	2	408	c.162G>T	c.(160-162)atG>atT	p.M54I	INHBA_ENST00000442711.1_Missense_Mutation_p.M54I|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	54					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CGGCCTCCACCATCTCTGGCT	0.622										TSP Lung(11;0.080)																											p.M54I		.											.	INHBA-703	0			c.G162T						.						199.0	214.0	209.0					7																	41739811		2203	4300	6503	SO:0001583	missense	3624	exon2			CTCCACCATCTCT		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.162G>T	7.37:g.41739811C>A	ENSP00000242208:p.Met54Ile	87	0		42	15	NM_002192	0	0	0	0	0	Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982660	0.74474	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.63913	-0.07;-0.07	5.49	4.6	0.57074	Transforming growth factor-beta, N-terminal (1);	0.042319	0.85682	N	0.000000	T	0.67618	0.2912	L	0.61218	1.895	0.80722	D	1	P	0.48503	0.911	P	0.49752	0.621	T	0.67150	-0.5743	10	0.33940	T	0.23	-29.0818	15.6547	0.77124	0.1383:0.8617:0.0:0.0	.	54	P08476	INHBA_HUMAN	I	54	ENSP00000242208:M54I;ENSP00000397197:M54I	ENSP00000242208:M54I	M	-	3	0	INHBA	41706336	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.772000	0.68889	1.295000	0.44724	-0.182000	0.12963	ATG	C|1.000;A|0.000		0.622	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
NPC1L1	29881	bcgsc.ca	37	7	44579180	44579180	+	Silent	SNP	G	G	C	rs2072183	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:44579180G>C	ENST00000289547.4	-	2	871	c.816C>G	c.(814-816)ctC>ctG	p.L272L	NPC1L1_ENST00000423141.1_Silent_p.L272L|NPC1L1_ENST00000546276.1_Silent_p.L272L|NPC1L1_ENST00000381160.3_Silent_p.L272L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	272					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGTGGAGTCGAGGGCCTGGG	0.612													C|||	1238	0.247204	0.1952	0.245	5008	,	,		20275	0.374		0.2336	False		,,,				2504	0.2025				p.L272L		.											.	NPC1L1-94	0			c.C816G						.	C	,	971,3435		108,755,1340	50.0	54.0	53.0	http://www.ncbi.nlm.nih.gov/pubmed?term	816,816	4.0	0.4	7	dbSNP_96	53	1928,6672		234,1460,2606	yes	coding-synonymous,coding-synonymous	NPC1L1	NM_001101648.1,NM_013389.2	,	342,2215,3946	CC,CG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	22.4186,22.0381,22.2897	,	272/1333,272/1360	44579180	2899,10107	2203	4300	6503	SO:0001819	synonymous_variant	29881	exon2			GGAGTCGAGGGCC		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.816C>G	7.37:g.44579180G>C		159	0		128	5	NM_001101648	0	0	0	0	0	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	CCDS5491.1																																																																																			G|0.644;C|0.356;A|0.000		0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389	
RAMP3	10268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	45222995	45222995	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:45222995C>G	ENST00000242249.4	+	3	469	c.431C>G	c.(430-432)aCc>aGc	p.T144S	RAMP3_ENST00000481345.1_Missense_Mutation_p.T144S|RAMP3_ENST00000496212.1_Missense_Mutation_p.T144S	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	144					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	AGCAAACGCACCGACACGCTG	0.622																																					p.T144S		.											.	RAMP3-90	0			c.C431G						.						101.0	93.0	96.0					7																	45222995		2203	4300	6503	SO:0001583	missense	10268	exon3			AACGCACCGACAC	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.431C>G	7.37:g.45222995C>G	ENSP00000242249:p.Thr144Ser	109	0		100	29	NM_005856	0	0	0	0	0	Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	C	1.404	-0.577326	0.03854	.	.	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.41758	0.99;0.99;0.99	4.37	2.15	0.27550	.	0.482478	0.23347	N	0.049165	T	0.19565	0.0470	N	0.20685	0.6	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.28170	-1.0052	10	0.02654	T	1	-17.8864	5.898	0.18949	0.2406:0.4004:0.3591:0.0	.	144	O60896	RAMP3_HUMAN	S	144	ENSP00000242249:T144S;ENSP00000419012:T144S;ENSP00000418460:T144S	ENSP00000242249:T144S	T	+	2	0	RAMP3	45189520	0.994000	0.37717	0.001000	0.08648	0.004000	0.04260	2.084000	0.41625	0.734000	0.32515	0.655000	0.94253	ACC	.		0.622	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856	
ADCY1	107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	45753294	45753294	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:45753294G>T	ENST00000297323.7	+	20	3082	c.3060G>T	c.(3058-3060)gtG>gtT	p.V1020V		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1020					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATCAACAGGTGACTGAGGAAG	0.532																																					p.V1020V		.											.	ADCY1-95	0			c.G3060T						.						61.0	60.0	61.0					7																	45753294		2203	4300	6503	SO:0001819	synonymous_variant	107	exon20			ACAGGTGACTGAG	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3060G>T	7.37:g.45753294G>T		185	0		140	43	NM_021116	0	0	0	0	0	A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	CCDS34631.1																																																																																			.		0.532	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
IGFBP1	3484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	45932578	45932578	+	Missense_Mutation	SNP	G	G	T	rs201339143		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:45932578G>T	ENST00000275525.3	+	4	964	c.668G>T	c.(667-669)gGa>gTa	p.G223V	IGFBP1_ENST00000468955.1_Missense_Mutation_p.G180V|IGFBP1_ENST00000457280.1_Missense_Mutation_p.G221V	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	223	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						TCCATGGATGGAGAGGCGGGA	0.517																																					p.G223V		.											.	IGFBP1-946	0			c.G668T						.						82.0	78.0	79.0					7																	45932578		2203	4300	6503	SO:0001583	missense	3484	exon4			TGGATGGAGAGGC		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.668G>T	7.37:g.45932578G>T	ENSP00000275525:p.Gly223Val	53	0		53	15	NM_000596	0	0	0	0	0	A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382723	0.42207	.	.	ENSG00000146678	ENST00000275525;ENST00000457280;ENST00000468955	T;T;T	0.65916	-0.18;-0.18;-0.18	5.74	4.86	0.63082	Thyroglobulin type-1 (6);	0.049569	0.85682	D	0.000000	T	0.80210	0.4581	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.83178	-0.0090	10	0.72032	D	0.01	-35.7427	12.7027	0.57043	0.0805:0.0:0.9195:0.0	.	180;223;221	C9J6H2;P08833;C9JXF9	.;IBP1_HUMAN;.	V	223;221;180	ENSP00000275525:G223V;ENSP00000413511:G221V;ENSP00000417069:G180V	ENSP00000275525:G223V	G	+	2	0	IGFBP1	45899103	1.000000	0.71417	0.016000	0.15963	0.007000	0.05969	5.180000	0.65048	1.427000	0.47276	0.591000	0.81541	GGA	.		0.517	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596	
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	48314688	48314688	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:48314688C>G	ENST00000435803.1	+	17	5449	c.5425C>G	c.(5425-5427)Cca>Gca	p.P1809A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1809					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCAGATAAGCCAGATATTAT	0.373																																					p.P1809A		.											.	ABCA13-521	0			c.C5425G						.						34.0	33.0	33.0					7																	48314688		1824	4075	5899	SO:0001583	missense	154664	exon17			GATAAGCCAGATA	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5425C>G	7.37:g.48314688C>G	ENSP00000411096:p.Pro1809Ala	74	0		34	14	NM_152701	0	0	0	0	0	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885413	0.33255	.	.	ENSG00000179869	ENST00000435803	T	0.20332	2.08	6.05	6.05	0.98169	.	0.000000	0.49305	D	0.000155	T	0.42921	0.1224	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.09292	-1.0681	9	.	.	.	.	12.9903	0.58614	0.0:0.9241:0.0:0.0759	.	1809	Q86UQ4	ABCAD_HUMAN	A	1809	ENSP00000411096:P1809A	.	P	+	1	0	ABCA13	48285234	0.476000	0.25901	0.219000	0.23793	0.012000	0.07955	2.243000	0.43115	2.878000	0.98634	0.650000	0.86243	CCA	.		0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
IKZF1	10320	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	50468109	50468109	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:50468109G>C	ENST00000331340.3	+	8	1499	c.1344G>C	c.(1342-1344)gcG>gcC	p.A448A	IKZF1_ENST00000349824.4_Silent_p.A305A|IKZF1_ENST00000439701.1_Silent_p.A406A|IKZF1_ENST00000346667.4_Silent_p.A218A|IKZF1_ENST00000357364.4_Silent_p.A361A|IKZF1_ENST00000343574.5_Silent_p.A361A|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Silent_p.A406A|IKZF1_ENST00000438033.1_Silent_p.A361A	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	448					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCAGGACGCGCTCCGCGTGG	0.657			"""D,T"""	BCL6	"""ALL, DLBCL"""																																p.A448A		.		"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	.	IKZF1-1242	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)	c.G1344C						.						28.0	32.0	31.0					7																	50468109		2106	4245	6351	SO:0001819	synonymous_variant	10320	exon8			GGACGCGCTCCGC	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1344G>C	7.37:g.50468109G>C		104	1		148	36	NM_006060	0	0	0	0	0	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37																																																																																				.		0.657	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060	
COBL	23242	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	51092894	51092894	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:51092894C>A	ENST00000265136.7	-	12	3845	c.3680G>T	c.(3679-3681)aGc>aTc	p.S1227I	COBL_ENST00000395542.2_Missense_Mutation_p.S1309I|RP4-724E13.2_ENST00000582616.1_RNA	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1227					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGTGCCCGTGCTGAACCTGGA	0.637																																					p.S1227I	NSCLC(189;2119 2138 12223 30818 34679)	.											.	COBL-95	0			c.G3680T						.						68.0	64.0	65.0					7																	51092894		2203	4300	6503	SO:0001583	missense	23242	exon12			CCCGTGCTGAACC	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3680G>T	7.37:g.51092894C>A	ENSP00000265136:p.Ser1227Ile	90	0		84	24	NM_015198	0	0	0	0	0	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.202814	0.58234	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.16743	2.32;2.42;2.34;2.33	5.34	3.48	0.39840	.	0.166548	0.29066	N	0.013246	T	0.32704	0.0838	M	0.61703	1.905	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999	D;D;D;D;D	0.71656	0.952;0.952;0.963;0.974;0.974	T	0.04307	-1.0961	10	0.66056	D	0.02	.	6.9335	0.24453	0.0:0.6122:0.2832:0.1046	.	1180;1237;1227;1309;769	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	I	1227;1072;1112;1309	ENSP00000265136:S1227I;ENSP00000401204:S1072I;ENSP00000413498:S1112I;ENSP00000378912:S1309I	ENSP00000265136:S1227I	S	-	2	0	COBL	51060388	0.000000	0.05858	0.061000	0.19648	0.073000	0.16967	0.578000	0.23773	1.241000	0.43820	0.650000	0.86243	AGC	.		0.637	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
COBL	23242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	51111286	51111286	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:51111286C>A	ENST00000265136.7	-	8	1365	c.1200G>T	c.(1198-1200)tcG>tcT	p.S400S	COBL_ENST00000395542.2_Silent_p.S482S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	400					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTGTCCTCCGACGCAAAAC	0.617																																					p.S400S	NSCLC(189;2119 2138 12223 30818 34679)	.											.	COBL-95	0			c.G1200T						.						109.0	89.0	96.0					7																	51111286		2203	4300	6503	SO:0001819	synonymous_variant	23242	exon8			GTCCTCCGACGCA	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1200G>T	7.37:g.51111286C>A		108	0		79	33	NM_015198	0	0	0	0	0	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	c	0.144	-1.099123	0.01843	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	.	.	.	.	.	.	0.49582	D	0.999806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0634	0.09849	0.141:0.4475:0.1418:0.2697	.	.	.	.	X	376	.	.	G	-	1	0	COBL	51078780	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-8.460000	0.00020	-4.090000	0.00074	-1.154000	0.01816	GGA	.		0.617	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
POM121L12	285877	broad.mit.edu	37	7	53103415	53103415	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:53103415G>A	ENST00000408890.4	+	1	67	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	17										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACTTCTGGAAGGCGGGAGAAC	0.697																																					p.K17K		.											.	.	0			c.G51A						.						13.0	17.0	16.0					7																	53103415		2003	4150	6153	SO:0001819	synonymous_variant	285877	exon1			CTGGAAGGCGGGA		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.51G>A	7.37:g.53103415G>A		67	3		113	22	NM_182595	0	0	0	0	0	Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																			.		0.697	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
POM121L12	285877	broad.mit.edu;bcgsc.ca	37	7	53103439	53103439	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:53103439C>A	ENST00000408890.4	+	1	91	c.75C>A	c.(73-75)ggC>ggA	p.G25G		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	25										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCTGCAAGGCCCCGACGCCC	0.711																																					p.G25G		.											.	.	0			c.C75A						.						16.0	22.0	20.0					7																	53103439		2028	4163	6191	SO:0001819	synonymous_variant	285877	exon1			GCAAGGCCCCGAC		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.75C>A	7.37:g.53103439C>A		82	2		132	30	NM_182595	0	0	0	0	0	Q8NDI9	Silent	SNP	ENST00000408890.4	37	CCDS43584.1																																																																																			.		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
VSTM2A	222008	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	54617625	54617625	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:54617625C>G	ENST00000407838.3	+	4	802	c.396C>G	c.(394-396)gcC>gcG	p.A132A	VSTM2A_ENST00000302287.3_Silent_p.A132A|VSTM2A_ENST00000402613.3_Silent_p.A132A|VSTM2A_ENST00000404951.1_Silent_p.A132A|VSTM2A_ENST00000402026.2_Silent_p.A131A|VSTM2A_ENST00000498834.1_3'UTR	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	132	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGACTGATGCCAACTACGGGG	0.512																																					p.A132A		.											.	.	0			c.C396G						.						60.0	60.0	60.0					7																	54617625		2203	4300	6503	SO:0001819	synonymous_variant	222008	exon4			TGATGCCAACTAC	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.396C>G	7.37:g.54617625C>G		216	0		166	46	NM_182546	0	0	0	0	0	A4D2E9|B5MC94	Silent	SNP	ENST00000407838.3	37	CCDS5512.2																																																																																			.		0.512	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546	
LANCL2	55915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	55479679	55479679	+	Missense_Mutation	SNP	G	G	T	rs371096573		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:55479679G>T	ENST00000254770.2	+	6	1483	c.905G>T	c.(904-906)cGa>cTa	p.R302L		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	302					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			AAAAAATTCCGATCTGGGAAT	0.483																																					p.R302L		.											.	LANCL2-516	0			c.G905T						.						84.0	90.0	88.0					7																	55479679		2203	4300	6503	SO:0001583	missense	55915	exon6			AATTCCGATCTGG	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.905G>T	7.37:g.55479679G>T	ENSP00000254770:p.Arg302Leu	130	0		157	53	NM_018697	0	0	0	0	0	B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921709	0.73213	.	.	ENSG00000132434	ENST00000254770	T	0.42513	0.97	5.81	5.81	0.92471	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	L	0.46741	1.465	0.53005	D	0.99996	P	0.48407	0.91	P	0.54965	0.765	T	0.52487	-0.8569	10	0.62326	D	0.03	.	18.6322	0.91364	0.0:0.0:1.0:0.0	.	302	Q9NS86	LANC2_HUMAN	L	302	ENSP00000254770:R302L	ENSP00000254770:R302L	R	+	2	0	LANCL2	55447173	0.997000	0.39634	0.998000	0.56505	0.407000	0.30961	5.135000	0.64777	2.734000	0.93682	0.650000	0.86243	CGA	.		0.483	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697	
CCT6A	908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	56128072	56128072	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:56128072G>T	ENST00000275603.4	+	10	1395	c.1176G>T	c.(1174-1176)agG>agT	p.R392S	CCT6A_ENST00000540286.1_Missense_Mutation_p.R361S|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Missense_Mutation_p.R347S	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	392					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGCAGTGAGGGACGGCTTGA	0.398																																					p.R392S		.											.	CCT6A-91	0			c.G1176T						.						105.0	93.0	97.0					7																	56128072		2203	4300	6503	SO:0001583	missense	908	exon10			AGTGAGGGACGGC	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1176G>T	7.37:g.56128072G>T	ENSP00000275603:p.Arg392Ser	168	0		120	31	NM_001762	0	0	0	0	0	A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472124	0.63737	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.79033	-1.23;-1.23;-1.23	5.68	2.03	0.26663	.	0.000000	0.85682	D	0.000000	D	0.86602	0.5972	M	0.88979	2.995	0.80722	D	1	D;P;P	0.55605	0.972;0.76;0.724	P;P;P	0.62184	0.899;0.589;0.477	D	0.86178	0.1604	10	0.72032	D	0.01	-27.8001	9.427	0.38586	0.6258:0.0:0.3741:0.0	.	361;347;392	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	S	392;347;361;250	ENSP00000275603:R392S;ENSP00000352019:R347S;ENSP00000438488:R361S	ENSP00000275603:R392S	R	+	3	2	CCT6A	56095566	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.563000	0.45922	0.444000	0.26612	-0.469000	0.05056	AGG	.		0.398	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762	
CALN1	83698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	71571250	71571250	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:71571250G>T	ENST00000329008.5	-	3	446	c.148C>A	c.(148-150)Cgg>Agg	p.R50R	CALN1_ENST00000395276.2_Silent_p.R50R|CALN1_ENST00000405452.2_Silent_p.R50R|CALN1_ENST00000412588.1_Silent_p.R92R|CALN1_ENST00000395275.2_Silent_p.R92R|CALN1_ENST00000431984.1_Silent_p.R50R	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	50	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TTCCCATCCCGGTCCAGAACC	0.537																																					p.R92R		.											.	CALN1-91	0			c.C274A						.						64.0	61.0	62.0					7																	71571250		2203	4300	6503	SO:0001819	synonymous_variant	83698	exon4			CATCCCGGTCCAG	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.148C>A	7.37:g.71571250G>T		94	0		96	43	NM_031468	0	0	0	0	0	J3KQA7	Silent	SNP	ENST00000329008.5	37	CCDS5541.1																																																																																			.		0.537	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
MDH2	4191	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	75689773	75689773	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:75689773C>T	ENST00000315758.5	+	5	606	c.512C>T	c.(511-513)aCc>aTc	p.T171I	MDH2_ENST00000443006.1_Missense_Mutation_p.T64I|MDH2_ENST00000432020.2_Intron	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	171					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						GGCGTGACGACCCTGGACATC	0.527																																					p.T171I		.											.	MDH2-228	0			c.C512T						.						144.0	119.0	128.0					7																	75689773		2203	4300	6503	SO:0001583	missense	4191	exon5			TGACGACCCTGGA		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.512C>T	7.37:g.75689773C>T	ENSP00000327070:p.Thr171Ile	168	0		202	69	NM_005918	0	0	0	0	0	A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	CCDS5581.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951469	0.92660	.	.	ENSG00000146701	ENST00000315758;ENST00000443006	T;T	0.68624	-0.34;-0.34	5.93	5.93	0.95920	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87152	0.6106	M	0.93507	3.425	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.89543	0.3794	10	0.87932	D	0	-9.4816	19.341	0.94340	0.0:1.0:0.0:0.0	.	171	P40926	MDHM_HUMAN	I	171;64	ENSP00000327070:T171I;ENSP00000416929:T64I	ENSP00000327070:T171I	T	+	2	0	MDH2	75527709	1.000000	0.71417	0.998000	0.56505	0.787000	0.44495	7.672000	0.83956	2.815000	0.96918	0.650000	0.86243	ACC	.		0.527	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1		
MAGI2	9863	broad.mit.edu;ucsc.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	78131056	78131057	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	|G	|G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:78131056_78131057GG>TT	ENST00000354212.4	-	5	1055_1056	c.802_803CC>AA	c.(802-804)CCc>AAc	p.P268N	MAGI2_ENST00000522391.1_Missense_Mutation_p.P268N|MAGI2_ENST00000536571.1_Missense_Mutation_p.P100N|MAGI2_ENST00000419488.1_Missense_Mutation_p.P268N|MAGI2_ENST00000535697.1_Missense_Mutation_p.P105N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	268	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGCTGGGAGGGCATCTCCCCT	0.495																																					p.P268H|p.P268T		.											.	MAGI2-461	0			c.C803A|c.C802A						.																																			SO:0001583	missense	9863	exon5			TGGGAGGGCATCT|GGGAGGGCATCTC	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.802_803delinsTT	7.37:g.78131056_78131057delinsTT	ENSP00000346151:p.Pro268Asn	85|82	1|0		107|105	33|32	NM_012301	0	0	0	0	0	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1																																																																																			.		0.495	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
SEMA3D	223117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	84628911	84628911	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:84628911G>T	ENST00000284136.6	-	17	2222	c.2179C>A	c.(2179-2181)Ctc>Atc	p.L727I	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	727					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TACTGGTCGAGGCTGAAGTTT	0.517																																					p.L727I	Ovarian(63;442 1191 17318 29975 31528)	.											.	SEMA3D-138	0			c.C2179A						.						170.0	144.0	153.0					7																	84628911		2203	4300	6503	SO:0001583	missense	223117	exon17			GGTCGAGGCTGAA	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2179C>A	7.37:g.84628911G>T	ENSP00000284136:p.Leu727Ile	216	0		221	76	NM_152754	0	0	0	0	0	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712238	0.68730	.	.	ENSG00000153993	ENST00000284136	T	0.30981	1.51	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	L	0.51422	1.61	0.80722	D	1	P	0.52577	0.954	P	0.47206	0.541	T	0.03315	-1.1049	10	0.33141	T	0.24	.	19.9002	0.96983	0.0:0.0:1.0:0.0	.	727	O95025	SEM3D_HUMAN	I	727	ENSP00000284136:L727I	ENSP00000284136:L727I	L	-	1	0	SEMA3D	84466847	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	3.098000	0.50259	2.709000	0.92574	0.655000	0.94253	CTC	.		0.517	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
SEMA3D	223117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	84644451	84644451	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:84644451C>A	ENST00000284136.6	-	14	1670	c.1627G>T	c.(1627-1629)Gac>Tac	p.D543Y	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	543	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGACAACAGTCTGCGCAAGCT	0.473																																					p.D543Y	Ovarian(63;442 1191 17318 29975 31528)	.											.	SEMA3D-138	0			c.G1627T						.						140.0	128.0	132.0					7																	84644451		2203	4300	6503	SO:0001583	missense	223117	exon14			AACAGTCTGCGCA	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1627G>T	7.37:g.84644451C>A	ENSP00000284136:p.Asp543Tyr	213	0		205	81	NM_152754	0	0	0	0	0	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917249	0.92249	.	.	ENSG00000153993	ENST00000284136	T	0.25414	1.8	5.75	5.75	0.90469	.	0.041555	0.85682	D	0.000000	T	0.63082	0.2481	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.72833	-0.4173	10	0.87932	D	0	.	19.9361	0.97143	0.0:1.0:0.0:0.0	.	543	O95025	SEM3D_HUMAN	Y	543	ENSP00000284136:D543Y	ENSP00000284136:D543Y	D	-	1	0	SEMA3D	84482387	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.720000	0.93068	0.561000	0.74099	GAC	.		0.473	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
SEMA3D	223117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	84644491	84644491	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:84644491G>T	ENST00000284136.6	-	14	1630	c.1587C>A	c.(1585-1587)ctC>ctA	p.L529L	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	529	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTGCAAGGAGAGCTGAACCA	0.453																																					p.L529L	Ovarian(63;442 1191 17318 29975 31528)	.											.	SEMA3D-138	0			c.C1587A						.						150.0	139.0	143.0					7																	84644491		2203	4300	6503	SO:0001819	synonymous_variant	223117	exon14			CAAGGAGAGCTGA	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1587C>A	7.37:g.84644491G>T		206	0		197	72	NM_152754	0	0	0	0	0	A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	CCDS34676.1																																																																																			.		0.453	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
GRM3	2913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	86394645	86394645	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:86394645G>A	ENST00000361669.2	+	2	1283	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.E62K|GRM3_ENST00000394720.2_Missense_Mutation_p.E60K|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	62					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GCGAATCAATGAAGACCGAGG	0.423																																					p.E62K	GBM(52;969 1098 3139 52280)	.											.	GRM3-528	0			c.G184A						.						144.0	138.0	140.0					7																	86394645		2203	4300	6503	SO:0001583	missense	2913	exon2			ATCAATGAAGACC		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.184G>A	7.37:g.86394645G>A	ENSP00000355316:p.Glu62Lys	156	0		185	37	NM_000840	0	0	0	0	0	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987822	0.74589	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	N	0.25144	0.715	0.80722	D	1	P;B	0.40534	0.72;0.227	B;B	0.41374	0.355;0.078	T	0.67554	-0.5641	10	0.06494	T	0.89	.	17.9854	0.89154	0.0:0.0:1.0:0.0	.	62;62	G5E9K2;Q14832	.;GRM3_HUMAN	K	62;62;60;62;62	ENSP00000355316:E62K;ENSP00000398767:E62K;ENSP00000378209:E60K;ENSP00000390037:E62K;ENSP00000407490:E62K	ENSP00000355316:E62K	E	+	1	0	GRM3	86232581	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.794000	0.85869	2.732000	0.93576	0.655000	0.94253	GAA	.		0.423	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
ABCB4	5244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	87082308	87082308	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:87082308C>A	ENST00000265723.4	-	6	599	c.488G>T	c.(487-489)gGa>gTa	p.G163V	ABCB4_ENST00000358400.3_Missense_Mutation_p.G163V|ABCB4_ENST00000359206.3_Missense_Mutation_p.G163V|ABCB4_ENST00000545634.1_Missense_Mutation_p.G163V|ABCB4_ENST00000453593.1_Missense_Mutation_p.G163V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	163	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTCAAACCATCCTATTTCCTG	0.388																																					p.G163V		.											.	ABCB4-96	0			c.G488T						.						123.0	111.0	115.0					7																	87082308		2203	4300	6503	SO:0001583	missense	5244	exon6			AACCATCCTATTT	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.488G>T	7.37:g.87082308C>A	ENSP00000265723:p.Gly163Val	116	0		97	29	NM_018850	0	0	0	0	0	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058406	0.93846	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;0.973;0.996;0.997	D;D;D;D	0.91635	0.999;0.927;0.954;0.973	D	0.97054	0.9766	10	0.87932	D	0	-13.4449	19.5102	0.95139	0.0:1.0:0.0:0.0	.	163;163;163;163	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	V	163	ENSP00000352135:G163V;ENSP00000351172:G163V;ENSP00000265723:G163V;ENSP00000392983:G163V;ENSP00000437465:G163V	ENSP00000265723:G163V	G	-	2	0	ABCB4	86920244	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.767000	0.85331	2.615000	0.88500	0.591000	0.81541	GGA	.		0.388	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ABCB1	5243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	87138732	87138732	+	Silent	SNP	C	C	A	rs536000511		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:87138732C>A	ENST00000265724.3	-	27	3765	c.3348G>T	c.(3346-3348)gtG>gtT	p.V1116V	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.V1052V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1116	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCTCCTGGGACACGATGCCCA	0.512																																					p.V1116V		.											.	ABCB1-582	0			c.G3348T						.						137.0	127.0	131.0					7																	87138732		2203	4300	6503	SO:0001819	synonymous_variant	5243	exon27			CTGGGACACGATG	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3348G>T	7.37:g.87138732C>A		149	0		157	24	NM_000927	0	0	0	0	0	A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	CCDS5608.1																																																																																			.		0.512	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
DBF4	10926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	87526653	87526653	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:87526653C>A	ENST00000265728.1	+	8	1183	c.679C>A	c.(679-681)Caa>Aaa	p.Q227K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	227					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AGATATGAGCCAGTAAGTATT	0.328																																					p.Q227K		.											.	DBF4-253	0			c.C679A						.						174.0	189.0	184.0					7																	87526653		2203	4299	6502	SO:0001630	splice_region_variant	10926	exon8			ATGAGCCAGTAAG	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.680+1C>A	7.37:g.87526653C>A		72	0		71	20	NM_006716	0	0	0	0	0	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634047	0.47049	.	.	ENSG00000006634	ENST00000265728	T	0.10860	2.83	5.34	5.34	0.76211	.	0.264925	0.35838	N	0.002957	T	0.08802	0.0218	L	0.47716	1.5	0.25142	N	0.990493	B	0.31435	0.323	B	0.27380	0.079	T	0.29488	-1.0010	10	0.06494	T	0.89	-3.4747	11.6712	0.51401	0.0:0.9189:0.0:0.0811	.	227	Q9UBU7	DBF4A_HUMAN	K	227	ENSP00000265728:Q227K	ENSP00000265728:Q227K	Q	+	1	0	DBF4	87364589	0.988000	0.35896	0.943000	0.38184	0.954000	0.61252	1.087000	0.30865	2.499000	0.84300	0.591000	0.81541	CAA	.		0.328	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716	Missense_Mutation
ZNF804B	219578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	88963902	88963902	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:88963902C>T	ENST00000333190.4	+	4	2215	c.1606C>T	c.(1606-1608)Cca>Tca	p.P536S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	536							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATATCCGAAACCAAAGACGAT	0.363										HNSCC(36;0.09)																											p.P536S		.											.	ZNF804B-101	0			c.C1606T						.						48.0	50.0	49.0					7																	88963902		2202	4298	6500	SO:0001583	missense	219578	exon4			CCGAAACCAAAGA	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1606C>T	7.37:g.88963902C>T	ENSP00000329638:p.Pro536Ser	141	0		117	32	NM_181646	0	0	0	0	0	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022402	0.54683	.	.	ENSG00000182348	ENST00000333190	T	0.20332	2.08	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000005	T	0.48223	0.1488	M	0.69823	2.125	0.46416	D	0.999032	D	0.89917	1.0	D	0.74674	0.984	T	0.44711	-0.9310	10	0.72032	D	0.01	-17.7365	19.253	0.93933	0.0:1.0:0.0:0.0	.	536	A4D1E1	Z804B_HUMAN	S	536	ENSP00000329638:P536S	ENSP00000329638:P536S	P	+	1	0	ZNF804B	88801838	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	5.597000	0.67577	2.785000	0.95823	0.655000	0.94253	CCA	.		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
ZNF804B	219578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	88966065	88966065	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:88966065C>A	ENST00000333190.4	+	4	4378	c.3769C>A	c.(3769-3771)Cct>Act	p.P1257T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1257							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACCATTATCCCTGCACACCC	0.488										HNSCC(36;0.09)																											p.P1257T		.											.	ZNF804B-101	0			c.C3769A						.						227.0	189.0	202.0					7																	88966065		2203	4300	6503	SO:0001583	missense	219578	exon4			ATTATCCCTGCAC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3769C>A	7.37:g.88966065C>A	ENSP00000329638:p.Pro1257Thr	119	0		129	50	NM_181646	0	0	0	0	0	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132692	0.56828	.	.	ENSG00000182348	ENST00000333190	T	0.33438	1.41	5.16	5.16	0.70880	.	0.098132	0.45606	D	0.000350	T	0.59046	0.2165	M	0.77103	2.36	0.47584	D	0.999461	D	0.89917	1.0	D	0.77004	0.989	T	0.62882	-0.6760	10	0.72032	D	0.01	-15.6603	18.8226	0.92103	0.0:1.0:0.0:0.0	.	1257	A4D1E1	Z804B_HUMAN	T	1257	ENSP00000329638:P1257T	ENSP00000329638:P1257T	P	+	1	0	ZNF804B	88804001	1.000000	0.71417	0.995000	0.50966	0.264000	0.26372	6.985000	0.76193	2.670000	0.90874	0.561000	0.74099	CCT	.		0.488	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
SAMD9	54809	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	92732074	92732074	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:92732074C>T	ENST00000379958.2	-	3	3606	c.3337G>A	c.(3337-3339)Gaa>Aaa	p.E1113K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1113						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGTCAGGTTCTATGATTTTT	0.383																																					p.E1113K		.											.	SAMD9-140	0			c.G3337A						.						108.0	104.0	105.0					7																	92732074		2203	4300	6503	SO:0001583	missense	54809	exon2			CAGGTTCTATGAT	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3337G>A	7.37:g.92732074C>T	ENSP00000369292:p.Glu1113Lys	99	1		103	24	NM_001193307	0	0	0	0	0	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	9.895	1.205209	0.22205	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.21361	2.01;2.82	4.79	2.89	0.33648	.	0.265527	0.27881	N	0.017477	T	0.13798	0.0334	N	0.25647	0.755	0.09310	N	1	B	0.22003	0.063	B	0.17433	0.018	T	0.17592	-1.0364	10	0.45353	T	0.12	.	9.2277	0.37416	0.0:0.7701:0.1463:0.0835	.	1113	Q5K651	SAMD9_HUMAN	K	1113	ENSP00000369292:E1113K;ENSP00000414529:E1113K	ENSP00000369292:E1113K	E	-	1	0	SAMD9	92570010	0.040000	0.19996	0.338000	0.25549	0.857000	0.48899	1.604000	0.36804	1.201000	0.43203	0.609000	0.83330	GAA	.		0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9L	219285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	92763958	92763958	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:92763958C>A	ENST00000318238.4	-	5	2543	c.1327G>T	c.(1327-1329)Gtg>Ttg	p.V443L	SAMD9L_ENST00000437805.1_Missense_Mutation_p.V443L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.V443L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	443					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AACTCCAACACAGCAAACCAT	0.338																																					p.V443L		.											.	SAMD9L-94	0			c.G1327T						.						67.0	69.0	68.0					7																	92763958		2203	4299	6502	SO:0001583	missense	219285	exon5			CCAACACAGCAAA	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1327G>T	7.37:g.92763958C>A	ENSP00000326247:p.Val443Leu	44	0		38	11	NM_152703	0	0	0	0	0	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882866	0.72410	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.17213	2.29;2.29;2.29	4.74	3.86	0.44501	.	0.000000	0.64402	D	0.000017	T	0.28433	0.0703	M	0.66939	2.045	0.45718	D	0.998629	D	0.60575	0.988	P	0.50754	0.649	T	0.08722	-1.0708	10	0.87932	D	0	-3.5502	12.7605	0.57361	0.0:0.919:0.0:0.081	.	443	Q8IVG5	SAM9L_HUMAN	L	443	ENSP00000326247:V443L;ENSP00000405760:V443L;ENSP00000408796:V443L	ENSP00000326247:V443L	V	-	1	0	SAMD9L	92601894	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.864000	0.69575	1.216000	0.43427	0.460000	0.39030	GTG	.		0.338	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
CALCR	799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	93073002	93073002	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:93073002C>A	ENST00000394441.1	-	8	1031	c.716G>T	c.(715-717)tGt>tTt	p.C239F	CALCR_ENST00000426151.1_Missense_Mutation_p.C239F|CALCR_ENST00000421592.1_Missense_Mutation_p.C255F|CALCR_ENST00000359558.2_Missense_Mutation_p.C273F|CALCR_ENST00000360249.4_Missense_Mutation_p.C255F	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	273					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GATCCCTTCACAGAGCATCCA	0.438																																					p.C273F		.											.	CALCR-664	0			c.G818T						.						144.0	134.0	137.0					7																	93073002		2203	4300	6503	SO:0001583	missense	799	exon11			CCTTCACAGAGCA	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.716G>T	7.37:g.93073002C>A	ENSP00000377959:p.Cys239Phe	129	0		158	62	NM_001164737	0	0	0	0	0	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493729	0.84962	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	4.94	4.94	0.65067	.	.	.	.	.	T	0.69387	0.3105	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76992	-0.2753	9	0.87932	D	0	.	18.7491	0.91806	0.0:1.0:0.0:0.0	.	273;239	F5H605;A4D1G6	.;.	F	273;255;255;239;239	ENSP00000352561:C273F;ENSP00000353385:C255F;ENSP00000399552:C255F;ENSP00000377959:C239F;ENSP00000389295:C239F	ENSP00000352561:C273F	C	-	2	0	CALCR	92910938	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	7.651000	0.83577	2.753000	0.94483	0.557000	0.71058	TGT	.		0.438	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
SHFM1	7979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	96324204	96324204	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:96324204C>A	ENST00000248566.2	-	2	204		c.e2-1		SHFM1_ENST00000444799.1_Splice_Site|SHFM1_ENST00000417009.1_Splice_Site|SHFM1_ENST00000413065.1_Splice_Site	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1						double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					CCAGCCCAGTCTAAAAATAGA	0.353								Homologous recombination																													.		.											.	SHFM1-227	0			c.77-1G>T						.						116.0	112.0	114.0					7																	96324204		2203	4300	6503	SO:0001630	splice_region_variant	7979	exon3			CCCAGTCTAAAAA	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"""deleted in split-hand/foot 1"""	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.77-1G>T	7.37:g.96324204C>A		51	0		48	22	NM_006304	0	0	0	0	0	Q13437|Q61067	Splice_Site	SNP	ENST00000248566.2	37	CCDS5646.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295829	0.81025	.	.	ENSG00000127922	ENST00000417009;ENST00000444799;ENST00000413065;ENST00000248566	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8871	0.92383	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHFM1	96162140	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.599000	0.82757	2.728000	0.93425	0.650000	0.86243	.	.		0.353	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	NM_006304	Intron
BAIAP2L1	55971	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	97944819	97944819	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:97944819C>A	ENST00000005260.8	-	7	807	c.592G>T	c.(592-594)Gat>Tat	p.D198Y	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	198	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTGCTTATCAACCAGAAAG	0.418																																					p.D198Y		.											.	BAIAP2L1-91	0			c.G592T						.						131.0	130.0	131.0					7																	97944819		2203	4300	6503	SO:0001583	missense	55971	exon7			GCTTATCAACCAG	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.592G>T	7.37:g.97944819C>A	ENSP00000005260:p.Asp198Tyr	99	0		116	34	NM_018842	0	0	0	0	0	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713724	0.89112	.	.	ENSG00000006453	ENST00000005260	T	0.28255	1.62	5.46	5.46	0.80206	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65438	-0.6168	10	0.72032	D	0.01	-3.6474	18.6649	0.91486	0.0:1.0:0.0:0.0	.	198	Q9UHR4	BI2L1_HUMAN	Y	198	ENSP00000005260:D198Y	ENSP00000005260:D198Y	D	-	1	0	AC093799.1	97782755	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.445000	0.80570	2.732000	0.93576	0.655000	0.94253	GAT	.		0.418	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
ZKSCAN5	23660	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	99129205	99129205	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:99129205delC	ENST00000394170.2	+	7	2104	c.1853delC	c.(1852-1854)tccfs	p.S618fs	ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.S618fs|ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.S618fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	618					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAGTGAGGTCCCACCTTGTT	0.557																																					p.S618fs		.											.	ZKSCAN5-91	0			c.1853delC						.						75.0	68.0	70.0					7																	99129205		2203	4300	6503	SO:0001589	frameshift_variant	23660	exon7			TGAGGTCCCACCT	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1853delC	7.37:g.99129205delC	ENSP00000377725:p.Ser618fs	169	0		322	90	NM_145102	0	0	0	0	0	A4D280|D6W5S9	Frame_Shift_Del	DEL	ENST00000394170.2	37	CCDS5667.1																																																																																			.		0.557	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569	
ZNF655	79027	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	99169990	99169990	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:99169990A>G	ENST00000394163.2	+	3	442	c.259A>G	c.(259-261)Aga>Gga	p.R87G	GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000493277.1_Missense_Mutation_p.R122G|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000252713.4_Missense_Mutation_p.R87G|ZNF655_ENST00000424881.1_Missense_Mutation_p.R122G	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	87					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TCCTGAGACTAGAGAAGTGTA	0.383																																					p.R122G		.											.	ZNF655-91	0			c.A364G						.						68.0	68.0	68.0					7																	99169990		2203	4299	6502	SO:0001583	missense	79027	exon4			GAGACTAGAGAAG	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.259A>G	7.37:g.99169990A>G	ENSP00000377718:p.Arg87Gly	57	0		90	5	NM_001085368	0	0	0	0	0	A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.633414	0.29068	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000422164;ENST00000424881;ENST00000394163	T;T;T;T;T	0.29917	3.55;3.51;1.55;3.51;3.55	4.47	3.28	0.37604	.	0.000000	0.50627	D	0.000110	T	0.16471	0.0396	N	0.24115	0.695	0.80722	D	1	P;P	0.42518	0.782;0.675	B;B	0.35278	0.199;0.098	T	0.03193	-1.1062	10	0.45353	T	0.12	-6.0079	7.1696	0.25710	0.6372:0.0:0.0:0.3628	.	122;87	Q8N720-3;Q8N720	.;ZN655_HUMAN	G	87;122;122;122;87	ENSP00000252713:R87G;ENSP00000419135:R122G;ENSP00000389260:R122G;ENSP00000393876:R122G;ENSP00000377718:R87G	ENSP00000252713:R87G	R	+	1	2	ZNF655	99007926	0.457000	0.25752	1.000000	0.80357	0.764000	0.43329	0.117000	0.15583	1.003000	0.39130	0.477000	0.44152	AGA	.		0.383	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494	
MYL10	93408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	101259519	101259519	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:101259519C>A	ENST00000223167.4	-	6	691	c.514G>T	c.(514-516)Ggt>Tgt	p.G172C		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	172	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TTGACGAAACCTTTCCCTTCA	0.557																																					p.G172C	Esophageal Squamous(24;575 709 17516 40384 51639)	.											.	MYL10-136	0			c.G514T						.						116.0	94.0	102.0					7																	101259519		2203	4300	6503	SO:0001583	missense	93408	exon6			CGAAACCTTTCCC	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.514G>T	7.37:g.101259519C>A	ENSP00000223167:p.Gly172Cys	157	0		173	55	NM_138403	0	0	0	0	0		Missense_Mutation	SNP	ENST00000223167.4	37	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130823	0.56828	.	.	ENSG00000106436	ENST00000223167	D	0.84146	-1.81	4.69	4.69	0.59074	EF-hand-like domain (1);	0.154878	0.41712	D	0.000825	D	0.96346	0.8808	H	0.99911	4.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98266	1.0501	10	0.87932	D	0	.	15.1667	0.72833	0.0:1.0:0.0:0.0	.	172	Q9BUA6	MYL10_HUMAN	C	172	ENSP00000223167:G172C	ENSP00000223167:G172C	G	-	1	0	MYL10	101046239	1.000000	0.71417	0.996000	0.52242	0.307000	0.27823	7.057000	0.76669	2.169000	0.68431	0.644000	0.83932	GGT	.		0.557	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403	
CUX1	1523	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	101844740	101844740	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:101844740G>T	ENST00000292535.7	+	18	2201	c.2163G>T	c.(2161-2163)caG>caT	p.Q721H	CUX1_ENST00000556210.1_Missense_Mutation_p.Q563H|CUX1_ENST00000549414.2_Missense_Mutation_p.Q699H|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.Q665H|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.Q619H|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.Q732H|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	721					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGCCCAGCAGGCTGCCCTCG	0.657																																					p.Q732H		.											.	CUX1-160	0			c.G2196T						.						103.0	104.0	103.0					7																	101844740		2203	4300	6503	SO:0001583	missense	1523	exon18			CCAGCAGGCTGCC	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2163G>T	7.37:g.101844740G>T	ENSP00000292535:p.Gln721His	167	1		260	95	NM_001202543	0	0	0	0	0	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104957	0.77096	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.72725	-0.59;-0.57;-0.68;-0.4;-0.62;-0.28	5.3	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.993;0.997	D	0.85685	0.1303	10	0.72032	D	0.01	-15.3666	14.8164	0.70039	0.0814:0.0:0.9186:0.0	.	721;732	P39880;P39880-3	CUX1_HUMAN;.	H	732;721;699;665;619;563	ENSP00000353401:Q732H;ENSP00000292535:Q721H;ENSP00000446630:Q699H;ENSP00000447373:Q665H;ENSP00000450125:Q619H;ENSP00000451558:Q563H	ENSP00000292535:Q721H	Q	+	3	2	CUX1	101631460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.407000	0.66363	2.472000	0.83506	0.655000	0.94253	CAG	.		0.657	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
Unknown	0	hgsc.bcm.edu;bcgsc.ca	37	7	101991206	101991206	+	IGR	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:101991206delG								Y_RNA (13824 upstream) : PRKRIP1 (13137 downstream)																							ATTGCCAGGAGGGGAAGCCAG	0.532																																					p.P239fs		.											.	SPDYE6-1	0			c.717delC						.																																			SO:0001628	intergenic_variant	729597	exon5			CCAGGAGGGGAAG																													7.37:g.101991206delG		61	0		105	64	NM_001146210	0	0	0	0	0		Frame_Shift_Del	DEL		37																																																																																				.	0	0.532								
RELN	5649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	103163855	103163855	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:103163855G>C	ENST00000428762.1	-	47	7632	c.7473C>G	c.(7471-7473)tgC>tgG	p.C2491W	RELN_ENST00000424685.2_Missense_Mutation_p.C2491W|RELN_ENST00000343529.5_Missense_Mutation_p.C2491W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2491	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCCTGGATGCATCTCCCAT	0.448																																					p.C2491W	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	0			c.C7473G						.						173.0	161.0	165.0					7																	103163855		2203	4300	6503	SO:0001583	missense	5649	exon47			CTGGATGCATCTC		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7473C>G	7.37:g.103163855G>C	ENSP00000392423:p.Cys2491Trp	144	0		139	42	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248528	0.59103	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24908	1.83;1.83;1.83	5.82	2.2	0.27929	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67699	-0.5603	10	0.87932	D	0	.	10.5624	0.45152	0.3994:0.0:0.6006:0.0	.	2491;2491	P78509-2;P78509	.;RELN_HUMAN	W	2491;2491;2491;8;2491	ENSP00000392423:C2491W;ENSP00000345694:C2491W;ENSP00000388446:C2491W	ENSP00000345694:C2491W	C	-	3	2	RELN	102951091	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.877000	0.39598	0.607000	0.29982	0.655000	0.94253	TGC	.		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	103193993	103193993	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:103193993A>G	ENST00000428762.1	-	40	6146	c.5987T>C	c.(5986-5988)aTg>aCg	p.M1996T	RELN_ENST00000424685.2_Missense_Mutation_p.M1996T|RELN_ENST00000343529.5_Missense_Mutation_p.M1996T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1996					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACAAACACCATAGCTGAATC	0.363																																					p.M1996T	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	0			c.T5987C						.						118.0	106.0	110.0					7																	103193993		2203	4300	6503	SO:0001583	missense	5649	exon40			AACACCATAGCTG		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5987T>C	7.37:g.103193993A>G	ENSP00000392423:p.Met1996Thr	105	1		123	36	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844810	0.71603	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26373	1.74;1.74;1.74	5.63	5.63	0.86233	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.65815	0.995;0.988	D;D	0.66847	0.947;0.944	T	0.50457	-0.8826	10	0.72032	D	0.01	.	16.1307	0.81436	1.0:0.0:0.0:0.0	.	1996;1996	P78509-2;P78509	.;RELN_HUMAN	T	1996	ENSP00000392423:M1996T;ENSP00000345694:M1996T;ENSP00000388446:M1996T	ENSP00000345694:M1996T	M	-	2	0	RELN	102981229	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.910000	0.92685	2.263000	0.75096	0.533000	0.62120	ATG	.		0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
PIK3CG	5294	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	106509035	106509035	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:106509035C>A	ENST00000359195.3	+	2	1339	c.1029C>A	c.(1027-1029)ggC>ggA	p.G343G	PIK3CG_ENST00000440650.2_Silent_p.G343G|PIK3CG_ENST00000496166.1_Silent_p.G343G	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	343					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATCCACGGCAAGGACCACG	0.597																																					p.G343G		.											.	PIK3CG-1316	0			c.C1029A						.						112.0	97.0	102.0					7																	106509035		2203	4300	6503	SO:0001819	synonymous_variant	5294	exon2			CCACGGCAAGGAC		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1029C>A	7.37:g.106509035C>A		245	1		289	106	NM_002649	0	0	0	0	0	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	CCDS5739.1																																																																																			.		0.597	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
SLC26A3	1811	broad.mit.edu	37	7	107408071	107408071	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:107408071C>G	ENST00000340010.5	-	20	2408	c.2224G>C	c.(2224-2226)Gat>Cat	p.D742H	SLC26A3_ENST00000422236.2_Missense_Mutation_p.D629H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	742					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGGTAAAATCAATTTTTCCA	0.323																																					p.D742H		.											.	SLC26A3-94	0			c.G2224C						.						84.0	86.0	85.0					7																	107408071		2203	4300	6503	SO:0001583	missense	1811	exon20			TAAAATCAATTTT	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.2224G>C	7.37:g.107408071C>G	ENSP00000345873:p.Asp742His	56	0		45	4	NM_000111	0	0	0	0	0		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	7.420	0.636493	0.14386	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93426	-3.22;-3.21	4.55	3.62	0.41486	.	0.643276	0.16103	N	0.229465	D	0.89798	0.6819	L	0.57536	1.79	0.22511	N	0.999035	B;B	0.15473	0.009;0.013	B;B	0.14023	0.01;0.007	T	0.81230	-0.1027	10	0.52906	T	0.07	.	6.3213	0.21219	0.0:0.7113:0.1885:0.1002	.	629;742	G5E9U3;P40879	.;S26A3_HUMAN	H	629;742	ENSP00000415817:D629H;ENSP00000345873:D742H	ENSP00000345873:D742H	D	-	1	0	SLC26A3	107195307	0.575000	0.26692	0.663000	0.29738	0.437000	0.31866	0.597000	0.24059	2.361000	0.80049	0.580000	0.79431	GAT	.		0.323	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	
SLC26A3	1811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	107431510	107431510	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:107431510G>C	ENST00000340010.5	-	5	737	c.553C>G	c.(553-555)Ctt>Gtt	p.L185V	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	185					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATTCCAGAAAGCACTGTGACT	0.493																																					p.L185V		.											.	SLC26A3-94	0			c.C553G						.						73.0	63.0	67.0					7																	107431510		2203	4300	6503	SO:0001583	missense	1811	exon5			CAGAAAGCACTGT	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.553C>G	7.37:g.107431510G>C	ENSP00000345873:p.Leu185Val	206	0		239	79	NM_000111	0	0	0	0	0		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293961	0.40594	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.95238	-3.55;-3.65	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	M	0.63208	1.945	0.51482	D	0.999926	D;D	0.60575	0.981;0.988	P;P	0.59487	0.848;0.858	D	0.95287	0.8391	10	0.45353	T	0.12	.	14.8865	0.70572	0.0688:0.0:0.9312:0.0	.	150;185	G5E9U3;P40879	.;S26A3_HUMAN	V	150;185	ENSP00000415817:L150V;ENSP00000345873:L185V	ENSP00000345873:L185V	L	-	1	0	SLC26A3	107218746	1.000000	0.71417	0.883000	0.34634	0.025000	0.11179	3.569000	0.53827	1.426000	0.47256	-0.216000	0.12614	CTT	.		0.493	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	
LAMB4	22798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	107684339	107684339	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:107684339G>T	ENST00000388781.3	-	29	4412	c.4329C>A	c.(4327-4329)atC>atA	p.I1443I	LAMB4_ENST00000205386.4_Silent_p.I1443I|LAMB4_ENST00000388780.3_Silent_p.I1443I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1443	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTATACTTTCGATCTGGAATG	0.348																																					p.I1443I		.											.	LAMB4-140	0			c.C4329A						.						111.0	100.0	104.0					7																	107684339		2203	4298	6501	SO:0001819	synonymous_variant	22798	exon29			ACTTTCGATCTGG	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4329C>A	7.37:g.107684339G>T		28	0		36	11	NM_007356	0	0	0	0	0	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																			.		0.348	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
NRCAM	4897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	107816985	107816985	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:107816985G>T	ENST00000425651.2	-	24	3040	c.3041C>A	c.(3040-3042)aCt>aAt	p.T1014N	NRCAM_ENST00000413765.2_Missense_Mutation_p.T995N|NRCAM_ENST00000351718.4_Missense_Mutation_p.T998N|NRCAM_ENST00000379022.4_Missense_Mutation_p.T1014N|NRCAM_ENST00000379028.3_Missense_Mutation_p.T1014N|NRCAM_ENST00000379024.4_Missense_Mutation_p.T995N	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1014	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATTTTTTAAAGTCCACCGTGT	0.358																																					p.T1014N		.											.	NRCAM-156	0			c.C3041A						.						104.0	105.0	105.0					7																	107816985		2203	4300	6503	SO:0001583	missense	4897	exon24			TTTAAAGTCCACC		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3041C>A	7.37:g.107816985G>T	ENSP00000401244:p.Thr1014Asn	51	0		62	21	NM_001037132	0	0	0	0	0	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581757	0.65992	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15	5.89	1.61	0.23674	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.200805	0.53938	D	0.000057	T	0.65544	0.2701	M	0.72118	2.19	0.41096	D	0.985638	D;P;B;B;B	0.54772	0.968;0.813;0.421;0.205;0.295	P;P;P;B;B	0.62649	0.905;0.602;0.529;0.394;0.127	T	0.61931	-0.6961	10	0.18710	T	0.47	.	8.1081	0.30898	0.4991:0.0:0.5009:0.0	.	1014;995;995;998;1014	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	N	1014;1014;995;1014;998;995;1014;1014	ENSP00000368314:T1014N;ENSP00000407858:T995N;ENSP00000325269:T998N;ENSP00000368310:T995N;ENSP00000401244:T1014N;ENSP00000368308:T1014N	ENSP00000325269:T998N	T	-	2	0	NRCAM	107604221	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.179000	0.42528	0.415000	0.25817	-0.142000	0.14014	ACT	.		0.358	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
NRCAM	4897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	107880406	107880406	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:107880406C>A	ENST00000425651.2	-	1	102	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	NRCAM_ENST00000413765.2_Missense_Mutation_p.D35Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D35Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D35Y|NRCAM_ENST00000379028.3_Missense_Mutation_p.D35Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D35Y	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	35					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TACTTACGATCAAGAGGTACT	0.463																																					p.D35Y		.											.	NRCAM-156	0			c.G103T						.						99.0	95.0	96.0					7																	107880406		2203	4300	6503	SO:0001583	missense	4897	exon1			TACGATCAAGAGG		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.103G>T	7.37:g.107880406C>A	ENSP00000401244:p.Asp35Tyr	82	0		72	24	NM_001037132	0	0	0	0	0	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907206	0.92107	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701;ENST00000442580;ENST00000419936;ENST00000456431;ENST00000418239	T;T;T;T;T;T;T;T;T;T	0.76578	0.31;0.56;0.24;0.36;0.31;0.32;-0.41;-0.97;-1.03;-1.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	L	0.55990	1.75	0.80722	D	1	D;P;P;B;P	0.53462	0.96;0.875;0.819;0.252;0.844	P;P;P;B;B	0.58721	0.844;0.509;0.535;0.142;0.321	D	0.84082	0.0385	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	35;35;35;35;35	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	Y	35	ENSP00000368314:D35Y;ENSP00000407858:D35Y;ENSP00000325269:D35Y;ENSP00000368310:D35Y;ENSP00000401244:D35Y;ENSP00000368308:D35Y;ENSP00000390421:D35Y;ENSP00000390868:D35Y;ENSP00000397544:D35Y;ENSP00000408203:D35Y	ENSP00000325269:D35Y	D	-	1	0	NRCAM	107667642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.020000	0.76419	2.941000	0.99782	0.655000	0.94253	GAT	.		0.463	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
PNPLA8	50640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	108119816	108119816	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:108119816C>A	ENST00000422087.1	-	11	2292	c.1886G>T	c.(1885-1887)gGt>gTt	p.G629V	PNPLA8_ENST00000453144.1_Missense_Mutation_p.G529V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.G567V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.G629V|PNPLA8_ENST00000426128.2_Missense_Mutation_p.G567V|PNPLA8_ENST00000436062.1_Missense_Mutation_p.G629V	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	629	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CAGAAGCAAACCTCCATCCTG	0.383																																					p.G629V		.											.	PNPLA8-135	0			c.G1886T						.						104.0	87.0	93.0					7																	108119816		2203	4300	6503	SO:0001583	missense	50640	exon9			AGCAAACCTCCAT	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1886G>T	7.37:g.108119816C>A	ENSP00000410804:p.Gly629Val	70	0		85	24	NM_001256008	0	0	0	0	0	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517560	0.85495	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	5.78	5.78	0.91487	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.96555	0.8876	H	0.95645	3.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97163	0.9839	10	0.87932	D	0	.	20.0106	0.97448	0.0:1.0:0.0:0.0	.	629	Q9NP80	PLPL8_HUMAN	V	564;629;567;629;529;629;529	ENSP00000257694:G629V;ENSP00000373380:G567V;ENSP00000410804:G629V;ENSP00000387789:G529V;ENSP00000406779:G629V;ENSP00000402274:G529V	ENSP00000257694:G629V	G	-	2	0	PNPLA8	107907052	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.928000	0.70088	2.722000	0.93159	0.655000	0.94253	GGT	.		0.383	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	
FOXP2	93986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	114294061	114294061	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:114294061A>T	ENST00000393494.2	+	10	1542	c.1263A>T	c.(1261-1263)aaA>aaT	p.K421N	FOXP2_ENST00000390668.3_Missense_Mutation_p.K445N|FOXP2_ENST00000403559.4_Missense_Mutation_p.K438N|FOXP2_ENST00000393489.3_Missense_Mutation_p.K329N|MIR3666_ENST00000607845.1_RNA|FOXP2_ENST00000360232.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393491.3_Missense_Mutation_p.K329N|FOXP2_ENST00000408937.3_Missense_Mutation_p.K446N|FOXP2_ENST00000393500.3_Missense_Mutation_p.K346N|FOXP2_ENST00000350908.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393498.2_Missense_Mutation_p.K400N			O15409	FOXP2_HUMAN	forkhead box P2	421					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CATCTCCCAAACCtgtaagtg	0.393																																					p.K446N		.											.	FOXP2-295	0			c.A1338T						.						164.0	151.0	156.0					7																	114294061		2203	4300	6503	SO:0001583	missense	93986	exon10			TCCCAAACCTGTA	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1263A>T	7.37:g.114294061A>T	ENSP00000377132:p.Lys421Asn	51	0		66	20	NM_001172767	0	0	0	0	0	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583102	0.65992	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T	0.65732	-0.17;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	L	0.34521	1.04	0.80722	D	1	P;P;B;D;D;P;D	0.61697	0.948;0.948;0.237;0.969;0.99;0.948;0.969	P;P;B;P;P;P;P	0.53313	0.533;0.533;0.143;0.634;0.723;0.533;0.723	T	0.66563	-0.5892	10	0.54805	T	0.06	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	420;438;329;421;445;421;446	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	N	346;421;446;438;421;398;329;421;445;329	ENSP00000377137:K346N;ENSP00000377132:K421N;ENSP00000386200:K446N;ENSP00000385069:K438N;ENSP00000265436:K421N;ENSP00000377129:K329N;ENSP00000353367:K421N;ENSP00000375084:K445N;ENSP00000377130:K329N	ENSP00000265436:K421N	K	+	3	2	FOXP2	114081297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.576000	0.82467	2.367000	0.80283	0.528000	0.53228	AAA	.		0.393	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	
ASZ1	136991	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	117062373	117062373	+	Silent	SNP	G	G	A	rs373691721		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:117062373G>A	ENST00000284629.2	-	3	308	c.246C>T	c.(244-246)ccC>ccT	p.P82P		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CATACATAAGGGGAGTCCATC	0.403																																					p.P82P		.											.	ASZ1-515	0			c.C246T						.						124.0	114.0	118.0					7																	117062373		2203	4300	6503	SO:0001819	synonymous_variant	136991	exon3			CATAAGGGGAGTC	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.246C>T	7.37:g.117062373G>A		90	0		106	41	NM_130768	0	0	0	0	0		Silent	SNP	ENST00000284629.2	37	CCDS5772.1																																																																																			.		0.403	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
ANKRD7	56311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	117864956	117864956	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:117864956G>T	ENST00000265224.4	+	1	227	c.72G>T	c.(70-72)aaG>aaT	p.K24N	ANKRD7_ENST00000433239.1_5'UTR|ANKRD7_ENST00000357099.4_Missense_Mutation_p.K24N|ANKRD7_ENST00000417525.1_5'UTR|ANKRD7_ENST00000477532.1_Intron	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	24					male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TTCGAGAAAAGGATTTAAAGA	0.453																																					p.K24N		.											.	ANKRD7-90	0			c.G72T						.						87.0	88.0	88.0					7																	117864956		1830	4092	5922	SO:0001583	missense	56311	exon1			AGAAAAGGATTTA	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.72G>T	7.37:g.117864956G>T	ENSP00000265224:p.Lys24Asn	243	0		302	101	NM_019644	0	0	0	0	0	B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111900	0.56398	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000486422	T;T;T	0.72051	0.95;1.05;-0.62	4.28	3.4	0.38934	Ankyrin repeat-containing domain (3);	0.626451	0.13108	U	0.413239	T	0.82093	0.4962	M	0.80982	2.52	0.35126	D	0.767542	D	0.71674	0.998	D	0.67725	0.953	D	0.83547	0.0099	10	0.41790	T	0.15	-5.431	10.2627	0.43436	0.0983:0.0:0.9017:0.0	.	24	Q92527	ANKR7_HUMAN	N	24	ENSP00000349612:K24N;ENSP00000265224:K24N;ENSP00000417353:K24N	ENSP00000265224:K24N	K	+	3	2	ANKRD7	117652192	0.789000	0.28775	0.002000	0.10522	0.166000	0.22503	-0.205000	0.09411	1.181000	0.42912	-0.284000	0.09977	AAG	.		0.453	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708	
KCND2	3751	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	119914836	119914836	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:119914836C>A	ENST00000331113.4	+	1	1115	c.150C>A	c.(148-150)acC>acA	p.T50T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	50					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)	TGAGTGGCACCCGCTTCCAGA	0.577																																					p.T50T		.											.	KCND2-517	0			c.C150A						.						128.0	137.0	134.0					7																	119914836		2203	4300	6503	SO:0001819	synonymous_variant	3751	exon1			TGGCACCCGCTTC	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.150C>A	7.37:g.119914836C>A		169	0		177	62	NM_012281	0	0	0	0	0	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	CCDS5776.1																																																																																			.		0.577	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
CPED1	79974	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	120770181	120770181	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:120770181C>A	ENST00000310396.5	+	12	1877	c.1410C>A	c.(1408-1410)ctC>ctA	p.L470L	CPED1_ENST00000450913.2_Silent_p.L470L|CPED1_ENST00000423795.1_Silent_p.L250L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	470						endoplasmic reticulum (GO:0005783)											GTTCTCAGCTCTTCCCATCTA	0.363																																					p.L470L		.											.	.	0			c.C1410A						.						125.0	120.0	121.0					7																	120770181		2203	4300	6503	SO:0001819	synonymous_variant	79974	exon11			TCAGCTCTTCCCA		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1410C>A	7.37:g.120770181C>A		62	0		82	25	NM_001105533	0	0	0	0	0	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	CCDS34739.1																																																																																			.		0.363	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
PTPRZ1	5803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	121624143	121624143	+	Nonsense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:121624143C>G	ENST00000393386.2	+	8	1311	c.900C>G	c.(898-900)taC>taG	p.Y300*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.Y300*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	300	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Y300Y(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTCCTCATACACTGGAAAGG	0.353																																					p.Y300X		.											.	PTPRZ1-699	1	Substitution - coding silent(1)	large_intestine(1)	c.C900G						.						124.0	121.0	122.0					7																	121624143		2203	4300	6503	SO:0001587	stop_gained	5803	exon8			CTCATACACTGGA	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.900C>G	7.37:g.121624143C>G	ENSP00000377047:p.Tyr300*	47	0		65	21	NM_001206838	0	0	0	0	0	A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259426	0.95368	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	6.08	-7.25	0.01470	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1881	0.89798	0.0:0.599:0.0:0.401	.	.	.	.	X	300	.	ENSP00000377047:Y300X	Y	+	3	2	PTPRZ1	121411379	0.001000	0.12720	0.750000	0.31169	0.982000	0.71751	-1.540000	0.02200	-1.440000	0.01960	-0.793000	0.03317	TAC	.		0.353	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
SLC13A1	6561	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	122757584	122757584	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:122757584C>A	ENST00000194130.2	-	14	1630	c.1591G>T	c.(1591-1593)Gta>Tta	p.V531L	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	531					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGATTTGCTACTGGTAGGAGG	0.368																																					p.V531L		.											.	SLC13A1-92	0			c.G1591T						.						135.0	125.0	128.0					7																	122757584		2203	4300	6503	SO:0001583	missense	6561	exon14			TTGCTACTGGTAG		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1591G>T	7.37:g.122757584C>A	ENSP00000194130:p.Val531Leu	235	1		261	109	NM_022444	0	0	0	0	0	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957231	0.92726	.	.	ENSG00000081800	ENST00000194130	T	0.03152	4.03	5.32	4.42	0.53409	.	0.056543	0.64402	D	0.000001	T	0.18593	0.0446	H	0.97732	4.065	0.80722	D	1	P;P	0.44044	0.825;0.825	P;P	0.46299	0.511;0.511	T	0.13098	-1.0522	10	0.87932	D	0	-8.6126	13.9921	0.64374	0.0:0.9229:0.0:0.0771	.	531;531	A4D0X1;Q9BZW2	.;S13A1_HUMAN	L	531	ENSP00000194130:V531L	ENSP00000194130:V531L	V	-	1	0	SLC13A1	122544820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.769000	0.68865	2.646000	0.89796	0.655000	0.94253	GTA	.		0.368	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	
ASB15	142685	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	123270074	123270074	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:123270074C>A	ENST00000451558.1	+	13	2016	c.1495C>A	c.(1495-1497)Cgt>Agt	p.R499S	ASB15_ENST00000540573.1_Missense_Mutation_p.R499S|ASB15_ENST00000275699.3_Missense_Mutation_p.R499S|ASB15_ENST00000451215.1_Missense_Mutation_p.R499S|ASB15_ENST00000434204.1_Missense_Mutation_p.R499S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	499					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R499S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CAGAGTTACTCGTGTACTAAT	0.358																																					p.R499S		.											.	ASB15-228	1	Substitution - Missense(1)	lung(1)	c.C1495A						.						145.0	143.0	143.0					7																	123270074		2203	4300	6503	SO:0001583	missense	142685	exon9			GTTACTCGTGTAC	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1495C>A	7.37:g.123270074C>A	ENSP00000397655:p.Arg499Ser	89	0		102	30	NM_080928	0	0	0	0	0	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849191	0.32699	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000275699	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000002	T	0.75057	0.3798	M	0.73217	2.22	0.25618	N	0.986435	D	0.55605	0.972	P	0.56700	0.804	T	0.71258	-0.4646	10	0.54805	T	0.06	14.3393	10.4831	0.44706	0.1333:0.7988:0.0:0.0679	.	499	Q8WXK1	ASB15_HUMAN	S	499	ENSP00000397655:R499S;ENSP00000390963:R499S;ENSP00000416433:R499S;ENSP00000438643:R499S;ENSP00000275699:R499S	ENSP00000275699:R499S	R	+	1	0	ASB15	123057310	0.985000	0.35326	0.466000	0.27168	0.051000	0.14879	1.586000	0.36611	2.885000	0.99019	0.655000	0.94253	CGT	.		0.358	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1		
WASL	8976	broad.mit.edu;bcgsc.ca	37	7	123329097	123329097	+	Splice_Site	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:123329097T>C	ENST00000223023.4	-	10	1787	c.1455A>G	c.(1453-1455)tcA>tcG	p.S485S		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	485	Asp-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						tctctctACCTGAAGAATGAA	0.428																																					p.S485S		.											.	WASL-90	0			c.A1455G						.						152.0	161.0	158.0					7																	123329097		2203	4300	6503	SO:0001630	splice_region_variant	8976	exon10			TCTACCTGAAGAA	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1456+1A>G	7.37:g.123329097T>C		41	0		46	4	NM_003941	0	0	0	0	0	A1JUI9|Q7Z746	Silent	SNP	ENST00000223023.4	37	CCDS34743.1																																																																																			.		0.428	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	Silent
GRM8	2918	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	126544129	126544129	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:126544129C>A	ENST00000339582.2	-	5	1723	c.915G>T	c.(913-915)tgG>tgT	p.W305C	GRM8_ENST00000444921.2_Missense_Mutation_p.W305C|GRM8_ENST00000358373.3_Missense_Mutation_p.W305C|GRM8_ENST00000405249.1_Missense_Mutation_p.W305C|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	305					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CTGAGCCAATCCAGAGAAAAT	0.388										HNSCC(24;0.065)																											p.W305C		.											.	GRM8-581	0			c.G915T						.						111.0	107.0	108.0					7																	126544129		2203	4300	6503	SO:0001583	missense	2918	exon4			GCCAATCCAGAGA		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.915G>T	7.37:g.126544129C>A	ENSP00000344173:p.Trp305Cys	179	2		185	84	NM_000845	0	0	0	0	0	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181390	0.78677	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.165875	0.47093	D	0.000250	D	0.94902	0.8352	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.83275	0.992;0.949;0.996	D	0.96298	0.9219	10	0.87932	D	0	.	17.9065	0.88919	0.0:1.0:0.0:0.0	.	305;305;305	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	C	305	ENSP00000344173:W305C;ENSP00000409790:W305C;ENSP00000351142:W305C;ENSP00000385731:W305C	ENSP00000344173:W305C	W	-	3	0	GRM8	126331365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.720000	0.84759	2.467000	0.83353	0.508000	0.49915	TGG	.		0.388	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
GRM8	2918	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	126882813	126882813	+	Missense_Mutation	SNP	C	C	A	rs371903212		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:126882813C>A	ENST00000339582.2	-	2	1254	c.446G>T	c.(445-447)gGc>gTc	p.G149V	GRM8_ENST00000444921.2_Missense_Mutation_p.G149V|GRM8_ENST00000358373.3_Missense_Mutation_p.G149V|GRM8_ENST00000405249.1_Missense_Mutation_p.G149V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	149					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ACCTATGACGCCAGAAATCTT	0.433										HNSCC(24;0.065)																											p.G149V		.											.	GRM8-581	0			c.G446T						.	C	VAL/GLY,VAL/GLY	1,4405	2.1+/-5.4	0,1,2202	159.0	132.0	141.0		446,446	5.6	1.0	7		141	0,8600		0,0,4300	no	missense,missense	GRM8	NM_000845.2,NM_001127323.1	109,109	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	149/909,149/909	126882813	1,13005	2203	4300	6503	SO:0001583	missense	2918	exon1			ATGACGCCAGAAA		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.446G>T	7.37:g.126882813C>A	ENSP00000344173:p.Gly149Val	194	1		259	109	NM_000845	0	0	0	0	0	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300988	0.81136	2.27E-4	0.0	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.6	5.6	0.85130	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92004	0.7467	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.971	D;D	0.91635	0.999;0.91	D	0.92716	0.6187	10	0.87932	D	0	.	18.6042	0.91261	0.0:1.0:0.0:0.0	.	149;149	O00222-2;O00222	.;GRM8_HUMAN	V	149	ENSP00000344173:G149V;ENSP00000409790:G149V;ENSP00000351142:G149V;ENSP00000385731:G149V;ENSP00000415522:G149V	ENSP00000344173:G149V	G	-	2	0	GRM8	126670049	1.000000	0.71417	0.960000	0.40013	0.991000	0.79684	6.087000	0.71362	2.646000	0.89796	0.650000	0.86243	GGC	.		0.433	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
PAX4	5078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	127253093	127253093	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:127253093C>A	ENST00000341640.2	-	6	879	c.674G>T	c.(673-675)tGg>tTg	p.W225L	PAX4_ENST00000338516.3_Missense_Mutation_p.W233L|PAX4_ENST00000378740.2_Missense_Mutation_p.W225L|PAX4_ENST00000463946.1_Missense_Mutation_p.W223L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	233					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGCATTTCCCACTTGAGCTT	0.527																																					p.W225L	Ovarian(113;737 1605 7858 27720 34092)	.											.	PAX4-227	0			c.G674T						.						265.0	194.0	218.0					7																	127253093		2203	4300	6503	SO:0001583	missense	5078	exon6			ATTTCCCACTTGA		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.674G>T	7.37:g.127253093C>A	ENSP00000339906:p.Trp225Leu	167	0		196	68	NM_006193	0	0	0	0	0	O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125880	0.56721	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.94931	-3.56;-3.56;-3.56	4.86	4.86	0.63082	Homeodomain-like (1);	0.439683	0.21446	N	0.074415	D	0.92224	0.7534	L	0.55990	1.75	0.35606	D	0.80828	B;B;B;B	0.31485	0.325;0.278;0.323;0.275	B;B;B;B	0.36186	0.108;0.051;0.055;0.219	D	0.93063	0.6476	10	0.48119	T	0.1	.	9.4796	0.38893	0.0:0.9014:0.0:0.0986	.	225;223;233;223	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	L	225;233;233;223	ENSP00000339906:W225L;ENSP00000344297:W233L;ENSP00000451923:W223L	ENSP00000344297:W233L	W	-	2	0	PAX4	127040329	.	.	1.000000	0.80357	0.991000	0.79684	.	.	2.405000	0.81733	0.555000	0.69702	TGG	.		0.527	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1		
PAX4	5078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	127253928	127253928	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:127253928C>A	ENST00000341640.2	-	4	625	c.420G>T	c.(418-420)ttG>ttT	p.L140F	PAX4_ENST00000338516.3_Missense_Mutation_p.L148F|PAX4_ENST00000378740.2_Missense_Mutation_p.L140F|PAX4_ENST00000463946.1_Missense_Mutation_p.L138F	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	148					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CAGCTGGAGCCAAAACAGCTG	0.582																																					p.L140F	Ovarian(113;737 1605 7858 27720 34092)	.											.	PAX4-227	0			c.G420T						.						70.0	59.0	63.0					7																	127253928		2203	4300	6503	SO:0001583	missense	5078	exon4			TGGAGCCAAAACA		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.420G>T	7.37:g.127253928C>A	ENSP00000339906:p.Leu140Phe	62	0		90	22	NM_006193	0	0	0	0	0	O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326235	0.24080	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.94650	-3.48;-3.44;-3.36	5.18	0.0201	0.14123	.	0.741033	0.11322	N	0.575984	D	0.89979	0.6872	L	0.32530	0.975	0.20403	N	0.999909	B;D;B;P	0.61080	0.134;0.989;0.003;0.713	B;P;B;B	0.50440	0.183;0.641;0.01;0.308	T	0.81728	-0.0800	10	0.19147	T	0.46	.	3.5166	0.07727	0.1716:0.4502:0.0:0.3782	.	140;138;148;138	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	F	140;148;148;138	ENSP00000339906:L140F;ENSP00000344297:L148F;ENSP00000451923:L138F	ENSP00000344297:L148F	L	-	3	2	PAX4	127041164	0.578000	0.26717	0.912000	0.35992	0.017000	0.09413	-0.040000	0.12104	0.299000	0.22661	-0.143000	0.13931	TTG	.		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1		
LRRC4	64101	ucsc.edu;bcgsc.ca	37	7	127669562	127669562	+	Missense_Mutation	SNP	G	G	T	rs556055955		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:127669562G>T	ENST00000249363.3	-	2	1389	c.1132C>A	c.(1132-1134)Cct>Act	p.P378T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	378	Ig-like.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GAGGACATAGGGGGAGTCCGA	0.587																																					p.P378T		.											.	LRRC4-154	0			c.C1132A						.						85.0	75.0	78.0					7																	127669562		2203	4300	6503	SO:0001583	missense	64101	exon2			ACATAGGGGGAGT	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1132C>A	7.37:g.127669562G>T	ENSP00000249363:p.Pro378Thr	195	3		225	90	NM_022143	0	0	0	0	0	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570783	0.13560	.	.	ENSG00000128594	ENST00000249363	T	0.74315	-0.83	4.4	4.4	0.53042	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.076518	0.52532	D	0.000062	T	0.75177	0.3814	M	0.82716	2.605	0.39300	D	0.96489	B	0.17268	0.021	B	0.21546	0.035	T	0.77525	-0.2555	10	0.87932	D	0	.	10.3862	0.44140	0.0:0.1989:0.8011:0.0	.	378	Q9HBW1	LRRC4_HUMAN	T	378	ENSP00000249363:P378T	ENSP00000249363:P378T	P	-	1	0	LRRC4	127456798	0.999000	0.42202	0.999000	0.59377	0.983000	0.72400	0.868000	0.27982	2.268000	0.75426	0.655000	0.94253	CCT	.		0.587	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143	
FAM71F2	346653	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	128315858	128315858	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:128315858G>T	ENST00000480462.1	+	2	416	c.310G>T	c.(310-312)Ggt>Tgt	p.G104C	FAM71F2_ENST00000378704.3_Missense_Mutation_p.G95C|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.G104C			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	104										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CTGGCCCCAGGGTCCATTTAC	0.607																																					p.G104C		.											.	.	0			c.G310T						.						50.0	48.0	48.0					7																	128315858		1934	4142	6076	SO:0001583	missense	346653	exon2			CCCCAGGGTCCAT	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.310G>T	7.37:g.128315858G>T	ENSP00000420140:p.Gly104Cys	47	0		56	26	NM_001012454	0	0	0	0	0	Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127414	0.37533	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001;ENST00000477515	T;T;T;T;T	0.60040	3.12;3.11;3.12;3.12;0.22	4.67	0.842	0.18927	.	0.764422	0.11562	N	0.551679	T	0.68339	0.2990	M	0.73962	2.25	0.09310	N	1	D;D	0.67145	0.995;0.996	P;P	0.60473	0.875;0.754	T	0.56353	-0.7993	10	0.87932	D	0	-12.4308	6.7809	0.23646	0.3885:0.0:0.6115:0.0	.	95;104	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	C	95;104;95;95;104	ENSP00000418907:G95C;ENSP00000420140:G104C;ENSP00000367976:G95C;ENSP00000401654:G95C;ENSP00000419649:G104C	ENSP00000367976:G95C	G	+	1	0	FAM71F2	128103094	0.705000	0.27846	0.048000	0.18961	0.576000	0.36127	1.047000	0.30367	0.049000	0.15920	-0.262000	0.10625	GGT	.		0.607	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1		
SMO	6608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	128845593	128845593	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:128845593C>T	ENST00000249373.3	+	4	1170	c.890C>T	c.(889-891)gCa>gTa	p.A297V		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	297					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GTCTGCCGTGCAGATGGCACC	0.582			Mis		skin basal cell																																p.A297V		.		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	.	SMO-2451	0			c.C890T						.						52.0	50.0	51.0					7																	128845593		2203	4300	6503	SO:0001583	missense	6608	exon4			GCCGTGCAGATGG	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.890C>T	7.37:g.128845593C>T	ENSP00000249373:p.Ala297Val	37	0		85	33	NM_005631	0	0	0	0	0	A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565583	0.65651	.	.	ENSG00000128602	ENST00000249373	D	0.82433	-1.61	5.57	5.57	0.84162	GPCR, family 2-like (1);	0.143965	0.64402	D	0.000008	T	0.80696	0.4672	L	0.46157	1.445	0.41976	D	0.990772	P	0.43826	0.818	P	0.44561	0.453	T	0.79617	-0.1729	10	0.33940	T	0.23	.	14.1706	0.65508	0.0:0.8503:0.1497:0.0	.	297	Q99835	SMO_HUMAN	V	297	ENSP00000249373:A297V	ENSP00000249373:A297V	A	+	2	0	SMO	128632829	1.000000	0.71417	0.974000	0.42286	0.990000	0.78478	4.401000	0.59716	2.620000	0.88729	0.491000	0.48974	GCA	.		0.582	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631	
SMO	6608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	128846172	128846172	+	Missense_Mutation	SNP	C	C	G	rs374812951		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:128846172C>G	ENST00000249373.3	+	5	1382	c.1102C>G	c.(1102-1104)Ccc>Gcc	p.P368A		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	368					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CTGGTCACTCCCCTTTGTCCT	0.587			Mis		skin basal cell																																p.P368A		.		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	.	SMO-2451	0			c.C1102G						.	C	ALA/PRO	1,4405	2.1+/-5.4	0,1,2202	212.0	171.0	185.0		1102	5.7	1.0	7		185	0,8600		0,0,4300	no	missense	SMO	NM_005631.4	27	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	368/788	128846172	1,13005	2203	4300	6503	SO:0001583	missense	6608	exon5			TCACTCCCCTTTG	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1102C>G	7.37:g.128846172C>G	ENSP00000249373:p.Pro368Ala	166	0		202	79	NM_005631	0	0	0	0	0	A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565284	0.86439	2.27E-4	0.0	ENSG00000128602	ENST00000249373	D	0.91577	-2.87	5.73	5.73	0.89815	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.96500	0.8858	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.943	D	0.97105	0.9800	10	0.87932	D	0	.	17.0441	0.86497	0.0:1.0:0.0:0.0	.	368;368	A4D1K5;Q99835	.;SMO_HUMAN	A	368	ENSP00000249373:P368A	ENSP00000249373:P368A	P	+	1	0	SMO	128633408	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.792000	0.85828	2.708000	0.92522	0.555000	0.69702	CCC	.		0.587	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631	
PLXNA4	91584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	131865384	131865384	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:131865384G>T	ENST00000359827.3	-	19	4562	c.3600C>A	c.(3598-3600)ctC>ctA	p.L1200L	PLXNA4_ENST00000321063.4_Silent_p.L1200L			Q9HCM2	PLXA4_HUMAN	plexin A4	1200	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGACTCGCAGAGCAGCTGGA	0.607																																					p.L1200L		.											.	PLXNA4-91	0			c.C3600A						.						63.0	68.0	66.0					7																	131865384		2136	4255	6391	SO:0001819	synonymous_variant	91584	exon19			CTCGCAGAGCAGC	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3600C>A	7.37:g.131865384G>T		147	0		194	76	NM_020911	0	0	0	0	0	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																			.		0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	131912280	131912280	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:131912280C>G	ENST00000359827.3	-	7	2774	c.1812G>C	c.(1810-1812)ctG>ctC	p.L604L	PLXNA4_ENST00000321063.4_Silent_p.L604L			Q9HCM2	PLXA4_HUMAN	plexin A4	604					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCCCACGACCAGCCCATCCA	0.602																																					p.L604L		.											.	PLXNA4-91	0			c.G1812C						.						73.0	77.0	75.0					7																	131912280		2084	4220	6304	SO:0001819	synonymous_variant	91584	exon7			CACGACCAGCCCA	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1812G>C	7.37:g.131912280C>G		213	0		244	86	NM_020911	0	0	0	0	0	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																			.		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
CNOT4	4850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	135082955	135082955	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:135082955G>C	ENST00000315544.5	-	8	1124	c.845C>G	c.(844-846)tCt>tGt	p.S282C	CNOT4_ENST00000414802.1_Missense_Mutation_p.S282C|CNOT4_ENST00000451834.1_Missense_Mutation_p.S279C|CNOT4_ENST00000356162.4_Missense_Mutation_p.S282C|CNOT4_ENST00000423368.2_Missense_Mutation_p.S282C|CNOT4_ENST00000541284.1_Missense_Mutation_p.S282C|CNOT4_ENST00000428680.2_Missense_Mutation_p.S279C|CNOT4_ENST00000361528.4_Missense_Mutation_p.S279C	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	282					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TATACTGAGAGAATCTGAAGG	0.343																																					p.S282C	Ovarian(51;766 1130 5502 35047 50875)	.											.	CNOT4-90	0			c.C845G						.						96.0	88.0	90.0					7																	135082955		1801	4072	5873	SO:0001583	missense	4850	exon8			CTGAGAGAATCTG	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.845C>G	7.37:g.135082955G>C	ENSP00000326731:p.Ser282Cys	41	0		62	24	NM_001190850	0	0	0	0	0	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364335	0.82463	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.22	5.22	0.72569	.	0.156506	0.64402	D	0.000015	T	0.63920	0.2552	N	0.24115	0.695	0.58432	D	0.99999	D;D;D;D;D;D	0.69078	0.983;0.997;0.983;0.99;0.972;0.965	P;P;P;P;P;P	0.55824	0.615;0.785;0.536;0.726;0.726;0.726	T	0.68716	-0.5335	10	0.72032	D	0.01	-6.1863	17.7136	0.88328	0.0:0.0:1.0:0.0	.	279;282;282;279;282;279	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	C	282;279;282;282;279;282;282;279;282	ENSP00000445508:S282C;ENSP00000388491:S279C;ENSP00000406777:S282C;ENSP00000354673:S279C;ENSP00000416532:S282C;ENSP00000348485:S282C;ENSP00000399108:S279C;ENSP00000326731:S282C	ENSP00000262563:S282C	S	-	2	0	CNOT4	134733495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.588000	0.87417	0.650000	0.86243	TCT	.		0.343	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316	
PTN	5764	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	136912824	136912824	+	Splice_Site	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:136912824T>A	ENST00000348225.2	-	5	879		c.e5-2		PTN_ENST00000393083.2_Splice_Site	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin						bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TAGATTCTGCTGTGATTACaa	0.363																																					.		.											.	PTN-516	0			c.452-2A>T						.						168.0	147.0	154.0					7																	136912824		2202	4299	6501	SO:0001630	splice_region_variant	5764	exon6			TTCTGCTGTGATT	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.452-2A>T	7.37:g.136912824T>A		10	0		17	7	NM_002825	0	0	0	0	0	Q5U0B0|Q6ICQ5|Q9UCC6	Splice_Site	SNP	ENST00000348225.2	37	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054946	0.36277	.	.	ENSG00000105894	ENST00000348225	.	.	.	5.55	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7736	0.18267	0.0:0.1665:0.0:0.8335	.	.	.	.	.	-1	.	.	.	-	.	.	PTN	136563364	1.000000	0.71417	0.973000	0.42090	0.521000	0.34408	1.852000	0.39348	2.128000	0.65567	0.459000	0.35465	.	.		0.363	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825	Intron
SVOPL	136306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	138363243	138363243	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:138363243G>A	ENST00000419765.3	-	2	143	c.110C>T	c.(109-111)gCa>gTa	p.A37V	SVOPL_ENST00000421622.1_Missense_Mutation_p.A37V	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	37						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGTCTCCACTGCATCTTCCAC	0.493																																					p.A37V		.											.	SVOPL-68	0			c.C110T						.						61.0	59.0	60.0					7																	138363243		692	1591	2283	SO:0001583	missense	136306	exon2			TCCACTGCATCTT	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.110C>T	7.37:g.138363243G>A	ENSP00000405482:p.Ala37Val	81	0		99	36	NM_001139456	0	0	0	0	0		Missense_Mutation	SNP	ENST00000419765.3	37	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	g	17.82	3.482115	0.63849	.	.	ENSG00000157703	ENST00000421622;ENST00000419765	T;T	0.66815	-0.23;0.25	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);	.	.	.	.	T	0.80380	0.4612	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.65684	0.937	T	0.81709	-0.0809	9	0.54805	T	0.06	-14.7956	15.9078	0.79445	0.0:0.0:1.0:0.0	.	37	Q8N434	SVOPL_HUMAN	V	37	ENSP00000412830:A37V;ENSP00000405482:A37V	ENSP00000405482:A37V	A	-	2	0	SVOPL	138013783	1.000000	0.71417	0.170000	0.22879	0.140000	0.21249	7.987000	0.88182	2.493000	0.84123	0.401000	0.26515	GCA	.		0.493	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	
KDM7A	80853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	139791751	139791751	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:139791751A>C	ENST00000397560.2	-	19	2681	c.2584T>G	c.(2584-2586)Tca>Gca	p.S862A	Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		862					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTCAGGTTTGAATTCTGCATA	0.483																																					p.S862A		.											.	JHDM1D-91	0			c.T2584G						.						118.0	109.0	112.0					7																	139791751		1907	4127	6034	SO:0001583	missense	80853	exon19			GGTTTGAATTCTG																												ENST00000397560.2:c.2584T>G	7.37:g.139791751A>C	ENSP00000380692:p.Ser862Ala	176	0		219	73	NM_030647	0	0	0	0	0	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	A	9.752	1.167618	0.21621	.	.	ENSG00000006459	ENST00000397560	T	0.11712	2.75	5.9	0.189	0.15119	.	0.906685	0.09531	N	0.789469	T	0.09992	0.0245	L	0.47716	1.5	0.43750	D	0.996256	B	0.17465	0.022	B	0.14023	0.01	T	0.20075	-1.0286	10	0.18276	T	0.48	-0.6275	9.9654	0.41721	0.6894:0.0:0.3106:0.0	.	862	Q6ZMT4	KDM7_HUMAN	A	862	ENSP00000380692:S862A	ENSP00000380692:S862A	S	-	1	0	JHDM1D	139438220	1.000000	0.71417	0.720000	0.30636	0.564000	0.35744	1.897000	0.39799	0.101000	0.17610	0.533000	0.62120	TCA	.		0.483	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1		
KDM7A	80853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	139810956	139810956	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:139810956G>A	ENST00000397560.2	-	11	1464	c.1367C>T	c.(1366-1368)cCa>cTa	p.P456L	JHDM1D_ENST00000006967.5_Missense_Mutation_p.P456L	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		456					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AACATTGTCTGGAATTTCAAA	0.289																																					p.P456L		.											.	JHDM1D-91	0			c.C1367T						.						117.0	108.0	111.0					7																	139810956		1810	4075	5885	SO:0001583	missense	80853	exon11			TTGTCTGGAATTT																												ENST00000397560.2:c.1367C>T	7.37:g.139810956G>A	ENSP00000380692:p.Pro456Leu	35	0		67	10	NM_030647	0	0	0	0	0	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964996	0.92855	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.60424	0.19;0.19	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80329	-0.1428	10	0.87932	D	0	-13.1954	19.5257	0.95206	0.0:0.0:1.0:0.0	.	456	Q6ZMT4	KDM7_HUMAN	L	456	ENSP00000380692:P456L;ENSP00000006967:P456L	ENSP00000006967:P456L	P	-	2	0	JHDM1D	139457425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.683000	0.91414	0.655000	0.94253	CCA	.		0.289	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1		
DENND2A	27147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	140246647	140246647	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:140246647C>A	ENST00000275884.6	-	12	2547	c.2130G>T	c.(2128-2130)ctG>ctT	p.L710L	DENND2A_ENST00000496613.1_Silent_p.L710L|DENND2A_ENST00000492720.1_Silent_p.L710L|DENND2A_ENST00000537639.1_Silent_p.L710L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	710	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGGTTTTGCCCAGGGCTGGGA	0.552																																					p.L710L		.											.	DENND2A-138	0			c.G2130T						.						58.0	62.0	60.0					7																	140246647		1979	4175	6154	SO:0001819	synonymous_variant	27147	exon11			TTTGCCCAGGGCT	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2130G>T	7.37:g.140246647C>A		193	0		285	77	NM_015689	0	0	0	0	0	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																			.		0.552	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
TAS2R3	50831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	141464522	141464522	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:141464522G>T	ENST00000247879.2	+	1	626	c.564G>T	c.(562-564)tgG>tgT	p.W188C	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	188					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GGACTCTGTGGTACCTGCCTC	0.498																																					p.W188C		.											.	TAS2R3-90	0			c.G564T						.						148.0	130.0	136.0					7																	141464522		2203	4300	6503	SO:0001583	missense	50831	exon1			TCTGTGGTACCTG	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.564G>T	7.37:g.141464522G>T	ENSP00000247879:p.Trp188Cys	169	0		325	88	NM_016943	0	0	0	0	0	A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937987	0.52972	.	.	ENSG00000127362	ENST00000247879	T	0.36520	1.25	5.93	5.0	0.66597	.	0.259604	0.32430	N	0.006101	T	0.56731	0.2005	M	0.74647	2.275	0.50813	D	0.999892	D	0.89917	1.0	D	0.81914	0.995	T	0.53078	-0.8489	10	0.37606	T	0.19	.	11.5861	0.50918	0.0:0.0:0.8224:0.1776	.	188	Q9NYW6	TA2R3_HUMAN	C	188	ENSP00000247879:W188C	ENSP00000247879:W188C	W	+	3	0	TAS2R3	141110991	0.845000	0.29573	0.949000	0.38748	0.834000	0.47266	1.935000	0.40173	2.814000	0.96858	0.563000	0.77884	TGG	.		0.498	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1		
TAS2R38	5726	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	141672602	141672602	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:141672602G>T	ENST00000547270.1	-	1	971	c.888C>A	c.(886-888)atC>atA	p.I296I		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	296			I -> V (in dbSNP:rs10246939). {ECO:0000269|PubMed:12595690}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CTGAGATCAGGATGGCTGCAT	0.542																																					p.I296I		.											.	TAS2R38-92	0			c.C888A						.						80.0	70.0	73.0					7																	141672602		2203	4300	6503	SO:0001819	synonymous_variant	5726	exon1			GATCAGGATGGCT	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.888C>A	7.37:g.141672602G>T		143	2		234	56	NM_176817	0	0	0	0	0	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	ENST00000547270.1	37	CCDS34765.1																																																																																			.		0.542	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817	
MGAM	8972	hgsc.bcm.edu;bcgsc.ca	37	7	141759759	141759759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:141759759delG	ENST00000549489.2	+	33	4147	c.4052delG	c.(4051-4053)tggfs	p.W1351fs	MGAM_ENST00000475668.2_Frame_Shift_Del_p.W1351fs	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1351	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACATTGTCTGGGGAAAGGTA	0.517																																					p.W1351fs		.											.	MGAM-70	0			c.4052delG						.						35.0	30.0	32.0					7																	141759759		1927	4131	6058	SO:0001589	frameshift_variant	8972	exon33			TTGTCTGGGGAAA	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4052delG	7.37:g.141759759delG	ENSP00000447378:p.Trp1351fs	253	2		371	110	NM_004668	0	0	0	0	0	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000549489.2	37	CCDS47727.1																																																																																			.		0.517	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
MGAM	8972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	141805635	141805635	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:141805635G>A	ENST00000549489.2	+	48	5613	c.5518G>A	c.(5518-5520)Gac>Aac	p.D1840N	MGAM_ENST00000475668.2_Missense_Mutation_p.D2736N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1840					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGATGTGACTGACAGAAACAT	0.373																																					p.D1840N		.											.	MGAM-70	0			c.G5518A						.						128.0	120.0	122.0					7																	141805635		1855	4109	5964	SO:0001583	missense	8972	exon48			GTGACTGACAGAA	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5518G>A	7.37:g.141805635G>A	ENSP00000447378:p.Asp1840Asn	94	0		153	30	NM_004668	0	0	0	0	0	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	1.421	-0.572878	0.03882	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.88741	-2.42	5.43	-4.28	0.03732	.	.	.	.	.	T	0.75488	0.3856	N	0.20807	0.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62077	-0.6930	9	0.05525	T	0.97	.	12.4456	0.55649	0.4459:0.0:0.5541:0.0	.	1840	O43451	MGA_HUMAN	N	1840;2737	ENSP00000447378:D1840N	ENSP00000373973:D1840N	D	+	1	0	MGAM	141452104	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.058000	0.11750	-0.621000	0.05633	-0.812000	0.03155	GAC	.		0.373	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
PRSS58	136541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	141955029	141955029	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:141955029T>A	ENST00000552471.1	-	3	601	c.282A>T	c.(280-282)tcA>tcT	p.S94S	PRSS58_ENST00000547058.2_Silent_p.S94S			Q8IYP2	PRS58_HUMAN	protease, serine, 58	94	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TAGAAGTGACTGAGAAGTGTG	0.418																																					p.S94S		.											.	PRSS58-24	0			c.A282T						.						211.0	191.0	198.0					7																	141955029		2203	4300	6503	SO:0001819	synonymous_variant	136541	exon4			AGTGACTGAGAAG		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.282A>T	7.37:g.141955029T>A		122	0		234	59	NM_001001317	0	0	0	0	0	B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	CCDS5871.1																																																																																			.		0.418	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	
TRPV5	56302	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	142606676	142606676	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142606676C>A	ENST00000265310.1	-	14	2223	c.1875G>T	c.(1873-1875)ctG>ctT	p.L625L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	625					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGCGGTCCCCCAGCCCGAATT	0.627																																					p.L625L		.											.	TRPV5-177	0			c.G1875T						.						89.0	77.0	81.0					7																	142606676		2203	4300	6503	SO:0001819	synonymous_variant	56302	exon14			GTCCCCCAGCCCG	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1875G>T	7.37:g.142606676C>A		104	0		126	38	NM_019841	0	0	0	0	0	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	CCDS5875.1																																																																																			.		0.627	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
KEL	3792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	142638380	142638380	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142638380C>A	ENST00000355265.2	-	19	2632	c.2158G>T	c.(2158-2160)Ggt>Tgt	p.G720C		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	720					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAGAGAGCACCACGTGCACAG	0.597																																					p.G720C		.											.	KEL-93	0			c.G2158T						.						93.0	96.0	95.0					7																	142638380		2203	4300	6503	SO:0001583	missense	3792	exon19			GAGCACCACGTGC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2158G>T	7.37:g.142638380C>A	ENSP00000347409:p.Gly720Cys	114	0		156	51	NM_000420	0	0	0	0	0	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.590614	0.28357	.	.	ENSG00000197993	ENST00000355265	D	0.93953	-3.32	4.77	3.88	0.44766	Peptidase M13, neprilysin, C-terminal (1);	0.258393	0.28104	N	0.016581	D	0.97272	0.9108	H	0.97240	3.965	0.09310	N	1	D	0.76494	0.999	D	0.65323	0.934	D	0.91995	0.5606	10	0.87932	D	0	-11.0515	8.3515	0.32305	0.0:0.8943:0.0:0.1057	.	720	P23276	KELL_HUMAN	C	720	ENSP00000347409:G720C	ENSP00000347409:G720C	G	-	1	0	KEL	142348502	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	0.743000	0.26231	1.230000	0.43646	0.651000	0.88453	GGT	.		0.597	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
KEL	3792	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	142640676	142640676	+	Missense_Mutation	SNP	C	C	A	rs150678405		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142640676C>A	ENST00000355265.2	-	15	2074	c.1600G>T	c.(1600-1602)Gtg>Ttg	p.V534L	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	534					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CAAGGGGACACCTTCCACCTG	0.547																																					p.V534L		.											.	KEL-93	0			c.G1600T						.						118.0	97.0	104.0					7																	142640676		2203	4300	6503	SO:0001583	missense	3792	exon15			GGGACACCTTCCA	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1600G>T	7.37:g.142640676C>A	ENSP00000347409:p.Val534Leu	125	1		184	53	NM_000420	0	0	0	0	0	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451937	0.26074	.	.	ENSG00000197993	ENST00000355265	D	0.81659	-1.52	4.88	3.06	0.35304	Peptidase M13, neprilysin, C-terminal (1);	0.376195	0.22519	N	0.058983	T	0.70649	0.3248	L	0.59436	1.845	0.22226	N	0.99928	P	0.35077	0.483	B	0.27887	0.084	T	0.59558	-0.7432	10	0.35671	T	0.21	-28.6774	6.8534	0.24028	0.0:0.7867:0.0:0.2133	.	534	P23276	KELL_HUMAN	L	534	ENSP00000347409:V534L	ENSP00000347409:V534L	V	-	1	0	KEL	142350798	0.002000	0.14202	0.645000	0.29479	0.344000	0.29017	1.067000	0.30616	0.631000	0.30412	-0.150000	0.13652	GTG	C|1.000;T|0.000		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
OR9A2	135924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	142723927	142723927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142723927G>T	ENST00000350513.2	-	1	355	c.293C>A	c.(292-294)tCg>tAg	p.S98*		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	98						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(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AAAGTTGAGCGATACATGTAG	0.473																																					p.S98X		.											.	OR9A2-69	0			c.C293A						.						94.0	84.0	87.0					7																	142723927		2203	4300	6503	SO:0001587	stop_gained	135924	exon1			TTGAGCGATACAT		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.293C>A	7.37:g.142723927G>T	ENSP00000316518:p.Ser98*	250	0		392	95	NM_001001658	0	0	0	0	0	B9EH51|Q6IF71|Q8NGD9	Nonsense_Mutation	SNP	ENST00000350513.2	37	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	A	9.112	1.006789	0.19199	.	.	ENSG00000179468	ENST00000350513	.	.	.	4.62	-4.08	0.03963	.	2.274550	0.02745	U	0.116764	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-11.4963	6.5302	0.22322	0.4806:0.2223:0.2971:0.0	.	.	.	.	X	98	.	ENSP00000316518:S98X	S	-	2	0	OR9A2	142434049	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.491000	0.00225	-1.243000	0.02519	-0.361000	0.07541	TCG	.		0.473	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1		
OR6V1	346517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	142749491	142749491	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142749491T>C	ENST00000418316.1	+	1	75	c.54T>C	c.(52-54)ttT>ttC	p.F18F		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCTCCTCCTTTGGTGAGCTGC	0.512																																					p.F18F		.											.	OR6V1-23	0			c.T54C						.						172.0	166.0	168.0					7																	142749491		1937	4125	6062	SO:0001819	synonymous_variant	346517	exon1			CTCCTTTGGTGAG		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.54T>C	7.37:g.142749491T>C		135	0		173	21	NM_001001667	0	0	0	0	0	A4D2I0|B9EH48|Q6IF70	Silent	SNP	ENST00000418316.1	37	CCDS47728.1																																																																																			.		0.512	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1		
OR6V1	346517	broad.mit.edu	37	7	142750347	142750347	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142750347C>A	ENST00000418316.1	+	1	931	c.910C>A	c.(910-912)Cag>Aag	p.Q304K		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GGGGCAGATGCAGAGGCTGAA	0.552																																					p.Q304K		.											.	OR6V1-23	0			c.C910A						.						36.0	37.0	37.0					7																	142750347		1932	4125	6057	SO:0001583	missense	346517	exon1			CAGATGCAGAGGC		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.910C>A	7.37:g.142750347C>A	ENSP00000396085:p.Gln304Lys	15	0		48	9	NM_001001667	0	0	0	0	0	A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.393307	0.01185	.	.	ENSG00000225781	ENST00000418316	T	0.35421	1.31	4.16	2.23	0.28157	.	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.33497	-0.9866	9	0.02654	T	1	.	6.0734	0.19901	0.1838:0.7074:0.0:0.1088	.	304	Q8N148	OR6V1_HUMAN	K	304	ENSP00000396085:Q304K	ENSP00000396085:Q304K	Q	+	1	0	OR6V1	142460469	0.000000	0.05858	0.783000	0.31826	0.865000	0.49528	0.672000	0.25187	0.366000	0.24427	0.655000	0.94253	CAG	.		0.552	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1		
PIP	5304	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	142836633	142836633	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:142836633C>A	ENST00000291009.3	+	4	379	c.339C>A	c.(337-339)gtC>gtA	p.V113V		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	113					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TTGCAGCCGTCGTTGATGTTA	0.448																																					p.V113V		.											.	PIP-91	0			c.C339A						.						155.0	146.0	149.0					7																	142836633		2203	4299	6502	SO:0001819	synonymous_variant	5304	exon4			AGCCGTCGTTGAT		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.339C>A	7.37:g.142836633C>A		108	0		162	36	NM_002652	0	0	0	0	0	A0A963|A0A9C3|A0A9F3|A4D2I1	Silent	SNP	ENST00000291009.3	37	CCDS34768.1																																																																																			.		0.448	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652	
FAM115C	285966	broad.mit.edu	37	7	143421822	143421822	+	Intron	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:143421822G>T	ENST00000441159.2	+	7	2571				FAM115C_ENST00000411935.1_Intron|FAM115C_ENST00000425618.2_Nonstop_Mutation_p.*565L|FAM115C_ENST00000357344.4_Nonstop_Mutation_p.*846L|FAM115C_ENST00000409703.3_Intron|FAM115C_ENST00000444908.2_Nonstop_Mutation_p.*846L|FAM115C_ENST00000411497.2_Nonstop_Mutation_p.*565L			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C						hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						AGAAGGGGATGACCAGACCCC	0.582																																					p.X846L		.											.	FAM115C-68	0			c.G2537T						.						25.0	22.0	23.0					7																	143421822		1870	3440	5310	SO:0001627	intron_variant	285966	exon7			GGGGATGACCAGA	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.2505+32G>T	7.37:g.143421822G>T		128	0		163	29	NM_173678	0	0	0	0	0	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	ENST00000441159.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.213|6.213	0.407419|0.407419	0.11754|0.11754	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000518791|ENST00000444908;ENST00000411497;ENST00000357344;ENST00000425618	.|.	.|.	.|.	3.03|3.03	-2.75|-2.75	0.05914|0.05914	.|.	.|.	.|.	.|.	.|.	T|.	0.18045|.	0.0433|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23797|.	-1.0178|.	4|.	.|.	.|.	.|.	.|.	1.1429|1.1429	0.01769|0.01769	0.158:0.2713:0.3434:0.2272|0.158:0.2713:0.3434:0.2272	.|.	.|.	.|.	.|.	I|L	660|846;565;846;565	.|.	.|.	M|X	+|+	3|2	0|2	FAM115C|FAM115C	143052755|143052755	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.619000|-0.619000	0.05572|0.05572	-0.700000|-0.700000	0.05070|0.05070	-0.718000|-0.718000	0.03613|0.03613	ATG|TGA	.		0.582	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678	
OR2F1	26211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	143657461	143657461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:143657461C>A	ENST00000392899.1	+	1	435	c.398C>A	c.(397-399)tCg>tAg	p.S133*	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	133					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CTGCGATACTCGGCCATCATG	0.547																																					p.S133X		.											.	OR2F1-71	0			c.C398A						.						172.0	146.0	155.0					7																	143657461		2203	4300	6503	SO:0001587	stop_gained	26211	exon1			GATACTCGGCCAT	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.398C>A	7.37:g.143657461C>A	ENSP00000376633:p.Ser133*	273	0		429	226	NM_012369	0	0	0	0	0	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Nonsense_Mutation	SNP	ENST00000392899.1	37	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008498	0.35415	.	.	ENSG00000213215	ENST00000392899	.	.	.	5.53	2.82	0.32997	.	0.000000	0.44483	D	0.000448	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8309	7.0941	0.25299	0.0:0.6612:0.0:0.3388	.	.	.	.	X	133	.	ENSP00000376633:S133X	S	+	2	0	OR2F1	143288394	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.017000	0.13399	0.466000	0.27193	-0.136000	0.14681	TCG	.		0.547	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1		
OR2F1	26211	ucsc.edu;bcgsc.ca	37	7	143657503	143657503	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:143657503C>A	ENST00000392899.1	+	1	477	c.440C>A	c.(439-441)aCa>aAa	p.T147K	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	147					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTGGCCATCACATCCTGGGTC	0.532																																					p.T147K		.											.	OR2F1-71	0			c.C440A						.						143.0	120.0	128.0					7																	143657503		2203	4300	6503	SO:0001583	missense	26211	exon1			CCATCACATCCTG	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.440C>A	7.37:g.143657503C>A	ENSP00000376633:p.Thr147Lys	335	2		508	131	NM_012369	0	0	0	0	0	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	6.339	0.430621	0.12045	.	.	ENSG00000213215	ENST00000392899	T	0.37752	1.18	5.53	-1.64	0.08318	GPCR, rhodopsin-like superfamily (1);	0.365728	0.23674	N	0.045693	T	0.30916	0.0780	L	0.49350	1.555	0.09310	N	1	B	0.23316	0.083	B	0.37198	0.243	T	0.35574	-0.9783	10	0.29301	T	0.29	-0.786	6.3657	0.21453	0.0:0.402:0.3351:0.2629	.	147	Q13607	OR2F1_HUMAN	K	147	ENSP00000376633:T147K	ENSP00000376633:T147K	T	+	2	0	OR2F1	143288436	0.000000	0.05858	0.000000	0.03702	0.373000	0.29922	-0.228000	0.09114	-0.546000	0.06216	-0.794000	0.03295	ACA	.		0.532	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1		
OR2A14	135941	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	143826651	143826651	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:143826651T>A	ENST00000408899.2	+	1	501	c.446T>A	c.(445-447)gTg>gAg	p.V149E		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GCTTCCTGGGTGTTCAGCTTC	0.532																																					p.V149E		.											.	OR2A14-90	0			c.T446A						.						180.0	198.0	192.0					7																	143826651		2155	4262	6417	SO:0001583	missense	135941	exon1			CCTGGGTGTTCAG		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.446T>A	7.37:g.143826651T>A	ENSP00000386137:p.Val149Glu	150	0		232	64	NM_001001659	0	0	0	0	0	Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	T	6.252	0.414613	0.11870	.	.	ENSG00000221938	ENST00000408899	T	0.41758	0.99	4.18	-6.03	0.02185	GPCR, rhodopsin-like superfamily (1);	1.235930	0.06422	U	0.722464	T	0.51941	0.1704	M	0.79614	2.46	0.09310	N	1	B	0.33777	0.425	B	0.42593	0.392	T	0.62478	-0.6846	10	0.72032	D	0.01	1.1228	15.3653	0.74516	0.0:0.745:0.0:0.255	.	149	Q96R47	O2A14_HUMAN	E	149	ENSP00000386137:V149E	ENSP00000386137:V149E	V	+	2	0	OR2A14	143457584	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.471000	0.00990	-1.202000	0.02655	-0.441000	0.05720	GTG	.		0.532	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1		
NOBOX	135935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	144098647	144098647	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:144098647C>T	ENST00000467773.1	-	4	335	c.336G>A	c.(334-336)gaG>gaA	p.E112E	NOBOX_ENST00000483238.1_Silent_p.E112E|NOBOX_ENST00000223140.5_Silent_p.E27E	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	112					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCAGTTCCTCCTCCCCGGGTC	0.617																																					p.E112E		.											.	NOBOX-69	0			c.G336A						.						31.0	33.0	32.0					7																	144098647		1670	3627	5297	SO:0001819	synonymous_variant	135935	exon4			TTCCTCCTCCCCG			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.336G>A	7.37:g.144098647C>T		20	0		32	8	NM_001080413	0	0	0	0	0	A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37																																																																																				.		0.617	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420	
CNTNAP2	26047	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	145813997	145813997	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:145813997G>C	ENST00000361727.3	+	1	545	c.29G>C	c.(28-30)gGg>gCg	p.G10A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	10					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCCGGCTGCGGGGCAGCGCTC	0.687										HNSCC(39;0.1)																											p.G10A		.											.	CNTNAP2-100	0			c.G29C						.						7.0	5.0	5.0					7																	145813997		1974	3855	5829	SO:0001583	missense	26047	exon1			GCTGCGGGGCAGC	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.29G>C	7.37:g.145813997G>C	ENSP00000354778:p.Gly10Ala	27	0		71	26	NM_014141	0	0	0	0	0	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	5.298	0.240321	0.10023	.	.	ENSG00000174469	ENST00000361727	D	0.87571	-2.27	4.31	3.43	0.39272	.	0.463445	0.16247	U	0.222887	T	0.71728	0.3374	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.60571	-0.7237	10	0.21540	T	0.41	.	8.3382	0.32228	0.1119:0.0:0.8881:0.0	.	10	Q9UHC6	CNTP2_HUMAN	A	10	ENSP00000354778:G10A	ENSP00000354778:G10A	G	+	2	0	CNTNAP2	145444930	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	2.537000	0.45702	0.778000	0.33520	0.655000	0.94253	GGG	.		0.687	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
CNTNAP2	26047	bcgsc.ca	37	7	147844680	147844680	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:147844680G>T	ENST00000361727.3	+	17	3168	c.2652G>T	c.(2650-2652)cgG>cgT	p.R884R	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	884	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGTGGCACCGGGTCACTGCAG	0.582										HNSCC(39;0.1)																											p.R884R		.											.	CNTNAP2-100	0			c.G2652T						.						120.0	111.0	114.0					7																	147844680		2203	4300	6503	SO:0001819	synonymous_variant	26047	exon17			GCACCGGGTCACT	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2652G>T	7.37:g.147844680G>T		136	3		196	66	NM_014141	0	0	0	0	0	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																			.		0.582	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
ZNF467	168544	hgsc.bcm.edu	37	7	149463036	149463036	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:149463036C>T	ENST00000302017.3	-	5	968	c.555G>A	c.(553-555)gaG>gaA	p.E185E	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCAGGGGCCCTCGCCCCGGT	0.731																																					p.E185E		.											.	ZNF467-90	0			c.G555A						.						4.0	5.0	5.0					7																	149463036		1912	3715	5627	SO:0001819	synonymous_variant	168544	exon5			GGGGCCCTCGCCC	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.555G>A	7.37:g.149463036C>T		2	0		20	10	NM_207336	0	0	0	0	0		Silent	SNP	ENST00000302017.3	37	CCDS5899.1																																																																																			.		0.731	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336	
ZNF467	168544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	149466284	149466284	+	Nonsense_Mutation	SNP	C	C	A	rs558365906		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:149466284C>A	ENST00000302017.3	-	4	570	c.157G>T	c.(157-159)Gag>Tag	p.E53*	ZNF467_ENST00000484747.1_Nonsense_Mutation_p.E53*	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTAGGGGCCTCGTGCCCTGGC	0.607																																					p.E53X		.											.	ZNF467-90	0			c.G157T						.						40.0	31.0	34.0					7																	149466284		2191	4267	6458	SO:0001587	stop_gained	168544	exon4			GGGCCTCGTGCCC	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.157G>T	7.37:g.149466284C>A	ENSP00000304769:p.Glu53*	71	0		101	36	NM_207336	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000302017.3	37	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162998	0.78226	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	.	.	.	3.92	-0.428	0.12306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-7.1251	5.3352	0.15953	0.0:0.522:0.1623:0.3158	.	.	.	.	X	53	.	ENSP00000304769:E53X	E	-	1	0	ZNF467	149097217	0.000000	0.05858	0.005000	0.12908	0.081000	0.17604	-0.800000	0.04555	-0.211000	0.10124	-1.644000	0.00765	GAG	.		0.607	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336	
SSPO	23145	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	149486861	149486861	+	RNA	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:149486861C>A	ENST00000378016.2	+	0	4635							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)			CTGGCCCCTCCCCAGGCTCCC	0.677																																					p.S1545S		.											.	.	0			c.C4635A						.						21.0	26.0	24.0					7																	149486861		1933	4108	6041			23145	exon31			CCCCTCCCCAGGC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486861C>A		116	1		148	47	NM_198455	0	0	0	0	0	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				.		0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
SSPO	23145	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	149518741	149518741	+	RNA	SNP	C	C	A	rs367566792		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:149518741C>A	ENST00000378016.2	+	0	12735							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)			GTGTGATCTGCGAAGATACGG	0.637																																					p.C4245X		.											.	.	0			c.C12735A						.						19.0	26.0	24.0					7																	149518741		2082	4174	6256			23145	exon89			GATCTGCGAAGAT	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518741C>A		133	3		155	49	NM_198455	0	0	0	0	0	Q76B61	Nonsense_Mutation	SNP	ENST00000378016.2	37																																																																																				.		0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
SLC4A2	6522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	150771826	150771826	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:150771826C>T	ENST00000485713.1	+	19	3985	c.2945C>T	c.(2944-2946)cCc>cTc	p.P982L	SLC4A2_ENST00000413384.2_Missense_Mutation_p.P982L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.P900L|SLC4A2_ENST00000392826.2_Missense_Mutation_p.P973L|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000461735.1_Missense_Mutation_p.P968L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	982	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCATCAACCCCCTGGGAGAG	0.572																																					p.P982L		.											.	SLC4A2-90	0			c.C2945T						.						82.0	85.0	84.0					7																	150771826		2203	4300	6503	SO:0001583	missense	6522	exon19			TCAACCCCCTGGG		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2945C>T	7.37:g.150771826C>T	ENSP00000419412:p.Pro982Leu	131	0		148	51	NM_003040	0	0	0	0	0	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443996	0.83993	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.29	5.29	0.74685	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91054	0.7185	M	0.86268	2.805	0.80722	D	1	P;P;P	0.50819	0.521;0.925;0.939	P;P;P	0.59546	0.479;0.779;0.859	D	0.92119	0.5702	10	0.87932	D	0	.	17.683	0.88249	0.0:1.0:0.0:0.0	.	973;968;982	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	L	982;982;900;973;968	ENSP00000419412:P982L;ENSP00000405600:P982L;ENSP00000311402:P900L;ENSP00000376571:P973L;ENSP00000419164:P968L	ENSP00000311402:P900L	P	+	2	0	SLC4A2	150402759	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	7.651000	0.83577	2.756000	0.94617	0.561000	0.74099	CCC	.		0.572	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	
PRKAG2	51422	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	151478357	151478357	+	Missense_Mutation	SNP	C	C	G	rs369471907		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:151478357C>G	ENST00000287878.4	-	3	851	c.347G>C	c.(346-348)cGc>cCc	p.R116P	PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Missense_Mutation_p.R72P	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	116					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.R116H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TCGAGGGGAGCGTGGCGGGGA	0.647																																					p.R116P		.											.	PRKAG2-658	1	Substitution - Missense(1)	large_intestine(1)	c.G347C						.						68.0	69.0	69.0					7																	151478357		2203	4300	6503	SO:0001583	missense	51422	exon3			GGGGAGCGTGGCG	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.347G>C	7.37:g.151478357C>G	ENSP00000287878:p.Arg116Pro	55	0		63	22	NM_016203	0	0	0	0	0	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276150	0.59649	.	.	ENSG00000106617	ENST00000287878;ENST00000392801	D;D	0.89270	-2.09;-2.49	5.1	5.1	0.69264	.	0.068626	0.53938	D	0.000044	D	0.91267	0.7247	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.87578	0.998;0.737	D	0.92476	0.5989	10	0.66056	D	0.02	.	17.5175	0.87778	0.0:1.0:0.0:0.0	.	116;116	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	P	116;72	ENSP00000287878:R116P;ENSP00000376549:R72P	ENSP00000287878:R116P	R	-	2	0	PRKAG2	151109290	1.000000	0.71417	0.810000	0.32431	0.343000	0.28985	3.298000	0.51818	2.363000	0.80096	0.563000	0.77884	CGC	.		0.647	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203	
KMT2C	58508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	151947965	151947965	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:151947965C>A	ENST00000262189.6	-	12	1926	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E570*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	570					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGAGTGGACTCCTGACCGTTG	0.333																																					p.E570X		.											.	MLL3-1398	0			c.G1708T						.						113.0	113.0	113.0					7																	151947965		2203	4300	6503	SO:0001587	stop_gained	58508	exon12			TGGACTCCTGACC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1708G>T	7.37:g.151947965C>A	ENSP00000262189:p.Glu570*	50	0		57	26	NM_170606	0	0	0	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	41	8.770231	0.98948	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	6.08	4.25	0.50352	.	0.504362	0.16137	N	0.227920	.	.	.	.	.	.	0.33688	D	0.612989	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	15.3727	0.74581	0.0:0.7277:0.2723:0.0	.	.	.	.	X	570	.	ENSP00000262189:E570X	E	-	1	0	MLL3	151578898	0.845000	0.29573	0.004000	0.12327	0.795000	0.44927	2.347000	0.44036	0.872000	0.35775	0.655000	0.94253	GAG	.		0.333	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
DPP6	1804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	153584820	153584820	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:153584820G>T	ENST00000404039.1	+	1	638		c.e1+1			NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAACGTGATGGTGAGTGCCAC	0.597																																					.	NSCLC(125;1384 1783 2490 7422 34254)	.											.	DPP6-652	0			c.51+1G>T						.						54.0	52.0	53.0					7																	153584820		1568	3582	5150	SO:0001630	splice_region_variant	1804	exon1			GTGATGGTGAGTG	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000404039.1:c.51+1G>T	7.37:g.153584820G>T		111	0		144	19	NM_001039350	0	0	0	0	0		Splice_Site	SNP	ENST00000404039.1	37		.	.	.	.	.	.	.	.	.	.	G	17.80	3.478031	0.63849	.	.	ENSG00000130226	ENST00000404039	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6642	0.62384	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP6	153215753	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.727000	0.61993	2.278000	0.76064	0.557000	0.71058	.	.		0.597	DPP6-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000322930.1	NM_130797	Intron
DPP6	1804	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	7	153749961	153749961	+	Missense_Mutation	SNP	C	C	A	rs564612979		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:153749961C>A	ENST00000377770.3	+	1	197	c.56C>A	c.(55-57)cCc>cAc	p.P19H	DPP6_ENST00000406326.1_Missense_Mutation_p.P19H|AC006019.3_ENST00000425591.1_RNA|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	19					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGTCCTTCCCCGCGCCCCCG	0.697																																					p.P19H	NSCLC(125;1384 1783 2490 7422 34254)	.											.	DPP6-652	0			c.C56A						.						13.0	18.0	17.0					7																	153749961		692	1588	2280	SO:0001583	missense	1804	exon1			CCTTCCCCGCGCC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.56C>A	7.37:g.153749961C>A	ENSP00000367001:p.Pro19His	16	0		23	11	NM_130797	0	0	0	0	0		Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	C	14.69	2.609232	0.46527	.	.	ENSG00000130226	ENST00000406326;ENST00000377770	T	0.21543	2.0	3.31	2.42	0.29668	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.79108	0.75;0.992	T	0.34453	-0.9828	8	0.87932	D	0	-6.0694	9.7779	0.40630	0.0:0.8941:0.0:0.1059	.	19;19	P42658;Q8IYG9	DPP6_HUMAN;.	H	19	ENSP00000367001:P19H	ENSP00000367001:P19H	P	+	2	0	DPP6	153380894	1.000000	0.71417	0.995000	0.50966	0.152000	0.21847	4.316000	0.59178	0.503000	0.28060	-0.274000	0.10170	CCC	.		0.697	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
DPP6	1804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	154561206	154561206	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:154561206C>T	ENST00000377770.3	+	9	1104	c.963C>T	c.(961-963)tcC>tcT	p.S321S	DPP6_ENST00000427557.1_Silent_p.S214S|DPP6_ENST00000332007.3_Silent_p.S259S|DPP6_ENST00000404039.1_Silent_p.S257S			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	321					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCAATGATTCCCGTGTCCCCA	0.557																																					p.S321S	NSCLC(125;1384 1783 2490 7422 34254)	.											.	DPP6-652	0			c.C963T						.						67.0	69.0	68.0					7																	154561206		2009	4163	6172	SO:0001819	synonymous_variant	1804	exon9			TGATTCCCGTGTC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.963C>T	7.37:g.154561206C>T		91	0		170	66	NM_130797	0	0	0	0	0		Silent	SNP	ENST00000377770.3	37																																																																																				.		0.557	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
DPP6	1804	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	154598776	154598776	+	Missense_Mutation	SNP	C	C	A	rs369843983		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:154598776C>A	ENST00000377770.3	+	16	1761	c.1620C>A	c.(1618-1620)agC>agA	p.S540R	DPP6_ENST00000427557.1_Missense_Mutation_p.S433R|DPP6_ENST00000332007.3_Missense_Mutation_p.S478R|DPP6_ENST00000404039.1_Missense_Mutation_p.S476R			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	540					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCTACTTCAGCGCTTCCTTCA	0.572																																					p.S540R	NSCLC(125;1384 1783 2490 7422 34254)	.											.	DPP6-652	0			c.C1620A						.						141.0	144.0	143.0					7																	154598776		2117	4230	6347	SO:0001583	missense	1804	exon16			CTTCAGCGCTTCC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1620C>A	7.37:g.154598776C>A	ENSP00000367001:p.Ser540Arg	76	1		95	29	NM_130797	0	0	0	0	0		Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	C	15.74	2.921567	0.52653	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.8	-7.92	0.01160	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.078370	0.85682	D	0.000000	T	0.46639	0.1403	L	0.51422	1.61	0.49582	D	0.999807	P;D;D;D	0.89917	0.769;1.0;1.0;1.0	P;D;D;D	0.83275	0.565;0.994;0.996;0.996	T	0.66244	-0.5972	10	0.72032	D	0.01	-21.439	15.6105	0.76713	0.0:0.2237:0.0:0.7763	.	433;478;540;476	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	R	476;540;478;433	ENSP00000385578:S476R;ENSP00000367001:S540R;ENSP00000328226:S478R;ENSP00000397303:S433R	ENSP00000328226:S478R	S	+	3	2	DPP6	154229709	0.524000	0.26282	0.121000	0.21740	0.858000	0.48976	-0.356000	0.07661	-2.150000	0.00796	-1.619000	0.00793	AGC	.		0.572	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
NOM1	64434	hgsc.bcm.edu	37	7	156742501	156742501	+	Missense_Mutation	SNP	C	C	G	rs6969990	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:156742501C>G	ENST00000275820.3	+	1	85	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	24	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		R -> G (in dbSNP:rs6969990).			nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCGCATGAAGCGCAGAggcgg	0.721													.|||	1013	0.202276	0.2042	0.2392	5008	,	,		7202	0.2778		0.1511	False		,,,				2504	0.1483				p.R24G		.											.	NOM1-90	0			c.C70G						.	C	GLY/ARG	460,2914		22,416,1249	3.0	4.0	3.0		70	4.4	0.0	7	dbSNP_116	3	715,6171		26,663,2754	no	missense	NOM1	NM_138400.1	125	48,1079,4003	GG,GC,CC		10.3834,13.6337,11.4522	probably-damaging	24/861	156742501	1175,9085	1687	3443	5130	SO:0001583	missense	64434	exon1			ATGAAGCGCAGAG	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.70C>G	7.37:g.156742501C>G	ENSP00000275820:p.Arg24Gly	0	0		21	12	NM_138400	0	0	0	0	0	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	459	0.21016483516483517	100	0.2032520325203252	69	0.19060773480662985	164	0.2867132867132867	126	0.1662269129287599	C	17.33	3.362797	0.61403	0.136337	0.103834	ENSG00000146909	ENST00000275820	T	0.13307	2.6	4.36	4.36	0.52297	.	1.850510	0.03172	N	0.170899	T	0.00012	0.0000	L	0.27053	0.805	0.58432	P	9.99999999995449E-6	D	0.64830	0.994	P	0.54924	0.764	T	0.39603	-0.9606	9	0.87932	D	0	-1.3828	15.9395	0.79743	0.0:1.0:0.0:0.0	rs6969990;rs6969990	24	Q5C9Z4	NOM1_HUMAN	G	24	ENSP00000275820:R24G	ENSP00000275820:R24G	R	+	1	0	NOM1	156435262	0.939000	0.31865	0.023000	0.16930	0.179000	0.23085	3.589000	0.53972	1.979000	0.57680	0.306000	0.20318	CGC	C|0.663;G|0.337		0.721	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
NOM1	64434	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	156743069	156743069	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:156743069G>T	ENST00000275820.3	+	1	653	c.638G>T	c.(637-639)cGc>cTc	p.R213L		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	213	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGCTTTGCACGCGACGGTCTT	0.572																																					p.R213L		.											.	NOM1-90	0			c.G638T						.						96.0	106.0	102.0					7																	156743069		2203	4300	6503	SO:0001583	missense	64434	exon1			TTGCACGCGACGG	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.638G>T	7.37:g.156743069G>T	ENSP00000275820:p.Arg213Leu	141	1		157	66	NM_138400	0	0	0	0	0	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336028	0.60853	.	.	ENSG00000146909	ENST00000275820	T	0.12039	2.72	4.19	4.19	0.49359	.	0.473208	0.22481	N	0.059489	T	0.09818	0.0241	L	0.38838	1.175	0.33119	D	0.541505	B	0.23058	0.079	B	0.19946	0.027	T	0.09037	-1.0693	10	0.25106	T	0.35	-20.2035	6.6772	0.23100	0.0904:0.0:0.731:0.1785	.	213	Q5C9Z4	NOM1_HUMAN	L	213	ENSP00000275820:R213L	ENSP00000275820:R213L	R	+	2	0	NOM1	156435830	0.990000	0.36364	0.929000	0.37066	0.694000	0.40290	1.484000	0.35508	2.154000	0.67381	0.650000	0.86243	CGC	.		0.572	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
DLGAP2	9228	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	1497807	1497807	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:1497807C>A	ENST00000421627.2	+	2	1082	c.948C>A	c.(946-948)caC>caA	p.H316Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	395					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGCTGCTGCACCAGGACGCCA	0.647																																					p.H316Q		.											.	DLGAP2-22	0			c.C948A						.						6.0	7.0	6.0					8																	1497807		2011	4083	6094	SO:0001583	missense	9228	exon2			GCTGCACCAGGAC	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.948C>A	8.37:g.1497807C>A	ENSP00000400258:p.His316Gln	89	2		154	90	NM_004745	0	0	0	0	0	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.919|6.919	0.539185|0.539185	0.13250|0.13250	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.13089|.	2.62|.	5.3|5.3	3.3|3.3	0.37823|0.37823	.|.	0.351640|.	0.35970|.	N|.	0.002865|.	T|T	0.48484|0.48484	0.1502|0.1502	M|M	0.63428|0.63428	1.95|1.95	0.32782|0.32782	N|N	0.502428|0.502428	B;B|.	0.31383|.	0.321;0.215|.	B;B|.	0.32465|.	0.146;0.07|.	T|T	0.56257|0.56257	-0.8009|-0.8009	10|5	0.39692|.	T|.	0.17|.	-19.5993|-19.5993	5.0596|5.0596	0.14550|0.14550	0.0:0.3088:0.0:0.6912|0.0:0.3088:0.0:0.6912	.|.	395;395|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	Q|N	361;316|333	ENSP00000400258:H316Q|.	ENSP00000348366:H361Q|.	H|T	+|+	3|2	2|0	DLGAP2|DLGAP2	1485214|1485214	1.000000|1.000000	0.71417|0.71417	0.017000|0.017000	0.16124|0.16124	0.154000|0.154000	0.21943|0.21943	2.210000|2.210000	0.42816|0.42816	0.507000|0.507000	0.28148|0.28148	0.655000|0.655000	0.94253|0.94253	CAC|ACC	.		0.647	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
DLGAP2	9228	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	1626470	1626470	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:1626470G>T	ENST00000421627.2	+	9	2273	c.2139G>T	c.(2137-2139)gaG>gaT	p.E713D	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	792					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCACCACGGAGGACAAAGGCC	0.617																																					p.E713D		.											.	DLGAP2-22	0			c.G2139T						.						58.0	66.0	63.0					8																	1626470		2127	4217	6344	SO:0001583	missense	9228	exon9			CACGGAGGACAAA	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2139G>T	8.37:g.1626470G>T	ENSP00000400258:p.Glu713Asp	161	1		192	31	NM_004745	0	0	0	0	0	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.937889|3.937889	0.73557|0.73557	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.20598|.	2.06|.	5.19|5.19	4.31|4.31	0.51392|0.51392	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70527|0.70527	0.3234|0.3234	M|M	0.65975|0.65975	2.015|2.015	0.41340|0.41340	D|D	0.987292|0.987292	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.74348|.	0.982;0.983|.	T|T	0.70490|0.70490	-0.4857|-0.4857	10|5	0.45353|.	T|.	0.12|.	-13.5978|-13.5978	13.1281|13.1281	0.59366|0.59366	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	778;792|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	D|M	744;713|716	ENSP00000400258:E713D|.	ENSP00000348366:E744D|.	E|R	+|+	3|2	2|0	DLGAP2|DLGAP2	1613877|1613877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	1.910000|1.910000	0.39927|0.39927	2.406000|2.406000	0.81754|0.81754	0.557000|0.557000	0.71058|0.71058	GAG|AGG	.		0.617	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
MYOM2	9172	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	2054093	2054093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:2054093C>A	ENST00000262113.4	+	22	2937	c.2796C>A	c.(2794-2796)tgC>tgA	p.C932*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.C357*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	932	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCTTCGACTGCCAGGAAATGA	0.488																																					p.C932X		.											.	MYOM2-95	0			c.C2796A						.						149.0	138.0	141.0					8																	2054093		2203	4300	6503	SO:0001587	stop_gained	9172	exon22			CGACTGCCAGGAA		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2796C>A	8.37:g.2054093C>A	ENSP00000262113:p.Cys932*	237	1		167	38	NM_003970	0	0	0	0	0	Q7Z3Y2	Nonsense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577153	0.65878	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	.	.	.	5.44	2.24	0.28232	.	0.100076	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2683	0.49122	0.0:0.7601:0.0:0.2399	.	.	.	.	X	932;357	.	ENSP00000262113:C932X	C	+	3	2	MYOM2	2041500	0.980000	0.34600	0.953000	0.39169	0.094000	0.18550	1.561000	0.36342	0.665000	0.31066	0.655000	0.94253	TGC	.		0.488	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
MYOM2	9172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	2090321	2090321	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:2090321G>T	ENST00000262113.4	+	35	4164	c.4023G>T	c.(4021-4023)aaG>aaT	p.K1341N	MYOM2_ENST00000520298.1_Intron|MYOM2_ENST00000523438.1_Splice_Site_p.K766N	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1341					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTGCAGAGAAGAGTAAGTACC	0.393																																					p.K1341N		.											.	MYOM2-95	0			c.G4023T						.						199.0	184.0	189.0					8																	2090321		2203	4300	6503	SO:0001630	splice_region_variant	9172	exon35			AGAGAAGAGTAAG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4024+1G>T	8.37:g.2090321G>T		136	0		117	31	NM_003970	0	0	0	0	0	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498325	0.64186	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.54866	0.55;0.69	4.91	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.77313	2.365	0.41206	D	0.986407	D	0.89917	1.0	D	0.85130	0.997	T	0.72312	-0.4331	10	0.87932	D	0	.	10.0012	0.41929	0.2341:0.0:0.7659:0.0	.	1341	P54296	MYOM2_HUMAN	N	1341;766	ENSP00000262113:K1341N;ENSP00000428396:K766N	ENSP00000262113:K1341N	K	+	3	2	MYOM2	2077728	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.132000	0.42083	0.996000	0.38943	0.650000	0.86243	AAG	.		0.393	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	Missense_Mutation
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	2800005	2800005	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:2800005G>T	ENST00000520002.1	-	70	11082	c.10527C>A	c.(10525-10527)ctC>ctA	p.L3509L	CSMD1_ENST00000537824.1_Silent_p.L3508L|CSMD1_ENST00000602557.1_Silent_p.L3509L|CSMD1_ENST00000542608.1_Silent_p.L3331L|CSMD1_ENST00000602723.1_Silent_p.L3332L|CSMD1_ENST00000400186.3_Silent_p.L3332L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3509						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTGTTTGTAGAGGTAAAATG	0.453																																					p.L3508L		.											.	CSMD1-86	0			c.C10524A						.						52.0	51.0	51.0					8																	2800005		1882	4108	5990	SO:0001819	synonymous_variant	64478	exon69			TTTGTAGAGGTAA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10527C>A	8.37:g.2800005G>T		69	0		32	8	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	8.965	0.971561	0.18736	.	.	ENSG00000183117	ENST00000335551	T	0.34472	1.36	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	T	0.54464	0.1860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56396	-0.7986	7	0.72032	D	0.01	.	14.581	0.68292	0.0:0.0:0.8539:0.1461	.	.	.	.	I	2911	ENSP00000334828:L2911I	ENSP00000334828:L2911I	L	-	1	2	CSMD1	2787412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.410000	0.66381	2.661000	0.90470	0.643000	0.83706	CTA	.		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	2855623	2855623	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:2855623T>A	ENST00000520002.1	-	55	8845	c.8290A>T	c.(8290-8292)Acc>Tcc	p.T2764S	CSMD1_ENST00000537824.1_Missense_Mutation_p.T2763S|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2764S|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2705S|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2706S|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2706S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2764	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGTTGCAGGTGAAATTCACG	0.562																																					p.T2763S		.											.	CSMD1-86	0			c.A8287T						.						129.0	126.0	127.0					8																	2855623		2038	4194	6232	SO:0001583	missense	64478	exon54			TGCAGGTGAAATT			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8290A>T	8.37:g.2855623T>A	ENSP00000430733:p.Thr2764Ser	219	2		165	44	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.047|8.047	0.765073|0.765073	0.15914|0.15914	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.63744	.|-0.06;-0.06;-0.06;-0.06	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52273|0.52273	0.1724|0.1724	N|N	0.02142|0.02142	-0.665|-0.665	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.76494	.|0.992;0.06;0.999	.|D;B;D	.|0.81914	.|0.987;0.065;0.995	T|T	0.55958|0.55958	-0.8058|-0.8058	5|10	.|0.02654	.|T	.|1	.|.	16.6288|16.6288	0.85011|0.85011	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2764;2764;2705	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	L|S	2180|2706;2764;2625;2763;2705	.|ENSP00000383047:T2706S;ENSP00000430733:T2764S;ENSP00000441462:T2763S;ENSP00000446243:T2705S	.|ENSP00000320445:T2625S	H|T	-|-	2|1	0|0	CSMD1|CSMD1	2843030|2843030	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.194000|0.194000	0.23727|0.23727	4.911000|4.911000	0.63328|0.63328	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	CAC|ACC	.		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	2910065	2910065	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:2910065G>T	ENST00000520002.1	-	51	8137	c.7582C>A	c.(7582-7584)Ctt>Att	p.L2528I	CSMD1_ENST00000537824.1_Missense_Mutation_p.L2527I|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2528I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2527I|CSMD1_ENST00000602723.1_Missense_Mutation_p.L2528I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2528I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2528	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGATTCAAGCTTGAAGCCC	0.512																																					p.L2527I		.											.	CSMD1-86	0			c.C7579A						.						59.0	58.0	58.0					8																	2910065		1970	4158	6128	SO:0001583	missense	64478	exon50			ATTCAAGCTTGAA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7582C>A	8.37:g.2910065G>T	ENSP00000430733:p.Leu2528Ile	160	0		117	24	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.993916|3.993916	0.74703|0.74703	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.69926	.|-0.44;-0.44;-0.44;-0.44	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.090704	.|0.46145	.|D	.|0.000312	D|D	0.82783|0.82783	0.5112|0.5112	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.946;0.999;0.991	.|P;D;D	.|0.77557	.|0.719;0.99;0.917	D|D	0.85201|0.85201	0.1015|0.1015	5|10	.|0.72032	.|D	.|0.01	.|.	12.6822|12.6822	0.56928|0.56928	0.076:0.0:0.924:0.0|0.076:0.0:0.924:0.0	.|.	.|2528;2528;2527	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	D|I	1944|2528;2528;2389;2527;2527	.|ENSP00000383047:L2528I;ENSP00000430733:L2528I;ENSP00000441462:L2527I;ENSP00000446243:L2527I	.|ENSP00000320445:L2389I	A|L	-|-	2|1	0|0	CSMD1|CSMD1	2897472|2897472	1.000000|1.000000	0.71417|0.71417	0.098000|0.098000	0.21074|0.21074	0.079000|0.079000	0.17450|0.17450	5.021000|5.021000	0.64072|0.64072	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	GCT|CTT	.		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	3216806	3216806	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:3216806C>G	ENST00000520002.1	-	22	3730	c.3175G>C	c.(3175-3177)Ggt>Cgt	p.G1059R	CSMD1_ENST00000537824.1_Missense_Mutation_p.G1058R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1059R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1058R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1058R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1059R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1059R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1059	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGAAAACCAATTCTTCGG	0.522																																					p.G1058R		.											.	CSMD1-86	0			c.G3172C						.						60.0	66.0	64.0					8																	3216806		2201	4300	6501	SO:0001583	missense	64478	exon21			GAAAACCAATTCT			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3175G>C	8.37:g.3216806C>G	ENSP00000430733:p.Gly1059Arg	129	1		85	11	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	20.2|20.2	3.950947|3.950947	0.73787|0.73787	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.26067|.	1.76;1.76;1.76;1.76;1.76|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83622|0.83622	0.5294|0.5294	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.993|.	D|D	0.85916|0.85916	0.1443|0.1443	10|5	0.87932|.	D|.	0|.	.|.	18.8469|18.8469	0.92210|0.92210	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1059;1059;1059|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	R|S	1059;1059;921;1058;1058;1058|538	ENSP00000383047:G1059R;ENSP00000430733:G1059R;ENSP00000441462:G1058R;ENSP00000446243:G1058R;ENSP00000441675:G1058R|.	ENSP00000320445:G921R|.	G|W	-|-	1|2	0|0	CSMD1|CSMD1	3204213|3204213	1.000000|1.000000	0.71417|0.71417	0.084000|0.084000	0.20598|0.20598	0.536000|0.536000	0.34869|0.34869	7.612000|7.612000	0.82975|0.82975	2.432000|2.432000	0.82394|0.82394	0.550000|0.550000	0.68814|0.68814	GGT|TGG	.		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
AGPAT5	55326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	6599206	6599206	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:6599206G>A	ENST00000285518.6	+	5	832	c.520G>A	c.(520-522)Ggt>Agt	p.G174S	AGPAT5_ENST00000530716.1_3'UTR	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	174					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		TTTTCCAGAAGGTACAAGGTA	0.343																																					p.G174S		.											.	AGPAT5-90	0			c.G520A						.						122.0	126.0	125.0					8																	6599206		2203	4300	6503	SO:0001583	missense	55326	exon5			CCAGAAGGTACAA	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.520G>A	8.37:g.6599206G>A	ENSP00000285518:p.Gly174Ser	76	0		55	21	NM_018361	0	0	0	0	0	Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019270	0.93462	.	.	ENSG00000155189	ENST00000285518	D	0.99850	-7.16	5.53	5.53	0.82687	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96469	0.9347	10	0.87932	D	0	-21.4766	16.9633	0.86278	0.0:0.0:1.0:0.0	.	174	Q9NUQ2	PLCE_HUMAN	S	174	ENSP00000285518:G174S	ENSP00000285518:G174S	G	+	1	0	AGPAT5	6586614	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.393000	0.79851	2.587000	0.87381	0.591000	0.81541	GGT	.		0.343	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361	
TNKS	8658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	9620743	9620743	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:9620743G>T	ENST00000310430.6	+	22	3387	c.3361G>T	c.(3361-3363)Gtg>Ttg	p.V1121L	TNKS_ENST00000518281.1_Missense_Mutation_p.V884L	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1121	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATATCAGTCAGTGGAAGAAGA	0.373																																					p.V1121L		.											.	TNKS-660	0			c.G3361T						.						88.0	88.0	88.0					8																	9620743		2203	4299	6502	SO:0001583	missense	8658	exon22			CAGTCAGTGGAAG	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3361G>T	8.37:g.9620743G>T	ENSP00000311579:p.Val1121Leu	25	0		47	24	NM_003747	0	0	0	0	0	O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339207	0.95783	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.14391	2.51;2.51	6.17	6.17	0.99709	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.03212	-1.1060	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1121	O95271	TNKS1_HUMAN	L	1121;884	ENSP00000311579:V1121L;ENSP00000429890:V884L	ENSP00000311579:V1121L	V	+	1	0	TNKS	9658153	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GTG	.		0.373	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747	
PRSS55	203074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	10389053	10389053	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:10389053C>G	ENST00000328655.3	+	3	636	c.596C>G	c.(595-597)gCt>gGt	p.A199G	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.A199G	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	199	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAGACCAATGCTGGTATGTGA	0.587																																					p.A199G		.											.	PRSS55-91	0			c.C596G						.						42.0	40.0	40.0					8																	10389053		2203	4299	6502	SO:0001583	missense	203074	exon3			CCAATGCTGGTAT	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.596C>G	8.37:g.10389053C>G	ENSP00000333003:p.Ala199Gly	62	0		62	30	NM_001197020	0	0	0	0	0	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247883	0.22880	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88975	-2.45;-2.45	4.98	0.799	0.18667	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	3.294570	0.01400	N	0.013578	T	0.77412	0.4126	N	0.11154	0.105	0.09310	N	1	P	0.39576	0.679	B	0.36030	0.216	T	0.71368	-0.4614	10	0.44086	T	0.13	.	3.488	0.07627	0.163:0.4379:0.3083:0.0907	.	199	Q6UWB4	PRS55_HUMAN	G	199	ENSP00000333003:A199G;ENSP00000430459:A199G	ENSP00000333003:A199G	A	+	2	0	PRSS55	10426463	0.001000	0.12720	0.002000	0.10522	0.085000	0.17905	0.456000	0.21859	0.333000	0.23563	0.655000	0.94253	GCT	.		0.587	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
RP1L1	94137	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	10467199	10467199	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:10467199delC	ENST00000382483.3	-	4	4632	c.4409delG	c.(4408-4410)ggcfs	p.G1470fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1550					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AAGCTGGGAGCCACTCTGCCT	0.662																																					p.G1470fs		.											.	RP1L1-139	0			c.4409delG						.						49.0	56.0	53.0					8																	10467199		1995	4203	6198	SO:0001589	frameshift_variant	94137	exon4			TGGGAGCCACTCT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4409delG	8.37:g.10467199delC	ENSP00000371923:p.Gly1470fs	30	0		60	19	NM_178857	0	0	0	0	0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																			.		0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
GATA4	2626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	11607705	11607705	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:11607705C>A	ENST00000335135.4	+	4	1427	c.869C>A	c.(868-870)cCt>cAt	p.P290H	GATA4_ENST00000528712.1_Missense_Mutation_p.P84H|GATA4_ENST00000532059.1_Missense_Mutation_p.P291H	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	290					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GAGGGCGAGCCTGTGTGCAAT	0.647																																					p.P290H		.											.	GATA4-90	0			c.C869A						.						66.0	51.0	56.0					8																	11607705		2203	4300	6503	SO:0001583	missense	2626	exon4			GCGAGCCTGTGTG	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.869C>A	8.37:g.11607705C>A	ENSP00000334458:p.Pro290His	46	0		78	9	NM_002052	0	0	0	0	0	B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995164	0.74703	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99511	-6.05;-6.05;-6.05;-6.05	5.65	5.65	0.86999	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (4);	0.000000	0.64402	D	0.000001	D	0.99722	0.9892	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	D	0.97459	1.0033	10	0.87932	D	0	-15.0039	18.7189	0.91686	0.0:1.0:0.0:0.0	.	291;290	B7ZKZ4;P43694	.;GATA4_HUMAN	H	84;84;290;289;291	ENSP00000435043:P84H;ENSP00000435347:P84H;ENSP00000334458:P290H;ENSP00000435712:P291H	ENSP00000259090:P289H	P	+	2	0	GATA4	11645114	1.000000	0.71417	0.950000	0.38849	0.216000	0.24613	7.642000	0.83385	2.644000	0.89710	0.650000	0.86243	CCT	.		0.647	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052	
USP17L2	377630	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	11996101	11996101	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:11996101G>T	ENST00000333796.3	-	1	485	c.169C>A	c.(169-171)Cct>Act	p.P57T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	57					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTTGCCACAGGAGCCAAATCA	0.557																																					p.P57T		.											.	USP17L2-435	0			c.C169A						.						45.0	60.0	56.0					8																	11996101		1249	2704	3953	SO:0001583	missense	377630	exon1			CCACAGGAGCCAA	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.169C>A	8.37:g.11996101G>T	ENSP00000333329:p.Pro57Thr	65	2		66	12	NM_201402	0	0	0	0	0		Missense_Mutation	SNP	ENST00000333796.3	37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	g	9.076	0.998028	0.19043	.	.	ENSG00000223443	ENST00000333796	T	0.12361	2.69	0.36	0.36	0.16097	.	1.054730	0.07599	N	0.923369	T	0.11879	0.0289	L	0.27053	0.805	0.24638	N	0.993581	P	0.39920	0.695	B	0.42495	0.389	T	0.35798	-0.9774	10	0.72032	D	0.01	.	6.6522	0.22969	1.0E-4:0.0:0.9999:0.0	.	57	Q6R6M4	U17L2_HUMAN	T	57	ENSP00000333329:P57T	ENSP00000333329:P57T	P	-	1	0	USP17L2	12033510	1.000000	0.71417	0.027000	0.17364	0.027000	0.11550	3.152000	0.50677	0.469000	0.27268	0.472000	0.43445	CCT	.		0.557	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402	
KIAA1456	57604	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	12878570	12878570	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:12878570G>A	ENST00000524591.2	+	5	871	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	128							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAAAGAAATGGCCAGGGTCTT	0.398																																					p.A128T		.											.	KIAA1456-90	0			c.G382A						.						36.0	34.0	34.0					8																	12878570		1848	4091	5939	SO:0001583	missense	57604	exon5			GAAATGGCCAGGG	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.382G>A	8.37:g.12878570G>A	ENSP00000432695:p.Ala128Thr	111	1		136	22	NM_020844	0	0	0	0	0	Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106250	0.94292	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.49432	0.78	5.51	4.57	0.56435	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.59188	-0.7501	10	0.38643	T	0.18	-25.6489	15.4581	0.75330	0.0:0.0:0.8607:0.1393	.	128	Q9P272	K1456_HUMAN	T	128;41	ENSP00000432695:A128T	ENSP00000432695:A128T	A	+	1	0	AC135352.2	12922941	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.324000	0.72896	2.749000	0.94314	0.655000	0.94253	GCC	.		0.398	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677	
PCM1	5108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	17796410	17796410	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:17796410A>T	ENST00000519253.1	+	5	755	c.504A>T	c.(502-504)tcA>tcT	p.S168S	PCM1_ENST00000518537.1_Silent_p.S168S|PCM1_ENST00000524226.1_Silent_p.S168S|PCM1_ENST00000325083.8_Silent_p.S168S			Q15154	PCM1_HUMAN	pericentriolar material 1	168					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CGATTGGATCAGCACAGTGTA	0.428			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.S168S		.		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	PCM1-742	0			c.A504T						.						121.0	114.0	116.0					8																	17796410		1903	4119	6022	SO:0001819	synonymous_variant	5108	exon5			TGGATCAGCACAG		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.504A>T	8.37:g.17796410A>T		160	0		115	33	NM_006197	0	0	0	0	0	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37																																																																																				.		0.428	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
NAT2	10	broad.mit.edu;bcgsc.ca	37	8	18257900	18257900	+	Silent	SNP	C	C	A	rs144828000	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:18257900C>A	ENST00000286479.3	+	2	494	c.387C>A	c.(385-387)tcC>tcA	p.S129S	NAT2_ENST00000520116.1_5'UTR	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	129					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	GAAGCTCCTCCCAGATGTGGC	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.S129S		.											.	NAT2-516	0			c.C387A						.						69.0	72.0	71.0					8																	18257900		2203	4300	6503	SO:0001819	synonymous_variant	10	exon2	Familial Cancer Database	incl.: Familial Head and Neck Cancer	CTCCTCCCAGATG	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.387C>A	8.37:g.18257900C>A		61	0		47	10	NM_000015	0	0	0	0	0	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Silent	SNP	ENST00000286479.3	37	CCDS6008.1																																																																																			C|1.000;T|0.000		0.502	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015	
NAT2	10	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	18258377	18258377	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:18258377T>A	ENST00000286479.3	+	2	971	c.864T>A	c.(862-864)ctT>ctA	p.L288L	NAT2_ENST00000520116.1_Silent_p.L158L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	288					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	ATGGATCCCTTACTATTTAGA	0.383									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.L288L		.											.	NAT2-516	0			c.T864A						.						41.0	44.0	43.0					8																	18258377		2189	4233	6422	SO:0001819	synonymous_variant	10	exon2	Familial Cancer Database	incl.: Familial Head and Neck Cancer	ATCCCTTACTATT	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.864T>A	8.37:g.18258377T>A		33	0		30	8	NM_000015	0	0	0	0	0	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Silent	SNP	ENST00000286479.3	37	CCDS6008.1																																																																																			.		0.383	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015	
DOK2	9046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	21769421	21769421	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:21769421C>T	ENST00000276420.4	-	3	682	c.424G>A	c.(424-426)Gca>Aca	p.A142T	DOK2_ENST00000544659.1_Intron	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	142					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.A142T(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCTGTGACTGCGCTGCTGTAC	0.682																																					p.A142T		.											.	DOK2-226	1	Substitution - Missense(1)	endometrium(1)	c.G424A						.						63.0	57.0	59.0					8																	21769421		2184	4285	6469	SO:0001583	missense	9046	exon3			TGACTGCGCTGCT	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.424G>A	8.37:g.21769421C>T	ENSP00000276420:p.Ala142Thr	51	0		39	9	NM_003974	0	0	0	0	0	Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.583409	0.00872	.	.	ENSG00000147443	ENST00000276420;ENST00000523932	T;T	0.44083	1.98;0.93	4.8	-6.96	0.01622	.	1.697300	0.03450	N	0.210492	T	0.12944	0.0314	N	0.03948	-0.315	0.23089	N	0.998317	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.20207	-1.0282	10	0.06236	T	0.91	-5.9592	1.1474	0.01778	0.2582:0.2288:0.1011:0.4119	.	142;142	O60496;A8K7W1	DOK2_HUMAN;.	T	142	ENSP00000276420:A142T;ENSP00000429224:A142T	ENSP00000276420:A142T	A	-	1	0	DOK2	21825367	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-2.700000	0.00824	-1.914000	0.01078	-0.768000	0.03414	GCA	.		0.682	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974	
XPO7	23039	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	21842176	21842176	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:21842176C>G	ENST00000252512.9	+	12	1397	c.1297C>G	c.(1297-1299)Ctg>Gtg	p.L433V	XPO7_ENST00000433566.4_Missense_Mutation_p.L434V|XPO7_ENST00000434536.1_Missense_Mutation_p.L442V	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	433				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GGAAGATCCCCTGGAGGATAC	0.502																																					p.L433V		.											.	XPO7-273	0			c.C1297G						.						35.0	35.0	35.0					8																	21842176		1911	4121	6032	SO:0001583	missense	23039	exon12			GATCCCCTGGAGG	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1297C>G	8.37:g.21842176C>G	ENSP00000252512:p.Leu433Val	47	0		41	14	NM_015024	0	0	0	0	0	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995303	0.35226	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.66460	-0.21;-0.21;-0.21	5.4	4.53	0.55603	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.75258	0.3825	M	0.85099	2.735	0.80722	D	1	D;D;D	0.55800	0.969;0.973;0.973	P;P;P	0.51974	0.589;0.686;0.686	T	0.75269	-0.3377	10	0.15066	T	0.55	-6.1599	13.7618	0.62971	0.0:0.9252:0.0:0.0748	.	434;442;433	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	V	442;433;434	ENSP00000404853:L442V;ENSP00000252512:L433V;ENSP00000410249:L434V	ENSP00000252512:L433V	L	+	1	2	XPO7	21898122	0.954000	0.32549	0.998000	0.56505	0.660000	0.38997	2.202000	0.42743	1.289000	0.44618	-0.373000	0.07131	CTG	.		0.502	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	
PIWIL2	55124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	22147806	22147806	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:22147806G>T	ENST00000454009.2	+	10	1637	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	PIWIL2_ENST00000521356.1_Silent_p.L376L|PIWIL2_ENST00000356766.6_Silent_p.L376L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	376					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GGCTCTTCCTGCTAGCTGATG	0.478																																					p.L376L		.											.	PIWIL2-91	0			c.G1128T						.						164.0	131.0	142.0					8																	22147806		2203	4300	6503	SO:0001819	synonymous_variant	55124	exon10			CTTCCTGCTAGCT	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1128G>T	8.37:g.22147806G>T		117	0		121	40	NM_001135721	0	0	0	0	0	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	CCDS6029.1																																																																																			.		0.478	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
LOXL2	4017	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	23179795	23179795	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:23179795C>T	ENST00000389131.3	-	7	1520		c.e7-1			NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2						aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGTCCGATCCCTGCAAGGGGA	0.498																																					.		.											.	LOXL2-272	0			c.1151-1G>A						.						101.0	77.0	85.0					8																	23179795		2203	4300	6503	SO:0001630	splice_region_variant	4017	exon8			CGATCCCTGCAAG	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1151-1G>A	8.37:g.23179795C>T		115	0		111	33	NM_002318	0	0	0	0	0	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Splice_Site	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551008	0.45383	.	.	ENSG00000134013	ENST00000389131;ENST00000520349	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9606	0.89084	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LOXL2	23235740	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	7.818000	0.86416	2.565000	0.86533	0.655000	0.94253	.	.		0.498	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		Intron
NKX3-1	4824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	23538992	23538992	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:23538992C>A	ENST00000380871.4	-	2	484	c.447G>T	c.(445-447)ctG>ctT	p.L149L	NKX3-1_ENST00000523261.1_Silent_p.L74L	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	149					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CAGGGGCCGACAGGTACTTCT	0.562																																					p.L149L		.											.	NKX3-1-90	0			c.G447T						.						144.0	147.0	146.0					8																	23538992		2203	4300	6503	SO:0001819	synonymous_variant	4824	exon2			GGCCGACAGGTAC		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.447G>T	8.37:g.23538992C>A		81	0		64	21	NM_006167	0	0	0	0	0	O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Silent	SNP	ENST00000380871.4	37	CCDS6042.1																																																																																			.		0.562	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2		
NKX2-6	137814	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	23560030	23560030	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:23560030G>T	ENST00000325017.3	-	2	839	c.840C>A	c.(838-840)caC>caA	p.H280Q	NKX2-6_ENST00000418222.1_Missense_Mutation_p.H198Q	NM_001136271.2	NP_001129743.2	A6NCS4	NKX26_HUMAN	NK2 homeobox 6	280					atrial cardiac muscle cell development (GO:0055014)|cell differentiation (GO:0030154)|digestive tract development (GO:0048565)|embryonic heart tube development (GO:0035050)|hypothalamus development (GO:0021854)|negative regulation of apoptotic process (GO:0043066)|pericardium development (GO:0060039)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTGGCCACCGTGTCCGAAGC	0.711																																					p.H280Q		.											.	NKX2-6-68	0			c.C840A						.						13.0	20.0	18.0					8																	23560030		692	1591	2283	SO:0001583	missense	137814	exon2			GCCACCGTGTCCG	CN272646		8p21.2	2012-03-09	2011-06-01			ENSG00000180053		"""Homeoboxes / ANTP class : NKL subclass"""	32940	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	611770	"""NK2 transcription factor related, locus 6 (Drosophila)"""			15649947	Standard	NM_001136271		Approved	CSX2, NKX4-2	uc011kzy.3	A6NCS4		ENST00000325017.3:c.840C>A	8.37:g.23560030G>T	ENSP00000320089:p.His280Gln	16	0		68	19	NM_001136271	0	0	0	0	0		Missense_Mutation	SNP	ENST00000325017.3	37		.	.	.	.	.	.	.	.	.	.	G	2.200	-0.383183	0.04966	.	.	ENSG00000180053	ENST00000325017;ENST00000418222	D;D	0.88896	-2.23;-2.44	3.02	-3.32	0.04973	.	2.752500	0.02903	U	0.135612	T	0.74230	0.3689	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63005	-0.6733	10	0.11485	T	0.65	.	1.5914	0.02655	0.1341:0.2108:0.1818:0.4732	.	280	A6NCS4	NKX26_HUMAN	Q	280;198	ENSP00000320089:H280Q;ENSP00000402231:H198Q	ENSP00000320089:H280Q	H	-	3	2	NKX2-6	23615975	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.346000	0.02634	-0.821000	0.04312	0.491000	0.48974	CAC	.		0.711	NKX2-6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376057.4	NM_001136271	
NEFL	4747	hgsc.bcm.edu	37	8	24813479	24813479	+	RNA	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:24813479C>A	ENST00000221169.5	-	0	1145				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTCCTCGCGGCTCAGCACCTC	0.687																																					p.S184I		.											.	NEFL-24	0			c.G551T						.						14.0	15.0	14.0					8																	24813479		1962	4135	6097			4747	exon1			TCGCGGCTCAGCA		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813479C>A		6	0		40	12	NM_006158	0	0	0	0	0	B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37																																																																																				.		0.687	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158	
DOCK5	80005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	25101270	25101270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:25101270G>T	ENST00000276440.7	+	2	168	c.124G>T	c.(124-126)Gag>Tag	p.E42*	DOCK5_ENST00000481100.1_Nonsense_Mutation_p.E42*|DOCK5_ENST00000410074.1_Nonsense_Mutation_p.E42*	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	42	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGAGATGTACGAGGGTAAGTC	0.428																																					p.E42X	Pancreas(145;34 1887 3271 10937 30165)	.											.	DOCK5-71	0			c.G124T						.						99.0	79.0	86.0					8																	25101270		2203	4300	6503	SO:0001587	stop_gained	80005	exon2			ATGTACGAGGGTA		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.124G>T	8.37:g.25101270G>T	ENSP00000276440:p.Glu42*	41	0		55	18	NM_024940	0	0	0	0	0	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Nonsense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	38	6.785750	0.97837	.	.	ENSG00000147459	ENST00000410074;ENST00000481100;ENST00000276440	.	.	.	6.16	6.16	0.99307	.	0.113471	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	17.7766	0.88510	0.0:0.0:1.0:0.0	.	.	.	.	X	42	.	ENSP00000276440:E42X	E	+	1	0	DOCK5	25157187	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	6.561000	0.73955	2.937000	0.99478	0.650000	0.86243	GAG	.		0.428	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
SCARA3	51435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	27516983	27516983	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:27516983C>T	ENST00000301904.3	+	5	1316	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	SCARA3_ENST00000337221.4_Silent_p.S432S	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	432					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGAACCTCTCCATGATCGTGG	0.582																																					p.S432S		.											.	SCARA3-228	0			c.C1296T						.						49.0	41.0	43.0					8																	27516983		2203	4300	6503	SO:0001819	synonymous_variant	51435	exon5			CCTCTCCATGATC	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1296C>T	8.37:g.27516983C>T		107	0		93	17	NM_182826	0	0	0	0	0	Q9UM15|Q9UM16	Silent	SNP	ENST00000301904.3	37	CCDS34871.1																																																																																			.		0.582	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240	
ESCO2	157570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	27646479	27646479	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:27646479A>T	ENST00000305188.8	+	7	1485	c.1247A>T	c.(1246-1248)gAa>gTa	p.E416V	ESCO2_ENST00000397418.2_Missense_Mutation_p.E64V	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	416					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AGGTTTCTGGAAGGAATCAAA	0.418									SC Phocomelia syndrome																												p.E416V		.											.	ESCO2-90	0			c.A1247T						.						110.0	101.0	104.0					8																	27646479		2203	4300	6503	SO:0001583	missense	157570	exon7	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	TTCTGGAAGGAAT	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1247A>T	8.37:g.27646479A>T	ENSP00000306999:p.Glu416Val	83	0		59	17	NM_001017420	0	0	0	0	0	B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	CCDS34872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.933137|3.933137	0.73442|0.73442	.|.	.|.	ENSG00000171320|ENSG00000171320	ENST00000305188;ENST00000397418|ENST00000518262	T;T|.	0.73575|.	-0.31;-0.76|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.347229|.	0.34828|.	N|.	0.003660|.	T|.	0.67458|.	0.2895|.	M|M	0.76002|0.76002	2.32|2.32	0.47698|0.47698	D|D	0.99949|0.99949	D|.	0.76494|.	0.999|.	D|.	0.65233|.	0.933|.	T|.	0.69247|.	-0.5195|.	10|.	0.87932|.	D|.	0|.	-5.8194|-5.8194	8.9422|8.9422	0.35736|0.35736	0.9184:0.0:0.0816:0.0|0.9184:0.0:0.0816:0.0	.|.	416|.	Q56NI9|.	ESCO2_HUMAN|.	V|X	416;64|121	ENSP00000306999:E416V;ENSP00000380563:E64V|.	ENSP00000306999:E416V|.	E|K	+|+	2|1	0|0	ESCO2|ESCO2	27702398|27702398	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.979000|0.979000	0.70002|0.70002	3.543000|3.543000	0.53633|0.53633	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	GAA|AAG	.		0.418	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420	
SCARA5	286133	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	27779158	27779158	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:27779158C>A	ENST00000354914.3	-	4	1331	c.846G>T	c.(844-846)gcG>gcT	p.A282A	SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Silent_p.A239A|SCARA5_ENST00000518030.1_Silent_p.A239A|SCARA5_ENST00000524352.1_Silent_p.A282A	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	282					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CCTCGGTGACCGCGTTGAGCA	0.672																																					p.A282A		.											.	SCARA5-91	0			c.G846T						.						77.0	55.0	62.0					8																	27779158		2203	4300	6503	SO:0001819	synonymous_variant	286133	exon4			GGTGACCGCGTTG	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.846G>T	8.37:g.27779158C>A		127	1		213	61	NM_173833	0	0	0	0	0	Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	CCDS6064.1																																																																																			.		0.672	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833	
NUGGC	389643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	27898604	27898604	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:27898604C>A	ENST00000413272.2	-	13	1717	c.1575G>T	c.(1573-1575)agG>agT	p.R525S	NUGGC_ENST00000341513.6_Missense_Mutation_p.R525S	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	525					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GGTAAGAAGTCCTGGCGGTCC	0.572																																					p.R525S		.											.	.	0			c.G1575T						.						49.0	51.0	50.0					8																	27898604		2062	4216	6278	SO:0001583	missense	389643	exon13			AGAAGTCCTGGCG	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1575G>T	8.37:g.27898604C>A	ENSP00000408697:p.Arg525Ser	100	0		68	23	NM_001010906	0	0	0	0	0	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	9.283	1.048643	0.19827	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.32988	1.43;1.43	5.65	4.78	0.61160	.	0.358640	0.29009	N	0.013435	T	0.16642	0.0400	L	0.29908	0.895	0.09310	N	0.999994	P	0.35656	0.514	B	0.26864	0.074	T	0.14924	-1.0455	10	0.08837	T	0.75	-7.3799	10.22	0.43192	0.0:0.9097:0.0:0.0903	.	525	Q68CJ6	SLIP_HUMAN	S	525	ENSP00000408697:R525S;ENSP00000345031:R525S	ENSP00000345031:R525S	R	-	3	2	C8orf80	27954523	0.072000	0.21174	0.538000	0.28064	0.064000	0.16182	0.408000	0.21065	1.375000	0.46248	0.650000	0.86243	AGG	.		0.572	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906	
PURG	29942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	30889911	30889911	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:30889911C>A	ENST00000475541.1	-	1	1320	c.388G>T	c.(388-390)Ggc>Tgc	p.G130C	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.G130C	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	130						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCTTTCAGGCCCAGGTGGGCA	0.597																																					p.G130C		.											.	PURG-131	0			c.G388T						.						83.0	86.0	85.0					8																	30889911		2203	4300	6503	SO:0001583	missense	29942	exon1			TCAGGCCCAGGTG	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.388G>T	8.37:g.30889911C>A	ENSP00000418721:p.Gly130Cys	101	0		39	16	NM_013357	0	0	0	0	0	Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187380	0.78789	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.34667	1.35;1.35	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68194	-0.5473	10	0.72032	D	0.01	-7.3146	18.1426	0.89644	0.0:1.0:0.0:0.0	.	130;130	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	C	130	ENSP00000345168:G130C;ENSP00000418721:G130C	ENSP00000345168:G130C	G	-	1	0	PURG	31009453	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.686000	0.84128	2.346000	0.79739	0.655000	0.94253	GGC	.		0.597	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357	
PPAPDC1B	84513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	38123741	38123741	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:38123741C>A	ENST00000424479.2	-	6	572	c.552G>T	c.(550-552)agG>agT	p.R184S	PPAPDC1B_ENST00000530588.1_5'Flank|PPAPDC1B_ENST00000529359.1_Missense_Mutation_p.R143S|PPAPDC1B_ENST00000422581.2_Missense_Mutation_p.R184S|PPAPDC1B_ENST00000531823.1_Missense_Mutation_p.R52S	NM_001102559.1	NP_001096029.1	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	184					phospholipid dephosphorylation (GO:0046839)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			AGGCACAGAACCTCCAAGATT	0.502																																					p.R184S		.											.	.	0			c.G552T						.						83.0	89.0	87.0					8																	38123741		2015	4176	6191	SO:0001583	missense	84513	exon6			ACAGAACCTCCAA	AF212238	CCDS47841.1, CCDS47842.1, CCDS47843.1	8p12	2005-08-09			ENSG00000147535	ENSG00000147535			25026	protein-coding gene	gene with protein product		610626					Standard	NM_032483		Approved	HTPAP	uc003xlf.4	Q8NEB5	OTTHUMG00000165104	ENST00000424479.2:c.552G>T	8.37:g.38123741C>A	ENSP00000392553:p.Arg184Ser	403	0		333	58	NM_032483	0	0	0	0	0	C9JKF5|Q3KQX6|Q9BY45	Missense_Mutation	SNP	ENST00000424479.2	37	CCDS47841.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.31|19.31	3.803689|3.803689	0.70682|0.70682	.|.	.|.	ENSG00000147535|ENSG00000147535	ENST00000534339|ENST00000529359;ENST00000424479;ENST00000524616;ENST00000531823;ENST00000422581	.|T;T;T;T;T	.|0.50277	.|0.79;0.75;0.75;0.76;0.75	5.42|5.42	2.65|2.65	0.31530|0.31530	.|Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	.|0.105100	.|0.64402	.|D	.|0.000007	T|T	0.55593|0.55593	0.1930|0.1930	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|P;P	.|0.50443	.|0.593;0.935	.|P;P	.|0.57620	.|0.591;0.824	T|T	0.54629|0.54629	-0.8265|-0.8265	5|10	.|0.59425	.|D	.|0.04	-24.544|-24.544	7.5606|7.5606	0.27849|0.27849	0.0:0.6672:0.0:0.3328|0.0:0.6672:0.0:0.3328	.|.	.|184;184	.|Q8NEB5-2;Q8NEB5	.|.;PPC1B_HUMAN	V|S	164|143;184;165;52;184	.|ENSP00000434916:R143S;ENSP00000392553:R184S;ENSP00000432122:R165S;ENSP00000437248:R52S;ENSP00000390622:R184S	.|ENSP00000390622:R184S	G|R	-|-	2|3	0|2	PPAPDC1B|PPAPDC1B	38242898|38242898	0.472000|0.472000	0.25870|0.25870	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	-0.182000|-0.182000	0.09726|0.09726	0.674000|0.674000	0.31244|0.31244	0.557000|0.557000	0.71058|0.71058	GGT|AGG	.		0.502	PPAPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381832.2	NM_032483	
ADAM9	8754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	38880770	38880770	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:38880770G>T	ENST00000487273.2	+	9	918	c.840G>T	c.(838-840)gtG>gtT	p.V280V		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	280	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTGGTGATGTGCTGGGGAACT	0.418																																					p.V280V		.											.	ADAM9-227	0			c.G840T						.						149.0	136.0	140.0					8																	38880770		2203	4300	6503	SO:0001819	synonymous_variant	8754	exon9			TGATGTGCTGGGG	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.840G>T	8.37:g.38880770G>T		130	0		184	81	NM_003816	0	0	0	0	0	B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	CCDS6112.1																																																																																			.		0.418	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2		
KAT6A	7994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	41790513	41790513	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:41790513C>T	ENST00000396930.3	-	18	5768	c.5225G>A	c.(5224-5226)gGc>gAc	p.G1742D	KAT6A_ENST00000406337.1_Missense_Mutation_p.G1742D|KAT6A_ENST00000265713.2_Missense_Mutation_p.G1742D	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1742					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGAGTAGCTGCCGGCACCAAA	0.502																																					p.G1742D		.											.	.	0			c.G5225A						.						169.0	170.0	169.0					8																	41790513		2203	4300	6503	SO:0001583	missense	7994	exon18			TAGCTGCCGGCAC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5225G>A	8.37:g.41790513C>T	ENSP00000380136:p.Gly1742Asp	126	0		92	37	NM_001099412	0	0	0	0	0	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417510	0.42918	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.70399	-0.48;-0.48;-0.48	5.63	5.63	0.86233	.	0.220723	0.39475	N	0.001342	T	0.68109	0.2965	L	0.32530	0.975	0.58432	D	0.999997	D	0.56521	0.976	P	0.47102	0.537	T	0.67031	-0.5773	10	0.35671	T	0.21	-8.0146	19.69	0.95996	0.0:1.0:0.0:0.0	.	1742	Q92794	KAT6A_HUMAN	D	1742	ENSP00000265713:G1742D;ENSP00000385888:G1742D;ENSP00000380136:G1742D	ENSP00000265713:G1742D	G	-	2	0	KAT6A	41909670	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.437000	0.80417	2.643000	0.89663	0.650000	0.86243	GGC	.		0.502	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
PXDNL	137902	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	52233364	52233364	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:52233364A>C	ENST00000356297.4	-	22	4340	c.4240T>G	c.(4240-4242)Tgc>Ggc	p.C1414G	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1414	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGTGAGTGCAGTCTTCTTTC	0.493																																					p.C1414G		.											.	PXDNL-70	0			c.T4240G						.						128.0	140.0	136.0					8																	52233364		1933	4132	6065	SO:0001583	missense	137902	exon22			GAGTGCAGTCTTC		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4240T>G	8.37:g.52233364A>C	ENSP00000348645:p.Cys1414Gly	69	0		104	52	NM_144651	0	0	0	0	0	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666007	0.29604	.	.	ENSG00000147485	ENST00000356297	D	0.92099	-2.97	4.26	4.26	0.50523	von Willebrand factor, type C (4);	.	.	.	.	D	0.96664	0.8911	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96740	0.9546	9	0.87932	D	0	.	9.7719	0.40595	1.0:0.0:0.0:0.0	.	1414	A1KZ92	PXDNL_HUMAN	G	1414	ENSP00000348645:C1414G	ENSP00000348645:C1414G	C	-	1	0	PXDNL	52395917	0.805000	0.28982	0.206000	0.23566	0.009000	0.06853	1.660000	0.37397	1.557000	0.49525	0.533000	0.62120	TGC	.		0.493	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
PXDNL	137902	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	52284587	52284587	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:52284587C>A	ENST00000356297.4	-	19	3847	c.3747G>T	c.(3745-3747)aaG>aaT	p.K1249N	PXDNL_ENST00000543296.1_Missense_Mutation_p.K1249N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1249					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGACGCCTGCTTCAGCTGAG	0.498																																					p.K1249N		.											.	PXDNL-70	0			c.G3747T						.						44.0	43.0	44.0					8																	52284587		1917	4132	6049	SO:0001583	missense	137902	exon19			CGCCTGCTTCAGC		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3747G>T	8.37:g.52284587C>A	ENSP00000348645:p.Lys1249Asn	98	1		124	63	NM_144651	0	0	0	0	0	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.92|12.92	2.081685|2.081685	0.36758|0.36758	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.72942|.	-0.7;-0.7|.	4.89|4.89	-6.34|-6.34	0.01982|0.01982	.|.	0.302465|.	0.22770|.	U|.	0.055841|.	T|T	0.64438|0.64438	0.2598|0.2598	M|M	0.84082|0.84082	2.675|2.675	0.26794|0.26794	N|N	0.969347|0.969347	D|.	0.67145|.	0.996|.	D|.	0.70227|.	0.968|.	T|T	0.66416|0.66416	-0.5929|-0.5929	10|5	0.66056|.	D|.	0.02|.	.|.	16.2281|16.2281	0.82311|0.82311	0.0:0.7562:0.0:0.2438|0.0:0.7562:0.0:0.2438	.|.	1249|.	A1KZ92|.	PXDNL_HUMAN|.	N|I	1249|323	ENSP00000348645:K1249N;ENSP00000444865:K1249N|.	ENSP00000348645:K1249N|.	K|S	-|-	3|2	2|0	PXDNL|PXDNL	52447140|52447140	0.149000|0.149000	0.22717|0.22717	0.000000|0.000000	0.03702|0.03702	0.222000|0.222000	0.24845|0.24845	-0.083000|-0.083000	0.11286|0.11286	-1.586000|-1.586000	0.01632|0.01632	-0.339000|-0.339000	0.08088|0.08088	AAG|AGC	.		0.498	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
RP1	6101	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	55537620	55537620	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:55537620C>A	ENST00000220676.1	+	4	1326	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	393					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGTGTCACCTATGGAGCGA	0.423																																					p.P393H	Colon(91;1014 1389 7634 14542 40420)	.											.	RP1-102	0			c.C1178A						.						77.0	74.0	75.0					8																	55537620		2203	4300	6503	SO:0001583	missense	6101	exon4			TGTCACCTATGGA	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1178C>A	8.37:g.55537620C>A	ENSP00000220676:p.Pro393His	198	2		216	62	NM_006269	0	0	0	0	0		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	4.173	0.030700	0.08101	.	.	ENSG00000104237	ENST00000220676	T	0.29397	1.57	4.03	2.06	0.26882	.	0.641212	0.13859	N	0.357835	T	0.26810	0.0656	L	0.44542	1.39	0.09310	N	1	D	0.54047	0.964	P	0.46975	0.533	T	0.14559	-1.0468	10	0.66056	D	0.02	.	3.3892	0.07282	0.0:0.5264:0.2209:0.2527	.	393	P56715	RP1_HUMAN	H	393	ENSP00000220676:P393H	ENSP00000220676:P393H	P	+	2	0	RP1	55700173	0.424000	0.25490	0.003000	0.11579	0.027000	0.11550	0.783000	0.26802	0.700000	0.31782	0.650000	0.86243	CCT	.		0.423	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
XKR4	114786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	56435991	56435991	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:56435991G>T	ENST00000327381.6	+	3	1258	c.1158G>T	c.(1156-1158)agG>agT	p.R386S	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	386						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCGCCGCCAGGGTCATCACGT	0.547																																					p.R386S		.											.	XKR4-92	0			c.G1158T						.						315.0	245.0	269.0					8																	56435991		2203	4300	6503	SO:0001583	missense	114786	exon3			CGCCAGGGTCATC	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1158G>T	8.37:g.56435991G>T	ENSP00000328326:p.Arg386Ser	186	0		270	115	NM_052898	0	0	0	0	0	Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108311	0.56291	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.79352	-1.26	5.56	0.104	0.14531	.	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	M	0.85041	2.73	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.81562	-0.0876	10	0.87932	D	0	-9.7419	5.1706	0.15108	0.4328:0.1418:0.4255:0.0	.	386	Q5GH76	XKR4_HUMAN	S	386	ENSP00000328326:R386S	ENSP00000328326:R386S	R	+	3	2	XKR4	56598545	0.969000	0.33509	0.997000	0.53966	0.981000	0.71138	0.133000	0.15912	-0.050000	0.13356	0.557000	0.71058	AGG	.		0.547	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898	
TOX	9760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	59750748	59750748	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:59750748A>T	ENST00000361421.1	-	5	1036	c.816T>A	c.(814-816)ttT>ttA	p.F272L		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	272						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F272F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GAGTATCACGAAAGAATAACG	0.473																																					p.F272L	Pancreas(161;610 1969 17913 21374 22725)	.											.	TOX-227	1	Substitution - coding silent(1)	large_intestine(1)	c.T816A						.						115.0	114.0	114.0					8																	59750748		2203	4300	6503	SO:0001583	missense	9760	exon5			ATCACGAAAGAAT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.816T>A	8.37:g.59750748A>T	ENSP00000354842:p.Phe272Leu	136	0		164	73	NM_014729	0	0	0	0	0	Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552917	0.86127	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.39997	1.05	5.59	0.553	0.17235	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	L	0.28649	0.875	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.17228	-1.0376	9	.	.	.	.	9.3957	0.38401	0.458:0.0:0.542:0.0	.	272	O94900	TOX_HUMAN	L	272;30	ENSP00000354842:F272L	.	F	-	3	2	TOX	59913302	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.076000	0.30729	0.098000	0.17522	0.482000	0.46254	TTT	.		0.473	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	
CHD7	55636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	61654436	61654436	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:61654436G>T	ENST00000423902.2	+	2	924	c.445G>T	c.(445-447)Gct>Tct	p.A149S	CHD7_ENST00000524602.1_Missense_Mutation_p.A149S|CHD7_ENST00000525508.1_Missense_Mutation_p.A149S	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	149					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGCCCCAGGGCTGTTCAGGT	0.657																																					p.A149S		.											.	CHD7-141	0			c.G445T						.						30.0	36.0	34.0					8																	61654436		2086	4241	6327	SO:0001583	missense	55636	exon2			CCCAGGGCTGTTC	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.445G>T	8.37:g.61654436G>T	ENSP00000392028:p.Ala149Ser	129	0		231	116	NM_017780	0	0	0	0	0	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052870	0.36181	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	T;T;T	0.56103	0.48;0.48;0.48	5.24	5.24	0.73138	.	0.000000	0.40469	N	0.001086	T	0.41903	0.1179	L	0.38175	1.15	0.41672	D	0.989245	P	0.43750	0.816	B	0.35039	0.194	T	0.34775	-0.9815	10	0.25106	T	0.35	-9.8896	18.8218	0.92100	0.0:0.0:1.0:0.0	.	149	Q9P2D1	CHD7_HUMAN	S	149	ENSP00000392028:A149S;ENSP00000437061:A149S;ENSP00000436027:A149S	ENSP00000307304:A149S	A	+	1	0	CHD7	61816990	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.025000	0.64097	2.471000	0.83476	0.655000	0.94253	GCT	.		0.657	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
CHD7	55636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	61765660	61765660	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:61765660G>C	ENST00000423902.2	+	31	6855	c.6376G>C	c.(6376-6378)Gat>Cat	p.D2126H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2126					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATCCTTCTTGGATGCACATAA	0.493																																					p.D2126H		.											.	CHD7-141	0			c.G6376C						.						74.0	79.0	77.0					8																	61765660		1982	4162	6144	SO:0001583	missense	55636	exon31			TTCTTGGATGCAC	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6376G>C	8.37:g.61765660G>C	ENSP00000392028:p.Asp2126His	181	0		249	110	NM_017780	0	0	0	0	0	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374429	0.82573	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.73363	-0.74	5.41	5.41	0.78517	.	0.197467	0.43747	D	0.000527	T	0.76111	0.3942	L	0.47190	1.495	0.54753	D	0.999983	P	0.40660	0.726	P	0.45913	0.497	T	0.76154	-0.3063	10	0.46703	T	0.11	-10.1956	19.215	0.93772	0.0:0.0:1.0:0.0	.	2126	Q9P2D1	CHD7_HUMAN	H	2126	ENSP00000392028:D2126H	ENSP00000307304:D2126H	D	+	1	0	CHD7	61928214	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.854000	0.99522	2.539000	0.85634	0.655000	0.94253	GAT	.		0.493	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
YTHDF3	253943	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	64099049	64099049	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:64099049T>G	ENST00000539294.1	+	4	793	c.477T>G	c.(475-477)agT>agG	p.S159R	YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	160							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATCCACCTAGTTCTCTTGGGA	0.453																																					.		.											.	.	0			.						.						64.0	63.0	63.0					8																	64099049		1995	4192	6187	SO:0001583	missense	253943	.			ACCTAGTTCTCTT	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.477T>G	8.37:g.64099049T>G	ENSP00000473496:p.Ser159Arg	185	0		262	84	.	0	0	0	0	0	B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37																																																																																				.		0.453	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758	
VCPIP1	80124	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	67576973	67576973	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:67576973C>A	ENST00000310421.4	-	1	2479	c.2221G>T	c.(2221-2223)Ggg>Tgg	p.G741W	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	741					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGGGTTGCCCTTTTTGTTCT	0.428																																					p.G741W	NSCLC(179;265 2915 6144 43644)	.											.	VCPIP1-662	0			c.G2221T						.						177.0	174.0	175.0					8																	67576973		2203	4300	6503	SO:0001583	missense	80124	exon1			GTTGCCCTTTTTG	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2221G>T	8.37:g.67576973C>A	ENSP00000309031:p.Gly741Trp	131	1		179	38	NM_025054	0	0	0	0	0	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973516	0.53720	.	.	ENSG00000175073	ENST00000310421	T	0.38240	1.15	5.55	5.55	0.83447	.	0.058079	0.64402	D	0.000002	T	0.43787	0.1263	L	0.47716	1.5	0.52099	D	0.999943	P	0.50710	0.938	P	0.47673	0.554	T	0.41360	-0.9513	10	0.87932	D	0	-3.5529	19.5026	0.95103	0.0:1.0:0.0:0.0	.	741	Q96JH7	VCIP1_HUMAN	W	741	ENSP00000309031:G741W	ENSP00000309031:G741W	G	-	1	0	VCPIP1	67739527	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	5.416000	0.66417	2.587000	0.87381	0.655000	0.94253	GGG	.		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1		
PPP1R42	286187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	67926709	67926709	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:67926709C>G	ENST00000324682.5	-	3	392	c.248G>C	c.(247-249)tGt>tCt	p.C83S	PPP1R42_ENST00000522909.1_Missense_Mutation_p.C83S|PPP1R42_ENST00000517834.1_Intron	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	83					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										ACATGAAATACAATTGTTTTG	0.269																																					p.C83S		.											.	.	0			c.G248C						.						93.0	106.0	101.0					8																	67926709		2203	4294	6497	SO:0001583	missense	286187	exon3			GAAATACAATTGT	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.248G>C	8.37:g.67926709C>G	ENSP00000315035:p.Cys83Ser	53	0		81	25	NM_001013626	0	0	0	0	0		Missense_Mutation	SNP	ENST00000324682.5	37	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362473	0.24684	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.07114	3.22;3.22	5.76	3.98	0.46160	.	0.136969	0.64402	D	0.000002	T	0.04227	0.0117	N	0.08118	0	0.41118	D	0.98579	B	0.06786	0.001	B	0.11329	0.006	T	0.31447	-0.9943	10	0.07990	T	0.79	-0.0324	12.4696	0.55779	0.0:0.8644:0.0:0.1356	.	83	Q7Z4L9-2	.	S	83	ENSP00000429721:C83S;ENSP00000315035:C83S	ENSP00000315035:C83S	C	-	2	0	LRRC67	68089263	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	3.035000	0.49759	0.792000	0.33850	-0.229000	0.12294	TGT	.		0.269	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626	
PREX2	80243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	69069640	69069640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:69069640G>T	ENST00000288368.4	+	35	4592	c.4315G>T	c.(4315-4317)Gaa>Taa	p.E1439*		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1439					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCCTCACTGGAAAAGGTCAA	0.343																																					p.E1439X		.											.	PREX2-390	0			c.G4315T						.						105.0	105.0	105.0					8																	69069640		2203	4300	6503	SO:0001587	stop_gained	80243	exon35			TCACTGGAAAAGG	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4315G>T	8.37:g.69069640G>T	ENSP00000288368:p.Glu1439*	208	0		295	94	NM_024870	0	0	0	0	0	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Nonsense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	49	15.199502	0.99826	.	.	ENSG00000046889	ENST00000288368	.	.	.	5.7	5.7	0.88788	.	0.114726	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	.	.	.	X	1439	.	ENSP00000288368:E1439X	E	+	1	0	PREX2	69232194	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.429000	0.97481	2.683000	0.91414	0.650000	0.86243	GAA	.		0.343	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
PRDM14	63978	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	70981760	70981760	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:70981760C>A	ENST00000276594.2	-	2	537	c.336G>T	c.(334-336)ccG>ccT	p.P112P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	112					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCAGGAAGGGCGGCACTTCCC	0.632																																					p.P112P	NSCLC(129;99 1813 5906 40656 46114)	.											.	PRDM14-93	0			c.G336T						.						35.0	26.0	29.0					8																	70981760		2203	4300	6503	SO:0001819	synonymous_variant	63978	exon2			GAAGGGCGGCACT	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.336G>T	8.37:g.70981760C>A		70	1		98	27	NM_024504	0	0	0	0	0	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																			.		0.632	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		
NCOA2	10499	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	71036168	71036168	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:71036168G>A	ENST00000452400.2	-	21	4425	c.4244C>T	c.(4243-4245)tCa>tTa	p.S1415L	NCOA2_ENST00000267974.4_Missense_Mutation_p.S503L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1415					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGAGGTCACTGAGGTCATGCT	0.527			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																p.S1415L		.		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	NCOA2-639	0			c.C4244T						.						124.0	119.0	121.0					8																	71036168		2178	4260	6438	SO:0001583	missense	10499	exon21			GTCACTGAGGTCA	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.4244C>T	8.37:g.71036168G>A	ENSP00000399968:p.Ser1415Leu	206	2		323	43	NM_006540	0	0	0	0	0	Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.452795|5.452795	0.96223|0.96223	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.08282	.|4.54;3.11	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.23171	.|0.0560	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.994	.|D;D	.|0.74348	.|0.956;0.983	.|T	.|0.00115	.|-1.2039	.|10	.|0.87932	.|D	.|0	.|.	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|503;1415	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	X|L	516|1415;503	.|ENSP00000399968:S1415L;ENSP00000267974:S503L	.|ENSP00000267974:S503L	Q|S	-|-	1|2	0|0	NCOA2|NCOA2	71198722|71198722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.260000|7.260000	0.78391|0.78391	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	CAG|TCA	.		0.527	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
KCNB2	9312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	73480116	73480116	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:73480116G>T	ENST00000523207.1	+	2	735	c.147G>T	c.(145-147)ctG>ctT	p.L49L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	49					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACGAAGTCCTGTGGAGAACGC	0.562																																					p.L49L		.											.	KCNB2-158	0			c.G147T						.						77.0	79.0	78.0					8																	73480116		2203	4300	6503	SO:0001819	synonymous_variant	9312	exon2			AGTCCTGTGGAGA	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.147G>T	8.37:g.73480116G>T		168	0		199	59	NM_004770	0	0	0	0	0	Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	CCDS6209.1																																																																																			.		0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
KCNB2	9312	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	73849028	73849028	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:73849028G>T	ENST00000523207.1	+	3	2026	c.1438G>T	c.(1438-1440)Gac>Tac	p.D480Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	480					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CAACACAAAGGACTCCGCCGA	0.512																																					p.D480Y		.											.	KCNB2-158	0			c.G1438T						.						72.0	81.0	78.0					8																	73849028		2203	4300	6503	SO:0001583	missense	9312	exon3			ACAAAGGACTCCG	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1438G>T	8.37:g.73849028G>T	ENSP00000430846:p.Asp480Tyr	86	2		115	32	NM_004770	0	0	0	0	0	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285031	0.40394	.	.	ENSG00000182674	ENST00000523207	T	0.32515	1.45	5.74	4.87	0.63330	.	2.214800	0.02269	N	0.068296	T	0.51092	0.1654	L	0.49126	1.545	0.36381	D	0.861908	P	0.47677	0.899	P	0.58660	0.843	T	0.03453	-1.1035	10	0.56958	D	0.05	.	10.8103	0.46543	0.144:0.0:0.856:0.0	.	480	Q92953	KCNB2_HUMAN	Y	480	ENSP00000430846:D480Y	ENSP00000430846:D480Y	D	+	1	0	KCNB2	74011582	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	4.853000	0.62911	1.429000	0.47314	0.655000	0.94253	GAC	.		0.512	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
ZFHX4	79776	ucsc.edu;bcgsc.ca	37	8	77617610	77617610	+	Silent	SNP	G	G	T	rs376434723		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77617610G>T	ENST00000521891.2	+	2	1735	c.1287G>T	c.(1285-1287)tcG>tcT	p.S429S	ZFHX4_ENST00000518282.1_Silent_p.S429S|ZFHX4_ENST00000455469.2_Silent_p.S429S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.S429S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCACTCATCGTCTGAGTCTA	0.493										HNSCC(33;0.089)																											p.S429S		.											.	ZFHX4-98	0			c.G1287T						.						48.0	46.0	47.0					8																	77617610		1967	4167	6134	SO:0001819	synonymous_variant	79776	exon2			CTCATCGTCTGAG		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1287G>T	8.37:g.77617610G>T		142	2		163	36	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																			.		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	77618388	77618388	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77618388G>T	ENST00000521891.2	+	2	2513	c.2065G>T	c.(2065-2067)Ggt>Tgt	p.G689C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G689C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G689C|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G689C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	689					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCTTGCCCGGGGTGAGAGTTA	0.517										HNSCC(33;0.089)																											p.G689C		.											.	ZFHX4-98	0			c.G2065T						.						43.0	48.0	46.0					8																	77618388		2152	4279	6431	SO:0001583	missense	79776	exon2			GCCCGGGGTGAGA		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2065G>T	8.37:g.77618388G>T	ENSP00000430497:p.Gly689Cys	119	0		119	73	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724566	0.48833	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56941	0.49;0.47;0.44;0.43	4.98	4.98	0.66077	.	0.000000	0.45126	U	0.000387	T	0.78685	0.4322	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.83168	-0.0095	10	0.87932	D	0	.	18.7896	0.91968	0.0:0.0:1.0:0.0	.	689;689;689;689	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	C	689	ENSP00000430497:G689C;ENSP00000399605:G689C;ENSP00000050961:G689C;ENSP00000430848:G689C	ENSP00000050961:G689C	G	+	1	0	ZFHX4	77780943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.592000	0.98245	2.737000	0.93849	0.637000	0.83480	GGT	.		0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	77620165	77620165	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77620165delC	ENST00000521891.2	+	3	3423	c.2975delC	c.(2974-2976)gccfs	p.A992fs	ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.A966fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.A966fs|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.A966fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	966					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGTGTATTGCCATTGGCAAC	0.448										HNSCC(33;0.089)																											p.A992fs		.											.	ZFHX4-98	0			c.2975delC						.						107.0	108.0	107.0					8																	77620165		2137	4252	6389	SO:0001589	frameshift_variant	79776	exon3			GTATTGCCATTGG		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2975delC	8.37:g.77620165delC	ENSP00000430497:p.Ala992fs	193	0		290	69	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	CCDS47878.2																																																																																			.		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	77763363	77763363	+	Silent	SNP	T	T	C	rs374254479		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77763363T>C	ENST00000521891.2	+	10	4654	c.4206T>C	c.(4204-4206)tgT>tgC	p.C1402C	ZFHX4_ENST00000518282.1_Silent_p.C1376C|ZFHX4_ENST00000455469.2_Silent_p.C1357C|ZFHX4_ENST00000050961.6_Silent_p.C1357C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTAACCATTGTAGCTTGGCTT	0.448										HNSCC(33;0.089)																											p.C1402C		.											.	ZFHX4-98	0			c.T4206C						.	T		0,3792		0,0,1896	82.0	76.0	78.0		4206	-0.8	1.0	8		78	1,8241		0,1,4120	no	coding-synonymous	ZFHX4	NM_024721.4		0,1,6016	CC,CT,TT		0.0121,0.0,0.0083		1402/3617	77763363	1,12033	1896	4121	6017	SO:0001819	synonymous_variant	79776	exon10			CCATTGTAGCTTG		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4206T>C	8.37:g.77763363T>C		159	1		141	43	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																			.		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	77763737	77763737	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77763737C>A	ENST00000521891.2	+	10	5028	c.4580C>A	c.(4579-4581)cCc>cAc	p.P1527H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1501H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1482H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1482H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAAAAGGGCCCAATTTTACG	0.423										HNSCC(33;0.089)																											p.P1527H		.											.	ZFHX4-98	0			c.C4580A						.						48.0	46.0	47.0					8																	77763737		1885	4119	6004	SO:0001583	missense	79776	exon10			AAGGGCCCAATTT		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4580C>A	8.37:g.77763737C>A	ENSP00000430497:p.Pro1527His	172	1		247	78	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820335	0.50633	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52295	0.67;0.72;0.7;0.69	5.05	5.05	0.67936	.	0.000000	0.44285	U	0.000480	T	0.62768	0.2455	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.956;0.98;0.98	T	0.64956	-0.6285	10	0.72032	D	0.01	.	18.5796	0.91166	0.0:1.0:0.0:0.0	.	1482;1482;1527	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1527;1527;1482;1482;1501	ENSP00000430497:P1527H;ENSP00000399605:P1482H;ENSP00000050961:P1482H;ENSP00000430848:P1501H	ENSP00000050961:P1482H	P	+	2	0	ZFHX4	77926292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.629000	0.89072	0.555000	0.69702	CCC	.		0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu;bcgsc.ca	37	8	77764446	77764446	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77764446G>T	ENST00000521891.2	+	10	5737	c.5289G>T	c.(5287-5289)ggG>ggT	p.G1763G	ZFHX4_ENST00000518282.1_Silent_p.G1737G|ZFHX4_ENST00000455469.2_Silent_p.G1718G|ZFHX4_ENST00000050961.6_Silent_p.G1718G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1718	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCACATTTGGGATGCCTGGCA	0.498										HNSCC(33;0.089)																											p.G1763G		.											.	ZFHX4-98	0			c.G5289T						.						40.0	38.0	38.0					8																	77764446		2076	4234	6310	SO:0001819	synonymous_variant	79776	exon10			ATTTGGGATGCCT		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5289G>T	8.37:g.77764446G>T		62	1		65	33	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																			.		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	ucsc.edu;bcgsc.ca	37	8	77766416	77766416	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77766416C>A	ENST00000521891.2	+	10	7707	c.7259C>A	c.(7258-7260)cCc>cAc	p.P2420H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2394H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2375H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2375H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2375	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCCCTCTCCCCCTTCTCAA	0.572										HNSCC(33;0.089)																											p.P2420H		.											.	ZFHX4-98	0			c.C7259A						.						40.0	66.0	57.0					8																	77766416		2033	4166	6199	SO:0001583	missense	79776	exon10			CCTCTCCCCCTTC		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7259C>A	8.37:g.77766416C>A	ENSP00000430497:p.Pro2420His	172	2		227	104	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442377	0.25987	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.48522	0.81;0.86;0.82;0.82	4.86	3.99	0.46301	.	0.530561	0.15642	U	0.251801	T	0.48077	0.1480	L	0.40543	1.245	0.26301	N	0.977973	B;P;P	0.41569	0.214;0.755;0.545	B;P;B	0.46479	0.241;0.518;0.421	T	0.42241	-0.9463	10	0.59425	D	0.04	.	13.545	0.61697	0.0:0.9243:0.0:0.0757	.	2375;2375;2420	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2420;2404;2375;2375;2394	ENSP00000430497:P2420H;ENSP00000399605:P2375H;ENSP00000050961:P2375H;ENSP00000430848:P2394H	ENSP00000050961:P2375H	P	+	2	0	ZFHX4	77928971	0.228000	0.23718	0.400000	0.26346	0.671000	0.39405	2.020000	0.41010	1.269000	0.44280	0.650000	0.86243	CCC	.		0.572	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	77776722	77776722	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:77776722C>G	ENST00000521891.2	+	11	11220	c.10772C>G	c.(10771-10773)tCt>tGt	p.S3591C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3565C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3546C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3542C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTAGATAATTCTTTGGAAGTG	0.463										HNSCC(33;0.089)																											p.S3591C		.											.	ZFHX4-98	0			c.C10772G						.						46.0	45.0	46.0					8																	77776722		1960	4170	6130	SO:0001583	missense	79776	exon11			ATAATTCTTTGGA		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10772C>G	8.37:g.77776722C>G	ENSP00000430497:p.Ser3591Cys	178	0		262	38	NM_024721	0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048074	0.36085	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52983	0.64;0.69;0.66;0.66	4.6	4.6	0.57074	.	0.164157	0.28549	U	0.014942	T	0.56761	0.2007	L	0.36672	1.1	0.41745	D	0.989638	D	0.64830	0.994	P	0.59643	0.861	T	0.61633	-0.7023	10	0.72032	D	0.01	.	17.9764	0.89129	0.0:1.0:0.0:0.0	.	3546	Q86UP3-4	.	C	3591;3575;3546;3542;3565	ENSP00000430497:S3591C;ENSP00000399605:S3546C;ENSP00000050961:S3542C;ENSP00000430848:S3565C	ENSP00000050961:S3542C	S	+	2	0	ZFHX4	77939277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.493000	0.66899	2.551000	0.86045	0.650000	0.86243	TCT	.		0.463	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZBTB10	65986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	81412557	81412557	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:81412557G>T	ENST00000430430.1	+	3	2580	c.1801G>T	c.(1801-1803)Gta>Tta	p.V601L	ZBTB10_ENST00000455036.3_Missense_Mutation_p.V601L|ZBTB10_ENST00000379091.4_Missense_Mutation_p.V309L|ZBTB10_ENST00000426744.2_Missense_Mutation_p.V601L	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	601					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)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AGATTGCTCAGTAATGCAGCC	0.338																																					p.V601L		.											.	ZBTB10-522	0			c.G1801T						.						9.0	9.0	9.0					8																	81412557		1819	3997	5816	SO:0001583	missense	65986	exon2			TGCTCAGTAATGC	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1801G>T	8.37:g.81412557G>T	ENSP00000387462:p.Val601Leu	131	0		143	72	NM_023929	0	0	0	0	0	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	7.647	0.682010	0.14907	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.5	4.62	0.57501	.	0.368522	0.29260	N	0.012662	T	0.22126	0.0533	N	0.24115	0.695	0.31006	N	0.719728	B;B;B;P	0.35527	0.302;0.302;0.114;0.507	B;B;B;B	0.27170	0.045;0.05;0.015;0.077	T	0.16335	-1.0406	10	0.13470	T	0.59	.	8.6363	0.33950	0.2279:0.0:0.7721:0.0	.	457;601;601;309	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	L	309;601;601;601;429	ENSP00000368384:V309L;ENSP00000387462:V601L;ENSP00000412036:V601L;ENSP00000416134:V601L	ENSP00000368384:V309L	V	+	1	0	ZBTB10	81575112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.546000	0.36179	1.325000	0.45301	0.650000	0.86243	GTA	.		0.338	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929	
PMP2	5375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	82359617	82359617	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:82359617C>T	ENST00000256103.2	-	1	141	c.5G>A	c.(4-6)aGc>aAc	p.S2N	PMP2_ENST00000519260.1_Missense_Mutation_p.S2N|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	2					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GAATTTGTTGCTCATCGTGAT	0.423																																					p.S2N		.											.	PMP2-90	0			c.G5A						.						105.0	101.0	102.0					8																	82359617		2203	4300	6503	SO:0001583	missense	5375	exon1			TTGTTGCTCATCG	X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"""Fatty acid binding protein family"""	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.5G>A	8.37:g.82359617C>T	ENSP00000256103:p.Ser2Asn	110	0		122	37	NM_002677	0	0	0	0	0	Q6FHL4	Missense_Mutation	SNP	ENST00000256103.2	37	CCDS6229.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710718	0.30322	.	.	ENSG00000147588	ENST00000256103;ENST00000519260	T;T	0.42513	2.74;0.97	5.98	3.95	0.45737	.	0.275476	0.40554	N	0.001077	T	0.28134	0.0694	N	0.24115	0.695	0.21147	N	0.999772	B	0.15473	0.013	B	0.15870	0.014	T	0.23904	-1.0175	10	0.87932	D	0	.	8.4025	0.32594	0.0:0.757:0.146:0.097	.	2	P02689	MYP2_HUMAN	N	2	ENSP00000256103:S2N;ENSP00000429917:S2N	ENSP00000256103:S2N	S	-	2	0	PMP2	82522172	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.390000	0.44416	0.662000	0.31006	0.650000	0.86243	AGC	.		0.423	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379365.1	NM_002677	
CA13	377677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	86162997	86162997	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:86162997T>A	ENST00000321764.3	+	2	368	c.66T>A	c.(64-66)ccT>ccA	p.P22P	RP11-219B4.6_ENST00000551479.1_5'Flank|CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	22					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	AATTTTTCCCTATTGCTGATG	0.348																																					p.P22P		.											.	CA13-90	0			c.T66A						.						82.0	85.0	84.0					8																	86162997		2203	4300	6503	SO:0001819	synonymous_variant	377677	exon2			TTTCCCTATTGCT	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.66T>A	8.37:g.86162997T>A		183	0		234	104	NM_198584	0	0	0	0	0		Silent	SNP	ENST00000321764.3	37	CCDS6236.1																																																																																			.		0.348	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584	
PSKH2	85481	bcgsc.ca	37	8	87076709	87076709	+	Silent	SNP	G	G	T	rs375694521		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:87076709G>T	ENST00000276616.2	-	2	411	c.337C>A	c.(337-339)Cgg>Agg	p.R113R	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R113W(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CTAACCCGCCGCAGGACGCTC	0.507																																					p.R113R		.											.	PSKH2-385	1	Substitution - Missense(1)	lung(1)	c.C337A						.						99.0	86.0	90.0					8																	87076709		2203	4300	6503	SO:0001819	synonymous_variant	85481	exon2			CCCGCCGCAGGAC	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.337C>A	8.37:g.87076709G>T		103	3		152	63	NM_033126	0	0	0	0	0	A0AV22	Silent	SNP	ENST00000276616.2	37	CCDS6240.1																																																																																			.		0.507	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126	
ATP6V0D2	245972	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	87162446	87162446	+	Missense_Mutation	SNP	C	C	A	rs187338795	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:87162446C>A	ENST00000285393.3	+	6	887	c.745C>A	c.(745-747)Cct>Act	p.P249T	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	249					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CAAACTCTATCCTGAGGGGTT	0.493																																					p.P249T		.											.	ATP6V0D2-90	0			c.C745A						.						108.0	99.0	102.0					8																	87162446		2203	4300	6503	SO:0001583	missense	245972	exon6			CTCTATCCTGAGG	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.745C>A	8.37:g.87162446C>A	ENSP00000285393:p.Pro249Thr	106	1		202	69	NM_152565	0	0	0	0	0		Missense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710755	0.68730	.	.	ENSG00000147614	ENST00000285393	T	0.30981	1.51	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77970	-0.2387	10	0.87932	D	0	-19.6563	19.8676	0.96824	0.0:1.0:0.0:0.0	.	249	Q8N8Y2	VA0D2_HUMAN	T	249	ENSP00000285393:P249T	ENSP00000285393:P249T	P	+	1	0	ATP6V0D2	87231562	1.000000	0.71417	0.552000	0.28243	0.094000	0.18550	7.743000	0.85020	2.941000	0.99782	0.655000	0.94253	CCT	C|0.999;T|0.001		0.493	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	
DCAF4L2	138009	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	88885067	88885067	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:88885067G>T	ENST00000319675.3	-	1	1229	c.1133C>A	c.(1132-1134)gCa>gAa	p.A378E		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	378										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGCCCTGGTGCTCCTCGGAA	0.567																																					p.A378E		.											.	DCAF4L2-91	0			c.C1133A						.						51.0	57.0	55.0					8																	88885067		2203	4300	6503	SO:0001583	missense	138009	exon1			CCTGGTGCTCCTC	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1133C>A	8.37:g.88885067G>T	ENSP00000316496:p.Ala378Glu	68	0		91	32	NM_152418	0	0	0	0	0		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066107	0.36470	.	.	ENSG00000176566	ENST00000319675	T	0.22945	1.93	1.37	-1.13	0.09775	.	0.491977	0.23060	N	0.052392	T	0.17534	0.0421	L	0.44542	1.39	0.22827	N	0.998683	B	0.33512	0.415	B	0.35114	0.196	T	0.14008	-1.0488	10	0.33940	T	0.23	.	5.7752	0.18275	0.3255:0.0:0.6745:0.0	.	378	Q8NA75	DC4L2_HUMAN	E	378	ENSP00000316496:A378E	ENSP00000316496:A378E	A	-	2	0	DCAF4L2	88954183	1.000000	0.71417	0.043000	0.18650	0.780000	0.44128	3.130000	0.50508	-0.428000	0.07339	0.467000	0.42956	GCA	.		0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
TMEM55A	55529	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	92008967	92008967	+	Nonsense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:92008967G>C	ENST00000285419.3	-	6	859	c.545C>G	c.(544-546)tCa>tGa	p.S182*		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	182						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTACCCACTGAGGAGCTGCA	0.343																																					p.S182X		.											.	TMEM55A-90	0			c.C545G						.						53.0	47.0	49.0					8																	92008967		2203	4299	6502	SO:0001587	stop_gained	55529	exon6			CCCACTGAGGAGC	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.545C>G	8.37:g.92008967G>C	ENSP00000285419:p.Ser182*	161	0		216	97	NM_018710	0	0	0	0	0	B2R9H4|Q68CU2	Nonsense_Mutation	SNP	ENST00000285419.3	37	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	G	38	7.264483	0.98171	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.214	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	X	182;188	.	ENSP00000285419:S182X	S	-	2	0	TMEM55A	92078143	1.000000	0.71417	0.905000	0.35620	0.997000	0.91878	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	TCA	.		0.343	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710	
LRRC69	100130742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	92145519	92145519	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:92145519G>T	ENST00000448384.2	+	4	565	c.565G>T	c.(565-567)Gga>Tga	p.G189*	LRRC69_ENST00000343709.3_Intron	NM_001129890.1	NP_001123362.1	Q6ZNQ3	LRC69_HUMAN	leucine rich repeat containing 69	189										endometrium(1)	1						AAACAACATTGGAGTTTTGCC	0.393																																					p.G189X		.											.	.	0			c.G565T						.						39.0	34.0	36.0					8																	92145519		692	1591	2283	SO:0001587	stop_gained	100130742	exon4			AACATTGGAGTTT	AK130865		8q21.3	2010-07-14			ENSG00000214954	ENSG00000214954			34303	protein-coding gene	gene with protein product							Standard	NM_001129890		Approved		uc010mal.1	Q6ZNQ3	OTTHUMG00000164023	ENST00000448384.2:c.565G>T	8.37:g.92145519G>T	ENSP00000400803:p.Gly189*	49	0		62	28	NM_001129890	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000448384.2	37		.	.	.	.	.	.	.	.	.	.	G	6.321	0.427293	0.11987	.	.	ENSG00000214954	ENST00000448384	.	.	.	5.24	-0.908	0.10517	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-0.0303	5.7628	0.18209	0.3842:0.1313:0.4845:0.0	.	.	.	.	X	189	.	ENSP00000400803:G189X	G	+	1	0	LRRC69	92214695	0.936000	0.31750	0.104000	0.21259	0.034000	0.12701	1.178000	0.31981	-0.013000	0.14199	-0.283000	0.09986	GGA	.		0.393	LRRC69-007	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000415207.1	NM_001129890	
RUNX1T1	862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	92972688	92972688	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:92972688G>T	ENST00000523629.1	-	12	2051	c.1597C>A	c.(1597-1599)Cga>Aga	p.R533R	RUNX1T1_ENST00000422361.2_Silent_p.R496R|RUNX1T1_ENST00000396218.1_Silent_p.R506R|RUNX1T1_ENST00000360348.2_Silent_p.R496R|RUNX1T1_ENST00000436581.2_Silent_p.R544R|RUNX1T1_ENST00000520724.1_Silent_p.R496R|RUNX1T1_ENST00000518844.1_Silent_p.R506R|RUNX1T1_ENST00000265814.3_Silent_p.R533R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	533					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R533R(1)|p.R544R(1)|p.R496R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCACAGTATCGGGCTGTGTTA	0.517																																					p.R592R		.											.	RUNX1T1-1196	3	Substitution - coding silent(3)	lung(3)	c.C1774A						.						74.0	69.0	70.0					8																	92972688		2203	4300	6503	SO:0001819	synonymous_variant	862	exon12			AGTATCGGGCTGT	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1597C>A	8.37:g.92972688G>T		72	0		86	26	NM_001198679	0	0	0	0	0	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																			.		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
RAD54B	25788	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	95403988	95403988	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:95403988G>T	ENST00000336148.5	-	10	1782	c.1658C>A	c.(1657-1659)gCa>gAa	p.A553E		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	553					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AATCTGTAGTGCTCCTGGTCG	0.388								Direct reversal of damage;Homologous recombination																													p.A553E		.											.	RAD54B-539	0			c.C1658A						.						123.0	129.0	127.0					8																	95403988		2203	4300	6503	SO:0001583	missense	25788	exon10			TGTAGTGCTCCTG	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1658C>A	8.37:g.95403988G>T	ENSP00000336606:p.Ala553Glu	106	1		137	31	NM_012415	0	0	0	0	0	F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	4.049	0.006812	0.07866	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.74526	-0.85	4.96	3.09	0.35607	SNF2-related (1);	0.543832	0.20540	N	0.090334	T	0.47507	0.1449	N	0.11284	0.12	0.20403	N	0.999901	B	0.14805	0.011	B	0.14578	0.011	T	0.28522	-1.0041	10	0.07644	T	0.81	8.3183	6.099	0.20037	0.1351:0.0:0.5859:0.2789	.	553	Q9Y620	RA54B_HUMAN	E	553;225	ENSP00000336606:A553E	ENSP00000336606:A553E	A	-	2	0	RAD54B	95473164	0.046000	0.20272	0.482000	0.27366	0.750000	0.42670	2.124000	0.42006	1.177000	0.42855	0.650000	0.86243	GCA	.		0.388	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	
VPS13B	157680	bcgsc.ca	37	8	100549080	100549080	+	Intron	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:100549080G>A	ENST00000358544.2	+	30	4931				VPS13B_ENST00000357162.2_Intron|MIR875_ENST00000401250.1_RNA|VPS13B_ENST00000395996.1_Intron|MIR599_ENST00000385069.1_RNA	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGAGGTATAGTACCACTAAA	0.343																																					.	Colon(161;2205 2542 7338 31318)	.											.	.	0			.						.						21.0	19.0	20.0					8																	100549080		1563	3580	5143	SO:0001627	intron_variant	100126309	.			GGTATAGTACCAC	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4820+15842G>A	8.37:g.100549080G>A		68	0		60	9	.	0	0	0	0	0	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	RNA	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																			.		0.343	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
FBXO43	286151	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	101154328	101154328	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:101154328delC	ENST00000428847.2	-	2	470	c.154delG	c.(154-156)gacfs	p.D52fs		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	52					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GGAGGAGAGTCCGCCCCATTT	0.423																																					p.D52fs		.											.	FBXO43-226	0			c.154delG						.						75.0	79.0	77.0					8																	101154328		1988	4169	6157	SO:0001589	frameshift_variant	286151	exon2			GAGAGTCCGCCCC	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.154delG	8.37:g.101154328delC	ENSP00000403293:p.Asp52fs	56	0		104	35	NM_001029860	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000428847.2	37	CCDS47904.1																																																																																			.		0.423	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918	
PABPC1	26986	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	101725319	101725319	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:101725319T>G	ENST00000318607.5	-	5	1862	c.734A>C	c.(733-735)cAg>cCg	p.Q245P	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.Q213P|PABPC1_ENST00000519004.1_Missense_Mutation_p.Q200P	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	245	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ACTTACTTTCTGTGCATCTTC	0.383																																					p.Q245P		.											.	PABPC1-68	0			c.A734C						.						75.0	67.0	70.0					8																	101725319		2203	4300	6503	SO:0001583	missense	26986	exon5			ACTTTCTGTGCAT	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.734A>C	8.37:g.101725319T>G	ENSP00000313007:p.Gln245Pro	120	2		107	50	NM_002568	0	0	0	0	0	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055363	0.75960	.	.	ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	D;D;T	0.85773	-2.03;-2.03;2.3	4.97	4.97	0.65823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.110508	0.38837	U	0.001553	D	0.92074	0.7488	M	0.88241	2.94	0.80722	D	1	P;D;D	0.58268	0.915;0.982;0.982	P;P;P	0.59012	0.811;0.85;0.85	D	0.93161	0.6558	10	0.54805	T	0.06	.	14.9391	0.70980	0.0:0.0:0.0:1.0	.	213;245;245	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	P	245;245;200;213	ENSP00000313007:Q245P;ENSP00000429594:Q200P;ENSP00000429395:Q213P	ENSP00000313007:Q245P	Q	-	2	0	PABPC1	101794495	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.875000	0.87205	1.992000	0.58205	0.383000	0.25322	CAG	.		0.383	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	
RIMS2	9699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	104948841	104948841	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:104948841C>T	ENST00000436393.2	+	11	2013	c.1772C>T	c.(1771-1773)aCa>aTa	p.T591I	RIMS2_ENST00000262231.10_Missense_Mutation_p.T652I|RIMS2_ENST00000406091.3_Missense_Mutation_p.T813I|RIMS2_ENST00000507740.1_Missense_Mutation_p.T605I			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	875					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGAACCAAACATTCATTTAT	0.358										HNSCC(12;0.0054)																											p.T813I		.											.	RIMS2-279	0			c.C2438T						.						110.0	104.0	106.0					8																	104948841		1844	4079	5923	SO:0001583	missense	9699	exon13			ACCAAACATTCAT	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1772C>T	8.37:g.104948841C>T	ENSP00000390665:p.Thr591Ile	80	0		106	26	NM_001100117	0	0	0	0	0	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.584192	0.86748	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.84647	0.5518	M	0.77616	2.38	0.80722	D	1	D;P;D;P;P;D	0.64830	0.979;0.843;0.994;0.89;0.953;0.993	D;P;D;P;D;D	0.87578	0.958;0.771;0.998;0.808;0.926;0.983	D	0.87120	0.2190	9	0.87932	D	0	.	17.9808	0.89140	0.0:1.0:0.0:0.0	.	875;875;591;652;605;813	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	I	813;828;813;875;605;652;605;605;591	ENSP00000427018:T813I;ENSP00000384892:T813I;ENSP00000425205:T605I;ENSP00000262231:T652I;ENSP00000423559:T605I;ENSP00000386228:T605I;ENSP00000390665:T591I	ENSP00000262231:T652I	T	+	2	0	RIMS2	105018017	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.729000	0.84864	2.309000	0.77851	0.467000	0.42956	ACA	.		0.358	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
RIMS2	9699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	105263996	105263996	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:105263996C>A	ENST00000436393.2	+	28	4293	c.4052C>A	c.(4051-4053)gCt>gAt	p.A1351D	RIMS2_ENST00000339750.2_Missense_Mutation_p.A269D|RIMS2_ENST00000262231.10_Missense_Mutation_p.A1172D|RIMS2_ENST00000406091.3_Missense_Mutation_p.A1333D|RIMS2_ENST00000507740.1_Missense_Mutation_p.A1147D			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1395	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAAGAAGAGCTTCCCAATCA	0.423										HNSCC(12;0.0054)																											p.A1333D		.											.	RIMS2-279	0			c.C3998A						.						134.0	134.0	134.0					8																	105263996		1863	4087	5950	SO:0001583	missense	9699	exon24			GAAGAGCTTCCCA	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.4052C>A	8.37:g.105263996C>A	ENSP00000390665:p.Ala1351Asp	120	0		153	49	NM_001100117	0	0	0	0	0	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.035720	0.75617	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000339750	T;T;T;T;T	0.18657	2.64;2.33;2.33;2.62;2.2	5.64	5.64	0.86602	.	.	.	.	.	T	0.42200	0.1192	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.991;0.997;0.997;0.998	T	0.17349	-1.0372	9	0.06625	T	0.88	.	19.6939	0.96016	0.0:1.0:0.0:0.0	.	1351;1172;1147;1333	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	D	1370;1333;1395;1172;1147;1351;269	ENSP00000384892:A1333D;ENSP00000262231:A1172D;ENSP00000423559:A1147D;ENSP00000390665:A1351D;ENSP00000342051:A269D	ENSP00000262231:A1172D	A	+	2	0	RIMS2	105333172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.809000	0.86057	2.660000	0.90430	0.655000	0.94253	GCT	.		0.423	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
DCSTAMP	81501	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	105361150	105361150	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:105361150G>T	ENST00000297581.2	+	2	419	c.370G>T	c.(370-372)Ggt>Tgt	p.G124C	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.G124C	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	124					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TCTCCTAGATGGTATGACTTG	0.423																																					p.G124C		.											.	.	0			c.G370T						.						75.0	80.0	78.0					8																	105361150		2203	4300	6503	SO:0001583	missense	81501	exon2			CTAGATGGTATGA	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.370G>T	8.37:g.105361150G>T	ENSP00000297581:p.Gly124Cys	152	2		152	65	NM_001257317	0	0	0	0	0	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163661	0.57476	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.32515	1.45	5.84	1.89	0.25635	.	0.122857	0.85682	D	0.000000	T	0.17746	0.0426	L	0.34521	1.04	0.34541	D	0.710326	B	0.06786	0.001	B	0.09377	0.004	T	0.13442	-1.0509	9	.	.	.	-7.9417	4.6726	0.12696	0.6612:0.0:0.1953:0.1436	.	124	Q9H295	TM7S4_HUMAN	C	124	ENSP00000297581:G124C	.	G	+	1	0	TM7SF4	105430326	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	2.624000	0.46444	0.446000	0.26666	-0.290000	0.09829	GGT	.		0.423	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
DPYS	1807	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	105405152	105405152	+	Missense_Mutation	SNP	C	C	T	rs267606773		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:105405152C>T	ENST00000351513.2	-	8	1435	c.1303G>A	c.(1303-1305)Ggg>Agg	p.G435R	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	435			G -> R (in DHPD). {ECO:0000269|PubMed:9718352}.		beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGGGGCACCCCGTGGCAAACC	0.433																																					p.G435R		.											.	DPYS-229	0			c.G1303A	GRCh37	CM980568	DPYS	M		.						106.0	112.0	110.0					8																	105405152		2203	4300	6503	SO:0001583	missense	1807	exon8			GCACCCCGTGGCA	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1303G>A	8.37:g.105405152C>T	ENSP00000276651:p.Gly435Arg	98	0		107	11	NM_001385	0	0	0	0	0		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194575	0.94960	.	.	ENSG00000147647	ENST00000351513	D	0.89270	-2.49	6.02	6.02	0.97574	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96030	0.9016	10	0.87932	D	0	-27.8148	20.547	0.99278	0.0:1.0:0.0:0.0	.	435	Q14117	DPYS_HUMAN	R	435	ENSP00000276651:G435R	ENSP00000276651:G435R	G	-	1	0	DPYS	105474328	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.487000	0.81328	2.850000	0.98022	0.650000	0.86243	GGG	.		0.433	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385	
LRP12	29967	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	105511738	105511738	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:105511738A>C	ENST00000276654.5	-	4	390	c.282T>G	c.(280-282)gaT>gaG	p.D94E	LRP12_ENST00000424843.2_Missense_Mutation_p.D75E	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	94	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAATATCAAAATCCTGAAAAC	0.308																																					p.D94E		.											.	LRP12-90	0			c.T282G						.						68.0	69.0	69.0					8																	105511738		2203	4300	6503	SO:0001583	missense	29967	exon4			ATCAAAATCCTGA	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.282T>G	8.37:g.105511738A>C	ENSP00000276654:p.Asp94Glu	19	0		26	10	NM_013437	0	0	0	0	0	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661676	0.47572	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523830	T;T	0.17691	2.26;2.26	5.81	3.5	0.40072	CUB (5);	0.043092	0.85682	D	0.000000	T	0.11067	0.0270	L	0.28740	0.885	0.80722	D	1	B;B	0.20887	0.04;0.049	B;B	0.23150	0.026;0.044	T	0.12218	-1.0556	10	0.49607	T	0.09	-31.3191	4.1131	0.10068	0.682:0.0:0.1683:0.1497	.	75;94	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	E	75;94;94	ENSP00000399148:D75E;ENSP00000276654:D94E	ENSP00000276654:D94E	D	-	3	2	LRP12	105580914	0.962000	0.33011	1.000000	0.80357	0.964000	0.63967	0.177000	0.16801	1.039000	0.40074	0.455000	0.32223	GAT	.		0.308	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
ZFPM2	23414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	106814687	106814687	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:106814687G>T	ENST00000407775.2	+	8	2627	c.2377G>T	c.(2377-2379)Gga>Tga	p.G793*	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.G524*|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.G661*|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.G661*	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	793					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TATCTTTCCAGGAATTGTCTC	0.433																																					p.G793X		.											.	ZFPM2-139	0			c.G2377T						.						62.0	60.0	61.0					8																	106814687		1896	4133	6029	SO:0001587	stop_gained	23414	exon8			TTTCCAGGAATTG	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2377G>T	8.37:g.106814687G>T	ENSP00000384179:p.Gly793*	231	0		276	76	NM_012082	0	0	0	0	0	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Nonsense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	39	7.647998	0.98409	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	.	.	.	X	793;661;661;524	.	ENSP00000367733:G524X	G	+	1	0	ZFPM2	106883863	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.621000	0.83083	2.708000	0.92522	0.561000	0.74099	GGA	.		0.433	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
PKHD1L1	93035	bcgsc.ca	37	8	110457146	110457146	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:110457146G>C	ENST00000378402.5	+	38	5152	c.5048G>C	c.(5047-5049)gGa>gCa	p.G1683A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1683	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAAGGCTCTGGATTTGCCGTT	0.418										HNSCC(38;0.096)																											p.G1683A		.											.	PKHD1L1-145	0			c.G5048C						.						136.0	133.0	134.0					8																	110457146		1877	4115	5992	SO:0001583	missense	93035	exon38			GCTCTGGATTTGC	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5048G>C	8.37:g.110457146G>C	ENSP00000367655:p.Gly1683Ala	315	4		342	147	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778557	0.90195	.	.	ENSG00000205038	ENST00000378402	T	0.79554	-1.28	6.17	6.17	0.99709	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	L	0.52573	1.65	0.50632	D	0.999887	D	0.89917	1.0	D	0.85130	0.997	D	0.86127	0.1572	10	0.48119	T	0.1	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	1683	Q86WI1	PKHL1_HUMAN	A	1683	ENSP00000367655:G1683A	ENSP00000367655:G1683A	G	+	2	0	PKHD1L1	110526322	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.815000	0.86186	2.941000	0.99782	0.655000	0.94253	GGA	.		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	110464351	110464351	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:110464351A>T	ENST00000378402.5	+	42	6454		c.e42-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTTTTTACAGTGAAAATAT	0.338										HNSCC(38;0.096)																											.		.											.	PKHD1L1-145	0			c.6351-2A>T						.						77.0	71.0	73.0					8																	110464351		1886	4114	6000	SO:0001630	splice_region_variant	93035	exon42			TTTTACAGTGAAA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6351-1A>T	8.37:g.110464351A>T		121	0		126	64	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351908	0.41700	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9409	0.64054	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110533527	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	5.236000	0.65354	2.238000	0.73509	0.477000	0.44152	.	.		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron
PKHD1L1	93035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	110502235	110502235	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:110502235G>T	ENST00000378402.5	+	60	10039	c.9935G>T	c.(9934-9936)aGg>aTg	p.R3312M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3312					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAGGCTTCAGGGATAGCACA	0.308										HNSCC(38;0.096)																											p.R3312M		.											.	PKHD1L1-145	0			c.G9935T						.						94.0	92.0	93.0					8																	110502235		1827	4083	5910	SO:0001583	missense	93035	exon60			GCTTCAGGGATAG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9935G>T	8.37:g.110502235G>T	ENSP00000367655:p.Arg3312Met	181	0		260	71	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704995	0.68615	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.84516	-1.86;-1.86	5.04	5.04	0.67666	Pectin lyase fold/virulence factor (1);	0.153773	0.50627	D	0.000110	T	0.81312	0.4796	L	0.47716	1.5	0.27367	N	0.955805	P	0.36483	0.555	B	0.38296	0.27	T	0.77360	-0.2617	10	0.52906	T	0.07	.	12.0441	0.53469	0.0:0.1742:0.8257:0.0	.	3312	Q86WI1	PKHL1_HUMAN	M	3312;240	ENSP00000367655:R3312M;ENSP00000437376:R240M	ENSP00000367655:R3312M	R	+	2	0	PKHD1L1	110571411	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	2.493000	0.45320	2.503000	0.84419	0.467000	0.42956	AGG	.		0.308	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
CSMD3	114788	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	113237100	113237100	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:113237100G>C	ENST00000297405.5	-	71	11268	c.11024C>G	c.(11023-11025)gCa>gGa	p.A3675G	CSMD3_ENST00000455883.2_Missense_Mutation_p.A3506G|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3605G|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3635G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3675						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCAAAAGCTGCTTGGCCATT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.A3675G		.											.	CSMD3-1132	0			c.C11024G						.						378.0	337.0	351.0					8																	113237100		2203	4300	6503	SO:0001583	missense	114788	exon71			AAAGCTGCTTGGC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11024C>G	8.37:g.113237100G>C	ENSP00000297405:p.Ala3675Gly	258	1		264	82	NM_198123	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508636	0.85282	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.39229	1.43;1.42;1.51;1.09;1.48	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.67069	0.2854	M	0.73962	2.25	0.58432	D	0.999999	D;D;P	0.76494	0.999;0.998;0.925	D;D;P	0.81914	0.995;0.989;0.712	T	0.66139	-0.5998	10	0.51188	T	0.08	.	20.0503	0.97624	0.0:0.0:1.0:0.0	.	3506;3675;3635	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	G	3635;3675;2945;3506;3605	ENSP00000345799:A3635G;ENSP00000297405:A3675G;ENSP00000341558:A2945G;ENSP00000412263:A3506G;ENSP00000343124:A3605G	ENSP00000297405:A3675G	A	-	2	0	CSMD3	113306276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.715000	0.98748	2.736000	0.93811	0.591000	0.81541	GCA	.		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	113516042	113516042	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:113516042G>T	ENST00000297405.5	-	30	5304	c.5060C>A	c.(5059-5061)aCt>aAt	p.T1687N	CSMD3_ENST00000455883.2_Missense_Mutation_p.T1583N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1687N|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1647N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1687	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGAAATCCAGTGTAACTAAC	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.T1687N		.											.	CSMD3-1132	0			c.C5060A						.						138.0	125.0	129.0					8																	113516042		2203	4300	6503	SO:0001583	missense	114788	exon30			AATCCAGTGTAAC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5060C>A	8.37:g.113516042G>T	ENSP00000297405:p.Thr1687Asn	78	0		106	48	NM_198123	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124827	0.56613	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.08	5.08	0.68730	CUB (5);	0.068340	0.56097	D	0.000021	T	0.26955	0.0660	N	0.17901	0.54	0.34254	D	0.679119	D;D;B	0.76494	0.996;0.999;0.017	D;D;B	0.75020	0.931;0.985;0.028	T	0.18085	-1.0348	10	0.21014	T	0.42	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	1583;1687;1647	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	1647;1687;1027;1583;1687	ENSP00000345799:T1647N;ENSP00000297405:T1687N;ENSP00000341558:T1027N;ENSP00000412263:T1583N;ENSP00000343124:T1687N	ENSP00000297405:T1687N	T	-	2	0	CSMD3	113585218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.217000	0.72218	2.629000	0.89072	0.650000	0.86243	ACT	.		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	114111074	114111074	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:114111074C>A	ENST00000297405.5	-	5	1072	c.828G>T	c.(826-828)ggG>ggT	p.G276G	CSMD3_ENST00000455883.2_Silent_p.G276G|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Silent_p.G276G|CSMD3_ENST00000343508.3_Silent_p.G236G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	276	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATTGTGTCCCCAGGCTCTG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.G276G		.											.	CSMD3-1132	0			c.G828T						.						114.0	103.0	107.0					8																	114111074		2203	4300	6503	SO:0001819	synonymous_variant	114788	exon5			TGTGTCCCCAGGC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.828G>T	8.37:g.114111074C>A		139	1		188	59	NM_052900	0	0	0	0	0	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																			.		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	114326847	114326847	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:114326847G>T	ENST00000297405.5	-	2	598	c.354C>A	c.(352-354)taC>taA	p.Y118*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y118*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y118*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y78*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	118	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAATGATAAGTAGTCGTATT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.Y118X		.											.	CSMD3-1132	0			c.C354A						.						139.0	132.0	135.0					8																	114326847		2203	4298	6501	SO:0001587	stop_gained	114788	exon2			TGATAAGTAGTCG	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.354C>A	8.37:g.114326847G>T	ENSP00000297405:p.Tyr118*	110	0		151	61	NM_052900	0	0	0	0	0	Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476674	0.96291	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.72	3.86	0.44501	.	0.099352	0.42548	D	0.000683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7605	0.40530	0.2378:0.0:0.7622:0.0	.	.	.	.	X	78;118;118;118	.	ENSP00000297405:Y118X	Y	-	3	2	CSMD3	114396023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.635000	0.37134	1.352000	0.45808	0.557000	0.71058	TAC	.		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	114449071	114449071	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:114449071G>T	ENST00000297405.5	-	1	257	c.13C>A	c.(13-15)Cgc>Agc	p.R5S	CSMD3_ENST00000455883.2_Missense_Mutation_p.R5S|CSMD3_ENST00000352409.3_Missense_Mutation_p.R5S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCCCTTTGCGGATCCCTTTC	0.537										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R5S		.											.	CSMD3-1132	0			c.C13A						.						81.0	87.0	85.0					8																	114449071		2203	4300	6503	SO:0001583	missense	114788	exon1			CTTTGCGGATCCC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.13C>A	8.37:g.114449071G>T	ENSP00000297405:p.Arg5Ser	59	0	1458	74	24	NM_052900	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102302	0.20632	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.25085	2.25;1.82;2.25	5.66	3.63	0.41609	.	0.612772	0.13567	U	0.378355	T	0.10723	0.0262	N	0.08118	0	0.27973	N	0.936344	B;B;B;B	0.31193	0.017;0.039;0.312;0.01	B;B;B;B	0.28465	0.011;0.017;0.09;0.005	T	0.15954	-1.0419	10	0.24483	T	0.36	.	4.3475	0.11139	0.4223:0.0:0.5777:0.0	.	5;5;5;5	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	S	5	ENSP00000297405:R5S;ENSP00000412263:R5S;ENSP00000343124:R5S	ENSP00000297405:R5S	R	-	1	0	CSMD3	114518247	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.669000	0.54561	1.384000	0.46424	0.655000	0.94253	CGC	.		0.537	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
SLC30A8	169026	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	118183272	118183272	+	Splice_Site	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:118183272G>C	ENST00000456015.2	+	7	829		c.e7-1		SLC30A8_ENST00000519688.1_Splice_Site|SLC30A8_ENST00000521243.1_Splice_Site|SLC30A8_ENST00000427715.2_Splice_Site	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8						cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCTTTTGTCAGGTGTGCCAAA	0.438																																					.	Ovarian(162;1202 1922 6011 16223 52092)	.											.	SLC30A8-229	0			c.683-1G>C						.						128.0	121.0	123.0					8																	118183272		2203	4300	6503	SO:0001630	splice_region_variant	169026	exon9			TTGTCAGGTGTGC		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.830-1G>C	8.37:g.118183272G>C		128	0		172	68	NM_001172811	0	0	0	0	0	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Splice_Site	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601615	0.66445	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9542	0.64137	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A8	118252453	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.945000	0.75947	2.442000	0.82660	0.650000	0.86243	.	.		0.438	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	Intron
MAL2	114569	hgsc.bcm.edu	37	8	120220776	120220776	+	Splice_Site	DEL	G	G	-	rs398009582|rs71302978		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1.0	1.0	1.0	5008	,	,		6681	1.0		1.0	False		,,,				2504	1.0				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1.0	1.0	1.0			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		0	0		25	22	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del
MAL2	114569	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	120252405	120252405	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:120252405G>A	ENST00000276681.6	+	4	406	c.304G>A	c.(304-306)Gat>Aat	p.D102N	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	102	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCTCTTTTAGGATTTTGCCTA	0.313																																					p.D102N		.											.	.	0			c.G304A						.						105.0	97.0	100.0					8																	120252405		1831	4095	5926	SO:0001630	splice_region_variant	114569	exon4			TTTTAGGATTTTG	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.304-1G>A	8.37:g.120252405G>A		18	0		24	8	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Missense_Mutation	SNP	ENST00000276681.6	37																																																																																				.		0.313	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Missense_Mutation
MAL2	114569	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	120252497	120252497	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:120252497T>C	ENST00000276681.6	+	4	498	c.396T>C	c.(394-396)aaT>aaC	p.N132N	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	132	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TGCATTGCAATACAACCATAA	0.403																																					p.N132N		.											.	.	0			c.T396C						.						70.0	70.0	70.0					8																	120252497		1907	4119	6026	SO:0001819	synonymous_variant	114569	exon4			TTGCAATACAACC	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.396T>C	8.37:g.120252497T>C		38	0		57	13	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Silent	SNP	ENST00000276681.6	37																																																																																				.		0.403	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	
COL14A1	7373	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	121215990	121215990	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:121215990C>A	ENST00000297848.3	+	9	1190	c.920C>A	c.(919-921)tCt>tAt	p.S307Y	COL14A1_ENST00000537875.1_Missense_Mutation_p.S307Y|COL14A1_ENST00000247781.3_Missense_Mutation_p.S212Y|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S307Y	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAGATCGCCTCTGAACCAGAC	0.483																																					p.S307Y		.											.	COL14A1-543	0			c.C920A						.						140.0	120.0	127.0					8																	121215990		2203	4300	6503	SO:0001583	missense	7373	exon9			TCGCCTCTGAACC		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.920C>A	8.37:g.121215990C>A	ENSP00000297848:p.Ser307Tyr	123	2		179	62	NM_021110	0	0	0	0	0		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978765	0.74360	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	D;D;D;T;D	0.85955	-1.51;-1.51;-1.51;0.31;-2.05	5.09	5.09	0.68999	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	H	0.95745	3.715	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	D	0.95988	0.8983	10	0.66056	D	0.02	.	18.6722	0.91516	0.0:1.0:0.0:0.0	.	307	Q05707	COEA1_HUMAN	Y	307;307;307;212;120	ENSP00000443974:S307Y;ENSP00000311809:S307Y;ENSP00000297848:S307Y;ENSP00000247781:S212Y;ENSP00000409461:S120Y	ENSP00000247781:S212Y	S	+	2	0	COL14A1	121285171	1.000000	0.71417	0.958000	0.39756	0.442000	0.32017	7.638000	0.83328	2.642000	0.89623	0.561000	0.74099	TCT	.		0.483	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
TMEM65	157378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	125339634	125339634	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:125339634T>A	ENST00000297632.6	-	3	912	c.378A>T	c.(376-378)atA>atT	p.I126I		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	126						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCCAAACCCTATGAAAGGTA	0.289																																					p.I126I		.											.	TMEM65-68	0			c.A378T						.						71.0	61.0	64.0					8																	125339634		2202	4294	6496	SO:0001819	synonymous_variant	157378	exon3			AAACCCTATGAAA	BC032396	CCDS6348.1	8q24.13	2006-11-24			ENSG00000164983	ENSG00000164983			25203	protein-coding gene	gene with protein product						12477932	Standard	NM_194291		Approved		uc010mdl.3	Q6PI78	OTTHUMG00000165021	ENST00000297632.6:c.378A>T	8.37:g.125339634T>A		156	0		190	51	NM_194291	0	0	0	0	0	Q8N5G8|Q8WVK5	Silent	SNP	ENST00000297632.6	37	CCDS6348.1																																																																																			.		0.289	TMEM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381464.1	NM_194291	
POU5F1B	5462	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	128428179	128428179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:128428179delG	ENST00000465342.2	+	2	1225	c.68delG	c.(67-69)tggfs	p.W23fs	CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Frame_Shift_Del_p.W23fs|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	23				WGA -> GGP (in Ref. 5; ADE48566/ ADE48597). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						GATGGGCCATGGGGGGCGGAG	0.706																																					p.W23fs		.											.	.	0			c.68delG						.						2.0	4.0	3.0					8																	128428179		499	1354	1853	SO:0001589	frameshift_variant	5462	exon1			GGCCATGGGGGGC	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.68delG	8.37:g.128428179delG	ENSP00000419298:p.Trp23fs	46	0		61	19	NM_001159542	0	0	0	0	0	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Frame_Shift_Del	DEL	ENST00000465342.2	37	CCDS55274.1																																																																																			.		0.706	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542	
POU5F1B	5462	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	8	128428183	128428183	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:128428183G>T	ENST00000465342.2	+	2	1229	c.72G>T	c.(70-72)ggG>ggT	p.G24G	CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.G24G|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	24				WGA -> GGP (in Ref. 5; ADE48566/ ADE48597). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						GGCCATGGGGGGCGGAGCCGG	0.701																																					p.G24G		.											.	.	0			c.G72T						.						2.0	4.0	3.0					8																	128428183		509	1370	1879	SO:0001819	synonymous_variant	5462	exon1			ATGGGGGGCGGAG	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.72G>T	8.37:g.128428183G>T		49	0		60	20	NM_001159542	0	0	0	0	0	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	37	CCDS55274.1																																																																																			.		0.701	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542	
POU5F1B	5462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	128428187	128428187	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:128428187G>C	ENST00000465342.2	+	2	1233	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.E26Q|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						ATGGGGGGCGGAGCCGGGCTG	0.701																																					p.E26Q		.											.	.	0			c.G76C						.						2.0	4.0	4.0					8																	128428187		538	1401	1939	SO:0001583	missense	5462	exon1			GGGGCGGAGCCGG	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.76G>C	8.37:g.128428187G>C	ENSP00000419298:p.Glu26Gln	52	0		61	23	NM_001159542	0	0	0	0	0	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	ENST00000465342.2	37	CCDS55274.1	.	.	.	.	.	.	.	.	.	.	G	5.181	0.218978	0.09810	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.68025	-0.3;-0.3	1.21	-2.42	0.06542	.	0.151796	0.31020	N	0.008420	T	0.50939	0.1645	L	0.48362	1.52	0.09310	N	1	B	0.11235	0.004	B	0.15870	0.014	T	0.31971	-0.9924	10	0.48119	T	0.1	.	5.8915	0.18915	0.426:0.0:0.574:0.0	.	26	Q06416	P5F1B_HUMAN	Q	26	ENSP00000419298:E26Q;ENSP00000375557:E26Q	ENSP00000375557:E26Q	E	+	1	0	POU5F1B	128497369	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.419000	0.02460	-1.111000	0.02988	-1.490000	0.00973	GAG	.		0.701	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542	
ADCY8	114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	131964240	131964240	+	Missense_Mutation	SNP	C	C	A	rs138524416		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:131964240C>A	ENST00000286355.5	-	3	3207	c.1115G>T	c.(1114-1116)cGg>cTg	p.R372L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R372L|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	372					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 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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGCACGAGCCGCTCCTGGAA	0.547										HNSCC(32;0.087)																											p.R372L		.											.	ADCY8-157	0			c.G1115T						.						89.0	80.0	83.0					8																	131964240		2203	4300	6503	SO:0001583	missense	114	exon3			ACGAGCCGCTCCT	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1115G>T	8.37:g.131964240C>A	ENSP00000286355:p.Arg372Leu	150	0		216	59	NM_001115	0	0	0	0	0		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907641	0.72868	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.81163	-1.46;-1.46	5.22	5.22	0.72569	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.76002	2.32	0.50039	D	0.999842	D;D	0.63880	0.993;0.981	D;P	0.71184	0.972;0.474	D	0.88738	0.3241	10	0.45353	T	0.12	.	18.1219	0.89574	0.0:1.0:0.0:0.0	.	372;372	E7EVL1;P40145	.;ADCY8_HUMAN	L	372	ENSP00000286355:R372L;ENSP00000367161:R372L	ENSP00000286355:R372L	R	-	2	0	ADCY8	132033422	1.000000	0.71417	0.999000	0.59377	0.453000	0.32348	7.772000	0.85439	2.566000	0.86566	0.655000	0.94253	CGG	C|1.000;T|0.000		0.547	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
HHLA1	10086	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	133090001	133090001	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:133090001G>T	ENST00000414222.1	-	11	1142	c.1143C>A	c.(1141-1143)ggC>ggA	p.G381G	HHLA1_ENST00000434736.2_Silent_p.G417G|OC90_ENST00000262283.5_Silent_p.G123G	NM_001145095.1	NP_001138567.1	C9JL84	HHLA1_HUMAN	HERV-H LTR-associating 1	381						extracellular region (GO:0005576)				endometrium(6)|kidney(1)|lung(2)|skin(1)|stomach(2)	12						GGGATGGGCTGCCAGGTGTGG	0.512																																					p.G381G		.											.	.	0			c.C1143A						.						50.0	49.0	49.0					8																	133090001		692	1591	2283	SO:0001819	synonymous_variant	10086	exon11			TGGGCTGCCAGGT	AF110315		8q24	2011-03-01			ENSG00000132297	ENSG00000132297			4904	protein-coding gene	gene with protein product		604109		PLA2L		10329003	Standard	NM_001145095		Approved		uc011liy.1	C9JL84	OTTHUMG00000140390	ENST00000414222.1:c.1143C>A	8.37:g.133090001G>T		96	0		130	60	NM_001145095	0	0	0	0	0		Silent	SNP	ENST00000414222.1	37																																																																																				.		0.512	HHLA1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XR_017860	
KCNQ3	3786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	133187720	133187720	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:133187720C>A	ENST00000388996.4	-	5	1333	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	KCNQ3_ENST00000521134.1_Missense_Mutation_p.D185Y|KCNQ3_ENST00000519445.1_Missense_Mutation_p.D305Y	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	305			D -> G (in BFNS2; reduces the maximal heteromeric current by approx. 40% with no alteration in voltage dependence of activation or deactivation kinetics). {ECO:0000269|PubMed:14534157}.		axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CACAGGGCATCTGCATAGGTC	0.502																																					p.D305Y		.											.	KCNQ3-138	0			c.G913T						.						170.0	150.0	157.0					8																	133187720		2203	4300	6503	SO:0001583	missense	3786	exon5			GGGCATCTGCATA	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.913G>T	8.37:g.133187720C>A	ENSP00000373648:p.Asp305Tyr	166	0		227	108	NM_004519	0	0	0	0	0	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836554	0.91117	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98345	-4.88;-4.88;-4.88	5.51	5.51	0.81932	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99158	0.9709	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99521	1.0958	10	0.87932	D	0	-20.0615	18.7539	0.91825	0.0:1.0:0.0:0.0	.	305;305	E7ET42;O43525	.;KCNQ3_HUMAN	Y	305;185;305;294;184	ENSP00000373648:D305Y;ENSP00000429799:D185Y;ENSP00000428790:D305Y	ENSP00000373648:D305Y	D	-	1	0	KCNQ3	133256902	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	GAT	.		0.502	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
SLA	6503	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	134050829	134050829	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:134050829C>A	ENST00000338087.5	-	9	1590	c.771G>T	c.(769-771)atG>atT	p.M257I	TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.M230I|SLA_ENST00000427060.2_Missense_Mutation_p.M297I|SLA_ENST00000395352.3_Missense_Mutation_p.M274I|SLA_ENST00000524345.1_Missense_Mutation_p.M149I	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	257	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TGCCACCATACATCAGGGAGA	0.468																																					p.M297I		.											.	SLA-279	0			c.G891T						.						256.0	218.0	231.0					8																	134050829		2203	4300	6503	SO:0001583	missense	6503	exon7			ACCATACATCAGG		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.771G>T	8.37:g.134050829C>A	ENSP00000337548:p.Met257Ile	196	2		244	72	NM_006748	0	0	0	0	0	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	2.778	-0.254079	0.05829	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000517648	T;T;T;T;T	0.75154	-0.91;-0.86;-0.85;1.35;2.59	5.92	0.246	0.15516	.	0.869915	0.10817	N	0.630887	T	0.47525	0.1450	N	0.08118	0	0.24754	N	0.992969	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.31503	-0.9941	10	0.02654	T	1	-18.2806	9.3709	0.38252	0.0:0.5072:0.0:0.4928	.	230;257;257;257	B7Z4J2;Q6FI01;Q5TZW1;Q13239	.;.;.;SLAP1_HUMAN	I	257;297;274;149;230	ENSP00000337548:M257I;ENSP00000394049:M297I;ENSP00000378759:M274I;ENSP00000427928:M149I;ENSP00000428559:M230I	ENSP00000337548:M257I	M	-	3	0	SLA	134120011	0.798000	0.28890	0.992000	0.48379	0.764000	0.43329	-0.477000	0.06583	0.084000	0.17077	0.655000	0.94253	ATG	.		0.468	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1		
TG	7038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	134072520	134072520	+	Intron	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:134072520G>C	ENST00000220616.4	+	41	7279				TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000518565.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000427060.2_Silent_p.L2L|SLA_ENST00000338087.5_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000524345.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAGTTTAGAGAGCATCGTGC	0.512																																					p.L2L		.											.	SLA-279	0			c.C6G						.						98.0	98.0	98.0					8																	134072520		692	1591	2283	SO:0001627	intron_variant	6503	exon1			TTTAGAGAGCATC	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7239+30252G>C	8.37:g.134072520G>C		124	0		173	54	NM_006748	0	0	0	0	0	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1																																																																																			.		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
TG	7038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	134145773	134145773	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:134145773C>A	ENST00000220616.4	+	47	8097	c.8057C>A	c.(8056-8058)cCt>cAt	p.P2686H	TG_ENST00000377869.1_Missense_Mutation_p.P2629H|TG_ENST00000542445.1_Missense_Mutation_p.P1056H|TG_ENST00000519543.1_Missense_Mutation_p.P819H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2686					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCCCCTGGCCTGACTTTGTA	0.502																																					p.P2686H		.											.	TG-145	0			c.C8057A						.						134.0	127.0	129.0					8																	134145773		2203	4300	6503	SO:0001583	missense	7038	exon47			CCTGGCCTGACTT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8057C>A	8.37:g.134145773C>A	ENSP00000220616:p.Pro2686His	163	0		169	73	NM_003235	0	0	0	0	0	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284997	0.59867	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.70045	0.09;0.09;0.09;0.09;-0.45	4.84	4.84	0.62591	Carboxylesterase, type B (1);	0.214190	0.33005	N	0.005389	D	0.85630	0.5741	M	0.92459	3.31	0.38584	D	0.950264	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.91635	0.942;0.999;0.992	D	0.90347	0.4363	10	0.87932	D	0	.	15.7848	0.78294	0.0:1.0:0.0:0.0	.	819;1056;2686	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	H	2629;1492;2686;805;1056;819;90	ENSP00000367100:P2629H;ENSP00000220616:P2686H;ENSP00000441693:P1056H;ENSP00000430430:P819H;ENSP00000430161:P90H	ENSP00000220616:P2686H	P	+	2	0	TG	134214955	0.999000	0.42202	1.000000	0.80357	0.575000	0.36095	5.250000	0.65432	2.359000	0.80004	0.561000	0.74099	CCT	.		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
FAM135B	51059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	139158277	139158277	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:139158277G>T	ENST00000395297.1	-	15	3635	c.3465C>A	c.(3463-3465)ctC>ctA	p.L1155L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1155								p.L1155L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCAGCCGGAGGTCTGCAC	0.438										HNSCC(54;0.14)																											p.L1155L		.											.	FAM135B-31	2	Substitution - coding silent(2)	lung(2)	c.C3465A						.						88.0	92.0	91.0					8																	139158277		2203	4300	6503	SO:0001819	synonymous_variant	51059	exon15			CAGCCGGAGGTCT	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3465C>A	8.37:g.139158277G>T		39	0		67	25	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																			.		0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM135B	51059	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	139165292	139165292	+	Missense_Mutation	SNP	C	C	A	rs373153841		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:139165292C>A	ENST00000395297.1	-	13	1596	c.1426G>T	c.(1426-1428)Gtt>Ttt	p.V476F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	476										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACCTTATAACTTCTTCATCA	0.373										HNSCC(54;0.14)																											p.V476F		.											.	FAM135B-31	0			c.G1426T						.	C	PHE/VAL	1,3801		0,1,1900	106.0	101.0	102.0		1426	0.9	0.0	8		102	0,8262		0,0,4131	no	missense	FAM135B	NM_015912.3	50	0,1,6031	AA,AC,CC		0.0,0.0263,0.0083	possibly-damaging	476/1407	139165292	1,12063	1901	4131	6032	SO:0001583	missense	51059	exon13			TTATAACTTCTTC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1426G>T	8.37:g.139165292C>A	ENSP00000378710:p.Val476Phe	138	0		163	33	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337682	0.24253	2.63E-4	0.0	ENSG00000147724	ENST00000395297	T	0.15017	2.46	5.03	0.866	0.19079	.	0.759834	0.12409	N	0.471464	T	0.12475	0.0303	L	0.46157	1.445	0.09310	N	1	P;P;B	0.39782	0.688;0.688;0.047	B;B;B	0.37304	0.246;0.246;0.037	T	0.17531	-1.0366	10	0.37606	T	0.19	-3.0919	3.2347	0.06760	0.1393:0.5669:0.1354:0.1583	.	476;476;476	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	F	476	ENSP00000378710:V476F	ENSP00000276737:V476F	V	-	1	0	FAM135B	139234474	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.111000	0.15458	0.238000	0.21222	0.655000	0.94253	GTT	.		0.373	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM135B	51059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	139190892	139190892	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:139190892C>A	ENST00000395297.1	-	10	1085	c.915G>T	c.(913-915)aaG>aaT	p.K305N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	305										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCCAGATCCTTGCTTATCT	0.517										HNSCC(54;0.14)																											p.K305N		.											.	FAM135B-31	0			c.G915T						.						142.0	140.0	140.0					8																	139190892		2044	4196	6240	SO:0001583	missense	51059	exon10			CAGATCCTTGCTT	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.915G>T	8.37:g.139190892C>A	ENSP00000378710:p.Lys305Asn	204	0		235	58	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815274	0.50527	.	.	ENSG00000147724	ENST00000395297	T	0.79033	-1.23	5.26	1.96	0.26148	.	0.121926	0.53938	D	0.000056	T	0.79551	0.4465	L	0.56769	1.78	0.41422	D	0.987802	D	0.69078	0.997	P	0.60789	0.879	T	0.74702	-0.3576	10	0.23891	T	0.37	-26.0452	7.561	0.27851	0.0:0.6629:0.0:0.3371	.	305	Q49AJ0	F135B_HUMAN	N	305	ENSP00000378710:K305N	ENSP00000276737:K305N	K	-	3	2	FAM135B	139260074	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	0.777000	0.26718	0.710000	0.31997	0.561000	0.74099	AAG	.		0.517	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
COL22A1	169044	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	139712358	139712358	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:139712358C>A	ENST00000303045.6	-	32	3035	c.2589G>T	c.(2587-2589)atG>atT	p.M863I	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.M863I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	863	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TACTTACGGGCATCCGTGGAT	0.557										HNSCC(7;0.00092)																											p.M863I		.											.	COL22A1-103	0			c.G2589T						.						82.0	71.0	75.0					8																	139712358		2203	4300	6503	SO:0001583	missense	169044	exon32			TACGGGCATCCGT	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2589G>T	8.37:g.139712358C>A	ENSP00000303153:p.Met863Ile	103	0		136	47	NM_152888	0	0	0	0	0	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.194019	0.01594	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93488	-3.23;-3.23	4.15	-2.28	0.06826	.	1.221790	0.05882	N	0.626704	D	0.83755	0.5323	N	0.08118	0	0.09310	N	1	B;B	0.17852	0.0;0.024	B;B	0.32980	0.001;0.156	T	0.71583	-0.4549	10	0.31617	T	0.26	.	0.9802	0.01434	0.1558:0.3145:0.1525:0.3771	.	863;863	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	I	863;863;576	ENSP00000303153:M863I;ENSP00000387655:M863I	ENSP00000303153:M863I	M	-	3	0	COL22A1	139781540	0.164000	0.22935	0.005000	0.12908	0.060000	0.15804	-0.589000	0.05767	-0.496000	0.06650	-0.471000	0.05019	ATG	.		0.557	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
COL22A1	169044	hgsc.bcm.edu	37	8	139890282	139890282	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:139890282G>A	ENST00000303045.6	-	3	815	c.369C>T	c.(367-369)taC>taT	p.Y123Y	COL22A1_ENST00000435777.1_Silent_p.Y123Y	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	123	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGCCGTGATGTAGCGGAGCG	0.706										HNSCC(7;0.00092)																											p.Y123Y		.											.	COL22A1-103	0			c.C369T						.						18.0	20.0	20.0					8																	139890282		2176	4246	6422	SO:0001819	synonymous_variant	169044	exon3			CGTGATGTAGCGG	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.369C>T	8.37:g.139890282G>A		5	0		130	15	NM_152888	0	0	0	0	0	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																			.		0.706	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
ARC	23237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	143694448	143694448	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:143694448G>T	ENST00000356613.2	-	1	2385	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CCCTCTACTCGGGCTGGGTCC	0.706																																					p.P395P		.											.	ARC-135	0			c.C1185A						.						5.0	7.0	6.0					8																	143694448		2134	4217	6351	SO:0001819	synonymous_variant	23237	exon1			CTACTCGGGCTGG	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1185C>A	8.37:g.143694448G>T		47	0		143	44	NM_015193	0	0	0	0	0	B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	CCDS34950.1																																																																																			.		0.706	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2		
ARC	23237	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	143694832	143694832	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:143694832G>C	ENST00000356613.2	-	1	2001	c.801C>G	c.(799-801)ttC>ttG	p.F267L	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTCCTTCTTGAACTCCACCC	0.617																																					p.F267L		.											.	ARC-135	0			c.C801G						.						42.0	44.0	44.0					8																	143694832		2203	4299	6502	SO:0001583	missense	23237	exon1			CTTCTTGAACTCC	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.801C>G	8.37:g.143694832G>C	ENSP00000349022:p.Phe267Leu	126	1		169	87	NM_015193	0	0	0	0	0	B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162642	0.78226	.	.	ENSG00000198576	ENST00000356613	.	.	.	4.92	4.04	0.47022	.	0.000000	0.49916	U	0.000128	T	0.49012	0.1532	N	0.19112	0.55	0.40702	D	0.982493	D	0.61697	0.99	P	0.61003	0.882	T	0.38415	-0.9662	9	0.08381	T	0.77	-25.8133	12.6058	0.56523	0.0819:0.0:0.9181:0.0	.	267	Q7LC44	ARC_HUMAN	L	267	.	ENSP00000349022:F267L	F	-	3	2	ARC	143691834	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.735000	0.47377	1.057000	0.40506	0.462000	0.41574	TTC	.		0.617	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2		
THEM6	51337	hgsc.bcm.edu	37	8	143809193	143809193	+	Silent	SNP	C	C	T	rs2257840	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:143809193C>T	ENST00000336138.3	+	1	573	c.429C>T	c.(427-429)ggC>ggT	p.G143G	CTD-2292P10.2_ENST00000519782.1_RNA|CTD-2292P10.4_ENST00000520572.1_RNA	NM_016647.2	NP_057731.1	Q8WUY1	THEM6_HUMAN	thioesterase superfamily member 6	143						extracellular region (GO:0005576)											TGCGGGACGGCTTCGTGTGCG	0.736													C|||	2369	0.473043	0.584	0.4496	5008	,	,		13930	0.4196		0.4722	False		,,,				2504	0.3957				p.G143G		.											.	.	0			c.C429T						.	C		1812,1920		513,786,567	3.0	3.0	3.0		429	2.5	1.0	8	dbSNP_100	3	2967,4315		724,1519,1398	no	coding-synonymous	C8orf55	NM_016647.2		1237,2305,1965	TT,TC,CC		40.7443,48.5531,43.3902		143/209	143809193	4779,6235	1866	3641	5507	SO:0001819	synonymous_variant	51337	exon1			GGACGGCTTCGTG	BC001311	CCDS6386.1	8q24.3	2012-05-03	2012-04-13	2012-04-13	ENSG00000130193	ENSG00000130193			29656	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 55"""	C8orf55		12477932	Standard	XM_005250955		Approved	DSCD75	uc003yww.1	Q8WUY1	OTTHUMG00000164673	ENST00000336138.3:c.429C>T	8.37:g.143809193C>T		0	0		7	7	NM_016647	0	0	0	0	0	B2RDN6|Q8NBN2|Q9NYI2	Silent	SNP	ENST00000336138.3	37	CCDS6386.1																																																																																			C|0.534;T|0.466		0.736	THEM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379706.1	NM_016647	
ZNF696	79943	hgsc.bcm.edu	37	8	144378868	144378868	+	Silent	SNP	A	A	G	rs7386259	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	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		10	8	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	
TIGD5	84948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	144681841	144681841	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144681841G>T	ENST00000504548.2	+	1	1768	c.1768G>T	c.(1768-1770)Gag>Tag	p.E590*	EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|TIGD5_ENST00000321385.3_Nonsense_Mutation_p.E541*|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000317198.6_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000524624.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	590						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GACTGCCGGGGAGGCCGTGCG	0.687																																					p.E590X		.											.	TIGD5-90	0			c.G1768T						.						14.0	17.0	16.0					8																	144681841		2168	4278	6446	SO:0001587	stop_gained	84948	exon1			GCCGGGGAGGCCG	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1768G>T	8.37:g.144681841G>T	ENSP00000421489:p.Glu590*	70	0		166	66	NM_032862	0	0	0	0	0	E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Nonsense_Mutation	SNP	ENST00000504548.2	37	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941083	0.92526	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	.	.	.	4.98	4.98	0.66077	.	0.000000	0.46145	U	0.000317	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	17.2517	0.87044	0.0:0.0:1.0:0.0	.	.	.	.	X	590;541	.	ENSP00000315906:E541X	E	+	1	0	TIGD5	144752984	1.000000	0.71417	0.999000	0.59377	0.251000	0.25915	4.977000	0.63792	2.301000	0.77427	0.655000	0.94253	GAG	.		0.687	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862	
FAM83H	286077	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	144811162	144811162	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144811162C>G	ENST00000388913.3	-	4	837	c.712G>C	c.(712-714)Gcc>Ccc	p.A238P		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	238					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATCACCACGGCACAGTCCACC	0.652																																					p.A238P		.											.	FAM83H-92	0			c.G712C						.						69.0	82.0	78.0					8																	144811162		2117	4219	6336	SO:0001583	missense	286077	exon4			CCACGGCACAGTC	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.712G>C	8.37:g.144811162C>G	ENSP00000373565:p.Ala238Pro	177	2		224	95	NM_198488	0	0	0	0	0	A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	21.7	4.186067	0.78789	.	.	ENSG00000180921	ENST00000388913	T	0.11930	2.73	4.91	4.02	0.46733	.	0.595718	0.15675	N	0.250167	T	0.12220	0.0297	N	0.08118	0	0.27716	N	0.94528	D	0.67145	0.996	P	0.60012	0.867	T	0.13072	-1.0523	10	0.30854	T	0.27	.	5.5862	0.17275	0.0:0.7324:0.0:0.2676	.	238	Q6ZRV2	FA83H_HUMAN	P	238	ENSP00000373565:A238P	ENSP00000373565:A238P	A	-	1	0	FAM83H	144883150	1.000000	0.71417	0.726000	0.30738	0.965000	0.64279	3.082000	0.50128	2.436000	0.82500	0.555000	0.69702	GCC	.		0.652	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	144940543	144940543	+	Silent	SNP	G	G	A	rs369151354		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144940543G>A	ENST00000525985.1	-	2	6950	c.6879C>T	c.(6877-6879)ggC>ggT	p.G2293G				P58107	EPIPL_HUMAN	epiplakin 1	2293						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATCTCGCCGCCCACCACGC	0.706																																					p.G2293G		.											.	EPPK1-25	0			c.C6879T						.	G		0,4344		0,0,2172	84.0	83.0	83.0		6879	1.6	1.0	8		83	1,8501		0,1,4250	no	coding-synonymous	EPPK1	NM_031308.1		0,1,6422	AA,AG,GG		0.0118,0.0,0.0078		2293/2420	144940543	1,12845	2172	4251	6423	SO:0001819	synonymous_variant	83481	exon1			CTCGCCGCCCACC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6879C>T	8.37:g.144940543G>A		27	0		256	25	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				.		0.706	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
EPPK1	83481	hgsc.bcm.edu	37	8	144940615	144940615	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144940615G>A	ENST00000525985.1	-	2	6878	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T				P58107	EPIPL_HUMAN	epiplakin 1	2269						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGAAGCCGGTGGCCGCCT	0.716																																					p.T2269T		.											.	EPPK1-25	0			c.C6807T						.						36.0	36.0	36.0					8																	144940615		2150	4233	6383	SO:0001819	synonymous_variant	83481	exon1			GAAGCCGGTGGCC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6807C>T	8.37:g.144940615G>A		1	0		94	12	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				.		0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	144941957	144941957	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144941957C>A	ENST00000525985.1	-	2	5536	c.5465G>T	c.(5464-5466)gGg>gTg	p.G1822V				P58107	EPIPL_HUMAN	epiplakin 1	1822						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCAGGCCCCCACTCTGGGC	0.537																																					p.G1822V		.											.	EPPK1-25	0			c.G5465T						.						191.0	190.0	190.0					8																	144941957		2002	4169	6171	SO:0001583	missense	83481	exon1			AGGCCCCCACTCT	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5465G>T	8.37:g.144941957C>A	ENSP00000436337:p.Gly1822Val	110	0		160	57	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	10.82	1.459010	0.26248	.	.	ENSG00000227184	ENST00000525985	T	0.61742	0.08	4.86	3.74	0.42951	.	.	.	.	.	T	0.25269	0.0614	N	0.00729	-1.24	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	9	0.31617	T	0.26	.	9.676	0.40041	0.7954:0.2046:0.0:0.0	.	1822	E9PPU0	.	V	1822	ENSP00000436337:G1822V	ENSP00000436337:G1822V	G	-	2	0	EPPK1	145013945	0.454000	0.25728	0.001000	0.08648	0.151000	0.21798	5.346000	0.65992	0.935000	0.37341	0.585000	0.79938	GGG	.		0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
PLEC	5339	broad.mit.edu;bcgsc.ca	37	8	144991067	144991067	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144991067C>G	ENST00000322810.4	-	32	13502	c.13333G>C	c.(13333-13335)Ggg>Cgg	p.G4445R	PLEC_ENST00000398774.2_Missense_Mutation_p.G4276R|PLEC_ENST00000357649.2_Missense_Mutation_p.G4312R|PLEC_ENST00000345136.3_Missense_Mutation_p.G4308R|PLEC_ENST00000356346.3_Missense_Mutation_p.G4294R|PLEC_ENST00000354589.3_Missense_Mutation_p.G4308R|PLEC_ENST00000354958.2_Missense_Mutation_p.G4286R|PLEC_ENST00000527096.1_Missense_Mutation_p.G4331R|PLEC_ENST00000436759.2_Missense_Mutation_p.G4335R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4445	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCCGCTGCCCCGTGATGTTA	0.672																																					p.G4445R		.											.	PLEC-141	0			c.G13333C						.						32.0	38.0	36.0					8																	144991067		2092	4212	6304	SO:0001583	missense	5339	exon32			GCTGCCCCGTGAT	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.13333G>C	8.37:g.144991067C>G	ENSP00000323856:p.Gly4445Arg	51	1		208	101	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	.	.	.	.	.	.	.	.	.	.	C	7.536	0.659705	0.14645	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.25	5.25	0.73442	.	0.000000	0.64402	U	0.000005	D	0.82287	0.5004	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.995;0.998;0.998;0.998;0.998	D	0.83923	0.0302	10	0.87932	D	0	.	18.6388	0.91387	0.0:1.0:0.0:0.0	.	4335;4294;4286;4445;4276;4308;4312;4308	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	R	4308;4312;4308;4276;4445;4286;4294;4335;4331	ENSP00000344848:G4308R;ENSP00000350277:G4312R;ENSP00000346602:G4308R;ENSP00000381756:G4276R;ENSP00000323856:G4445R;ENSP00000347044:G4286R;ENSP00000348702:G4294R;ENSP00000388180:G4335R;ENSP00000434583:G4331R	ENSP00000323856:G4445R	G	-	1	0	PLEC	145063055	1.000000	0.71417	0.629000	0.29254	0.004000	0.04260	7.593000	0.82686	2.726000	0.93360	0.551000	0.68910	GGG	.		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	144991254	144991254	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144991254G>A	ENST00000322810.4	-	32	13315	c.13146C>T	c.(13144-13146)tcC>tcT	p.S4382S	PLEC_ENST00000398774.2_Silent_p.S4213S|PLEC_ENST00000357649.2_Silent_p.S4249S|PLEC_ENST00000345136.3_Silent_p.S4245S|PLEC_ENST00000356346.3_Silent_p.S4231S|PLEC_ENST00000354589.3_Silent_p.S4245S|PLEC_ENST00000354958.2_Silent_p.S4223S|PLEC_ENST00000527096.1_Silent_p.S4268S|PLEC_ENST00000436759.2_Silent_p.S4272S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4382	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGAGGAACGGGAGCGGAAAC	0.682																																					p.S4382S		.											.	PLEC-141	0			c.C13146T						.						50.0	65.0	60.0					8																	144991254		2127	4225	6352	SO:0001819	synonymous_variant	5339	exon32			GGAACGGGAGCGG	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.13146C>T	8.37:g.144991254G>A		207	1		346	125	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			.		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	144998169	144998169	+	Silent	SNP	C	C	T	rs1140522	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144998169C>T	ENST00000322810.4	-	31	6508	c.6339G>A	c.(6337-6339)gcG>gcA	p.A2113A	PLEC_ENST00000398774.2_Silent_p.A1944A|PLEC_ENST00000357649.2_Silent_p.A1980A|PLEC_ENST00000345136.3_Silent_p.A1976A|PLEC_ENST00000356346.3_Silent_p.A1962A|PLEC_ENST00000354589.3_Silent_p.A1976A|PLEC_ENST00000354958.2_Silent_p.A1954A|PLEC_ENST00000527096.1_Silent_p.A1999A|PLEC_ENST00000436759.2_Silent_p.A2003A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2113	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCTCCGCCGCCAGCTGCC	0.741													C|||	1156	0.230831	0.028	0.2968	5008	,	,		12421	0.1429		0.4274	False		,,,				2504	0.3466				p.A2113A		.											.	PLEC-141	0			c.G6339A						.	C	,,,,,,,	297,3657		19,259,1699	5.0	7.0	6.0		6009,5886,5862,6339,5832,5928,5940,5928	-8.9	0.0	8	dbSNP_86	6	2901,4993		551,1799,1597	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	,,,,,,,	570,2058,3296	TT,TC,CC		36.7494,7.5114,26.9919	,,,,,,,	2003/4575,1962/4534,1954/4526,2113/4685,1944/4516,1976/4548,1980/4552,1976/4548	144998169	3198,8650	1977	3947	5924	SO:0001819	synonymous_variant	5339	exon31			CTCCGCCGCCAGC	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.6339G>A	8.37:g.144998169C>T		0	0		14	14	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.740;T|0.260		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	144998190	144998190	+	Silent	SNP	A	A	G	rs2857829	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144998190A>G	ENST00000322810.4	-	31	6487	c.6318T>C	c.(6316-6318)gcT>gcC	p.A2106A	PLEC_ENST00000398774.2_Silent_p.A1937A|PLEC_ENST00000357649.2_Silent_p.A1973A|PLEC_ENST00000345136.3_Silent_p.A1969A|PLEC_ENST00000356346.3_Silent_p.A1955A|PLEC_ENST00000354589.3_Silent_p.A1969A|PLEC_ENST00000354958.2_Silent_p.A1947A|PLEC_ENST00000527096.1_Silent_p.A1992A|PLEC_ENST00000436759.2_Silent_p.A1996A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2106	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGCCTCGCAGCCTCCAGCT	0.746													a|||	1156	0.230831	0.028	0.2968	5008	,	,		12955	0.1429		0.4274	False		,,,				2504	0.3466				p.A2106A		.											.	PLEC-141	0			c.T6318C						.	G	,,,,,,,	343,3813		21,301,1756	7.0	8.0	8.0		5988,5865,5841,6318,5811,5907,5919,5907	-8.1	0.0	8	dbSNP_100	8	3082,5166		620,1842,1662	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	641,2143,3418	GG,GA,AA		37.3666,8.2531,27.6121	,,,,,,,	1996/4575,1955/4534,1947/4526,2106/4685,1937/4516,1969/4548,1973/4552,1969/4548	144998190	3425,8979	2078	4124	6202	SO:0001819	synonymous_variant	5339	exon31			CCTCGCAGCCTCC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6318T>C	8.37:g.144998190A>G		0	0		36	36	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			A|0.738;G|0.262		0.746	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	144999417	144999417	+	Silent	SNP	C	C	T	rs55836855	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:144999417C>T	ENST00000322810.4	-	31	5260	c.5091G>A	c.(5089-5091)gcG>gcA	p.A1697A	PLEC_ENST00000398774.2_Silent_p.A1528A|PLEC_ENST00000357649.2_Silent_p.A1564A|PLEC_ENST00000345136.3_Silent_p.A1560A|PLEC_ENST00000356346.3_Silent_p.A1546A|PLEC_ENST00000354589.3_Silent_p.A1560A|PLEC_ENST00000354958.2_Silent_p.A1538A|PLEC_ENST00000527096.1_Silent_p.A1583A|PLEC_ENST00000436759.2_Silent_p.A1587A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1697	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTACCTGCCGCGCTCGCTCCA	0.741													C|||	1156	0.230831	0.028	0.2954	5008	,	,		8861	0.1429		0.4274	False		,,,				2504	0.3476				p.A1697A		.											.	PLEC-141	0			c.G5091A						.	C	,,,,,,,	258,3112		16,226,1443	6.0	7.0	7.0		4761,4638,4614,5091,4584,4680,4692,4680	-9.4	0.1	8	dbSNP_129	7	2520,4470		444,1632,1419	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	460,1858,2862	TT,TC,CC		36.0515,7.6558,26.8147	,,,,,,,	1587/4575,1546/4534,1538/4526,1697/4685,1528/4516,1560/4548,1564/4552,1560/4548	144999417	2778,7582	1685	3495	5180	SO:0001819	synonymous_variant	5339	exon31			CTGCCGCGCTCGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5091G>A	8.37:g.144999417C>T		1	0		19	19	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																			C|0.731;T|0.269		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
PLEC	5339	hgsc.bcm.edu	37	8	145001784	145001784	+	Silent	SNP	A	A	G	rs3135109	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:145001784A>G	ENST00000322810.4	-	27	4130	c.3961T>C	c.(3961-3963)Ttg>Ctg	p.L1321L	PLEC_ENST00000398774.2_Silent_p.L1152L|PLEC_ENST00000357649.2_Silent_p.L1188L|PLEC_ENST00000345136.3_Silent_p.L1184L|PLEC_ENST00000356346.3_Silent_p.L1170L|PLEC_ENST00000354589.3_Silent_p.L1184L|PLEC_ENST00000354958.2_Silent_p.L1162L|PLEC_ENST00000527096.1_Silent_p.L1207L|PLEC_ENST00000436759.2_Silent_p.L1211L	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		39	39	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	
OPLAH	26873	hgsc.bcm.edu	37	8	145106939	145106940	+	Splice_Site	DEL	CC	CC	-	rs60949781		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:145106939_145106940delCC	ENST00000426825.1	-	26	3580_3581	c.3499_3500delGG	c.(3499-3501)ggc>c	p.G1167fs	CTD-3065J16.6_ENST00000561181.1_RNA|OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1167					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCCCCGAGCCCCCCGCCGCA	0.748														5008	1.0	1.0	1.0	5008	,	,		7120	1.0		1.0	False		,,,				2504	1.0				.		.											.	OPLAH-68	0			.						.			2721,11		1360,1,5						3.7	0.9		dbSNP_130	11	6356,8		3177,2,3	no	frameshift	OPLAH	NM_017570.3		4537,3,8	A1A1,A1R,RR		0.1257,0.4026,0.2089				9077,19				SO:0001630	splice_region_variant	26873	.			CCCGAGCCCCCCG	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3499-1GG>-	8.37:g.145106943_145106944delCC		1	0		11	11	.	0	0	0	0	0	A5PKY8|Q75W65|Q9Y4Q0	Splice_Site	DEL	ENST00000426825.1	37																																																																																				.		0.748	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	Frame_Shift_Del
GPAA1	8733	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	145140943	145140943	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:145140943C>A	ENST00000355091.4	+	12	1902	c.1781C>A	c.(1780-1782)aCc>aAc	p.T594N	GPAA1_ENST00000361036.6_Missense_Mutation_p.T534N	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	594					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGCACCACACCTACGGCGCC	0.647																																					p.T594N		.											.	GPAA1-90	0			c.C1781A						.						43.0	47.0	46.0					8																	145140943		2034	4175	6209	SO:0001583	missense	8733	exon12			ACCACACCTACGG	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1781C>A	8.37:g.145140943C>A	ENSP00000347206:p.Thr594Asn	66	0		98	12	NM_003801	0	0	0	0	0	Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476536	0.44044	.	.	ENSG00000197858	ENST00000355091;ENST00000361036	.	.	.	5.13	1.89	0.25635	.	0.691043	0.14013	N	0.347332	T	0.16257	0.0391	N	0.08118	0	0.26739	N	0.970439	B	0.18610	0.029	B	0.24701	0.055	T	0.29701	-1.0003	9	0.16896	T	0.51	-5.5837	5.3779	0.16176	0.0:0.4953:0.0:0.5047	.	594	O43292	GPAA1_HUMAN	N	594;534	.	ENSP00000347206:T594N	T	+	2	0	GPAA1	145212931	0.970000	0.33590	0.635000	0.29338	0.919000	0.55068	1.437000	0.34991	0.568000	0.29311	0.655000	0.94253	ACC	.		0.647	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801	
MROH1	727957	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	145245734	145245734	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:145245734G>T	ENST00000528919.1	+	7	731	c.610G>T	c.(610-612)Gac>Tac	p.D204Y	MROH1_ENST00000326134.5_Missense_Mutation_p.D204Y|MROH1_ENST00000423230.2_Missense_Mutation_p.D204Y|MROH1_ENST00000398656.4_Missense_Mutation_p.D204Y|MROH1_ENST00000534366.1_Missense_Mutation_p.D204Y	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	204																	AGCCAACCTGGACCGAGCCCC	0.602																																					p.D204Y		.											.	.	0			c.G610T						.						92.0	99.0	97.0					8																	145245734		2084	4209	6293	SO:0001583	missense	727957	exon8			AACCTGGACCGAG		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.610G>T	8.37:g.145245734G>T	ENSP00000435565:p.Asp204Tyr	108	1		169	54	NM_001099280	0	0	0	0	0	C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862425	0.91511	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	T;T;T;T;T	0.65916	-0.11;-0.18;-0.18;-0.18;-0.18	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000002	T	0.81049	0.4742	M	0.80616	2.505	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.951;0.996	D;D;D;P;D	0.91635	0.991;0.999;0.999;0.822;0.937	T	0.82261	-0.0545	10	0.72032	D	0.01	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	204;204;204;204;204	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	Y	204;204;204;204;204;136	ENSP00000388174:D204Y;ENSP00000381649:D204Y;ENSP00000436636:D204Y;ENSP00000435565:D204Y;ENSP00000321737:D204Y	ENSP00000321737:D204Y	D	+	1	0	HEATR7A	145317722	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.432000	0.97498	2.825000	0.97269	0.655000	0.94253	GAC	.		0.602	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450	
TONSL	4796	hgsc.bcm.edu	37	8	145661675	145661675	+	Missense_Mutation	SNP	G	G	A	rs7830832	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:145661675G>A	ENST00000409379.3	-	17	2170	c.2141C>T	c.(2140-2142)gCc>gTc	p.A714V	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	714			A -> V (in dbSNP:rs7830832). {ECO:0000269|PubMed:15489334}.		cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCTGACATGGGCCTGAGAGGC	0.652													G|||	2215	0.442292	0.3192	0.4265	5008	,	,		13977	0.4246		0.4662	False		,,,				2504	0.6135				p.A714V		.											.	TONSL-92	0			c.C2141T						.	G	VAL/ALA	1506,2844		286,934,955	19.0	26.0	24.0		2141	2.8	0.1	8	dbSNP_116	24	3865,4627		955,1955,1336	yes	missense	TONSL	NM_013432.4	64	1241,2889,2291	AA,AG,GG		45.5134,34.6207,41.8237	probably-damaging	714/1379	145661675	5371,7471	2175	4246	6421	SO:0001583	missense	4796	exon17			ACATGGGCCTGAG		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2141C>T	8.37:g.145661675G>A	ENSP00000386239:p.Ala714Val	4	0		11	6	NM_013432	0	0	0	0	0	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	CCDS34968.2	856	0.39194139194139194	153	0.31097560975609756	148	0.4088397790055249	216	0.3776223776223776	339	0.4472295514511873	G	20.8	4.054738	0.75960	0.346207	0.455134	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.48836	0.8	3.73	2.85	0.33270	.	0.748949	0.12251	N	0.485589	T	0.00012	0.0000	L	0.36672	1.1	0.80722	P	0.0	B	0.14805	0.011	B	0.14578	0.011	T	0.45249	-0.9274	9	0.26408	T	0.33	-5.5318	7.1129	0.25401	0.1264:0.0:0.8736:0.0	rs7830832;rs17850384;rs59752457;rs7830832	714	Q96HA7	TONSL_HUMAN	V	714;713	ENSP00000386239:A714V	ENSP00000386239:A714V	A	-	2	0	TONSL	145632483	0.001000	0.12720	0.074000	0.20217	0.742000	0.42306	0.522000	0.22909	0.902000	0.36520	0.462000	0.41574	GCC	G|0.593;A|0.407		0.652	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432	
CYHR1	50626	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	145678757	145678757	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:145678757G>A	ENST00000438911.2	-	3	466	c.333C>T	c.(331-333)ccC>ccT	p.P111P	CYHR1_ENST00000530374.1_Silent_p.P153P	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	111						cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AACGACAATTGGGGCACGTGG	0.572																																					p.P111P		.											.	CYHR1-90	0			c.C333T						.						103.0	94.0	97.0					8																	145678757		692	1591	2283	SO:0001819	synonymous_variant	50626	exon3			ACAATTGGGGCAC	AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"""cysteine and histidine rich 1"""			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.333C>T	8.37:g.145678757G>A		189	2		264	113	NM_138496	0	0	0	0	0	B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Silent	SNP	ENST00000438911.2	37	CCDS47943.1																																																																																			.		0.572	CYHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382438.1	NM_032687	
ZNF517	340385	hgsc.bcm.edu	37	8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	rs2976653	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000525105.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1.0	1.0	5008	,	,		12856	1.0		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3.0	5.0	4.0		1046	-0.8	0.0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	0	0		21	21	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	
KANK1	23189	ucsc.edu;bcgsc.ca	37	9	712593	712593	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:712593T>A	ENST00000382303.1	+	7	2479	c.1827T>A	c.(1825-1827)tcT>tcA	p.S609S	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.S451S|KANK1_ENST00000382297.2_Silent_p.S609S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	609					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGAGGAGTCTGTGAACGACC	0.498																																					p.S609S		.											.	KANK1-517	0			c.T1827A						.						177.0	153.0	161.0					9																	712593		2203	4300	6503	SO:0001819	synonymous_variant	23189	exon7			GGAGTCTGTGAAC	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1827T>A	9.37:g.712593T>A		234	3		181	106	NM_001256876	0	0	0	0	0	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	CCDS34976.1																																																																																			.		0.498	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
DMRT3	58524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	990798	990798	+	Missense_Mutation	SNP	G	G	T	rs148970201		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:990798G>T	ENST00000190165.2	+	2	1250	c.1212G>T	c.(1210-1212)agG>agT	p.R404S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	404					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ATCAGCTGAGGTCCCAGTATG	0.567																																					p.R404S		.											.	DMRT3-516	0			c.G1212T						.						77.0	57.0	64.0					9																	990798		2203	4300	6503	SO:0001583	missense	58524	exon2			GCTGAGGTCCCAG	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1212G>T	9.37:g.990798G>T	ENSP00000190165:p.Arg404Ser	130	0		98	55	NM_021240	0	0	0	0	0	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456849	0.63401	.	.	ENSG00000064218	ENST00000190165	T	0.27402	1.67	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.32530	0.975	0.54753	D	0.99998	D	0.76494	0.999	D	0.78314	0.991	T	0.17410	-1.0370	10	0.44086	T	0.13	-33.2877	12.3912	0.55360	0.0766:0.0:0.9234:0.0	.	404	Q9NQL9	DMRT3_HUMAN	S	404	ENSP00000190165:R404S	ENSP00000190165:R404S	R	+	3	2	DMRT3	980798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.834000	0.39171	2.495000	0.84180	0.655000	0.94253	AGG	G|0.999;A|0.000		0.567	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240	
PTPRD	5789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	8518129	8518129	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:8518129G>T	ENST00000381196.4	-	18	1805	c.1262C>A	c.(1261-1263)cCg>cAg	p.P421Q	PTPRD_ENST00000486161.1_Missense_Mutation_p.P421Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.P411Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.P421Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.P421Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.P411Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.P418Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.P418Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.P408Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.P408Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.P421Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	421	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACATCCCTCGGGGCACTGGA	0.498										TSP Lung(15;0.13)																											p.P421Q		.											.	PTPRD-912	0			c.C1262A						.						165.0	157.0	160.0					9																	8518129		2203	4300	6503	SO:0001583	missense	5789	exon10			TCCCTCGGGGCAC	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1262C>A	9.37:g.8518129G>T	ENSP00000370593:p.Pro421Gln	224	0		138	64	NM_130392	0	0	0	0	0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305714	0.60305	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.31	5.31	0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91240	0.7239	H	0.99011	4.4	0.80722	D	1	D;D;D;D;P;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.823;1.0;1.0;1.0;1.0	D;D;D;D;P;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.682;1.0;1.0;1.0;1.0	D	0.94785	0.7957	9	.	.	.	.	18.9787	0.92747	0.0:0.0:1.0:0.0	.	411;415;421;421;418;418;408;421;421	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	421;421;408;408;421;411;418;418;421;421;421;411	ENSP00000370593:P421Q;ENSP00000348812:P421Q;ENSP00000353187:P408Q;ENSP00000351293:P408Q;ENSP00000347373:P421Q;ENSP00000380741:P411Q;ENSP00000380735:P418Q;ENSP00000440515:P418Q;ENSP00000438164:P421Q;ENSP00000417093:P421Q;ENSP00000380731:P411Q	.	P	-	2	0	PTPRD	8508129	1.000000	0.71417	0.949000	0.38748	0.086000	0.17979	9.807000	0.99171	2.484000	0.83849	0.467000	0.42956	CCG	.		0.498	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
PTPRD	5789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	8636699	8636699	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:8636699C>A	ENST00000381196.4	-	10	753	c.210G>T	c.(208-210)gaG>gaT	p.E70D	PTPRD_ENST00000486161.1_Splice_Site_p.E70D|PTPRD_ENST00000397617.3_Splice_Site_p.E70D|PTPRD_ENST00000540109.1_Splice_Site_p.E70D|PTPRD_ENST00000463477.1_Splice_Site_p.E70D|PTPRD_ENST00000356435.5_Splice_Site_p.E70D|PTPRD_ENST00000397606.3_Splice_Site_p.E70D|PTPRD_ENST00000397611.3_Splice_Site_p.E70D|PTPRD_ENST00000537002.1_Splice_Site_p.E70D|PTPRD_ENST00000360074.4_Splice_Site_p.E70D|PTPRD_ENST00000358503.5_Splice_Site_p.E70D|PTPRD_ENST00000355233.5_Splice_Site_p.E70D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	70	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACCTAATACCTCAAATCTCT	0.433										TSP Lung(15;0.13)																											p.E70D		.											.	PTPRD-912	0			c.G210T						.						147.0	133.0	138.0					9																	8636699		2203	4300	6503	SO:0001630	splice_region_variant	5789	exon2			TAATACCTCAAAT	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.210+1G>T	9.37:g.8636699C>A		213	0		138	88	NM_001040712	0	0	0	0	0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762495	0.89932	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.57	5.57	0.84162	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	L	0.41027	1.25	0.80722	D	1	P;P;D;D;D;B;D;P;P;P	0.63880	0.931;0.792;0.985;0.993;0.993;0.372;0.982;0.465;0.483;0.521	D;P;P;D;D;B;P;B;B;B	0.66351	0.943;0.504;0.885;0.939;0.939;0.12;0.903;0.41;0.217;0.407	T	0.72304	-0.4333	9	.	.	.	.	19.5464	0.95299	0.0:1.0:0.0:0.0	.	70;70;70;70;70;70;70;70;70;70	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	70	ENSP00000370593:E70D;ENSP00000348812:E70D;ENSP00000353187:E70D;ENSP00000351293:E70D;ENSP00000347373:E70D;ENSP00000380741:E70D;ENSP00000380735:E70D;ENSP00000440515:E70D;ENSP00000438164:E70D;ENSP00000417093:E70D;ENSP00000380731:E70D;ENSP00000417661:E70D;ENSP00000417890:E70D	.	E	-	3	2	PTPRD	8626699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.615000	0.88500	0.557000	0.71058	GAG	.		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		Missense_Mutation
FREM1	158326	bcgsc.ca	37	9	14842322	14842322	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:14842322C>G	ENST00000380880.3	-	9	2513	c.1730G>C	c.(1729-1731)gGa>gCa	p.G577A	FREM1_ENST00000380881.4_Missense_Mutation_p.G578A|FREM1_ENST00000422223.2_Missense_Mutation_p.G577A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	577					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCTATCAGTCCTGGCCCTGG	0.463																																					p.G577A		.											.	FREM1-138	0			c.G1730C						.						96.0	94.0	95.0					9																	14842322		1934	4131	6065	SO:0001583	missense	158326	exon10			ATCAGTCCTGGCC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1730G>C	9.37:g.14842322C>G	ENSP00000370262:p.Gly577Ala	102	3		61	27	NM_144966	0	0	0	0	0	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860638	0.32884	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	D;D;D	0.84800	-1.9;-1.9;-1.9	5.93	5.93	0.95920	.	0.365840	0.31450	N	0.007634	T	0.82015	0.4945	M	0.68317	2.08	0.32655	N	0.518813	B	0.24618	0.107	B	0.25987	0.065	T	0.80686	-0.1272	10	0.38643	T	0.18	-7.3775	7.779	0.29054	0.0:0.812:0.0:0.188	.	577	Q5H8C1	FREM1_HUMAN	A	578;577;577	ENSP00000370263:G578A;ENSP00000412940:G577A;ENSP00000370262:G577A	ENSP00000370257:G580A	G	-	2	0	FREM1	14832322	0.993000	0.37304	1.000000	0.80357	0.946000	0.59487	2.903000	0.48711	2.826000	0.97356	0.655000	0.94253	GGA	.		0.463	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
HAUS6	54801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	19063554	19063554	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:19063554T>C	ENST00000380502.3	-	13	1868	c.1401A>G	c.(1399-1401)tcA>tcG	p.S467S	HAUS6_ENST00000380496.1_Silent_p.S331S|SCARNA8_ENST00000515924.1_RNA	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	467					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGATGAAACTGACTGCGACA	0.303																																					p.S467S		.											.	HAUS6-92	0			c.A1401G						.						47.0	46.0	47.0					9																	19063554		2203	4300	6503	SO:0001819	synonymous_variant	54801	exon13			TGAAACTGACTGC	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1401A>G	9.37:g.19063554T>C		234	0		139	77	NM_017645	0	0	0	0	0	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	ENST00000380502.3	37	CCDS6489.1																																																																																			.		0.303	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	
LINGO2	158038	ucsc.edu;bcgsc.ca	37	9	27949236	27949236	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:27949236G>T	ENST00000379992.2	-	6	1883	c.1434C>A	c.(1432-1434)agC>agA	p.S478R	LINGO2_ENST00000308675.3_Missense_Mutation_p.S478R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	478	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATACATCCCGCTGTCTTGAT	0.502																																					p.S478R		.											.	LINGO2-516	0			c.C1434A						.						90.0	84.0	86.0					9																	27949236		2203	4300	6503	SO:0001583	missense	158038	exon7			CATCCCGCTGTCT	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1434C>A	9.37:g.27949236G>T	ENSP00000369328:p.Ser478Arg	108	2		62	34	NM_001258282	0	0	0	0	0	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	4.284	0.051813	0.08291	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.69040	-0.37;-0.37	5.83	-11.7	0.00046	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.140698	0.64402	D	0.000006	T	0.43743	0.1261	N	0.17594	0.5	0.29902	N	0.82433	B	0.22800	0.075	B	0.38655	0.278	T	0.46400	-0.9194	9	.	.	.	.	11.0728	0.48014	0.3054:0.0781:0.5398:0.0766	.	478	Q7L985	LIGO2_HUMAN	R	478	ENSP00000369328:S478R;ENSP00000310126:S478R	.	S	-	3	2	LINGO2	27939236	0.250000	0.23951	0.514000	0.27761	0.697000	0.40408	-0.131000	0.10482	-2.025000	0.00935	-1.728000	0.00702	AGC	.		0.502	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
TMEM8B	51754	bcgsc.ca	37	9	35842566	35842566	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:35842566A>T	ENST00000377991.4	+	7	1146	c.131A>T	c.(130-132)aAc>aTc	p.N44I	TMEM8B_ENST00000439587.2_Missense_Mutation_p.N44I|TMEM8B_ENST00000377996.1_Missense_Mutation_p.N44I|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000377988.2_Missense_Mutation_p.N44I	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	44					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						ACTCTGCGCAACGAGCTGGAC	0.657																																					p.N44I		.											.	TMEM8B-91	0			c.A131T						.						88.0	69.0	75.0					9																	35842566		2203	4300	6503	SO:0001583	missense	51754	exon6			TGCGCAACGAGCT	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.131A>T	9.37:g.35842566A>T	ENSP00000367230:p.Asn44Ile	145	3		110	61	NM_001042590	0	0	0	0	0	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	A	31	5.087931	0.94100	.	.	ENSG00000137103	ENST00000377996;ENST00000439587;ENST00000377991;ENST00000377988	T;T;T;T	0.51325	0.71;0.71;0.75;0.75	5.54	5.54	0.83059	.	0.044963	0.85682	D	0.000000	T	0.61615	0.2361	L	0.44542	1.39	0.54753	D	0.99998	D;D	0.89917	0.998;1.0	D;D	0.87578	0.987;0.998	T	0.64141	-0.6477	10	0.72032	D	0.01	-6.9693	14.8046	0.69942	1.0:0.0:0.0:0.0	.	44;408	A6NDV4;Q5TCW0	TMM8B_HUMAN;.	I	44	ENSP00000367235:N44I;ENSP00000395810:N44I;ENSP00000367230:N44I;ENSP00000367227:N44I	ENSP00000367227:N44I	N	+	2	0	TMEM8B	35832566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.928000	0.92853	2.234000	0.73211	0.460000	0.39030	AAC	.		0.657	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446	
CCIN	881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	36170829	36170829	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:36170829G>T	ENST00000335119.2	+	1	1441	c.1330G>T	c.(1330-1332)Gta>Tta	p.V444L		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	444					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCGGGTCGGGGTAGTGGACTG	0.547																																					p.V444L		.											.	CCIN-92	0			c.G1330T						.						123.0	102.0	109.0					9																	36170829		2203	4300	6503	SO:0001583	missense	881	exon1			GTCGGGGTAGTGG	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1330G>T	9.37:g.36170829G>T	ENSP00000334996:p.Val444Leu	198	0		156	86	NM_005893	0	0	0	0	0	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935314	0.34189	.	.	ENSG00000185972	ENST00000335119	T	0.65916	-0.18	5.73	5.73	0.89815	Kelch-type beta propeller (1);	0.000000	0.49305	D	0.000146	T	0.65417	0.2689	L	0.27053	0.805	0.35369	D	0.788889	P	0.44690	0.841	P	0.58820	0.846	T	0.67738	-0.5593	10	0.27082	T	0.32	.	15.3816	0.74661	0.0:0.0:1.0:0.0	.	444	Q13939	CALI_HUMAN	L	444	ENSP00000334996:V444L	ENSP00000334996:V444L	V	+	1	0	CCIN	36160829	1.000000	0.71417	0.590000	0.28732	0.872000	0.50106	3.885000	0.56182	2.699000	0.92147	0.491000	0.48974	GTA	.		0.547	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893	
SPATA31A6	389730	broad.mit.edu;mdanderson.org	37	9	43626768	43626768	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:43626768T>A	ENST00000332857.6	-	4	1947	c.1919A>T	c.(1918-1920)cAg>cTg	p.Q640L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	640					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CGTGGAGGACTGCCAGGGACT	0.577																																					p.Q640L		.											.	.	0			c.A1919T						.						7.0	6.0	6.0					9																	43626768		452	1099	1551	SO:0001583	missense	389730	exon4			GAGGACTGCCAGG		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1919A>T	9.37:g.43626768T>A	ENSP00000329825:p.Gln640Leu	24	0		27	15	NM_001145196	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	8.421	0.846436	0.16963	.	.	ENSG00000185775	ENST00000332857	T	0.07688	3.17	2.44	-3.13	0.05266	.	1.854440	0.02688	N	0.110295	T	0.09291	0.0229	L	0.52126	1.63	0.09310	N	1	P	0.37276	0.589	B	0.40009	0.316	T	0.34976	-0.9807	10	0.10636	T	0.68	4.3693	7.2469	0.26127	0.0:0.5813:0.0:0.4187	.	640	Q5VVP1	F75A6_HUMAN	L	640	ENSP00000329825:Q640L	ENSP00000329825:Q640L	Q	-	2	0	FAM75A6	43566764	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.259000	0.01178	-0.712000	0.04988	-0.585000	0.04130	CAG	.		0.577	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196	
SPATA31A6	389730	broad.mit.edu;ucsc.edu;mdanderson.org	37	9	43627064	43627064	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:43627064C>A	ENST00000332857.6	-	4	1651	c.1623G>T	c.(1621-1623)tgG>tgT	p.W541C	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	541					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCAACAAAGGCCATTCAGGGT	0.488																																					p.W541C		.											.	.	0			c.G1623T						.						6.0	6.0	6.0					9																	43627064		594	1504	2098	SO:0001583	missense	389730	exon4			CAAAGGCCATTCA		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1623G>T	9.37:g.43627064C>A	ENSP00000329825:p.Trp541Cys	22	0		16	10	NM_001145196	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	1.097	-0.662309	0.03454	.	.	ENSG00000185775	ENST00000332857	T	0.07327	3.2	2.35	-2.54	0.06307	.	0.740503	0.12169	N	0.493176	T	0.05318	0.0141	L	0.31420	0.93	0.09310	N	1	B	0.20459	0.045	B	0.27796	0.083	T	0.39742	-0.9599	10	0.39692	T	0.17	-0.0666	2.5646	0.04780	0.389:0.3456:0.0:0.2654	.	541	Q5VVP1	F75A6_HUMAN	C	541	ENSP00000329825:W541C	ENSP00000329825:W541C	W	-	3	0	FAM75A6	43567060	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.828000	0.04419	-0.601000	0.05783	-0.932000	0.02703	TGG	.		0.488	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196	
CNTNAP3B	728577	bcgsc.ca	37	9	43815873	43815873	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:43815873T>C	ENST00000377564.3	+	5	1020	c.627T>C	c.(625-627)tcT>tcC	p.S209S	CNTNAP3B_ENST00000276974.6_Silent_p.S209S	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	209	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						ATGTTATTTCTTTGAAATTTA	0.338																																					p.S209S		.											.	.	0			c.T627C						.																																			SO:0001819	synonymous_variant	728577	exon5			TATTTCTTTGAAA	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.627T>C	9.37:g.43815873T>C		389	0		430	98	NM_001201380	0	0	0	0	0	B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Silent	SNP	ENST00000377564.3	37	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	T	7.563	0.665094	0.14710	.	.	ENSG00000154529	ENST00000377561	.	.	.	2.77	2.77	0.32553	.	.	.	.	.	T	0.59487	0.2197	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56667	-0.7941	4	.	.	.	.	10.0867	0.42423	0.0:0.0:0.0:1.0	.	.	.	.	P	258	.	.	L	+	2	0	CNTNAP3B	43755869	1.000000	0.71417	0.993000	0.49108	0.861000	0.49209	1.672000	0.37523	1.289000	0.44618	0.338000	0.21704	CTT	.		0.338	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3		
CNTNAP3B	728577	bcgsc.ca	37	9	43822703	43822703	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:43822703C>A	ENST00000377564.3	+	8	1650	c.1257C>A	c.(1255-1257)ttC>ttA	p.F419L		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	419	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CAGGGAGTTTCGTCCTCTTTC	0.478																																					p.F419L		.											.	.	0			c.C1257A						.																																			SO:0001583	missense	728577	exon8			GAGTTTCGTCCTC	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1257C>A	9.37:g.43822703C>A	ENSP00000366787:p.Phe419Leu	440	0		494	89	NM_001201380	0	0	0	0	0	B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	CCDS55312.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.589|0.589	-0.833733|-0.833733	0.02713|0.02713	.|.	.|.	ENSG00000154529|ENSG00000154529	ENST00000377564;ENST00000341990;ENST00000403166|ENST00000377561	T|.	0.74209|.	-0.82|.	2.83|2.83	-3.89|-3.89	0.04193|0.04193	.|.	.|.	.|.	.|.	.|.	T|.	0.06917|.	0.0176|.	N|N	0.00661|0.00661	-1.28|-1.28	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38672|.	-0.9650|.	7|.	0.02654|.	T|.	1|.	.|.	5.6403|5.6403	0.17561|0.17561	0.0:0.494:0.1677:0.3383|0.0:0.494:0.1677:0.3383	.|.	.|.	.|.	.|.	L|X	419|468	ENSP00000366787:F419L|.	ENSP00000340890:F419L|.	F|S	+|+	3|2	2|0	CNTNAP3B|CNTNAP3B	43762699|43762699	0.465000|0.465000	0.25815|0.25815	0.002000|0.002000	0.10522|0.10522	0.324000|0.324000	0.28378|0.28378	0.658000|0.658000	0.24979|0.24979	-0.492000|-0.492000	0.06687|0.06687	-0.465000|-0.465000	0.05216|0.05216	TTC|TCG	.		0.478	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3		
SPATA31A7	26165	broad.mit.edu;bcgsc.ca	37	9	65507526	65507526	+	Missense_Mutation	SNP	G	G	T	rs201014618	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:65507526G>T	ENST00000355045.2	-	3	317	c.289C>A	c.(289-291)Ctg>Atg	p.L97M	SPATA31A7_ENST00000491812.2_5'UTR	NM_015667.2	NP_056482.2	Q8IWB4	S31A7_HUMAN	SPATA31 subfamily A, member 7	97					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGTGAAAGCAGGTCCGAAGTC	0.627																																					p.L97M		.											.	.	0			c.C289A						.						23.0	26.0	25.0					9																	65507526		980	2421	3401	SO:0001583	missense	727905	exon3			AAAGCAGGTCCGA		CCDS75838.1	9q12	2014-04-11	2012-10-12	2012-10-12	ENSG00000234734	ENSG00000276040			32007	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A7"""	FAM75A7		20850414	Standard	NM_015667		Approved	OTTHUMG00000013196		Q8IWB4	OTTHUMG00000188536	ENST00000355045.2:c.289C>A	9.37:g.65507526G>T	ENSP00000347153:p.Leu97Met	1209	2		1455	326	NM_001113541	0	0	0	0	0	Q5TZK4|Q9Y4Q5	Missense_Mutation	SNP	ENST00000355045.2	37	CCDS43825.1	.	.	.	.	.	.	.	.	.	.	G	8.580	0.882007	0.17467	.	.	ENSG00000234734	ENST00000355045	T	0.07216	3.21	1.58	-1.67	0.08238	.	0.577179	0.13305	N	0.397979	T	0.20251	0.0487	M	0.71036	2.16	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.06110	-1.0845	10	0.66056	D	0.02	.	5.08	0.14651	0.5955:0.0:0.4045:0.0	.	97	Q8IWB4	F75A7_HUMAN	M	97	ENSP00000347153:L97M	ENSP00000347153:L97M	L	-	1	2	FAM75A7	65247346	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-0.549000	0.06041	-0.562000	0.06086	0.162000	0.16502	CTG	G|0.998;C|0.002		0.627	SPATA31A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036952.1	NM_015667	
KLF9	687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	73027994	73027994	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:73027994C>G	ENST00000377126.2	-	1	1546	c.286G>C	c.(286-288)Gac>Cac	p.D96H		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	96	Asp/Glu-rich (acidic).				cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						ACGTCGCTGTCGGATCCCATA	0.617																																					p.D96H		.											.	KLF9-90	0			c.G286C						.						146.0	122.0	130.0					9																	73027994		2203	4300	6503	SO:0001583	missense	687	exon1			CGCTGTCGGATCC	BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	1123	protein-coding gene	gene with protein product		602902	"""basic transcription element binding protein 1"""	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.286G>C	9.37:g.73027994C>G	ENSP00000366330:p.Asp96His	205	0		230	39	NM_001206	0	0	0	0	0	B2R943|Q16196	Missense_Mutation	SNP	ENST00000377126.2	37	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745113	0.69418	.	.	ENSG00000119138	ENST00000377126	T	0.05258	3.47	4.85	4.85	0.62838	.	0.086469	0.47093	D	0.000251	T	0.04407	0.0121	N	0.02011	-0.69	0.53005	D	0.999969	D	0.60160	0.987	P	0.49922	0.626	T	0.61549	-0.7040	10	0.13470	T	0.59	.	16.7593	0.85507	0.0:1.0:0.0:0.0	.	96	Q13886	KLF9_HUMAN	H	96	ENSP00000366330:D96H	ENSP00000366330:D96H	D	-	1	0	KLF9	72217814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.947000	0.49058	2.250000	0.74265	0.557000	0.71058	GAC	.		0.617	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206	
TMEM2	23670	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	74349872	74349872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:74349872C>A	ENST00000377044.4	-	6	1782	c.1243G>T	c.(1243-1245)Gga>Tga	p.G415*	TMEM2_ENST00000377066.5_Intron	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	415					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGCTTCACTCCATCTACAACC	0.378																																					p.G415X		.											.	TMEM2-92	0			c.G1243T						.						181.0	170.0	174.0					9																	74349872		2203	4300	6503	SO:0001587	stop_gained	23670	exon6			TCACTCCATCTAC		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1243G>T	9.37:g.74349872C>A	ENSP00000366243:p.Gly415*	55	0		76	20	NM_013390	0	0	0	0	0	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Nonsense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	43	10.256191	0.99369	.	.	ENSG00000135048	ENST00000377044	.	.	.	6.08	6.08	0.98989	.	0.153579	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	415	.	ENSP00000366243:G415X	G	-	1	0	TMEM2	73539692	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.532000	0.60608	2.894000	0.99253	0.655000	0.94253	GGA	.		0.378	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
GDA	9615	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	74810477	74810477	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:74810477C>A	ENST00000358399.3	+	2	278	c.185C>A	c.(184-186)cCg>cAg	p.P62Q	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.P62Q|GDA_ENST00000545168.1_De_novo_Start_OutOfFrame|GDA_ENST00000376989.3_Missense_Mutation_p.P37Q|GDA_ENST00000376986.1_Missense_Mutation_p.P20Q	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	62					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGCTTCAAGCCGTGTGAAATA	0.358																																					p.P62Q		.											.	GDA-230	0			c.C185A						.						72.0	70.0	71.0					9																	74810477		2203	4300	6503	SO:0001583	missense	9615	exon2			TCAAGCCGTGTGA	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.185C>A	9.37:g.74810477C>A	ENSP00000351170:p.Pro62Gln	35	0		48	14	NM_004293	0	0	0	0	0	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405065	0.42613	.	.	ENSG00000119125	ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	.	.	.	5.22	5.22	0.72569	.	0.363661	0.31834	N	0.006984	T	0.51770	0.1694	N	0.22421	0.69	0.80722	D	1	B;B;B	0.25609	0.13;0.026;0.003	B;B;B	0.30105	0.111;0.016;0.003	T	0.48043	-0.9069	9	0.33940	T	0.23	-5.561	16.9899	0.86351	0.0:1.0:0.0:0.0	.	20;62;62	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	Q	62;37;20;62	.	ENSP00000238018:P62Q	P	+	2	0	GDA	74000297	0.631000	0.27164	0.910000	0.35882	0.963000	0.63663	2.307000	0.43682	2.443000	0.82685	0.585000	0.79938	CCG	.		0.358	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1		
RORB	6096	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	77249546	77249546	+	Splice_Site	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:77249546delG	ENST00000396204.2	+	3	126		c.e3-1		RORB_ENST00000376896.3_Splice_Site			Q92753	RORB_HUMAN	RAR-related orphan receptor B						amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TTTCCCTCAAGGGATTCTTTA	0.408																																					.		.											.	RORB-229	0			c.94-1G>-						.						34.0	33.0	34.0					9																	77249546		2202	4300	6502	SO:0001630	splice_region_variant	6096	exon3			CCTCAAGGGATTC	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.127-1G>-	9.37:g.77249546delG		45	0		45	15	NM_006914	0	0	0	0	0	Q8WX73	Splice_Site	DEL	ENST00000396204.2	37																																																																																				.		0.408	RORB-201	KNOWN	basic	protein_coding	protein_coding			Intron
TRPM6	140803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	77423024	77423024	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:77423024C>A	ENST00000360774.1	-	14	1801	c.1564G>T	c.(1564-1566)Ggt>Tgt	p.G522C	TRPM6_ENST00000361255.3_Missense_Mutation_p.G517C|TRPM6_ENST00000449912.2_Missense_Mutation_p.G517C|TRPM6_ENST00000451710.3_Missense_Mutation_p.G522C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.G522C|TRPM6_ENST00000376872.3_Missense_Mutation_p.G522C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	522					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TATGCTCTACCAATGAGGTAT	0.383																																					p.G522C		.											.	TRPM6-335	0			c.G1564T						.						224.0	215.0	218.0					9																	77423024		2203	4300	6503	SO:0001583	missense	140803	exon14			CTCTACCAATGAG	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1564G>T	9.37:g.77423024C>A	ENSP00000354006:p.Gly522Cys	139	0		155	46	NM_017662	0	0	0	0	0	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974159	0.92919	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.04;-0.78;-0.78;-0.78	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.983	D	0.91769	0.5426	10	0.87932	D	0	.	19.9279	0.97110	0.0:1.0:0.0:0.0	.	522;522;517	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	C	522;522;522;517;517;522;185;185	ENSP00000354006:G522C;ENSP00000407341:G522C;ENSP00000366068:G522C;ENSP00000396672:G517C;ENSP00000354962:G517C;ENSP00000366060:G522C	ENSP00000309693:G185C	G	-	1	0	TRPM6	76612844	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.715000	0.92844	0.655000	0.94253	GGT	.		0.383	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
TRPM6	140803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	77431651	77431651	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:77431651C>A	ENST00000360774.1	-	11	1479	c.1242G>T	c.(1240-1242)ctG>ctT	p.L414L	TRPM6_ENST00000361255.3_Silent_p.L409L|TRPM6_ENST00000449912.2_Silent_p.L409L|TRPM6_ENST00000451710.3_Silent_p.L414L|TRPM6_ENST00000376871.3_Silent_p.L414L|TRPM6_ENST00000376864.4_Silent_p.L414L|TRPM6_ENST00000376872.3_Silent_p.L414L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	414					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGCCATTGCCAGATTTAATT	0.358																																					p.L414L		.											.	TRPM6-335	0			c.G1242T						.						113.0	112.0	112.0					9																	77431651		2203	4300	6503	SO:0001819	synonymous_variant	140803	exon11			CATTGCCAGATTT	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1242G>T	9.37:g.77431651C>A		45	0		50	14	NM_017662	0	0	0	0	0	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																			.		0.358	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
PRUNE2	158471	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	79320603	79320603	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:79320603T>A	ENST00000376718.3	-	8	6710	c.6587A>T	c.(6586-6588)aAc>aTc	p.N2196I	PRUNE2_ENST00000428286.1_Missense_Mutation_p.N1837I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2196					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTGTCACCGTTTATTTCAGA	0.458																																					p.N2196I		.											.	PRUNE2-157	0			c.A6587T						.						120.0	113.0	115.0					9																	79320603		1568	3582	5150	SO:0001583	missense	158471	exon8			TCACCGTTTATTT	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6587A>T	9.37:g.79320603T>A	ENSP00000365908:p.Asn2196Ile	141	0		155	56	NM_015225	0	0	0	0	0	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.995|9.995	1.231937|1.231937	0.22626|0.22626	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.46451	.|0.87;0.87	5.57|5.57	-3.38|-3.38	0.04883|0.04883	.|.	.|1.323940	.|0.04851	.|N	.|0.442329	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|B	.|0.18863	.|0.031	.|B	.|0.14023	.|0.01	T|T	0.47086|0.47086	-0.9144|-0.9144	5|10	.|0.56958	.|D	.|0.05	-0.2142|-0.2142	7.2899|7.2899	0.26360|0.26360	0.1236:0.4812:0.0:0.3952|0.1236:0.4812:0.0:0.3952	.|.	.|2196	.|Q8WUY3	.|PRUN2_HUMAN	N|I	1517|2196;1837;2195	.|ENSP00000365908:N2196I;ENSP00000397425:N1837I	.|ENSP00000365908:N2196I	K|N	-|-	3|2	2|0	PRUNE2|PRUNE2	78510423|78510423	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.137000|0.137000	0.21094|0.21094	-0.824000|-0.824000	0.04438|0.04438	-0.143000|-0.143000	0.11334|0.11334	0.533000|0.533000	0.62120|0.62120	AAA|AAC	.		0.458	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
TLE4	7091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	82321726	82321726	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:82321726G>T	ENST00000376552.2	+	11	1866	c.848G>T	c.(847-849)cGc>cTc	p.R283L	TLE4_ENST00000265284.6_Missense_Mutation_p.R258L|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Missense_Mutation_p.R283L|TLE4_ENST00000376520.4_Missense_Mutation_p.R283L|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	283					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GACAAGACACGCCTGCTCAAG	0.517																																					p.R283L		.											.	TLE4-524	0			c.G848T						.						177.0	173.0	174.0					9																	82321726		1926	4117	6043	SO:0001583	missense	7091	exon11			AGACACGCCTGCT	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.848G>T	9.37:g.82321726G>T	ENSP00000365735:p.Arg283Leu	108	0		90	30	NM_007005	0	0	0	0	0	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.971497|4.971497	0.92919|0.92919	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000417836|ENST00000376552;ENST00000376520;ENST00000376537;ENST00000265284	.|T;T;T;T	.|0.47869	.|0.83;0.9;0.9;0.94	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46658|0.46658	0.1404|0.1404	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	.|B;B;P	.|0.38745	.|0.018;0.252;0.645	.|B;B;B	.|0.40329	.|0.021;0.229;0.326	T|T	0.26087|0.26087	-1.0113|-1.0113	5|10	.|0.33940	.|T	.|0.23	-21.1636|-21.1636	20.2885|20.2885	0.98538|0.98538	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|258;283;283	.|F8W6T6;Q04727-3;Q04727	.|.;.;TLE4_HUMAN	S|L	16|283;283;283;258	.|ENSP00000365735:R283L;ENSP00000365703:R283L;ENSP00000365720:R283L;ENSP00000265284:R258L	.|ENSP00000265284:R258L	A|R	+|+	1|2	0|0	TLE4|TLE4	81511546|81511546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.863000|7.863000	0.87023|0.87023	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	GCC|CGC	.		0.517	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
SPATA31D1	389763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	84607383	84607383	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:84607383C>A	ENST00000344803.2	+	4	2045	c.1998C>A	c.(1996-1998)gtC>gtA	p.V666V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	666					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTTCAAGGTCCATGTTCCGA	0.478																																					p.V666V		.											.	.	0			c.C1998A						.						111.0	108.0	109.0					9																	84607383		1872	4108	5980	SO:0001819	synonymous_variant	389763	exon4			CAAGGTCCATGTT		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1998C>A	9.37:g.84607383C>A		201	0		227	78	NM_001001670	0	0	0	0	0		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																			.		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
SPATA31D1	389763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	84607770	84607770	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:84607770G>T	ENST00000344803.2	+	4	2432	c.2385G>T	c.(2383-2385)aaG>aaT	p.K795N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	795					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCAGACAAGGATCTGAGGT	0.458																																					p.K795N		.											.	.	0			c.G2385T						.						103.0	99.0	100.0					9																	84607770		1909	4112	6021	SO:0001583	missense	389763	exon4			AGACAAGGATCTG		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2385G>T	9.37:g.84607770G>T	ENSP00000341988:p.Lys795Asn	505	0		571	178	NM_001001670	0	0	0	0	0		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.480218	0.01027	.	.	ENSG00000214929	ENST00000344803	T	0.06142	3.34	2.85	-4.69	0.03299	.	2.038600	0.01881	N	0.037848	T	0.04497	0.0123	N	0.21097	0.63	0.09310	N	1	B	0.33299	0.407	B	0.37550	0.253	T	0.26608	-1.0098	10	0.20519	T	0.43	0.3867	2.191	0.03899	0.1147:0.1459:0.2224:0.517	.	795	Q6ZQQ2	F75D1_HUMAN	N	795	ENSP00000341988:K795N	ENSP00000341988:K795N	K	+	3	2	FAM75D1	83797590	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.149000	0.10204	-1.043000	0.03258	0.462000	0.41574	AAG	.		0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
SPATA31D1	389763	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	84608003	84608003	+	Missense_Mutation	SNP	A	A	T	rs375918710		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:84608003A>T	ENST00000344803.2	+	4	2665	c.2618A>T	c.(2617-2619)cAt>cTt	p.H873L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	873					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAATTAAACATCGAAATCTG	0.443																																					p.H873L		.											.	.	0			c.A2618T						.						107.0	93.0	97.0					9																	84608003		1889	4132	6021	SO:0001583	missense	389763	exon4			TTAAACATCGAAA		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2618A>T	9.37:g.84608003A>T	ENSP00000341988:p.His873Leu	541	2		553	150	NM_001001670	0	0	0	0	0		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	7.892	0.732426	0.15507	.	.	ENSG00000214929	ENST00000344803	T	0.42131	0.98	2.86	-1.07	0.09968	.	4.374490	0.00397	N	0.000049	T	0.37265	0.0997	L	0.36672	1.1	0.09310	N	1	B	0.28713	0.22	B	0.39840	0.311	T	0.15178	-1.0446	10	0.25106	T	0.35	3.6326	2.9791	0.05947	0.4854:0.2353:0.2793:0.0	.	873	Q6ZQQ2	F75D1_HUMAN	L	873	ENSP00000341988:H873L	ENSP00000341988:H873L	H	+	2	0	FAM75D1	83797823	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.946000	0.29069	-0.202000	0.10268	-0.322000	0.08575	CAT	.		0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
SPATA31D1	389763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	84608098	84608098	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:84608098G>T	ENST00000344803.2	+	4	2760	c.2713G>T	c.(2713-2715)Gcc>Tcc	p.A905S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	905					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GATGTTGGAAGCCCATATTAA	0.433																																					p.A905S		.											.	.	0			c.G2713T						.						55.0	51.0	52.0					9																	84608098		1843	4082	5925	SO:0001583	missense	389763	exon4			TTGGAAGCCCATA		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2713G>T	9.37:g.84608098G>T	ENSP00000341988:p.Ala905Ser	172	0		160	65	NM_001001670	0	0	0	0	0		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021571	0.19433	.	.	ENSG00000214929	ENST00000344803	T	0.46451	0.87	3.45	-2.95	0.05564	.	3.059830	0.00945	N	0.002884	T	0.48502	0.1503	M	0.79926	2.475	0.09310	N	1	P	0.40180	0.705	P	0.49140	0.601	T	0.38265	-0.9669	10	0.15952	T	0.53	-0.224	0.2861	0.00251	0.2294:0.1673:0.2639:0.3394	.	905	Q6ZQQ2	F75D1_HUMAN	S	905	ENSP00000341988:A905S	ENSP00000341988:A905S	A	+	1	0	FAM75D1	83797918	0.472000	0.25870	0.000000	0.03702	0.004000	0.04260	-0.080000	0.11339	-0.329000	0.08527	0.650000	0.86243	GCC	.		0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
AGTPBP1	23287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	88162051	88162051	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:88162051A>T	ENST00000357081.3	-	26	3798	c.3654T>A	c.(3652-3654)tcT>tcA	p.S1218S	AGTPBP1_ENST00000432218.1_3'UTR|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.S1178S|AGTPBP1_ENST00000376109.3_Silent_p.S1230S			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1218					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTGATAATTCAGAGTCAGAAA	0.368																																					p.S1178S		.											.	AGTPBP1-158	0			c.T3534A						.						136.0	127.0	130.0					9																	88162051		2203	4300	6503	SO:0001819	synonymous_variant	23287	exon26			TAATTCAGAGTCA	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3654T>A	9.37:g.88162051A>T		141	0		130	45	NM_015239	0	0	0	0	0	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37																																																																																				.		0.368	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
DAPK1	1612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	90318057	90318057	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:90318057G>T	ENST00000408954.3	+	25	3320	c.2985G>T	c.(2983-2985)gtG>gtT	p.V995V	DAPK1_ENST00000469640.2_Silent_p.V1020V|DAPK1_ENST00000472284.1_Silent_p.V995V|DAPK1_ENST00000358077.5_Silent_p.V995V|DAPK1_ENST00000491893.1_Silent_p.V929V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	995					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGTACGACGTGCAGGACCAGC	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.V995V		.											.	DAPK1-359	0			c.G2985T						.						51.0	53.0	53.0					9																	90318057		2125	4239	6364	SO:0001819	synonymous_variant	1612	exon25	Familial Cancer Database	Familial CLL	CGACGTGCAGGAC	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2985G>T	9.37:g.90318057G>T		171	0		192	69	NM_004938	0	0	0	0	0	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																			.		0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
SYK	6850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	93637019	93637019	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:93637019G>C	ENST00000375754.4	+	9	1217	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	SYK_ENST00000375747.1_Missense_Mutation_p.E334Q|SYK_ENST00000375746.1_Missense_Mutation_p.E357Q|SYK_ENST00000375751.4_Missense_Mutation_p.E334Q	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	357	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGACCCCGAGGAGATCAGGCC	0.552			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																p.E357Q		.		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	.	SYK-1402	0			c.G1069C						.						148.0	162.0	157.0					9																	93637019		2203	4300	6503	SO:0001583	missense	6850	exon9			CCCGAGGAGATCA	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1069G>C	9.37:g.93637019G>C	ENSP00000364907:p.Glu357Gln	128	0		108	52	NM_003177	0	0	0	0	0		Missense_Mutation	SNP	ENST00000375754.4	37	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345720	0.82022	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.73469	-0.75;-0.74;-0.74;-0.75	4.15	4.15	0.48705	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	D	0.86952	0.2086	10	0.62326	D	0.03	.	16.9871	0.86342	0.0:0.0:1.0:0.0	.	334;357	P43405-2;P43405	.;KSYK_HUMAN	Q	357;334;334;357	ENSP00000364907:E357Q;ENSP00000364904:E334Q;ENSP00000364899:E334Q;ENSP00000364898:E357Q	ENSP00000364898:E357Q	E	+	1	0	SYK	92676840	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	9.037000	0.93765	2.317000	0.78254	0.561000	0.74099	GAG	.		0.552	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1		
NOL8	55035	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	95076909	95076909	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:95076909C>G	ENST00000535387.1	-	6	1997	c.1998G>C	c.(1996-1998)aaG>aaC	p.K666N	NOL8_ENST00000442668.2_Missense_Mutation_p.K666N|NOL8_ENST00000545558.1_Missense_Mutation_p.K666N|NOL8_ENST00000358855.4_Missense_Mutation_p.K598N|NOL8_ENST00000542053.1_Missense_Mutation_p.K598N					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTACTTCTCTTTTCAGAAC	0.428																																					p.K666N		.											.	NOL8-23	0			c.G1998C						.						42.0	38.0	39.0					9																	95076909		1885	4107	5992	SO:0001583	missense	55035	exon7			ACTTCTCTTTTCA	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1998G>C	9.37:g.95076909C>G	ENSP00000441300:p.Lys666Asn	142	2		166	47	NM_017948	0	0	0	0	0		Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	0.672	-0.801640	0.02841	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	4.95	-5.61	0.02489	.	1.225170	0.05355	N	0.532698	T	0.20659	0.0497	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08827	-1.0703	10	0.46703	T	0.11	-0.0515	0.3331	0.00322	0.2586:0.2423:0.1569:0.3421	.	666	Q76FK4	NOL8_HUMAN	N	666;668;598;666;666;598;666	ENSP00000401177:K666N;ENSP00000351723:K598N;ENSP00000441140:K666N;ENSP00000441300:K666N;ENSP00000440709:K598N;ENSP00000414112:K666N	ENSP00000351723:K598N	K	-	3	2	NOL8	94116730	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.185000	0.03073	-1.303000	0.02332	-1.268000	0.01426	AAG	.		0.428	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948	
NOL8	55035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	95077071	95077071	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:95077071G>A	ENST00000535387.1	-	6	1835	c.1836C>T	c.(1834-1836)tcC>tcT	p.S612S	NOL8_ENST00000442668.2_Silent_p.S612S|NOL8_ENST00000545558.1_Silent_p.S612S|NOL8_ENST00000358855.4_Silent_p.S544S|NOL8_ENST00000542053.1_Silent_p.S544S					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CATCTTCCATGGATATGATAC	0.398																																					p.S612S		.											.	NOL8-23	0			c.C1836T						.						82.0	72.0	75.0					9																	95077071		1894	4125	6019	SO:0001819	synonymous_variant	55035	exon7			TTCCATGGATATG	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1836C>T	9.37:g.95077071G>A		59	0		52	25	NM_017948	0	0	0	0	0		Silent	SNP	ENST00000535387.1	37	CCDS47993.1																																																																																			.		0.398	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948	
ECM2	1842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca|broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	95263198	95263199	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G|	G|	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:95263198_95263199GG>TT	ENST00000344604.5	-	9	1890_1891	c.1741_1742CC>AA	c.(1741-1743)CCa>AAa	p.P581K	ECM2_ENST00000444490.2_Missense_Mutation_p.P559K|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	581					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTCCAGGCCTGGTTCCATGTGG	0.475																																					p.P581Q|p.P581T		.											.	ECM2-131	0			c.C1742A|c.C1741A						.																																			SO:0001583	missense	1842	exon9			AGGCCTGGTTCCA|GGCCTGGTTCCAT	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1741_1742delinsTT	9.37:g.95263198_95263199delinsTT	ENSP00000344758:p.Pro581Lys	231|227	0|1		215|219	58|60	NM_001393	0	0	0	0	0	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1																																																																																			.		0.475	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393	
NUTM2G	441457	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	99694487	99694487	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:99694487delC	ENST00000372322.3	+	2	521	c.500delC	c.(499-501)gccfs	p.A167fs	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Frame_Shift_Del_p.A167fs	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	167																	GCCCAGGTGGCCCCCATCGTG	0.706																																					p.A167fs		.											.	FAM22G-69	0			c.500delC						.						43.0	46.0	45.0					9																	99694487		1909	4094	6003	SO:0001589	frameshift_variant	441457	exon2			AGGTGGCCCCCAT		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.500delC	9.37:g.99694487delC	ENSP00000361397:p.Ala167fs	392	0		713	165	NM_001045477	0	0	0	0	0	A6NNI5|Q5VZR3	Frame_Shift_Del	DEL	ENST00000372322.3	37	CCDS55329.1																																																																																			.		0.706	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741	
CCDC180	100499483	broad.mit.edu;bcgsc.ca	37	9	100122323	100122323	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:100122323G>T	ENST00000357054.1	+	37	4403	c.3468G>T	c.(3466-3468)caG>caT	p.Q1156H	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.Q1185H|CCDC180_ENST00000375202.2_Missense_Mutation_p.Q1185H|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1156						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AACTGAGCCAGAGGATTCAGT	0.517																																					p.Q1185H		.											.	.	0			c.G3555T						.						140.0	136.0	137.0					9																	100122323		2203	4300	6503	SO:0001583	missense	0	exon26			GAGCCAGAGGATT	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3468G>T	9.37:g.100122323G>T	ENSP00000349562:p.Gln1156His	220	1		258	90	NM_020893	0	0	0	0	0	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	G	17.43	3.387993	0.61956	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.09163	3.05;3.01;3.01	5.71	1.29	0.21616	.	0.712033	0.13308	N	0.397717	T	0.18425	0.0442	L	0.54323	1.7	0.80722	D	1	D;D	0.64830	0.991;0.994	P;P	0.59056	0.718;0.851	T	0.11299	-1.0593	10	0.72032	D	0.01	-6.2915	3.8275	0.08861	0.3198:0.1792:0.501:0.0	.	1324;1156	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	H	1156;1185;1185	ENSP00000349562:Q1156H;ENSP00000364348:Q1185H;ENSP00000434727:Q1185H	ENSP00000349562:Q1156H	Q	+	3	2	C9orf174	99162144	0.979000	0.34478	0.980000	0.43619	0.974000	0.67602	0.705000	0.25675	0.446000	0.26666	0.561000	0.74099	CAG	.		0.517	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
HEMGN	55363	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	100693484	100693484	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:100693484G>T	ENST00000259456.3	-	4	336	c.193C>A	c.(193-195)Cag>Aag	p.Q65K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	65	Necessary for nuclear localization.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTCTCTGCTGCTTGCGTTTT	0.423																																					p.Q65K		.											.	HEMGN-91	0			c.C193A						.						110.0	112.0	111.0					9																	100693484		2203	4299	6502	SO:0001583	missense	55363	exon3			TCTGCTGCTTGCG	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.193C>A	9.37:g.100693484G>T	ENSP00000259456:p.Gln65Lys	18	0		27	6	NM_197978	0	0	0	0	0	Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.404314	0.01165	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.99	-6.53	0.01866	.	0.672820	0.14499	N	0.315899	T	0.13457	0.0326	N	0.22421	0.69	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.38824	-0.9643	9	0.02654	T	1	15.2675	5.0314	0.14411	0.4926:0.0:0.1855:0.3219	.	65	Q9BXL5	HEMGN_HUMAN	K	65	.	ENSP00000259456:Q65K	Q	-	1	0	HEMGN	99733305	0.013000	0.17824	0.000000	0.03702	0.182000	0.23217	-0.205000	0.09411	-1.607000	0.01589	-0.469000	0.05056	CAG	.		0.423	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978	
COL15A1	1306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	101749611	101749611	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:101749611C>A	ENST00000375001.3	+	4	1107	c.684C>A	c.(682-684)ccC>ccA	p.P228P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	228	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACCCCGACCCCAGGACTCCCG	0.637																																					p.P228P		.											.	COL15A1-96	0			c.C684A						.						145.0	139.0	141.0					9																	101749611		2203	4300	6503	SO:0001819	synonymous_variant	1306	exon4			CGACCCCAGGACT	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.684C>A	9.37:g.101749611C>A		62	0		80	30	NM_001855	0	0	0	0	0	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																			.		0.637	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
COL15A1	1306	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	101765834	101765834	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:101765834A>G	ENST00000375001.3	+	8	1588	c.1165A>G	c.(1165-1167)Atg>Gtg	p.M389V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	389	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AACCCTCTCTATGTCCACGGA	0.612																																					p.M389V		.											.	COL15A1-96	0			c.A1165G						.						62.0	66.0	64.0					9																	101765834		2203	4300	6503	SO:0001583	missense	1306	exon8			CTCTCTATGTCCA	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1165A>G	9.37:g.101765834A>G	ENSP00000364140:p.Met389Val	260	1		266	91	NM_001855	0	0	0	0	0	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	2.112	-0.403465	0.04832	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.90197	-2.63	3.77	-4.79	0.03200	.	2.774870	0.01804	N	0.033084	T	0.81113	0.4755	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66106	-0.6006	10	0.27785	T	0.31	0.026	2.188	0.03892	0.4265:0.1253:0.3247:0.1236	.	389	P39059	COFA1_HUMAN	V	389;359	ENSP00000364140:M389V	ENSP00000364140:M389V	M	+	1	0	COL15A1	100805655	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.525000	0.02231	-1.528000	0.01756	-1.447000	0.01057	ATG	.		0.612	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
GRIN3A	116443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	104390541	104390541	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:104390541A>T	ENST00000361820.3	-	4	3095	c.2495T>A	c.(2494-2496)cTg>cAg	p.L832Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	832					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CACTCACTTCAGATACTCCAC	0.398																																					p.L832Q		.											.	GRIN3A-96	0			c.T2495A						.						119.0	109.0	112.0					9																	104390541		2203	4300	6503	SO:0001583	missense	116443	exon4			CACTTCAGATACT		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2495T>A	9.37:g.104390541A>T	ENSP00000355155:p.Leu832Gln	39	0		42	4	NM_133445	0	0	0	0	0	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994263	0.74703	.	.	ENSG00000198785	ENST00000361820	T	0.55234	0.53	5.76	5.76	0.90799	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.082312	0.49305	D	0.000145	T	0.75997	0.3926	M	0.85197	2.74	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.80432	-0.1385	10	0.87932	D	0	.	16.0711	0.80936	1.0:0.0:0.0:0.0	.	832	Q8TCU5	NMD3A_HUMAN	Q	832	ENSP00000355155:L832Q	ENSP00000355155:L832Q	L	-	2	0	GRIN3A	103430362	1.000000	0.71417	0.831000	0.32960	0.767000	0.43475	8.962000	0.93254	2.197000	0.70478	0.482000	0.46254	CTG	.		0.398	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
GRIN3A	116443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	104432880	104432880	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:104432880T>A	ENST00000361820.3	-	3	2414	c.1814A>T	c.(1813-1815)tAt>tTt	p.Y605F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	605					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCATGCTCCATACTTTCCATC	0.468																																					p.Y605F		.											.	GRIN3A-96	0			c.A1814T						.						99.0	83.0	89.0					9																	104432880		2203	4300	6503	SO:0001583	missense	116443	exon3			GCTCCATACTTTC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1814A>T	9.37:g.104432880T>A	ENSP00000355155:p.Tyr605Phe	138	0		108	33	NM_133445	0	0	0	0	0	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356894	0.82243	.	.	ENSG00000198785	ENST00000361820	T	0.14893	2.47	5.72	5.72	0.89469	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	L	0.47190	1.495	0.58432	D	0.999999	D	0.63880	0.993	D	0.69307	0.963	T	0.01675	-1.1298	10	0.22706	T	0.39	.	16.3625	0.83273	0.0:0.0:0.0:1.0	.	605	Q8TCU5	NMD3A_HUMAN	F	605	ENSP00000355155:Y605F	ENSP00000355155:Y605F	Y	-	2	0	GRIN3A	103472701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.246000	0.72405	2.319000	0.78375	0.524000	0.50904	TAT	.		0.468	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
GRIN3A	116443	broad.mit.edu;mdanderson.org	37	9	104499917	104499917	+	Missense_Mutation	SNP	C	C	A	rs538822263		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:104499917C>A	ENST00000361820.3	-	1	945	c.345G>T	c.(343-345)gaG>gaT	p.E115D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	115					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCCTGGCGCCCTCCCCGGGCT	0.726																																					p.E115D		.											.	GRIN3A-96	0			c.G345T						.						15.0	17.0	17.0					9																	104499917		2200	4293	6493	SO:0001583	missense	116443	exon1			GGCGCCCTCCCCG		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.345G>T	9.37:g.104499917C>A	ENSP00000355155:p.Glu115Asp	29	0		47	15	NM_133445	0	0	0	0	0	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	2.863	-0.235721	0.05944	.	.	ENSG00000198785	ENST00000361820	T	0.11277	2.79	5.12	2.27	0.28462	.	0.402275	0.20758	N	0.086215	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42447	-0.9451	10	0.12766	T	0.61	.	3.2127	0.06689	0.1141:0.544:0.1234:0.2185	.	115	Q8TCU5	NMD3A_HUMAN	D	115	ENSP00000355155:E115D	ENSP00000355155:E115D	E	-	3	2	GRIN3A	103539738	0.005000	0.15991	0.956000	0.39512	0.006000	0.05464	0.864000	0.27926	0.578000	0.29487	-0.749000	0.03505	GAG	.		0.726	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
OR13C8	138802	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	107331611	107331611	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:107331611C>A	ENST00000335040.1	+	1	163	c.163C>A	c.(163-165)Ctg>Atg	p.L55M		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGATTCTCACCTGCACACCCC	0.433																																					p.L55M		.											.	OR13C8-70	0			c.C163A						.						336.0	311.0	319.0					9																	107331611		2203	4300	6503	SO:0001583	missense	138802	exon1			TCTCACCTGCACA		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.163C>A	9.37:g.107331611C>A	ENSP00000334068:p.Leu55Met	97	0		96	30	NM_001004483	0	0	0	0	0	Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136464	0.56936	.	.	ENSG00000186943	ENST00000335040	T	0.02067	4.47	4.97	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000452	T	0.15565	0.0375	H	0.97440	4.005	0.34217	D	0.674923	D	0.59357	0.985	P	0.61940	0.896	T	0.15723	-1.0427	10	0.87932	D	0	.	7.1319	0.25507	0.0:0.691:0.1803:0.1287	.	55	Q8NGS7	O13C8_HUMAN	M	55	ENSP00000334068:L55M	ENSP00000334068:L55M	L	+	1	2	OR13C8	106371432	0.308000	0.24509	0.991000	0.47740	0.964000	0.63967	1.514000	0.35834	0.281000	0.22233	-0.127000	0.14921	CTG	.		0.433	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
ZNF462	58499	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	109746465	109746465	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:109746465A>T	ENST00000277225.5	+	10	7121		c.e10-1		ZNF462_ENST00000457913.1_Splice_Site|ZNF462_ENST00000441147.2_Splice_Site|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Splice_Site			Q96JM2	ZN462_HUMAN	zinc finger protein 462						chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTGTTTCCACAGAAGAGCGTG	0.428																																					.		.											.	ZNF462-95	0			c.6833-2A>T						.						76.0	74.0	75.0					9																	109746465		2203	4300	6503	SO:0001630	splice_region_variant	58499	exon10			TTCCACAGAAGAG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6833-1A>T	9.37:g.109746465A>T		71	1		99	33	NM_021224	0	0	0	0	0	Q5T0T4|Q8N408	Splice_Site	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260841	0.80246	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9057	0.79427	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF462	108786286	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.857000	0.92250	2.138000	0.66242	0.533000	0.62120	.	.		0.428	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	Intron
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	113169869	113169869	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:113169869G>T	ENST00000401783.2	-	38	8347	c.8011C>A	c.(8011-8013)Cat>Aat	p.H2671N	SVEP1_ENST00000297826.5_Missense_Mutation_p.H597N|SVEP1_ENST00000374469.1_Missense_Mutation_p.H2648N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2671	Sushi 21. {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						TTTGATGAATGTGTAGCAGGA	0.453																																					p.H2671N		.											.	SVEP1-75	0			c.C8011A						.						189.0	186.0	187.0					9																	113169869		1898	4122	6020	SO:0001583	missense	79987	exon38			ATGAATGTGTAGC	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.8011C>A	9.37:g.113169869G>T	ENSP00000384917:p.His2671Asn	96	0		116	35	NM_153366	0	0	0	0	0	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.279841	0.01410	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.23348	1.91;1.91;1.91	5.77	5.77	0.91146	Complement control module (2);Sushi/SCR/CCP (3);	0.453907	0.26029	N	0.026772	T	0.25531	0.0621	L	0.37697	1.125	0.80722	D	1	B	0.25007	0.116	B	0.28011	0.085	T	0.03993	-1.0986	10	0.20519	T	0.43	.	19.9764	0.97312	0.0:0.0:1.0:0.0	.	2671	Q4LDE5	SVEP1_HUMAN	N	2671;2648;597;343	ENSP00000384917:H2671N;ENSP00000363593:H2648N;ENSP00000297826:H597N	ENSP00000297826:H597N	H	-	1	0	SVEP1	112209690	0.997000	0.39634	0.024000	0.17045	0.026000	0.11368	6.352000	0.73027	2.727000	0.93392	0.585000	0.79938	CAT	.		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	113265477	113265477	+	Missense_Mutation	SNP	G	G	T	rs200840190		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:113265477G>T	ENST00000401783.2	-	6	1660	c.1324C>A	c.(1324-1326)Cgc>Agc	p.R442S	SVEP1_ENST00000374461.1_Missense_Mutation_p.R419S|SVEP1_ENST00000302728.8_Missense_Mutation_p.R442S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R419S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	442	Sushi 2. {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						TTCGGCTGGCGGAGATGAGGA	0.378																																					p.R442S		.											.	SVEP1-75	0			c.C1324A						.						129.0	126.0	127.0					9																	113265477		1962	4138	6100	SO:0001583	missense	79987	exon6			GCTGGCGGAGATG	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.1324C>A	9.37:g.113265477G>T	ENSP00000384917:p.Arg442Ser	209	0		251	85	NM_153366	0	0	0	0	0	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778797	0.31502	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.71	5.71	0.89125	Complement control module (2);Sushi/SCR/CCP (3);	0.341445	0.32819	N	0.005618	T	0.37679	0.1012	N	0.05306	-0.075	0.30182	N	0.800354	B;B;B	0.17465	0.022;0.022;0.018	B;B;B	0.15484	0.013;0.008;0.004	T	0.27872	-1.0061	10	0.23302	T	0.38	.	9.5424	0.39260	0.0806:0.1461:0.7734:0.0	.	442;442;442	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	S	442;419;442;419	ENSP00000384917:R442S;ENSP00000363593:R419S;ENSP00000304118:R442S;ENSP00000363585:R419S	ENSP00000304118:R442S	R	-	1	0	SVEP1	112305298	0.992000	0.36948	1.000000	0.80357	0.847000	0.48162	2.393000	0.44442	2.687000	0.91594	0.655000	0.94253	CGC	G|0.999;A|0.001		0.378	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
MUSK	4593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	113547978	113547978	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:113547978T>A	ENST00000374448.4	+	13	1892	c.1758T>A	c.(1756-1758)ttT>ttA	p.F586L	MUSK_ENST00000189978.5_Missense_Mutation_p.F586L|MUSK_ENST00000416899.2_Missense_Mutation_p.F578L|MUSK_ENST00000374438.1_Missense_Mutation_p.F102L	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	586	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGGGAGCGTTTGGAAGGGTGT	0.408																																					p.F586L		.											.	MUSK-1379	0			c.T1758A						.						93.0	88.0	89.0					9																	113547978		1852	4104	5956	SO:0001583	missense	4593	exon12			AGCGTTTGGAAGG	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1758T>A	9.37:g.113547978T>A	ENSP00000363571:p.Phe586Leu	110	0		141	68	NM_005592	0	0	0	0	0	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443565	0.83993	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	D;D	0.89196	-2.48;-2.48	5.86	4.73	0.59995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94443	0.8212	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.94216	0.7463	10	0.62326	D	0.03	.	11.1371	0.48381	0.0:0.0717:0.0:0.9283	.	586	O15146	MUSK_HUMAN	L	592;586;586;500;500;102;584;102	ENSP00000363571:F586L;ENSP00000363561:F102L	ENSP00000189978:F592L	F	+	3	2	MUSK	112587799	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.596000	0.36718	1.053000	0.40415	0.533000	0.62120	TTT	.		0.408	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
FKBP15	23307	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	115969505	115969505	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:115969505G>A	ENST00000238256.3	-	3	358	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	81	Important for function in growth cone organization. {ECO:0000250}.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CGATATGCATGGACTGCTGTT	0.458																																					p.H81Y		.											.	FKBP15-25	0			c.C241T						.						378.0	390.0	386.0					9																	115969505		2116	4235	6351	SO:0001583	missense	23307	exon3			ATGCATGGACTGC	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.241C>T	9.37:g.115969505G>A	ENSP00000238256:p.His81Tyr	136	0		191	83	NM_015258	0	0	0	0	0	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221189	0.58560	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.41065	1.01;1.01;1.01	6.04	5.15	0.70609	.	.	.	.	.	T	0.43567	0.1253	M	0.66939	2.045	0.46149	D	0.998896	B;B;B	0.13145	0.006;0.007;0.003	B;B;B	0.11329	0.006;0.006;0.003	T	0.41106	-0.9527	9	0.87932	D	0	-8.7419	12.9139	0.58195	0.0777:0.0:0.9223:0.0	.	81;81;81	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	Y	106;81;106	ENSP00000416158:H106Y;ENSP00000238256:H81Y;ENSP00000415733:H106Y	ENSP00000238256:H81Y	H	-	1	0	FKBP15	115009326	1.000000	0.71417	0.994000	0.49952	0.938000	0.57974	5.069000	0.64370	1.572000	0.49736	0.563000	0.77884	CAT	.		0.458	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258	
ALAD	210	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	116151361	116151361	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:116151361T>A	ENST00000409155.3	-	11	1023	c.827A>T	c.(826-828)tAc>tTc	p.Y276F	ALAD_ENST00000482001.1_5'Flank|ALAD_ENST00000277315.5_Missense_Mutation_p.Y259F	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	276					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	AGAGACGTGGTACACGGCGAG	0.622																																					p.Y276F		.											.	ALAD-90	0			c.A827T						.						43.0	38.0	40.0					9																	116151361		2203	4300	6503	SO:0001583	missense	210	exon11			ACGTGGTACACGG	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.827A>T	9.37:g.116151361T>A	ENSP00000386284:p.Tyr276Phe	231	2		257	102	NM_000031	0	0	0	0	0	A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	T	29.9	5.048717	0.93740	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.92495	-3.05;-3.05	5.7	5.7	0.88788	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98516	1.0621	10	0.87932	D	0	-13.591	14.8005	0.69913	0.0:0.0:0.0:1.0	.	276;259;305	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	F	276;259	ENSP00000386284:Y276F;ENSP00000277315:Y259F	ENSP00000277315:Y259F	Y	-	2	0	ALAD	115191182	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.419000	0.80179	2.172000	0.68678	0.533000	0.62120	TAC	.		0.622	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945	
C9orf43	257169	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	116176080	116176080	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:116176080G>A	ENST00000288462.4	+	3	639	c.193G>A	c.(193-195)Ggc>Agc	p.G65S	C9orf43_ENST00000374165.1_Missense_Mutation_p.G65S|C9orf43_ENST00000490544.1_3'UTR	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	65								p.G65C(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CTTAGATTCCGGCTTTGCAGC	0.428																																					p.G65S		.											.	C9orf43-90	1	Substitution - Missense(1)	lung(1)	c.G193A						.						107.0	99.0	101.0					9																	116176080		2203	4300	6503	SO:0001583	missense	257169	exon3			GATTCCGGCTTTG	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.193G>A	9.37:g.116176080G>A	ENSP00000288462:p.Gly65Ser	113	2		95	33	NM_152786	0	0	0	0	0		Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	2.479	-0.320199	0.05386	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.39056	1.1;1.1	5.65	3.25	0.37280	.	0.965595	0.08556	N	0.928311	T	0.23926	0.0579	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.22347	-1.0219	10	0.52906	T	0.07	0.2436	6.6734	0.23080	0.152:0.0:0.1608:0.6872	.	65	Q8TAL5	CI043_HUMAN	S	65	ENSP00000363280:G65S;ENSP00000288462:G65S	ENSP00000288462:G65S	G	+	1	0	C9orf43	115215901	0.259000	0.24043	0.281000	0.24762	0.004000	0.04260	1.396000	0.34531	0.473000	0.27368	-0.375000	0.07067	GGC	.		0.428	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786	
COL27A1	85301	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	117070019	117070019	+	Silent	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:117070019T>C	ENST00000356083.3	+	59	5569	c.5178T>C	c.(5176-5178)caT>caC	p.H1726H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1726	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACTTCACTCATGGTGGACAGA	0.597																																					p.H1726H		.											.	COL27A1-94	0			c.T5178C						.						225.0	167.0	187.0					9																	117070019		2203	4300	6503	SO:0001819	synonymous_variant	85301	exon59			CACTCATGGTGGA	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5178T>C	9.37:g.117070019T>C		191	1		259	85	NM_032888	0	0	0	0	0	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																			.		0.597	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
AKNA	80709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	117143414	117143414	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:117143414G>A	ENST00000307564.4	-	2	361	c.200C>T	c.(199-201)cCg>cTg	p.P67L	AKNA_ENST00000374088.3_Missense_Mutation_p.P67L|AKNA_ENST00000312033.3_Missense_Mutation_p.P67L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	67					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTCCAGGGGCGGCAGGTGCTG	0.607																																					p.P67L		.											.	AKNA-94	0			c.C200T						.						56.0	49.0	51.0					9																	117143414		2203	4300	6503	SO:0001583	missense	80709	exon2			AGGGGCGGCAGGT	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.200C>T	9.37:g.117143414G>A	ENSP00000303769:p.Pro67Leu	64	0		114	51	NM_030767	0	0	0	0	0	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	0.762	-0.769051	0.02974	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000312033;ENST00000394574	T;T;T	0.31247	2.73;2.73;1.5	4.0	-3.75	0.04372	.	0.672421	0.12462	N	0.466766	T	0.12220	0.0297	N	0.24115	0.695	0.09310	N	1	B;B	0.18166	0.026;0.005	B;B	0.10450	0.005;0.002	T	0.37361	-0.9709	10	0.02654	T	1	-0.2748	4.7063	0.12851	0.4418:0.0:0.3664:0.1918	.	67;67	Q7Z591-6;Q7Z591	.;AKNA_HUMAN	L	67	ENSP00000303769:P67L;ENSP00000363201:P67L;ENSP00000309222:P67L	ENSP00000303769:P67L	P	-	2	0	AKNA	116183235	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-1.003000	0.03682	-0.762000	0.04664	-0.367000	0.07326	CCG	.		0.607	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	
PAPPA	5069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	118949703	118949703	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:118949703G>C	ENST00000328252.3	+	2	1055	c.686G>C	c.(685-687)aGc>aCc	p.S229T	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	229					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCATATTCAGCCCACTGACC	0.552																																					p.S229T		.											.	PAPPA-77	0			c.G686C						.						67.0	62.0	63.0					9																	118949703		2203	4300	6503	SO:0001583	missense	5069	exon2			TATTCAGCCCACT		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.686G>C	9.37:g.118949703G>C	ENSP00000330658:p.Ser229Thr	86	0		93	12	NM_002581	0	0	0	0	0	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677503	0.68042	.	.	ENSG00000182752	ENST00000328252	T	0.02709	4.19	6.07	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.036172	0.85682	D	0.000000	T	0.17534	0.0421	M	0.85197	2.74	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.01212	-1.1417	10	0.59425	D	0.04	-27.9556	16.7338	0.85442	0.0:0.0:0.8696:0.1303	.	229	Q13219	PAPP1_HUMAN	T	229	ENSP00000330658:S229T	ENSP00000330658:S229T	S	+	2	0	PAPPA	117989524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.836000	0.86788	1.553000	0.49476	0.655000	0.94253	AGC	.		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
PAPPA	5069	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	118997834	118997834	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:118997834C>G	ENST00000328252.3	+	7	3019	c.2650C>G	c.(2650-2652)Ctg>Gtg	p.L884V	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	884					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGTAAGCCCCTGAAGTATAA	0.507																																					p.L884V		.											.	PAPPA-77	0			c.C2650G						.						95.0	79.0	84.0					9																	118997834		2203	4300	6503	SO:0001583	missense	5069	exon7			AAGCCCCTGAAGT		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2650C>G	9.37:g.118997834C>G	ENSP00000330658:p.Leu884Val	137	1		142	43	NM_002581	0	0	0	0	0	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	0.930	-0.712902	0.03206	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.40756	1.02	6.03	0.89	0.19218	.	0.189919	0.46442	D	0.000285	T	0.17789	0.0427	N	0.19112	0.55	0.80722	D	1	B;B	0.28378	0.204;0.209	B;B	0.29353	0.101;0.038	T	0.09292	-1.0681	10	0.07482	T	0.82	-12.0418	1.0409	0.01559	0.2008:0.3877:0.106:0.3054	.	328;884	E7EMD3;Q13219	.;PAPP1_HUMAN	V	884;328	ENSP00000330658:L884V	ENSP00000330658:L884V	L	+	1	2	PAPPA	118037655	0.058000	0.20735	0.734000	0.30879	0.313000	0.28021	0.490000	0.22403	0.157000	0.19338	0.655000	0.94253	CTG	.		0.507	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
PAPPA	5069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	119097159	119097159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:119097159C>A	ENST00000328252.3	+	13	3786	c.3417C>A	c.(3415-3417)tgC>tgA	p.C1139*	PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C177*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1139					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCCTGAGCTGCAGGAACAATC	0.632																																					p.C1139X		.											.	PAPPA-77	0			c.C3417A						.						64.0	55.0	58.0					9																	119097159		2203	4300	6503	SO:0001587	stop_gained	5069	exon13			GAGCTGCAGGAAC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3417C>A	9.37:g.119097159C>A	ENSP00000330658:p.Cys1139*	106	0		129	27	NM_002581	0	0	0	0	0	B1AMF9|Q08371|Q68G52|Q9UDK7	Nonsense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	46	12.153291	0.99641	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.3188	19.7459	0.96252	0.0:1.0:0.0:0.0	.	.	.	.	X	1139;177	.	ENSP00000330658:C1139X	C	+	3	2	PAPPA	118136980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.627000	0.61276	2.669000	0.90835	0.655000	0.94253	TGC	.		0.632	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
ASTN2	23245	ucsc.edu;bcgsc.ca	37	9	120053671	120053671	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:120053671G>C	ENST00000313400.4	-	2	664	c.564C>G	c.(562-564)gcC>gcG	p.A188A	ASTN2_ENST00000373996.3_Silent_p.A188A|ASTN2_ENST00000361209.2_Silent_p.A188A|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	188					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGAGAGTGGGGGCGGTGGCTT	0.607																																					p.A188A		.											.	ASTN2-161	0			c.C564G						.						59.0	60.0	59.0					9																	120053671		2203	4300	6503	SO:0001819	synonymous_variant	23245	exon2			AGTGGGGGCGGTG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.564C>G	9.37:g.120053671G>C		224	3		259	94	NM_014010	0	0	0	0	0	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																				.		0.607	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
TLR4	7099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	120475502	120475502	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:120475502G>C	ENST00000355622.6	+	3	1197	c.1096G>C	c.(1096-1098)Gct>Cct	p.A366P	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A326P	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	366					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AGGTGGGAATGCTTTTTCAGA	0.373																																					p.A366P		.											.	TLR4-577	0			c.G1096C						.						55.0	59.0	58.0					9																	120475502		2203	4300	6503	SO:0001583	missense	7099	exon3			GGGAATGCTTTTT	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1096G>C	9.37:g.120475502G>C	ENSP00000363089:p.Ala366Pro	137	0		128	35	NM_138554	0	0	0	0	0	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	9.400	1.077647	0.20227	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.21734	1.99;1.99	5.71	-0.671	0.11381	.	0.926584	0.09217	N	0.832373	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35798	-0.9774	10	0.27082	T	0.32	.	1.8502	0.03167	0.4267:0.2191:0.248:0.1062	.	366	O00206	TLR4_HUMAN	P	326;366	ENSP00000377997:A326P;ENSP00000363089:A366P	ENSP00000363089:A366P	A	+	1	0	TLR4	119515323	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.079000	0.14782	-0.116000	0.11893	-1.073000	0.02249	GCT	.		0.373	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
CNTRL	11064	broad.mit.edu;bcgsc.ca	37	9	123888004	123888004	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:123888004A>G	ENST00000373855.1	+	14	2075	c.1815A>G	c.(1813-1815)gcA>gcG	p.A605A	CNTRL_ENST00000373850.1_Silent_p.A53A|CNTRL_ENST00000238341.5_Silent_p.A605A|CNTRL_ENST00000373847.1_Silent_p.A53A			Q7Z7A1	CNTRL_HUMAN	centriolin	605					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCCAGATAGCAGCAAATGAAG	0.413																																					p.A605A		.											.	CNTRL-661	0			c.A1815G						.						105.0	107.0	106.0					9																	123888004		2203	4300	6503	SO:0001819	synonymous_variant	11064	exon12			GATAGCAGCAAAT	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1815A>G	9.37:g.123888004A>G		70	2		100	31	NM_007018	0	0	0	0	0	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	CCDS35118.1																																																																																			.		0.413	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
MORN5	254956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	124936842	124936842	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:124936842C>A	ENST00000373764.3	+	4	437	c.375C>A	c.(373-375)gaC>gaA	p.D125E	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000536616.1_Missense_Mutation_p.D125E	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	125										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						ATTGTGGAGACGGCTTCTATA	0.458																																					p.D125E		.											.	MORN5-90	0			c.C375A						.						110.0	104.0	106.0					9																	124936842		2203	4300	6503	SO:0001583	missense	254956	exon4			TGGAGACGGCTTC	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.375C>A	9.37:g.124936842C>A	ENSP00000362869:p.Asp125Glu	124	0		106	46	NM_198469	0	0	0	0	0	B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	37	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826247	0.50739	.	.	ENSG00000185681	ENST00000373764;ENST00000536616;ENST00000418632	T;T;T	0.28255	1.98;1.91;1.62	5.65	-1.67	0.08238	.	0.044727	0.85682	D	0.000000	T	0.33147	0.0853	M	0.65975	2.015	0.43598	D	0.995952	P;P	0.50272	0.933;0.874	P;B	0.47470	0.548;0.261	T	0.13980	-1.0489	10	0.44086	T	0.13	-5.6296	10.0937	0.42462	0.0:0.4522:0.0:0.5478	.	125;125	B7Z7I5;Q5VZ52	.;MORN5_HUMAN	E	125;125;109	ENSP00000362869:D125E;ENSP00000437483:D125E;ENSP00000409949:D109E	ENSP00000362869:D125E	D	+	3	2	MORN5	123976663	0.188000	0.23250	0.990000	0.47175	0.544000	0.35116	-0.784000	0.04633	-0.451000	0.07097	-0.809000	0.03173	GAC	.		0.458	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469	
LHX6	26468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	124971944	124971944	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:124971944G>T	ENST00000373755.2	-	8	1128	c.1020C>A	c.(1018-1020)ccC>ccA	p.P340P	LHX6_ENST00000373754.2_Intron|LHX6_ENST00000394319.4_Silent_p.P369P|LHX6_ENST00000340587.3_Intron|LHX6_ENST00000464484.2_Intron|LHX6_ENST00000541397.2_Intron|LHX6_ENST00000482062.1_Silent_p.P27P|LHX6_ENST00000559895.1_Silent_p.P153P	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	340					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						tgaggtggacggggggtgcgg	0.642																																					p.P369P		.											.	LHX6-90	0			c.C1107A						.						77.0	64.0	68.0					9																	124971944		2203	4300	6503	SO:0001819	synonymous_variant	26468	exon9			GTGGACGGGGGGT	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.1020C>A	9.37:g.124971944G>T		159	0		201	91	NM_014368	0	0	0	0	0	A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	ENST00000373755.2	37	CCDS56583.1																																																																																			.		0.642	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368	
PTGS1	5742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	125154577	125154577	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:125154577G>T	ENST00000362012.2	+	11	1559	c.1554G>T	c.(1552-1554)ggG>ggT	p.G518G	PTGS1_ENST00000373698.5_Silent_p.G409G|PTGS1_ENST00000540753.1_Silent_p.G456G|PTGS1_ENST00000223423.4_Silent_p.G481G	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	518					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTATCTTTGGGGAGAGTATGA	0.507																																					p.G518G		.											.	PTGS1-228	0			c.G1554T						.						92.0	95.0	94.0					9																	125154577		2203	4300	6503	SO:0001819	synonymous_variant	5742	exon11			CTTTGGGGAGAGT	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1554G>T	9.37:g.125154577G>T		129	0		178	67	NM_000962	0	0	0	0	0	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	CCDS6842.1																																																																																			.		0.507	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1		
OR1K1	392392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	125562551	125562551	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:125562551C>A	ENST00000277309.2	+	1	182	c.150C>A	c.(148-150)atC>atA	p.I50I		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGGCTGCCATCCAGGCCAGTC	0.572																																					p.I50I		.											.	OR1K1-69	0			c.C150A						.						136.0	96.0	109.0					9																	125562551		2203	4300	6503	SO:0001819	synonymous_variant	392392	exon1			TGCCATCCAGGCC	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.150C>A	9.37:g.125562551C>A		161	0		255	102	NM_080859	0	0	0	0	0	B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	CCDS35132.1																																																																																			.		0.572	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1		
ZBTB26	57684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	125681181	125681181	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:125681181G>A	ENST00000373656.3	-	2	1106	c.1033C>T	c.(1033-1035)Ctt>Ttt	p.L345F	ZBTB26_ENST00000373654.1_Missense_Mutation_p.L345F	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	345					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)|large_intestine(4)|lung(4)|prostate(1)	11						TGAAGGTTAAGATGATCCTGT	0.408																																					p.L345F		.											.	ZBTB26-90	0			c.C1033T						.						72.0	73.0	72.0					9																	125681181		2203	4300	6503	SO:0001583	missense	57684	exon2			GGTTAAGATGATC	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.1033C>T	9.37:g.125681181G>A	ENSP00000362760:p.Leu345Phe	95	0		76	24	NM_020924	0	0	0	0	0	B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399340	0.62177	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.09255	3.0;3.0	5.85	5.85	0.93711	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.32285	0.0824	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04454	-1.0950	10	0.10902	T	0.67	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	345	Q9HCK0	ZBT26_HUMAN	F	345	ENSP00000362760:L345F;ENSP00000362758:L345F	ENSP00000362758:L345F	L	-	1	0	ZBTB26	124721002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.498000	0.66931	2.767000	0.95098	0.655000	0.94253	CTT	.		0.408	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924	
CRB2	286204	hgsc.bcm.edu	37	9	126136139	126136139	+	Missense_Mutation	SNP	C	C	T	rs73571431	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:126136139C>T	ENST00000373631.3	+	10	3330	c.3329C>T	c.(3328-3330)aCg>aTg	p.T1110M	CRB2_ENST00000359999.3_Missense_Mutation_p.T1110M|CRB2_ENST00000373629.2_Missense_Mutation_p.T778M	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1110	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.		T -> M (in dbSNP:rs73571431). {ECO:0000269|PubMed:15851977}.		cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCTGTCACACGCACCCCGAC	0.771													C|||	530	0.105831	0.1059	0.1873	5008	,	,		9885	0.0764		0.1412	False		,,,				2504	0.0419				p.T1110M		.											.	CRB2-91	0			c.C3329T						.	C	MET/THR	273,2733		10,253,1240	3.0	3.0	3.0		3329	2.8	0.1	9	dbSNP_131	3	523,5481		24,475,2503	no	missense	CRB2	NM_173689.5	81	34,728,3743	TT,TC,CC		8.7109,9.0818,8.8346	possibly-damaging	1110/1286	126136139	796,8214	1503	3002	4505	SO:0001583	missense	286204	exon10			GTCACACGCACCC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3329C>T	9.37:g.126136139C>T	ENSP00000362734:p.Thr1110Met	0	0		8	7	NM_173689	0	0	0	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	272	0.12454212454212454	60	0.12195121951219512	50	0.13812154696132597	56	0.0979020979020979	106	0.13984168865435356	.	6.539	0.467763	0.12402	0.090818	0.087109	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.90732	-2.1;-2.0;-2.72	3.77	2.82	0.32997	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.339200	0.05453	N	0.549893	T	0.01976	0.0062	N	0.12746	0.255	0.80722	P	0.0	P;D	0.56521	0.925;0.976	B;B	0.38562	0.101;0.276	T	0.57100	-0.7869	9	0.36615	T	0.2	.	3.1184	0.06382	0.0:0.4522:0.2781:0.2698	.	1110;1110	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	M	1110;1110;778	ENSP00000353092:T1110M;ENSP00000362734:T1110M;ENSP00000362732:T778M	ENSP00000353092:T1110M	T	+	2	0	CRB2	125175960	0.000000	0.05858	0.081000	0.20488	0.039000	0.13416	0.001000	0.13038	1.929000	0.55896	0.455000	0.32223	ACG	C|0.875;T|0.125		0.771	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689	
OLFML2A	169611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	127549290	127549290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:127549290G>T	ENST00000373580.3	+	2	127	c.127G>T	c.(127-129)Gag>Tag	p.E43*		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	43					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GATGACCTCGGAGGGCTCCGA	0.642																																					p.E43X		.											.	OLFML2A-68	0			c.G127T						.						66.0	74.0	71.0					9																	127549290		2075	4204	6279	SO:0001587	stop_gained	169611	exon2			ACCTCGGAGGGCT	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.127G>T	9.37:g.127549290G>T	ENSP00000362682:p.Glu43*	28	0		48	18	NM_182487	0	0	0	0	0	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Nonsense_Mutation	SNP	ENST00000373580.3	37	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	37	6.473185	0.97594	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4586	0.90729	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000336425:E43X	E	+	1	0	OLFML2A	126589111	1.000000	0.71417	0.968000	0.41197	0.938000	0.57974	9.425000	0.97467	2.699000	0.92147	0.655000	0.94253	GAG	.		0.642	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487	
GOLGA1	2800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	127670717	127670717	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:127670717C>T	ENST00000373555.4	-	12	1337	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	335					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAGCTGTTGTCTGGTATCCTC	0.433																																					p.R335K		.											.	GOLGA1-91	0			c.G1004A						.						134.0	121.0	125.0					9																	127670717		2203	4300	6503	SO:0001583	missense	2800	exon12			TGTTGTCTGGTAT	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1004G>A	9.37:g.127670717C>T	ENSP00000362656:p.Arg335Lys	78	0		96	34	NM_002077	0	0	0	0	0	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299327	0.60195	.	.	ENSG00000136935	ENST00000373555	T	0.76709	-1.04	5.78	4.89	0.63831	.	0.000000	0.51477	D	0.000096	T	0.81688	0.4875	L	0.60455	1.87	0.41340	D	0.987296	D	0.64830	0.994	D	0.70716	0.97	T	0.79155	-0.1920	10	0.05351	T	0.99	-10.0665	12.0768	0.53649	0.0:0.92:0.0:0.08	.	335	Q92805	GOGA1_HUMAN	K	335	ENSP00000362656:R335K	ENSP00000362656:R335K	R	-	2	0	GOLGA1	126710538	0.998000	0.40836	1.000000	0.80357	0.939000	0.58152	4.581000	0.60949	1.450000	0.47717	0.650000	0.86243	AGA	.		0.433	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077	
SH2D3C	10044	broad.mit.edu;bcgsc.ca	37	9	130501188	130501188	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:130501188C>A	ENST00000314830.8	-	12	2533	c.2420G>T	c.(2419-2421)cGg>cTg	p.R807L	SH2D3C_ENST00000373274.3_Missense_Mutation_p.R647L|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R649L|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R739L|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R650L|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R453L	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	807	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGCTCCGGCCGGGCCTGGAA	0.642																																					p.R807L		.											.	SH2D3C-228	0			c.G2420T						.						20.0	19.0	19.0					9																	130501188		2196	4299	6495	SO:0001583	missense	10044	exon12			TCCGGCCGGGCCT	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2420G>T	9.37:g.130501188C>A	ENSP00000317817:p.Arg807Leu	100	2		122	49	NM_170600	0	0	0	0	0	A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245808	0.22796	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.23754	2.72;2.72;2.47;2.72;1.89;2.69	5.5	2.39	0.29439	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.307323	0.34750	N	0.003702	T	0.19927	0.0479	L	0.50333	1.59	0.58432	D	0.999994	B;B;B;B;B	0.16603	0.001;0.018;0.0;0.0;0.006	B;B;B;B;B	0.09377	0.001;0.003;0.001;0.001;0.004	T	0.06058	-1.0848	10	0.34782	T	0.22	-13.7067	7.0625	0.25133	0.1404:0.6425:0.0:0.2171	.	647;807;739;650;649	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	L	650;649;739;647;453;807	ENSP00000362374:R650L;ENSP00000388536:R649L;ENSP00000362373:R739L;ENSP00000362371:R647L;ENSP00000394632:R453L;ENSP00000317817:R807L	ENSP00000317817:R807L	R	-	2	0	SH2D3C	129541009	0.001000	0.12720	0.997000	0.53966	0.693000	0.40251	-0.338000	0.07842	1.310000	0.45006	-0.140000	0.14226	CGG	.		0.642	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489	
SPTAN1	6709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	131395498	131395498	+	Missense_Mutation	SNP	G	G	A	rs141980692		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:131395498G>A	ENST00000372731.4	+	56	7414	c.7304G>A	c.(7303-7305)cGg>cAg	p.R2435Q	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2440Q|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2440Q|WDR34_ENST00000483181.1_5'Flank	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2435	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AACCTGACCCGGGAACAAGCC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17553	0.0		0.0	False		,,,				2504	0.001				p.R2440Q	NSCLC(120;833 1744 2558 35612 37579)	.											.	SPTAN1-158	0			c.G7319A						.	G	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	61.0	63.0		7319,7244,7304	4.7	1.0	9	dbSNP_134	63	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	43,43,43	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign,benign	2440/2478,2415/2453,2435/2473	131395498	4,13002	2203	4300	6503	SO:0001583	missense	6709	exon57			TGACCCGGGAACA	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7304G>A	9.37:g.131395498G>A	ENSP00000361816:p.Arg2435Gln	77	0		97	21	NM_001130438	0	0	0	0	0	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151004	0.57151	2.27E-4	3.49E-4	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.42900	0.96;0.96;0.96	4.69	4.69	0.59074	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.244803	0.35615	N	0.003082	T	0.24470	0.0593	N	0.04508	-0.205	0.43719	D	0.99619	B;B;P	0.42039	0.244;0.296;0.769	B;B;B	0.38156	0.031;0.024;0.266	T	0.18085	-1.0348	10	0.40728	T	0.16	.	17.7973	0.88577	0.0:0.0:1.0:0.0	.	2415;2440;2435	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	Q	2440;2435;2440;2415	ENSP00000350882:R2440Q;ENSP00000361816:R2435Q;ENSP00000361824:R2440Q	ENSP00000350882:R2440Q	R	+	2	0	SPTAN1	130435319	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.347000	0.65998	2.415000	0.81967	0.561000	0.74099	CGG	G|0.999;A|0.001		0.642	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
ZER1	10444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	131513410	131513410	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:131513410C>A	ENST00000291900.2	-	7	1582	c.1176G>T	c.(1174-1176)cgG>cgT	p.R392R	ZER1_ENST00000494461.1_5'Flank|snoU13_ENST00000459043.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	392					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CCTTCAGGGCCCGCAGCAGCT	0.657																																					p.R392R		.											.	ZER1-91	0			c.G1176T						.						33.0	31.0	32.0					9																	131513410		2200	4298	6498	SO:0001819	synonymous_variant	10444	exon7			CAGGGCCCGCAGC	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1176G>T	9.37:g.131513410C>A		85	0		150	50	NM_006336	0	0	0	0	0	O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	37	CCDS6910.1																																																																																			.		0.657	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336	
ASS1	445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	133342123	133342123	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:133342123C>T	ENST00000372394.1	+	7	913	c.432C>T	c.(430-432)ccC>ccT	p.P144P	ASS1_ENST00000352480.5_Silent_p.P144P|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Silent_p.P144P			P00966	ASSY_HUMAN	argininosuccinate synthase 1	144					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TCATTGCTCCCTGGAGGATGC	0.612																																					p.P144P		.											.	ASS1-91	0			c.C432T						.						88.0	73.0	78.0					9																	133342123		2203	4300	6503	SO:0001819	synonymous_variant	445	exon6			TGCTCCCTGGAGG	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.432C>T	9.37:g.133342123C>T		100	0		130	44	NM_054012	0	0	0	0	0	Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP	ENST00000372394.1	37	CCDS6933.1																																																																																			.		0.612	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050	
SETX	23064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	135140278	135140278	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:135140278T>A	ENST00000224140.5	-	26	7564	c.7382A>T	c.(7381-7383)aAg>aTg	p.K2461M	SETX_ENST00000372169.2_Missense_Mutation_p.K2490M|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Missense_Mutation_p.K2428M	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2461					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTCAGAATCTTCACTGCATC	0.498																																					p.K2461M		.											.	SETX-93	0			c.A7382T						.						98.0	102.0	101.0					9																	135140278		2203	4300	6503	SO:0001583	missense	23064	exon26			AGAATCTTCACTG	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7382A>T	9.37:g.135140278T>A	ENSP00000224140:p.Lys2461Met	103	0		124	57	NM_015046	0	0	0	0	0	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952544	0.53293	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.94417	-2.33;-3.42;-2.88;-2.04	4.83	3.68	0.42216	.	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	M	0.74881	2.28	0.41300	D	0.987037	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.994;0.997	D	0.95761	0.8800	10	0.59425	D	0.04	.	9.1024	0.36676	0.0:0.0884:0.0:0.9116	.	2428;2461;2490	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	M	2461;732;2490;2428	ENSP00000224140:K2461M;ENSP00000409143:K732M;ENSP00000361242:K2490M;ENSP00000376913:K2428M	ENSP00000224140:K2461M	K	-	2	0	SETX	134130099	1.000000	0.71417	0.992000	0.48379	0.401000	0.30781	2.183000	0.42565	1.933000	0.56026	0.459000	0.35465	AAG	.		0.498	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
SETX	23064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	135210060	135210060	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:135210060A>C	ENST00000224140.5	-	7	955	c.773T>G	c.(772-774)tTg>tGg	p.L258W	SETX_ENST00000372169.2_Missense_Mutation_p.L258W|SETX_ENST00000393220.1_Missense_Mutation_p.L258W	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	258					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTCTGAGCCCAACAACAGGGA	0.353																																					p.L258W		.											.	SETX-93	0			c.T773G						.						169.0	140.0	150.0					9																	135210060		2203	4300	6503	SO:0001583	missense	23064	exon7			GAGCCCAACAACA	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.773T>G	9.37:g.135210060A>C	ENSP00000224140:p.Leu258Trp	129	0		154	25	NM_015046	0	0	0	0	0	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912779	0.72983	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.65178	-0.14;-0.14;-0.14	5.91	5.91	0.95273	.	0.098474	0.40469	N	0.001096	T	0.71195	0.3311	L	0.32530	0.975	0.37792	D	0.927396	D	0.89917	1.0	D	0.91635	0.999	T	0.76767	-0.2838	10	0.87932	D	0	.	15.5243	0.75890	1.0:0.0:0.0:0.0	.	258	Q7Z333	SETX_HUMAN	W	258	ENSP00000224140:L258W;ENSP00000361242:L258W;ENSP00000376913:L258W	ENSP00000224140:L258W	L	-	2	0	SETX	134199881	1.000000	0.71417	0.954000	0.39281	0.645000	0.38454	6.778000	0.75043	2.263000	0.75096	0.377000	0.23210	TTG	.		0.353	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
DDX31	64794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	135505693	135505693	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:135505693G>A	ENST00000372159.3	-	16	2055	c.1904C>T	c.(1903-1905)tCg>tTg	p.S635L	DDX31_ENST00000438527.3_Missense_Mutation_p.S506L|DDX31_ENST00000372153.1_Missense_Mutation_p.R627W	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	635	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTCTGCCTCCGAAGGAGCCAA	0.502																																					p.S635L		.											.	DDX31-226	0			c.C1904T						.						108.0	115.0	113.0					9																	135505693		2203	4300	6503	SO:0001583	missense	64794	exon16			GCCTCCGAAGGAG	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1904C>T	9.37:g.135505693G>A	ENSP00000361232:p.Ser635Leu	74	0		84	14	NM_022779	0	0	0	0	0	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.790868|4.790868	0.90367|0.90367	.|.	.|.	ENSG00000125485|ENSG00000125485	ENST00000372153|ENST00000372159;ENST00000372155;ENST00000438527	T|T;T	0.03663|0.04917	3.85|3.53;3.53	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Helicase, C-terminal (1);	.|0.181682	.|0.49305	.|D	.|0.000141	T|T	0.22126|0.22126	0.0533|0.0533	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.71674	1.0|0.998	P|P	0.62014|0.58660	0.897|0.843	T|T	0.00098|0.00098	-1.2069|-1.2069	9|10	0.72032|0.66056	D|D	0.01|0.02	-14.0261|-14.0261	18.551|18.551	0.91065|0.91065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	627|635	Q9H8H2-2|Q9H8H2	.|DDX31_HUMAN	W|L	627|635;635;506	ENSP00000361226:R627W|ENSP00000361232:S635L;ENSP00000387730:S506L	ENSP00000361226:R627W|ENSP00000361228:S635L	R|S	-|-	1|2	2|0	DDX31|DDX31	134495514|134495514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.984000|7.984000	0.88150|0.88150	2.619000|2.619000	0.88677|0.88677	0.650000|0.650000	0.86243|0.86243	CGG|TCG	.		0.502	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	
GTF3C4	9329	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	135554353	135554353	+	Missense_Mutation	SNP	G	G	T	rs375549318		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:135554353G>T	ENST00000372146.4	+	2	1911	c.1347G>T	c.(1345-1347)caG>caT	p.Q449H	GTF3C4_ENST00000483873.2_3'UTR	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	449					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGGTGAGGCAGCTGATTCCCA	0.468																																					p.Q449H	Pancreas(142;417 1875 11086 31973 47667)	.											.	GTF3C4-91	0			c.G1347T						.						116.0	101.0	106.0					9																	135554353		2203	4300	6503	SO:0001583	missense	9329	exon2			GAGGCAGCTGATT	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1347G>T	9.37:g.135554353G>T	ENSP00000361219:p.Gln449His	165	1		216	77	NM_012204	0	0	0	0	0	Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601999	0.46423	.	.	ENSG00000125484	ENST00000372146	T	0.63096	-0.02	5.61	4.72	0.59763	.	0.103446	0.64402	D	0.000003	T	0.56001	0.1956	N	0.14661	0.345	0.42367	D	0.992436	D	0.61080	0.989	P	0.53809	0.735	T	0.59994	-0.7349	10	0.44086	T	0.13	-27.0342	13.2165	0.59863	0.0773:0.0:0.9227:0.0	.	449	Q9UKN8	TF3C4_HUMAN	H	449	ENSP00000361219:Q449H	ENSP00000361219:Q449H	Q	+	3	2	GTF3C4	134544174	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.329000	0.43876	1.384000	0.46424	0.491000	0.48974	CAG	.		0.468	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1		
TSC1	7248	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	135781060	135781060	+	Silent	SNP	T	T	A	rs118203598|rs118203597|rs397514796		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:135781060T>A	ENST00000298552.3	-	15	2126	c.1905A>T	c.(1903-1905)acA>acT	p.T635T	TSC1_ENST00000545250.1_Silent_p.T584T|TSC1_ENST00000440111.2_Silent_p.T635T	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	635					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CATCTTCCTCTGTGTTTCCTT	0.498			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.T635T		.	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	.	TSC1-1906	1	Unknown(1)	bone(1)	c.A1905T	GRCh37	CD972489	TSC1	D	rs118203598	.						231.0	193.0	206.0					9																	135781060		2203	4300	6503	SO:0001819	synonymous_variant	7248	exon15	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	TTCCTCTGTGTTT	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1905A>T	9.37:g.135781060T>A		170	1		209	69	NM_000368	0	0	0	0	0	B7Z897|Q5VVN5	Silent	SNP	ENST00000298552.3	37	CCDS6956.1																																																																																			.		0.498	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1		
GBGT1	26301	bcgsc.ca	37	9	136029495	136029495	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:136029495C>A	ENST00000372040.3	-	7	824	c.513G>T	c.(511-513)caG>caT	p.Q171H	RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372038.3_3'UTR|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372043.3_Missense_Mutation_p.R165M|GBGT1_ENST00000540636.1_Missense_Mutation_p.Q154H	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	171					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GGGAGTGACCCTGGATGGGGA	0.627																																					p.Q171H		.											.	GBGT1-90	0			c.G513T						.						42.0	37.0	38.0					9																	136029495		2203	4299	6502	SO:0001583	missense	26301	exon7			GTGACCCTGGATG	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.513G>T	9.37:g.136029495C>A	ENSP00000361110:p.Gln171His	95	2		124	41	NM_021996	0	0	0	0	0	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	CCDS6960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.246|5.246	0.230895|0.230895	0.09969|0.09969	.|.	.|.	ENSG00000148288|ENSG00000148288	ENST00000372040;ENST00000540636|ENST00000372043	T;T|T	0.01287|0.25085	5.05;5.05|1.82	5.38|5.38	3.46|3.46	0.39613|0.39613	.|.	0.981452|.	0.08357|.	N|.	0.958368|.	T|T	0.30417|0.30417	0.0764|0.0764	L|L	0.46885|0.46885	1.475|1.475	0.09310|0.09310	N|N	1|1	B;B|.	0.13145|.	0.007;0.007|.	B;B|.	0.15052|.	0.012;0.007|.	T|T	0.14337|0.14337	-1.0476|-1.0476	10|7	0.45353|0.87932	T|D	0.12|0	-0.2384|-0.2384	9.9592|9.9592	0.41686|0.41686	0.1476:0.5672:0.2852:0.0|0.1476:0.5672:0.2852:0.0	.|.	154;171|.	B7Z8S5;Q8N5D6|.	.;GBGT1_HUMAN|.	H|M	171;154|165	ENSP00000361110:Q171H;ENSP00000437663:Q154H|ENSP00000361113:R165M	ENSP00000361110:Q171H|ENSP00000361113:R165M	Q|R	-|-	3|2	2|0	GBGT1|GBGT1	135019316|135019316	0.000000|0.000000	0.05858|0.05858	0.036000|0.036000	0.18154|0.18154	0.300000|0.300000	0.27592|0.27592	-1.332000|-1.332000	0.02670|0.02670	0.585000|0.585000	0.29608|0.29608	0.491000|0.491000	0.48974|0.48974	CAG|AGG	.		0.627	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996	
ADAMTS13	11093	hgsc.bcm.edu;bcgsc.ca	37	9	136324173	136324173	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:136324173delG	ENST00000371929.3	+	29	4599	c.4155delG	c.(4153-4155)cagfs	p.Q1385fs	ADAMTS13_ENST00000371910.1_Frame_Shift_Del_p.Q181fs|CACFD1_ENST00000540581.1_5'Flank|ADAMTS13_ENST00000371916.1_3'UTR|CACFD1_ENST00000291722.7_5'Flank|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000355699.2_Frame_Shift_Del_p.Q1329fs|ADAMTS13_ENST00000356589.2_Frame_Shift_Del_p.Q1298fs|ADAMTS13_ENST00000485925.1_3'UTR|CACFD1_ENST00000542192.1_5'Flank	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1385	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGAGCAGCCAGGCTGAGATGG	0.622																																					p.Q1385fs		.											.	ADAMTS13-229	0			c.4155delG						.						42.0	39.0	40.0					9																	136324173		2202	4300	6502	SO:0001589	frameshift_variant	11093	exon29			CAGCCAGGCTGAG	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4155delG	9.37:g.136324173delG	ENSP00000360997:p.Gln1385fs	174	1		226	81	NM_139025	0	0	0	0	0	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Frame_Shift_Del	DEL	ENST00000371929.3	37	CCDS6970.1																																																																																			.		0.622	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025	
COL5A1	1289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	137658845	137658845	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:137658845G>T	ENST00000371817.3	+	23	2547		c.e23-1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						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)		GTCTCCTGTAGGGTCCCCAGG	0.632																																					.		.											.	COL5A1-524	0			c.2134-1G>T						.						45.0	44.0	44.0					9																	137658845		2201	4300	6501	SO:0001630	splice_region_variant	1289	exon23			CCTGTAGGGTCCC	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.2134-1G>T	9.37:g.137658845G>T		130	0		161	54	NM_000093	0	0	0	0	0	Q15094|Q5SUX4	Splice_Site	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849614	0.71603	.	.	ENSG00000130635	ENST00000371817	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1691	0.65497	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL5A1	136798666	1.000000	0.71417	0.993000	0.49108	0.913000	0.54294	5.174000	0.65015	2.395000	0.81488	0.655000	0.94253	.	.		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Intron
SOHLH1	402381	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	138585537	138585537	+	3'UTR	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:138585537C>T	ENST00000298466.5	-	0	1702				SOHLH1_ENST00000425225.1_Missense_Mutation_p.S357N	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1						oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CTCCAGAGGGCTGTCCTGGAG	0.637																																					p.S357N		.											.	SOHLH1-135	0			c.G1070A						.						17.0	21.0	20.0					9																	138585537		1937	4146	6083	SO:0001624	3_prime_UTR_variant	402381	exon8			AGAGGGCTGTCCT	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.*655G>A	9.37:g.138585537C>T		195	0		250	83	NM_001101677	0	0	0	0	0	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920084	0.33908	.	.	ENSG00000165643	ENST00000425225	T	0.32753	1.44	4.78	2.81	0.32909	.	.	.	.	.	T	0.34774	0.0909	.	.	.	0.09310	N	1	P	0.50528	0.936	P	0.47645	0.553	T	0.14783	-1.0460	8	0.72032	D	0.01	.	11.3284	0.49463	0.0:0.647:0.353:0.0	.	357	Q5JUK2-2	.	N	357	ENSP00000404438:S357N	ENSP00000404438:S357N	S	-	2	0	SOHLH1	137725358	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.193000	0.17116	1.220000	0.43490	0.650000	0.86243	AGC	.		0.637	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415	
KCNT1	57582	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	138660771	138660771	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:138660771G>T	ENST00000263604.3	+	15	1441	c.1441G>T	c.(1441-1443)Gtc>Ttc	p.V481F	KCNT1_ENST00000486577.2_Missense_Mutation_p.V461F|KCNT1_ENST00000491806.2_Missense_Mutation_p.V467F|KCNT1_ENST00000371757.2_Missense_Mutation_p.V500F|KCNT1_ENST00000488444.2_Missense_Mutation_p.V481F|KCNT1_ENST00000298480.5_Missense_Mutation_p.V500F|KCNT1_ENST00000490355.2_Missense_Mutation_p.V481F|KCNT1_ENST00000487664.1_Missense_Mutation_p.V455F			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	481	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAAGTTTCACGTCAAGTTTGC	0.617																																					p.V500F		.											.	KCNT1-137	0			c.G1498T						.						112.0	98.0	103.0					9																	138660771		2201	4300	6501	SO:0001583	missense	57582	exon15			TTTCACGTCAAGT	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1441G>T	9.37:g.138660771G>T	ENSP00000263604:p.Val481Phe	43	0		65	15	NM_020822	0	0	0	0	0	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	G	20.0	3.929724	0.73327	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.45	3.47	0.39725	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000002	T	0.78039	0.4221	M	0.69823	2.125	0.80722	D	1	P;D;P;B	0.54207	0.585;0.965;0.53;0.386	B;D;B;B	0.65443	0.422;0.935;0.387;0.419	T	0.80881	-0.1184	10	0.87932	D	0	-13.9798	12.1682	0.54141	0.0:0.0:0.8285:0.1715	.	467;500;455;481	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	F	455;500;500;461;467;481;481;481	ENSP00000417851:V455F;ENSP00000298480:V500F;ENSP00000360822:V500F;ENSP00000263604:V481F	ENSP00000263604:V481F	V	+	1	0	KCNT1	137800592	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.387000	0.73191	2.017000	0.59298	0.491000	0.48974	GTC	.		0.617	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
SEC16A	9919	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	139341310	139341310	+	Silent	SNP	G	G	A	rs376794566		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:139341310G>A	ENST00000371706.3	-	26	6288	c.6255C>T	c.(6253-6255)ccC>ccT	p.P2085P	SEC16A_ENST00000431893.2_Silent_p.P2085P|SEC16A_ENST00000313050.7_Silent_p.P2263P|SEC16A_ENST00000467838.1_5'Flank|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000313084.5_Silent_p.P291P|SEC16A_ENST00000290037.6_Silent_p.P2085P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2085	Pro-rich.|Required for interaction with SEC23A.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGCTCACCTTGGGCTCTGGGG	0.622																																					p.P2263P		.											.	.	0			c.C6789T						.						69.0	77.0	74.0					9																	139341310		1969	4131	6100	SO:0001819	synonymous_variant	9919	exon28			CACCTTGGGCTCT	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6255C>T	9.37:g.139341310G>A		73	1		80	33	NM_014866	0	0	0	0	0	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	G	3.314	-0.140093	0.06669	.	.	ENSG00000148396	ENST00000433860	.	.	.	4.6	1.02	0.19986	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.3552	2.029	0.03525	0.111:0.1711:0.4585:0.2594	.	.	.	.	X	412	.	.	Q	-	1	0	SEC16A	138461131	0.994000	0.37717	0.074000	0.20217	0.020000	0.10135	0.987000	0.29603	0.462000	0.27095	0.313000	0.20887	CAA	.		0.622	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
NOTCH1	4851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	139391450	139391450	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:139391450C>G	ENST00000277541.6	-	34	6816	c.6741G>C	c.(6739-6741)ctG>ctC	p.L2247L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2247					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K2182fs*61(1)|p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGCCACGTTCAGGTGCCCGA	0.716			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																											p.L2247L		.		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	.	NOTCH1-5459	2	Deletion - Frameshift(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)	c.G6741C						.						14.0	17.0	16.0					9																	139391450		2009	4144	6153	SO:0001819	synonymous_variant	4851	exon34			CACGTTCAGGTGC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6741G>C	9.37:g.139391450C>G		14	0		171	44	NM_017617	0	0	0	0	0	Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1																																																																																			.		0.716	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	
LCN6	158062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	139639178	139639178	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:139639178G>C	ENST00000341206.4	-	5	472	c.428C>G	c.(427-429)gCc>gGc	p.A143G	LCN10_ENST00000474369.1_5'Flank|LCN6_ENST00000480584.1_5'UTR|LCN10_ENST00000497771.1_5'Flank|LCN6_ENST00000471509.1_5'UTR|LCN6_ENST00000476567.1_Missense_Mutation_p.A58G|LCN10_ENST00000527229.1_5'Flank|LCN6_ENST00000435202.1_Missense_Mutation_p.A133G	NM_198946.2	NP_945184.1	P62502	LCN6_HUMAN	lipocalin 6	143					single fertilization (GO:0007338)	extracellular region (GO:0005576)				lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CTCCTGGCTGGCTGTCTCCGT	0.667																																					p.A143G	Melanoma(172;919 2704 37090 48131)	.											.	LCN6-90	0			c.C428G						.						38.0	30.0	33.0					9																	139639178		2202	4300	6502	SO:0001583	missense	158062	exon5			TGGCTGGCTGTCT	AF303084	CCDS7005.1	9q34.3	2012-10-08			ENSG00000267206	ENSG00000267206		"""Lipocalins"""	17337	protein-coding gene	gene with protein product		609379					Standard	NM_198946		Approved		uc004ciy.2	P62502	OTTHUMG00000020941	ENST00000341206.4:c.428C>G	9.37:g.139639178G>C	ENSP00000339621:p.Ala143Gly	120	0		134	53	NM_198946	0	0	0	0	0	B0QZ80|Q71SF6	Missense_Mutation	SNP	ENST00000341206.4	37	CCDS7005.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399699	0.42512	.	.	ENSG00000204003	ENST00000341206	T	0.07444	3.19	3.68	3.68	0.42216	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.550372	0.13947	N	0.351780	T	0.25606	0.0623	M	0.70595	2.14	0.30523	N	0.768253	D	0.76494	0.999	D	0.81914	0.995	T	0.02596	-1.1136	10	0.38643	T	0.18	-11.9225	11.6664	0.51376	0.0:0.0:1.0:0.0	.	143	P62502	LCN6_HUMAN	G	143	ENSP00000339621:A143G	ENSP00000339621:A143G	A	-	2	0	LCN6	138758999	0.995000	0.38212	0.555000	0.28281	0.048000	0.14542	2.486000	0.45259	1.994000	0.58287	0.552000	0.68991	GCC	.		0.667	LCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055107.3	NM_198946	
SLC34A3	142680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	140126591	140126591	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:140126591G>T	ENST00000538474.1	+	3	377	c.153G>T	c.(151-153)aaG>aaT	p.K51N	SLC34A3_ENST00000361134.2_Missense_Mutation_p.K51N	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	51					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCAGCTGAAGGACACAAGCC	0.627																																					p.K51N		.											.	SLC34A3-90	0			c.G153T						.						95.0	100.0	98.0					9																	140126591		2203	4300	6503	SO:0001583	missense	142680	exon3			GCTGAAGGACACA	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.153G>T	9.37:g.140126591G>T	ENSP00000442397:p.Lys51Asn	143	0		165	64	NM_001177317	0	0	0	0	0	A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	g	13.65	2.301828	0.40694	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.33654	1.4;1.4	3.58	-0.749	0.11084	.	0.242826	0.27126	N	0.020820	T	0.35595	0.0937	M	0.67397	2.05	0.23827	N	0.99674	D	0.58620	0.983	P	0.47864	0.559	T	0.29305	-1.0016	10	0.32370	T	0.25	-11.9598	7.5696	0.27900	0.464:0.0:0.536:0.0	.	51	Q8N130	NPT2C_HUMAN	N	51	ENSP00000442397:K51N;ENSP00000355353:K51N	ENSP00000355353:K51N	K	+	3	2	SLC34A3	139246412	0.992000	0.36948	0.565000	0.28409	0.638000	0.38207	0.568000	0.23623	-0.056000	0.13221	0.306000	0.20318	AAG	.		0.627	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877	
NOXA1	10811	hgsc.bcm.edu	37	9	140317999	140317999	+	Missense_Mutation	SNP	C	C	G	rs112864733	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:140317999C>G	ENST00000341349.2	+	1	198	c.18C>G	c.(16-18)gaC>gaG	p.D6E	EXD3_ENST00000465160.2_5'Flank|EXD3_ENST00000340951.4_5'Flank|NOXA1_ENST00000392815.2_Missense_Mutation_p.D6E|snoU13_ENST00000606918.1_RNA|EXD3_ENST00000479452.1_5'Flank|EXD3_ENST00000475006.1_5'Flank|EXD3_ENST00000342129.4_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		17	11	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		
EHMT1	79813	broad.mit.edu;bcgsc.ca	37	9	140671292	140671292	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr9:140671292G>T	ENST00000460843.1	+	12	2041	c.2014G>T	c.(2014-2016)Ggc>Tgc	p.G672C	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.G641C|EHMT1_ENST00000462484.1_Missense_Mutation_p.G672C	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	672					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CACCACAACGGGCAGGTACCT	0.577																																					p.G672C		.											.	EHMT1-154	0			c.G2014T						.						40.0	37.0	38.0					9																	140671292		2203	4300	6503	SO:0001583	missense	79813	exon12			ACAACGGGCAGGT	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2014G>T	9.37:g.140671292G>T	ENSP00000417980:p.Gly672Cys	79	2		98	34	NM_001145527	0	0	0	0	0	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841916	0.91197	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.72394	1.34;0.61;-0.65	5.32	5.32	0.75619	.	0.111469	0.64402	D	0.000012	D	0.82536	0.5058	M	0.62723	1.935	0.58432	D	0.999993	B;D;D	0.89917	0.022;1.0;1.0	B;D;D	0.70487	0.03;0.969;0.969	D	0.83731	0.0198	10	0.62326	D	0.03	.	18.6174	0.91308	0.0:0.0:1.0:0.0	.	672;641;672	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	C	641;641;672;672	ENSP00000334476:G641C;ENSP00000417328:G672C;ENSP00000417980:G672C	ENSP00000334476:G641C	G	+	1	0	EHMT1	139791113	1.000000	0.71417	0.987000	0.45799	0.947000	0.59692	9.555000	0.98123	2.477000	0.83638	0.561000	0.74099	GGC	.		0.577	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	
PPP2R3B	28227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	322316	322316	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:322316G>A	ENST00000390665.3	-	2	352	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	112					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTTCTTTCCGTGTCTGAACC	0.602																																					p.R112W		.											.	PPP2R3B-136	0			c.C334T						.						120.0	149.0	139.0					X																	322316		2072	4202	6274	SO:0001583	missense	28227	exon2			CTTTCCGTGTCTG	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.334C>T	X.37:g.322316G>A	ENSP00000375080:p.Arg112Trp	312	1		278	154	NM_013239	0	0	0	0	0	Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	G	2.753	-0.259699	0.05791	.	.	ENSG00000167393	ENST00000390665;ENST00000381625	T;T	0.30448	1.53;2.43	1.62	0.068	0.14368	.	1.913840	0.03511	U	0.219645	T	0.23492	0.0568	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	P	0.46629	0.522	T	0.13176	-1.0519	10	0.72032	D	0.01	.	5.5603	0.17140	0.0:0.0:0.2837:0.7163	.	112	Q9Y5P8	P2R3B_HUMAN	W	112;84	ENSP00000375080:R112W;ENSP00000371038:R84W	ENSP00000371038:R84W	R	-	1	2	PPP2R3B	242316	0.998000	0.40836	0.004000	0.12327	0.051000	0.14879	2.543000	0.45752	-0.618000	0.05656	0.115000	0.15696	CGG	.		0.602	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239	
ASMTL	8623	hgsc.bcm.edu	37	X	1571720	1571720	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:1571720G>A	ENST00000381317.3	-	1	46	c.14C>T	c.(13-15)cCg>cTg	p.P5L	ASMTL_ENST00000534940.1_Intron|ASMTL_ENST00000381333.4_Missense_Mutation_p.P5L|ASMTL_ENST00000416733.2_5'UTR	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	5						cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCAATCACCGGGCACAGCAC	0.716																																					p.P5L		.											.	ASMTL-62	0			c.C14T						.						16.0	22.0	20.0					X																	1571720		1936	4101	6037	SO:0001583	missense	8623	exon1			ATCACCGGGCACA	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.14C>T	X.37:g.1571720G>A	ENSP00000370718:p.Pro5Leu	6	0		48	28	NM_001173474	0	0	0	0	0	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	N	11.16	1.556258	0.27827	.	.	ENSG00000169093	ENST00000381333;ENST00000381317	T;T	0.04360	4.05;3.64	2.12	2.12	0.27331	.	0.000000	0.64402	U	0.000001	T	0.17746	0.0426	M	0.80028	2.48	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.989	T	0.01666	-1.1300	10	0.87932	D	0	.	7.1258	0.25471	0.0:0.0:0.732:0.268	.	5;5	O95671-2;O95671	.;ASML_HUMAN	L	5	ENSP00000370734:P5L;ENSP00000370718:P5L	ENSP00000370718:P5L	P	-	2	0	ASMTL	1531720	0.716000	0.27956	0.863000	0.33907	0.398000	0.30690	2.208000	0.42797	0.649000	0.30751	0.272000	0.19324	CCG	.		0.716	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192	
CD99	4267	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	2637737	2637737	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:2637737G>T	ENST00000381192.3	+	4	366	c.184G>T	c.(184-186)Gga>Tga	p.G62*	CD99_ENST00000381187.3_Nonsense_Mutation_p.G46*|CD99_ENST00000482405.2_3'UTR|CD99_ENST00000381184.1_Nonsense_Mutation_p.G62*	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	62					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TGTTGTTGATGGAGAAAATGG	0.383																																					p.G62X		.											.	CD99-40	0			c.G184T						.						741.0	723.0	729.0					X																	2637737		2203	4296	6499	SO:0001587	stop_gained	4267	exon4			GTTGATGGAGAAA	M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.184G>T	X.37:g.2637737G>T	ENSP00000370588:p.Gly62*	537	2		413	222	NM_002414	0	0	0	0	0	A6NIW1|O00518|Q6ICV7	Nonsense_Mutation	SNP	ENST00000381192.3	37	CCDS14119.1	.	.	.	.	.	.	.	.	.	.	g	12.78	2.039887	0.35989	.	.	ENSG00000002586	ENST00000381192;ENST00000381187;ENST00000381184;ENST00000449611	.	.	.	1.16	1.16	0.20824	.	0.214204	0.29544	U	0.011854	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	5.3433	0.15996	0.0:0.0:1.0:0.0	.	.	.	.	X	62;46;62;105	.	ENSP00000370579:G62X	G	+	1	0	CD99	2647737	0.012000	0.17670	0.017000	0.16124	0.009000	0.06853	1.595000	0.36708	0.872000	0.35775	0.436000	0.28706	GGA	.		0.383	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898	
MXRA5	25878	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	3229122	3229122	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:3229122G>A	ENST00000217939.6	-	7	7276	c.7122C>T	c.(7120-7122)ccC>ccT	p.P2374P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2374	Ig-like C2-type 8.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTTGGGCATGGGTTCTCCTT	0.537																																					p.P2374P		.											.	MXRA5-136	0			c.C7122T						.						129.0	108.0	115.0					X																	3229122		2203	4300	6503	SO:0001819	synonymous_variant	25878	exon7			GGGCATGGGTTCT	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7122C>T	X.37:g.3229122G>A		192	1		157	74	NM_015419	0	0	0	0	0	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																			.		0.537	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	3241638	3241638	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:3241638C>G	ENST00000217939.6	-	5	2242	c.2088G>C	c.(2086-2088)gtG>gtC	p.V696V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	696						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCATCCTCCACGATGTCTT	0.522																																					p.V696V		.											.	MXRA5-136	0			c.G2088C						.						75.0	72.0	73.0					X																	3241638		2203	4300	6503	SO:0001819	synonymous_variant	25878	exon5			ATCCTCCACGATG	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2088G>C	X.37:g.3241638C>G		91	0		73	45	NM_015419	0	0	0	0	0	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																			.		0.522	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	3248114	3248114	+	Silent	SNP	C	C	A	rs200950732		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:3248114C>A	ENST00000217939.6	-	4	808	c.654G>T	c.(652-654)ccG>ccT	p.P218P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	218	LRRCT.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGCAGGTCCACGGATTTCCCT	0.473																																					p.P218P		.											.	MXRA5-136	0			c.G654T						.						64.0	58.0	60.0					X																	3248114		2203	4300	6503	SO:0001819	synonymous_variant	25878	exon4			GGTCCACGGATTT	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.654G>T	X.37:g.3248114C>A		132	0		76	38	NM_015419	0	0	0	0	0	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																			.		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
FAM9A	171482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	8763196	8763196	+	Nonsense_Mutation	SNP	C	C	A	rs377667696		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:8763196C>A	ENST00000543214.1	-	7	889	c.754G>T	c.(754-756)Gga>Tga	p.G252*	FAM9A_ENST00000381003.3_Nonsense_Mutation_p.G252*	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	252	Glu-rich.|Poly-Gly.					nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				cctcctcctccttcttctcct	0.458																																					p.G252X		.											.	FAM9A-130	0			c.G754T						.		stop/GLY,stop/GLY	0,3814		0,0,1624,566	42.0	36.0	38.0		754,754	0.5	0.0	X		38	2,6701		0,2,2424,1851	no	stop-gained,stop-gained	FAM9A	NM_001171186.1,NM_174951.3	,	0,2,4048,2417	AA,AC,CC,C		0.0298,0.0,0.019	,	252/333,252/333	8763196	2,10515	2190	4277	6467	SO:0001587	stop_gained	171482	exon7			CTCCTCCTTCTTC		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.754G>T	X.37:g.8763196C>A	ENSP00000440163:p.Gly252*	59	0		48	32	NM_174951	0	0	0	0	0	B7ZLH5|Q2M2D1	Nonsense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	c	13.01	2.108796	0.37242	0.0	2.98E-4	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.507	0.507	0.16967	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	252	.	ENSP00000370391:G252X	G	-	1	0	FAM9A	8723196	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	0.096000	0.15147	0.562000	0.29204	0.394000	0.25966	GGA	.		0.458	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951	
AMELX	265	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	11316882	11316882	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:11316882C>T	ENST00000380714.3	+	5	427	c.359C>T	c.(358-360)cCt>cTt	p.P120L	AMELX_ENST00000380712.3_Missense_Mutation_p.P134L|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.P104L|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	120					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCAAACCTCCCTCCGCCCGCC	0.662																																					p.P134L		.											.	AMELX-130	0			c.C401T						.						105.0	89.0	95.0					X																	11316882		2203	4300	6503	SO:0001583	missense	265	exon6			ACCTCCCTCCGCC		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.359C>T	X.37:g.11316882C>T	ENSP00000370090:p.Pro120Leu	153	0		162	77	NM_182680	0	0	0	0	0	Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670919	0.29693	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.88277	-2.36;-2.36;-2.36	4.85	2.95	0.34219	.	0.177373	0.38837	N	0.001549	D	0.87394	0.6166	M	0.84511	2.7	0.41607	D	0.988883	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.002	T	0.81680	-0.0823	10	0.66056	D	0.02	0.0361	4.6684	0.12676	0.0:0.6043:0.1708:0.225	.	104;120;134	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	L	120;134;104	ENSP00000370090:P120L;ENSP00000370088:P134L;ENSP00000335312:P104L	ENSP00000335312:P104L	P	+	2	0	AMELX	11226803	0.254000	0.23992	0.976000	0.42696	0.978000	0.69477	0.504000	0.22626	0.347000	0.23924	-0.448000	0.05591	CCT	.		0.662	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142	
ARHGAP6	395	hgsc.bcm.edu	37	X	11682852	11682852	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:11682852G>T	ENST00000337414.4	-	1	969	c.97C>A	c.(97-99)Cgc>Agc	p.R33S	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R33S|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R33S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	33					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGGTCTGGCGCAGCTTCCTC	0.721																																					p.R33S		.											.	ARHGAP6-227	0			c.C97A						.						5.0	6.0	6.0					X																	11682852		1767	3565	5332	SO:0001583	missense	395	exon1			TCTGGCGCAGCTT	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.97C>A	X.37:g.11682852G>T	ENSP00000338967:p.Arg33Ser	32	0		44	13	NM_006125	0	0	0	0	0	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314121	0.95655	.	.	ENSG00000047648	ENST00000337414;ENST00000380718;ENST00000380732	T;T;T	0.53206	1.1;0.88;0.63	4.82	4.82	0.62117	.	.	.	.	.	T	0.52917	0.1764	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.988	D;P	0.64595	0.927;0.892	T	0.58775	-0.7577	9	0.72032	D	0.01	.	14.4354	0.67277	0.0:0.0:1.0:0.0	.	33;33	O43182-2;O43182	.;RHG06_HUMAN	S	33	ENSP00000338967:R33S;ENSP00000370094:R33S;ENSP00000370108:R33S	ENSP00000338967:R33S	R	-	1	0	ARHGAP6	11592773	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.179000	0.71974	1.987000	0.57996	0.594000	0.82650	CGC	.		0.721	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427	
FAM9C	171484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	13056583	13056583	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:13056583C>T	ENST00000333995.3	-	7	608	c.478G>A	c.(478-480)Ggg>Agg	p.G160R	FAM9C_ENST00000380625.3_Missense_Mutation_p.G160R|FAM9C_ENST00000542843.1_3'UTR			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	160						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GTTCCTTTCCCATCTTGTTGC	0.328																																					p.G160R		.											.	FAM9C-130	0			c.G478A						.						127.0	105.0	113.0					X																	13056583		2203	4300	6503	SO:0001583	missense	171484	exon7			CTTTCCCATCTTG		CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"""testis expressed 39C"""	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.478G>A	X.37:g.13056583C>T	ENSP00000334430:p.Gly160Arg	35	0		17	8	NM_174901	0	0	0	0	0	B2R9G7|Q5HYJ6	Missense_Mutation	SNP	ENST00000333995.3	37	CCDS35203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.004|0.004	-2.381265|-2.381265	0.00205|0.00205	.|.	.|.	ENSG00000187268|ENSG00000187268	ENST00000380625;ENST00000333995|ENST00000438997	.|.	.|.	.|.	0.225|0.225	-0.451|-0.451	0.12214|0.12214	.|.	.|.	.|.	.|.	.|.	T|T	0.08758|0.08758	0.0217|0.0217	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.22034|0.22034	-1.0228|-1.0228	7|4	0.02654|.	T|.	1|.	.|.	.|.	.|.	.|.	.|.	160|.	Q8IZT9|.	FAM9C_HUMAN|.	R|I	160|119	.|.	ENSP00000334430:G160R|.	G|M	-|-	1|3	0|0	FAM9C|FAM9C	12966504|12966504	0.828000|0.828000	0.29307|0.29307	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	0.000000|0.000000	0.12993|0.12993	-1.974000|-1.974000	0.00998|0.00998	-1.954000|-1.954000	0.00483|0.00483	GGG|ATG	.		0.328	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901	
ZRSR2	8233	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	15841143	15841143	+	Silent	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:15841143A>G	ENST00000307771.7	+	11	1251	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	409					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AATCTCACAAACGCACATCAA	0.577			"""F, S, Mis"""		"""MDS, CLL"""																																p.K409K	NSCLC(197;1631 3042 5741 31152)	.		Rec	yes		X	Xp22.1	8233	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""		L	.	ZRSR2-133	0			c.A1227G						.						43.0	42.0	43.0					X																	15841143		2198	4296	6494	SO:0001819	synonymous_variant	8233	exon11			TCACAAACGCACA	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1227A>G	X.37:g.15841143A>G		210	1		214	125	NM_005089	0	0	0	0	0	Q14D69	Silent	SNP	ENST00000307771.7	37	CCDS14172.1																																																																																			.		0.577	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089	
GRPR	2925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	16168476	16168476	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:16168476G>A	ENST00000380289.2	+	2	860	c.462G>A	c.(460-462)ctG>ctA	p.L154L	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	154					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCATGCCCTGATGAAGATCT	0.488																																					p.L154L		.											.	GRPR-565	0			c.G462A						.						102.0	98.0	99.0					X																	16168476		2203	4300	6503	SO:0001819	synonymous_variant	2925	exon2			TGCCCTGATGAAG		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.462G>A	X.37:g.16168476G>A		164	0		107	60	NM_005314	0	0	0	0	0	B2R910	Silent	SNP	ENST00000380289.2	37	CCDS14174.1																																																																																			.		0.488	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314	
PHKA2	5256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	18911675	18911675	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:18911675C>A	ENST00000379942.4	-	33	4301	c.3636G>T	c.(3634-3636)atG>atT	p.M1212I	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1212					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTAGGTAGGTCATCGTCCCAT	0.507																																					p.M1212I		.											.	PHKA2-131	0			c.G3636T						.						210.0	196.0	201.0					X																	18911675		2203	4300	6503	SO:0001583	missense	5256	exon33			GTAGGTCATCGTC		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3636G>T	X.37:g.18911675C>A	ENSP00000369274:p.Met1212Ile	155	0		231	103	NM_000292	0	0	0	0	0	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802722	0.70682	.	.	ENSG00000044446	ENST00000379942	T	0.81415	-1.49	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.76574	2.34	0.80722	D	1	B	0.24920	0.114	B	0.33690	0.168	T	0.80054	-0.1543	10	0.42905	T	0.14	-31.6938	19.5561	0.95349	0.0:1.0:0.0:0.0	.	1212	P46019	KPB2_HUMAN	I	1212	ENSP00000369274:M1212I	ENSP00000369274:M1212I	M	-	3	0	PHKA2	18821596	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	7.400000	0.79949	2.574000	0.86865	0.600000	0.82982	ATG	.		0.507	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	
PHKA2	5256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	18942242	18942242	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:18942242G>A	ENST00000379942.4	-	17	2390	c.1725C>T	c.(1723-1725)ggC>ggT	p.G575G		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	575					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GAATGTCTGAGCCATCATTTG	0.338																																					p.G575G		.											.	PHKA2-131	0			c.C1725T						.						67.0	71.0	69.0					X																	18942242		2203	4299	6502	SO:0001819	synonymous_variant	5256	exon17			GTCTGAGCCATCA		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1725C>T	X.37:g.18942242G>A		286	1		352	133	NM_000292	0	0	0	0	0	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	CCDS14190.1																																																																																			.		0.338	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	
GPR64	10149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	19046318	19046318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:19046318C>A	ENST00000379869.3	-	10	560	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	GPR64_ENST00000379873.2_Nonsense_Mutation_p.E133*|GPR64_ENST00000379878.3_Nonsense_Mutation_p.E117*|GPR64_ENST00000379876.1_Nonsense_Mutation_p.E109*|GPR64_ENST00000356606.4_Nonsense_Mutation_p.E119*|GPR64_ENST00000357544.3_Nonsense_Mutation_p.E103*|GPR64_ENST00000357991.3_Nonsense_Mutation_p.E130*|GPR64_ENST00000340581.3_Nonsense_Mutation_p.E103*|GPR64_ENST00000360279.4_Nonsense_Mutation_p.E111*|GPR64_ENST00000354791.3_Nonsense_Mutation_p.E117*	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	133					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					ACAGTGCTTTCTTTATCATAT	0.264																																					p.E133X		.											.	GPR64-130	0			c.G397T						.						44.0	45.0	45.0					X																	19046318		2190	4254	6444	SO:0001587	stop_gained	10149	exon10			TGCTTTCTTTATC	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.397G>T	X.37:g.19046318C>A	ENSP00000369198:p.Glu133*	153	0		147	46	NM_001184834	0	0	0	0	0	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Nonsense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185910	0.57909	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581;ENST00000397917	.	.	.	6.16	5.3	0.74995	.	0.222774	0.31312	N	0.007864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.568	0.56320	0.0:0.8387:0.1613:0.0	.	.	.	.	X	133;117;117;109;103;133;111;130;119;103;56	.	ENSP00000344972:E103X	E	-	1	0	GPR64	18956239	0.997000	0.39634	0.361000	0.25849	0.062000	0.15995	2.158000	0.42329	1.335000	0.45486	0.594000	0.82650	GAA	.		0.264	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		
SUPT20HL1	100130302	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	X	24383063	24383063	+	IGR	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:24383063C>A								AC004552.1 (16040 upstream) : PDK3 (100274 downstream)																							CAGGGTTCCGCACTAGGTTTG	0.632																																					p.A729E		.											.	.	0			c.C2186A						.						37.0	37.0	37.0					X																	24383063		1568	3582	5150	SO:0001628	intergenic_variant	100130302	exon1			GTTCCGCACTAGG																													X.37:g.24383063C>A		475	2		320	170	NM_001136234	0	0	0	0	0		Missense_Mutation	SNP		37																																																																																				.	0	0.632								
SUPT20HL1	100130302	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	24383065	24383065	+	IGR	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:24383065C>A								AC004552.1 (16042 upstream) : PDK3 (100272 downstream)																							GGGTTCCGCACTAGGTTTGAG	0.637																																					p.L730I		.											.	.	0			c.C2188A						.						36.0	36.0	36.0					X																	24383065		1568	3582	5150	SO:0001628	intergenic_variant	100130302	exon1			TCCGCACTAGGTT																													X.37:g.24383065C>A		479	1		320	171	NM_001136234	0	0	0	0	0		Missense_Mutation	SNP		37																																																																																				.	0	0.637								
MAGEB6	158809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	26212653	26212653	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:26212653G>T	ENST00000379034.1	+	2	839	c.690G>T	c.(688-690)aaG>aaT	p.K230N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	230	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GAGAGTACAAGCCCTACTTCC	0.502																																					p.K230N		.											.	MAGEB6-133	0			c.G690T						.						80.0	65.0	70.0					X																	26212653		2202	4300	6502	SO:0001583	missense	158809	exon2			GTACAAGCCCTAC	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.690G>T	X.37:g.26212653G>T	ENSP00000368320:p.Lys230Asn	208	0		126	66	NM_173523	0	0	0	0	0	Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832917	0.32421	.	.	ENSG00000176746	ENST00000379034	T	0.05996	3.36	3.1	1.28	0.21552	.	0.126462	0.50627	U	0.000109	T	0.20333	0.0489	M	0.90650	3.135	0.09310	N	1	D	0.53745	0.962	P	0.60286	0.872	T	0.07009	-1.0795	10	0.87932	D	0	.	3.7894	0.08713	0.1495:0.2507:0.5997:0.0	.	230	Q8N7X4	MAGB6_HUMAN	N	230	ENSP00000368320:K230N	ENSP00000368320:K230N	K	+	3	2	MAGEB6	26122574	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.285000	0.08410	0.209000	0.20645	-0.199000	0.12753	AAG	.		0.502	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523	
MAGEB6	158809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	26212780	26212780	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:26212780G>T	ENST00000379034.1	+	2	966	c.817G>T	c.(817-819)Gaa>Taa	p.E273*		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	273	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCTCCCCAGTGAAGGAATTCT	0.527																																					p.E273X		.											.	MAGEB6-133	0			c.G817T						.						109.0	96.0	100.0					X																	26212780		2202	4300	6502	SO:0001587	stop_gained	158809	exon2			CCCAGTGAAGGAA	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.817G>T	X.37:g.26212780G>T	ENSP00000368320:p.Glu273*	167	0		123	64	NM_173523	0	0	0	0	0	Q6GS19|Q9H219	Nonsense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408111	0.62399	.	.	ENSG00000176746	ENST00000379034	.	.	.	3.29	0.562	0.17290	.	0.480577	0.18328	U	0.144564	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.3056	0.15801	0.4073:0.0:0.5927:0.0	.	.	.	.	X	273	.	ENSP00000368320:E273X	E	+	1	0	MAGEB6	26122701	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.253000	0.08794	-0.006000	0.14370	0.594000	0.82650	GAA	.		0.527	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523	
DCAF8L1	139425	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	27998833	27998833	+	Missense_Mutation	SNP	G	G	T	rs148833488		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:27998833G>T	ENST00000441525.1	-	1	733	c.619C>A	c.(619-621)Cgt>Agt	p.R207S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	207										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CGGGTGCCACGCTGGTTAAAG	0.532																																					p.R207S		.											.	DCAF8L1-112	0			c.C619A						.						34.0	27.0	29.0					X																	27998833		2202	4299	6501	SO:0001583	missense	139425	exon1			TGCCACGCTGGTT		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.619C>A	X.37:g.27998833G>T	ENSP00000405222:p.Arg207Ser	238	0		184	93	NM_001017930	0	0	0	0	0	B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	G	1.652	-0.513691	0.04200	.	.	ENSG00000226372	ENST00000441525	T	0.79749	-1.3	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.411149	0.24386	N	0.038978	T	0.44932	0.1317	N	0.00855	-1.145	0.24258	N	0.995294	B	0.24618	0.107	B	0.24155	0.051	T	0.43442	-0.9391	10	0.23302	T	0.38	-2.5187	3.8222	0.08841	0.0:1.0E-4:0.5772:0.4227	.	207	A6NGE4	DC8L1_HUMAN	S	207	ENSP00000405222:R207S	ENSP00000405222:R207S	R	-	1	0	DCAF8L1	27908754	1.000000	0.71417	0.901000	0.35422	0.297000	0.27493	1.344000	0.33941	0.691000	0.31592	0.284000	0.19432	CGT	G|1.000;A|0.000		0.532	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
MAGEB1	4112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	30268640	30268640	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:30268640T>A	ENST00000378981.3	+	4	351	c.30T>A	c.(28-30)cgT>cgA	p.R10R	MAGEB1_ENST00000397550.1_Silent_p.R10R|MAGEB1_ENST00000397548.2_Silent_p.R10R	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	10										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GTAAGCTCCGTGCTCGTGAGA	0.592																																					p.R10R		.											.	MAGEB1-130	0			c.T30A						.						42.0	33.0	36.0					X																	30268640		2202	4300	6502	SO:0001819	synonymous_variant	4112	exon3			GCTCCGTGCTCGT		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.30T>A	X.37:g.30268640T>A		377	0		271	143	NM_177415	0	0	0	0	0	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	CCDS14222.1																																																																																			.		0.592	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363	
TAB3	257397	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	30849617	30849617	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:30849617C>A	ENST00000378933.1	-	8	2243	c.2066G>T	c.(2065-2067)tGt>tTt	p.C689F	TAB3_ENST00000378932.2_Missense_Mutation_p.C661F|TAB3_ENST00000378930.3_Missense_Mutation_p.C689F|TAB3_ENST00000288422.2_Missense_Mutation_p.C689F	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	689					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCAGCTATCACAATTCCATGG	0.517																																					p.C689F	Pancreas(164;1598 1985 29022 43301 49529)	.											.	TAB3-131	0			c.G2066T						.						144.0	97.0	113.0					X																	30849617		2202	4300	6502	SO:0001583	missense	257397	exon11			CTATCACAATTCC	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.2066G>T	X.37:g.30849617C>A	ENSP00000368215:p.Cys689Phe	164	0		164	32	NM_152787	0	0	0	0	0	A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882464	0.72294	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.64	5.64	0.86602	Zinc finger, RanBP2-type (3);	0.043571	0.85682	D	0.000000	D	0.87067	0.6085	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.994	D	0.88435	0.3038	10	0.87932	D	0	-3.2411	18.7077	0.91644	0.0:1.0:0.0:0.0	.	661;689	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	F	689;689;689;661	ENSP00000368215:C689F;ENSP00000368212:C689F;ENSP00000288422:C689F;ENSP00000368214:C661F	ENSP00000288422:C689F	C	-	2	0	TAB3	30759538	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.362000	0.80069	0.600000	0.82982	TGT	.		0.517	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787	
FTHL17	53940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	31090008	31090008	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:31090008G>C	ENST00000359202.3	-	1	162	c.63C>G	c.(61-63)atC>atG	p.I21M		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	21	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TGTGGCTGTTGATGGCGGCGT	0.632																																					p.I21M		.											.	FTHL17-130	0			c.C63G						.						66.0	56.0	60.0					X																	31090008		2202	4295	6497	SO:0001583	missense	53940	exon1			GCTGTTGATGGCG	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.63C>G	X.37:g.31090008G>C	ENSP00000368207:p.Ile21Met	305	0		566	131	NM_031894	0	0	0	0	0	Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841051	0.51057	.	.	ENSG00000132446	ENST00000359202	T	0.62788	0.0	3.55	1.66	0.24008	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.360890	0.27563	N	0.018813	T	0.67674	0.2918	L	0.48642	1.525	0.40323	D	0.978841	P	0.49090	0.919	P	0.60789	0.879	T	0.68032	-0.5516	10	0.72032	D	0.01	.	10.5044	0.44826	0.0:0.3707:0.6293:0.0	.	21	Q9BXU8	FHL17_HUMAN	M	21	ENSP00000368207:I21M	ENSP00000368207:I21M	I	-	3	3	FTHL17	30999929	1.000000	0.71417	0.001000	0.08648	0.014000	0.08584	1.910000	0.39927	0.305000	0.22832	0.538000	0.68166	ATC	.		0.632	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894	
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	31222119	31222119	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:31222119C>T	ENST00000357033.4	-	67	9972	c.9766G>A	c.(9766-9768)Ggc>Agc	p.G3256S	DMD_ENST00000359836.1_Missense_Mutation_p.G796S|DMD_ENST00000378707.3_Missense_Mutation_p.G796S|DMD_ENST00000378677.2_Missense_Mutation_p.G3252S|DMD_ENST00000541735.1_Missense_Mutation_p.G796S|DMD_ENST00000474231.1_Missense_Mutation_p.G796S|DMD_ENST00000378680.2_Missense_Mutation_p.G188S|DMD_ENST00000378723.3_Missense_Mutation_p.G188S|DMD_ENST00000378702.4_Missense_Mutation_p.G188S|DMD_ENST00000361471.4_Missense_Mutation_p.G188S|DMD_ENST00000343523.2_Missense_Mutation_p.G796S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3256	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGTTACTGCCCCCAAAGGAT	0.413																																					p.G3256S		.											.	DMD-265	0			c.G9766A						.						66.0	57.0	60.0					X																	31222119		2202	4300	6502	SO:0001583	missense	1756	exon67			TACTGCCCCCAAA	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9766G>A	X.37:g.31222119C>T	ENSP00000354923:p.Gly3256Ser	234	0		220	50	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.462748|5.462748	0.96257|0.96257	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	T|T;T;T;T;T;T;T;T;T;T;T;T;T	0.77750|0.72942	-1.12|-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.35|5.35	5.35|5.35	0.76521|0.76521	.|EF-hand domain, type 2 (1);	0.000000|0.000000	0.37809|0.37809	U|U	0.001922|0.001922	D|D	0.85305|0.85305	0.5666|0.5666	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;0.997;1.0;1.0;1.0;1.0;0.999;0.968;0.968;1.0;1.0;0.993;1.0;1.0;0.995;1.0	.|D;D;D;D;D;D;D;P;P;D;D;D;D;D;D;D	.|0.97110	.|0.998;0.993;1.0;1.0;1.0;1.0;0.993;0.878;0.9;1.0;1.0;0.967;0.998;0.999;0.962;1.0	D|D	0.87242|0.87242	0.2267|0.2267	7|10	.|0.87932	.|D	.|0	.|.	18.1204|18.1204	0.89569|0.89569	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|188;3248;3256;3252;1915;1912;796;796;796;796;796;3133;188;188;188;188	.|B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	E|S	984|3248;1915;1912;188;952;3252;3256;796;796;3256;3133;796;796;188;796;188;188;46	ENSP00000420046:G984E|ENSP00000367997:G188S;ENSP00000350765:G952S;ENSP00000367948:G3252S;ENSP00000354923:G3256S;ENSP00000352894:G796S;ENSP00000340057:G796S;ENSP00000367979:G796S;ENSP00000444119:G796S;ENSP00000367974:G188S;ENSP00000417123:G796S;ENSP00000354464:G188S;ENSP00000367951:G188S;ENSP00000367977:G46S	.|ENSP00000340057:G796S	G|G	-|-	2|1	0|0	DMD|DMD	31132040|31132040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.651000|7.651000	0.83577|0.83577	2.471000|2.471000	0.83476|0.83476	0.600000|0.600000	0.82982|0.82982	GGG|GGC	.		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	X	31514988	31514988	+	Missense_Mutation	SNP	G	G	T	rs398124073		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:31514988G>T	ENST00000357033.4	-	57	8670	c.8464C>A	c.(8464-8466)Cag>Aag	p.Q2822K	DMD_ENST00000359836.1_Missense_Mutation_p.Q362K|DMD_ENST00000541735.1_Missense_Mutation_p.Q362K|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Missense_Mutation_p.Q362K|DMD_ENST00000378677.2_Missense_Mutation_p.Q2818K|DMD_ENST00000378707.3_Missense_Mutation_p.Q362K|DMD_ENST00000474231.1_Missense_Mutation_p.Q362K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2822					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTTCAGCTGTAGCCACACC	0.488													G|||	7	0.0018543	0.0008	0.0043	3775	,	,		12517	0.002		0.001	False		,,,				2504	0.0				p.Q2822K		.											.	DMD-265	0			c.C8464A						.						64.0	50.0	55.0					X																	31514988		2202	4300	6502	SO:0001583	missense	1756	exon57			TCAGCTGTAGCCA	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8464C>A	X.37:g.31514988G>T	ENSP00000354923:p.Gln2822Lys	219	1		199	93	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.054006|3.054006	0.55218|0.55218	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.35320|.	U|.	0.003281|.	T|T	0.70806|0.70806	0.3266|0.3266	L|L	0.51422|0.51422	1.61|1.61	0.47308|0.47308	D|D	0.999387|0.999387	B;P;P;P;P;B;B;B;P;P;B|.	0.49447|.	0.234;0.69;0.924;0.69;0.69;0.026;0.138;0.138;0.69;0.794;0.411|.	B;B;P;B;B;B;B;B;B;B;B|.	0.62298|.	0.075;0.164;0.9;0.164;0.164;0.089;0.065;0.065;0.164;0.31;0.242|.	T|T	0.66787|0.66787	-0.5835|-0.5835	10|5	0.06099|.	T|.	0.92|.	.|.	19.1264|19.1264	0.93386|0.93386	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2814;2822;2818;1481;1478;362;362;362;362;362;2699|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	K|K	2814;1481;1478;518;2818;2822;362;362;2822;2699;362;362;362|550	ENSP00000350765:Q518K;ENSP00000367948:Q2818K;ENSP00000354923:Q2822K;ENSP00000352894:Q362K;ENSP00000340057:Q362K;ENSP00000367979:Q362K;ENSP00000444119:Q362K;ENSP00000417123:Q362K|.	ENSP00000340057:Q362K|.	Q|T	-|-	1|2	0|0	DMD|DMD	31424909|31424909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.978000|5.978000	0.70501|0.70501	2.466000|2.466000	0.83321|0.83321	0.594000|0.594000	0.82650|0.82650	CAG|ACA	.		0.488	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
FAM47B	170062	ucsc.edu;bcgsc.ca	37	X	34960969	34960969	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:34960969G>T	ENST00000329357.5	+	1	57	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	7										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAGGCCACAGGACCGGCCAA	0.627																																					p.Q7H		.											.	FAM47B-196	0			c.G21T						.						24.0	20.0	21.0					X																	34960969		2202	4297	6499	SO:0001583	missense	170062	exon1			GCCACAGGACCGG	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.21G>T	X.37:g.34960969G>T	ENSP00000328307:p.Gln7His	368	4		271	162	NM_152631	0	0	0	0	0	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351109	0.24512	.	.	ENSG00000189132	ENST00000329357	T	0.18810	2.19	1.01	1.01	0.19927	.	.	.	.	.	T	0.28532	0.0706	M	0.69823	2.125	0.09310	N	1	D	0.59767	0.986	P	0.51135	0.66	T	0.11470	-1.0586	9	0.46703	T	0.11	.	5.0696	0.14600	0.0:0.0:1.0:0.0	.	7	Q8NA70	FA47B_HUMAN	H	7	ENSP00000328307:Q7H	ENSP00000328307:Q7H	Q	+	3	2	FAM47B	34870890	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.364000	0.20325	0.794000	0.33899	0.468000	0.43344	CAG	.		0.627	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
FAM47B	170062	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	34961915	34961915	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:34961915C>A	ENST00000329357.5	+	1	1003	c.967C>A	c.(967-969)Cct>Act	p.P323T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	323	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTGCCCGGAGCCTCCCGAGGC	0.582																																					p.P323T		.											.	FAM47B-196	0			c.C967A						.						55.0	53.0	54.0					X																	34961915		2202	4300	6502	SO:0001583	missense	170062	exon1			CCGGAGCCTCCCG	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.967C>A	X.37:g.34961915C>A	ENSP00000328307:p.Pro323Thr	120	1		80	43	NM_152631	0	0	0	0	0	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181498	0.21787	.	.	ENSG00000189132	ENST00000329357	T	0.22539	1.95	0.235	0.235	0.15431	.	.	.	.	.	T	0.38427	0.1040	M	0.78801	2.425	0.23162	N	0.998195	D	0.69078	0.997	D	0.65010	0.931	T	0.12915	-1.0529	9	0.41790	T	0.15	.	6.1977	0.20559	0.0:0.9996:0.0:3.0E-4	.	323	Q8NA70	FA47B_HUMAN	T	323	ENSP00000328307:P323T	ENSP00000328307:P323T	P	+	1	0	FAM47B	34871836	0.988000	0.35896	0.152000	0.22495	0.155000	0.21991	1.000000	0.29770	0.288000	0.22398	0.292000	0.19580	CCT	.		0.582	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
CXorf22	170063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	35971805	35971805	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:35971805T>G	ENST00000297866.5	+	7	1209	c.1143T>G	c.(1141-1143)ttT>ttG	p.F381L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	381										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAGATGGATTTTTGAGAGATG	0.323																																					p.F381L		.											.	CXorf22-131	0			c.T1143G						.						76.0	70.0	72.0					X																	35971805		2202	4298	6500	SO:0001583	missense	170063	exon7			TGGATTTTTGAGA	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1143T>G	X.37:g.35971805T>G	ENSP00000297866:p.Phe381Leu	247	0		163	36	NM_152632	0	0	0	0	0	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802924	0.50315	.	.	ENSG00000165164	ENST00000297866	T	0.54866	0.55	5.69	5.69	0.88448	.	0.104827	0.64402	D	0.000003	T	0.62344	0.2420	M	0.64404	1.975	0.31296	N	0.688908	D	0.63046	0.992	P	0.61658	0.892	T	0.61402	-0.7070	10	0.07325	T	0.83	-10.8843	13.6367	0.62227	0.0:0.0:0.0:1.0	.	381	Q6ZTR5	CX022_HUMAN	L	381	ENSP00000297866:F381L	ENSP00000297866:F381L	F	+	3	2	CXorf22	35881726	0.999000	0.42202	0.664000	0.29753	0.044000	0.14063	1.377000	0.34317	1.905000	0.55150	0.441000	0.28932	TTT	.		0.323	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
CXorf30	645090	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	36319291	36319291	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:36319291G>T	ENST00000378657.4	+	7	953	c.305G>T	c.(304-306)gGc>gTc	p.G102V		NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	102										breast(1)|lung(2)|stomach(1)	4						TGCGACCTTGGCAAGTAAGTT	0.308																																					p.G102V		.											.	CXorf30-62	0			c.G305T						.						129.0	109.0	115.0					X																	36319291		692	1591	2283	SO:0001583	missense	645090	exon8			ACCTTGGCAAGTA		CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.305G>T	X.37:g.36319291G>T	ENSP00000367926:p.Gly102Val	237	2		172	96	NM_001098843	0	0	0	0	0		Missense_Mutation	SNP	ENST00000378657.4	37	CCDS55396.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927228	0.34002	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.81163	-1.46;-0.11	5.49	4.62	0.57501	.	.	.	.	.	T	0.82195	0.4984	L	0.27053	0.805	0.43936	D	0.996591	D	0.71674	0.998	D	0.71184	0.972	D	0.83480	0.0064	9	0.87932	D	0	.	11.7245	0.51702	0.0:0.0:0.8234:0.1766	.	102	A6PW82	CX030_HUMAN	V	387;102	ENSP00000367922:G387V;ENSP00000367926:G102V	ENSP00000367922:G387V	G	+	2	0	CXorf30	36229212	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.190000	0.58365	1.045000	0.40225	-0.245000	0.11935	GGC	.		0.308	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NP_001092313	
FAM47C	442444	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	37027035	37027035	+	Silent	SNP	G	G	T	rs61730915	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:37027035G>T	ENST00000358047.3	+	1	604	c.552G>T	c.(550-552)ggG>ggT	p.G184G		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	184										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACCCCTGTGGGGAATTCTCCC	0.642																																					p.G184G		.											.	FAM47C-111	0			c.G552T						.						33.0	33.0	33.0					X																	37027035		2202	4300	6502	SO:0001819	synonymous_variant	442444	exon1			CTGTGGGGAATTC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.552G>T	X.37:g.37027035G>T		93	0		71	49	NM_001013736	0	0	0	0	0	Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																			G|0.992;A|0.008		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
FAM47C	442444	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	37028109	37028109	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:37028109C>A	ENST00000358047.3	+	1	1678	c.1626C>A	c.(1624-1626)agC>agA	p.S542R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	542										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTGAGAGTAGCGTATCTCATC	0.622																																					p.S542R		.											.	FAM47C-111	0			c.C1626A						.						81.0	83.0	83.0					X																	37028109		2202	4300	6502	SO:0001583	missense	442444	exon1			GAGTAGCGTATCT	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1626C>A	X.37:g.37028109C>A	ENSP00000367913:p.Ser542Arg	117	1		92	41	NM_001013736	0	0	0	0	0	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	0.044	-1.271640	0.01421	.	.	ENSG00000198173	ENST00000358047	T	0.12039	2.72	1.66	-2.04	0.07343	.	.	.	.	.	T	0.02807	0.0084	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46034	-0.9220	9	0.12430	T	0.62	.	4.4194	0.11472	0.2407:0.5208:0.2385:0.0	.	542	Q5HY64	FA47C_HUMAN	R	542	ENSP00000367913:S542R	ENSP00000367913:S542R	S	+	3	2	FAM47C	36938030	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.245000	0.02899	-0.079000	0.12707	-0.783000	0.03347	AGC	.		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
USP9X	8239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	41025466	41025466	+	Splice_Site	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:41025466G>C	ENST00000324545.8	+	16	2960	c.2327G>C	c.(2326-2328)aGg>aCg	p.R776T	USP9X_ENST00000378308.2_Splice_Site_p.R776T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	776					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TACCTTTGGAGGGTAAGTCAA	0.343																																					p.R776T	Ovarian(172;1807 2695 35459 49286)	.											.	USP9X-563	0			c.G2327C						.						37.0	34.0	35.0					X																	41025466		2013	4187	6200	SO:0001630	splice_region_variant	8239	exon16			TTTGGAGGGTAAG	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2328+1G>C	X.37:g.41025466G>C		48	0		48	30	NM_001039591	0	0	0	0	0	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463621	0.84425	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.66460	-0.21;-0.21	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.68593	2.085	0.80722	D	1	D;P	0.55800	0.973;0.921	P;P	0.56434	0.798;0.535	T	0.79773	-0.1662	10	0.56958	D	0.05	.	17.7657	0.88477	0.0:0.0:1.0:0.0	.	776;776	Q93008-1;Q93008	.;USP9X_HUMAN	T	776	ENSP00000367558:R776T;ENSP00000316357:R776T	ENSP00000316357:R776T	R	+	2	0	USP9X	40910410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.694000	0.98686	2.213000	0.71641	0.600000	0.82982	AGG	.		0.343	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Missense_Mutation
CHST7	56548	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	46433693	46433693	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:46433693C>A	ENST00000276055.3	+	1	475	c.327C>A	c.(325-327)acC>acA	p.T109T		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	109					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TGCATGCCACCTGGCGCACCG	0.607																																					p.T109T		.											.	CHST7-133	0			c.C327A						.						37.0	32.0	34.0					X																	46433693		2203	4300	6503	SO:0001819	synonymous_variant	56548	exon1			TGCCACCTGGCGC	AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"""Sulfotransferases, membrane-bound"""	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.327C>A	X.37:g.46433693C>A		138	2		185	39	NM_019886	0	0	0	0	0	O75667	Silent	SNP	ENST00000276055.3	37	CCDS14268.1																																																																																			.		0.607	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056362.1	NM_019886	
SLC9A7	84679	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	46541866	46541866	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:46541866C>A	ENST00000328306.4	-	2	455	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	144					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTGACATTCACTAATAAGGTA	0.493																																					p.V144L	Pancreas(118;454 1696 1930 13865 39976)	.											.	SLC9A7-132	0			c.G430T						.						97.0	74.0	82.0					X																	46541866		2203	4300	6503	SO:0001583	missense	84679	exon2			CATTCACTAATAA	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.430G>T	X.37:g.46541866C>A	ENSP00000330320:p.Val144Leu	152	0		133	22	NM_001257291	0	0	0	0	0	O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067871	0.55539	.	.	ENSG00000065923	ENST00000328306	T	0.56941	0.43	5.96	5.96	0.96718	Cation/H+ exchanger (1);	0.075228	0.53938	D	0.000049	T	0.38665	0.1049	N	0.11313	0.125	0.58432	D	0.999999	B	0.13594	0.008	B	0.23150	0.044	T	0.15093	-1.0449	10	0.27785	T	0.31	.	19.3572	0.94420	0.0:1.0:0.0:0.0	.	144	Q96T83	SL9A7_HUMAN	L	144	ENSP00000330320:V144L	ENSP00000330320:V144L	V	-	1	0	SLC9A7	46426810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.075000	0.71261	2.524000	0.85096	0.600000	0.82982	GTG	.		0.493	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591	
NDUFB11	54539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	47002022	47002022	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:47002022G>T	ENST00000377811.3	-	2	1153	c.329C>A	c.(328-330)cCt>cAt	p.P110H	RBM10_ENST00000345781.6_5'Flank|RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000377604.3_5'Flank|NDUFB11_ENST00000276062.8_Missense_Mutation_p.P110H	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	110					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CCTGTAGTCAGGCAGATAGGC	0.552																																					p.P110H	Ovarian(77;454 1296 7908 21551 37072)	.											.	NDUFB11-130	0			c.C329A						.						138.0	98.0	111.0					X																	47002022		2203	4300	6503	SO:0001583	missense	54539	exon2			TAGTCAGGCAGAT	AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"""Mitochondrial respiratory chain complex / Complex I"""	20372	protein-coding gene	gene with protein product	"""complex I NP17.3 subunit"""	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.329C>A	X.37:g.47002022G>T	ENSP00000367042:p.Pro110His	221	0		202	48	NM_019056	0	0	0	0	0	Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	ENST00000377811.3	37	CCDS48100.1	.	.	.	.	.	.	.	.	.	.	g	18.20	3.572347	0.65765	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	M	0.86420	2.815	0.50039	D	0.999844	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.83285	-0.0036	9	0.87932	D	0	-10.044	11.4976	0.50417	0.0:0.0:1.0:0.0	.	110;110	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	H	110;114;110	.	ENSP00000276062:P110H	P	-	2	0	NDUFB11	46886966	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.321000	0.65846	1.992000	0.58205	0.415000	0.27848	CCT	.		0.552	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056382.1	NM_019056	
NDUFB11	54539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	47002127	47002127	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:47002127C>A	ENST00000377811.3	-	2	1048	c.224G>T	c.(223-225)gGt>gTt	p.G75V	RBM10_ENST00000345781.6_5'Flank|RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000377604.3_5'Flank|NDUFB11_ENST00000276062.8_Missense_Mutation_p.G75V	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	75					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CTTGTCATAACCATGGGAGTC	0.517																																					p.G75V	Ovarian(77;454 1296 7908 21551 37072)	.											.	NDUFB11-130	0			c.G224T						.						149.0	123.0	132.0					X																	47002127		2203	4300	6503	SO:0001583	missense	54539	exon2			TCATAACCATGGG	AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"""Mitochondrial respiratory chain complex / Complex I"""	20372	protein-coding gene	gene with protein product	"""complex I NP17.3 subunit"""	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.224G>T	X.37:g.47002127C>A	ENSP00000367042:p.Gly75Val	322	0		253	48	NM_019056	0	0	0	0	0	Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	ENST00000377811.3	37	CCDS48100.1	.	.	.	.	.	.	.	.	.	.	c	17.91	3.505069	0.64410	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.80082	0.4558	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83477	0.0062	9	0.87932	D	0	-10.8043	11.7664	0.51933	0.0:1.0:0.0:0.0	.	75;75	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	V	75;79;75	.	ENSP00000276062:G75V	G	-	2	0	NDUFB11	46887071	1.000000	0.71417	0.040000	0.18447	0.946000	0.59487	5.582000	0.67477	2.061000	0.61500	0.538000	0.68166	GGT	.		0.517	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056382.1	NM_019056	
RBM10	8241	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	47032530	47032530	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:47032530C>A	ENST00000377604.3	+	5	1178	c.436C>A	c.(436-438)Cgt>Agt	p.R146S	RBM10_ENST00000345781.6_Missense_Mutation_p.R69S|RBM10_ENST00000329236.7_Missense_Mutation_p.R69S	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	146	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CGTATAGATCCGTGGCCAGCT	0.607																																					p.R211S	Melanoma(171;120 2705 19495 39241)	.											.	RBM10-626	0			c.C631A						.						84.0	68.0	73.0					X																	47032530		2203	4300	6503	SO:0001583	missense	8241	exon5			TAGATCCGTGGCC	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.436C>A	X.37:g.47032530C>A	ENSP00000366829:p.Arg146Ser	121	1		137	25	NM_001204468	0	0	0	0	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873747	0.72180	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.09911	2.93;3.16;3.16	3.81	3.81	0.43845	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.081577	0.51477	D	0.000094	T	0.30916	0.0780	M	0.79475	2.455	0.39956	D	0.974601	D;D;D;D;D;D	0.89917	0.994;0.99;0.999;0.99;0.99;1.0	D;D;D;P;D;D	0.79784	0.932;0.973;0.972;0.839;0.912;0.993	T	0.11203	-1.0597	10	0.66056	D	0.02	-5.5319	10.7407	0.46152	0.0:1.0:0.0:0.0	.	69;211;146;69;146;18	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175;Q6PKH5	.;.;.;.;RBM10_HUMAN;.	S	146;69;69	ENSP00000366829:R146S;ENSP00000328848:R69S;ENSP00000329659:R69S	ENSP00000328848:R69S	R	+	1	0	RBM10	46917474	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	6.328000	0.72915	1.641000	0.50575	0.436000	0.28706	CGT	.		0.607	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	
ZNF81	347344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	47705685	47705685	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:47705685G>T	ENST00000376954.1	+	3	387	c.19G>T	c.(19-21)Gct>Tct	p.A7S	ZNF81_ENST00000483520.1_3'UTR|ZNF81_ENST00000338637.7_Missense_Mutation_p.A7S|ZNF81_ENST00000334937.4_Missense_Mutation_p.A7S			P51508	ZNF81_HUMAN	zinc finger protein 81	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TAACGAGGACGCTCCCCAGCC	0.557																																					p.A7S		.											.	ZNF81-130	0			c.G19T						.						36.0	38.0	37.0					X																	47705685		2007	4152	6159	SO:0001583	missense	347344	exon2			GAGGACGCTCCCC	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.19G>T	X.37:g.47705685G>T	ENSP00000366153:p.Ala7Ser	82	0		89	24	NM_007137	0	0	0	0	0	Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130019	0.01756	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000334937;ENST00000376950;ENST00000399918	T;T;T;T	0.05717	3.4;3.4;4.83;5.76	3.56	-4.31	0.03698	.	.	.	.	.	T	0.01353	0.0044	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47018	-0.9149	9	0.07482	T	0.82	.	8.296	0.31986	0.1428:0.0:0.6385:0.2188	.	7	P51508	ZNF81_HUMAN	S	7	ENSP00000366153:A7S;ENSP00000341151:A7S;ENSP00000334641:A7S;ENSP00000366149:A7S	ENSP00000334641:A7S	A	+	1	0	ZNF81	47590629	0.000000	0.05858	0.000000	0.03702	0.297000	0.27493	-0.617000	0.05584	-1.020000	0.03354	-1.570000	0.00873	GCT	.		0.557	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137	
ZNF630	57232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	47919260	47919260	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:47919260A>T	ENST00000409324.3	-	5	797	c.571T>A	c.(571-573)Tta>Ata	p.L191I	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.L177I|ZNF630_ENST00000276054.4_Missense_Mutation_p.L67I	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TAATTTAGTAAGTCTGAATTA	0.373																																					p.L191I		.											.	ZNF630-131	0			c.T571A						.						51.0	44.0	46.0					X																	47919260		2194	4288	6482	SO:0001583	missense	57232	exon5			TTAGTAAGTCTGA	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.571T>A	X.37:g.47919260A>T	ENSP00000386393:p.Leu191Ile	43	0		34	10	NM_001037735	0	0	0	0	0	F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	6.806	0.517718	0.13005	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324;ENST00000428686	T;T;T;T	0.09538	2.97;2.98;3.06;4.75	2.35	2.35	0.29111	.	.	.	.	.	T	0.14442	0.0349	M	0.70787	2.145	0.09310	N	1	P	0.50819	0.939	B	0.42738	0.396	T	0.14392	-1.0474	9	0.87932	D	0	.	7.7652	0.28976	1.0:0.0:0.0:0.0	.	191	Q2M218	ZN630_HUMAN	I	177;67;191;191	ENSP00000393163:L177I;ENSP00000354683:L67I;ENSP00000386393:L191I;ENSP00000407278:L191I	ENSP00000354683:L67I	L	-	1	2	ZNF630	47804204	0.004000	0.15560	0.002000	0.10522	0.023000	0.10783	1.724000	0.38064	0.980000	0.38523	0.441000	0.28932	TTA	.		0.373	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735	
SLC38A5	92745	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	48319044	48319044	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48319044C>A	ENST00000376876.3	-	13	1902	c.1059G>T	c.(1057-1059)gtG>gtT	p.V353V	SLC38A5_ENST00000317669.5_Silent_p.V353V|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Silent_p.V302V			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	353					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CAGGGAACAGCACGACTGGCA	0.617																																					p.V353V		.											.	SLC38A5-133	0			c.G1059T						.						88.0	59.0	69.0					X																	48319044		2203	4300	6503	SO:0001819	synonymous_variant	92745	exon14			GAACAGCACGACT	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1059G>T	X.37:g.48319044C>A		152	1		172	37	NM_033518	0	0	0	0	0	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP	ENST00000376876.3	37	CCDS14293.1																																																																																			.		0.617	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518	
WAS	7454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	48547809	48547809	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48547809C>T	ENST00000376701.4	+	11	1514	c.1439C>T	c.(1438-1440)gCc>gTc	p.A480V		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	480					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGAAGCAGAGCCATCCACTCC	0.627			"""Mis, N, F, S"""			lymphoma																															p.A480V		.		X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	.	WAS-563	0			c.C1439T						.						31.0	32.0	31.0					X																	48547809		2203	4299	6502	SO:0001583	missense	7454	exon11			GCAGAGCCATCCA	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.1439C>T	X.37:g.48547809C>T	ENSP00000365891:p.Ala480Val	360	0		342	75	NM_000377	0	0	0	0	0	Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.305031	0.23736	.	.	ENSG00000015285	ENST00000376701	D	0.95137	-3.62	4.35	-1.44	0.08856	Wiscott-Aldrich syndrome, C-terminal (1);	0.401940	0.24256	N	0.040131	D	0.83422	0.5251	N	0.17278	0.47	0.28523	N	0.912951	B	0.02656	0.0	B	0.06405	0.002	T	0.70432	-0.4873	10	0.10902	T	0.67	-0.6557	5.092	0.14713	0.0:0.3761:0.1528:0.4712	.	480	P42768	WASP_HUMAN	V	480	ENSP00000365891:A480V	ENSP00000365891:A480V	A	+	2	0	WAS	48432753	0.818000	0.29161	0.114000	0.21550	0.824000	0.46624	-0.087000	0.11215	-0.253000	0.09514	-0.405000	0.06341	GCC	.		0.627	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377	
HDAC6	10013	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	48676461	48676461	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48676461G>T	ENST00000334136.5	+	21	2117	c.1939G>T	c.(1939-1941)Gat>Tat	p.D647Y	HDAC6_ENST00000444343.2_Missense_Mutation_p.D661Y|HDAC6_ENST00000376619.2_Missense_Mutation_p.D647Y			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	647	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCTGATTGTGGATTGGGATGT	0.597																																					p.D647Y	Pancreas(112;205 1675 2305 8976 15959)	.											.	HDAC6-230	0			c.G1939T						.						83.0	55.0	64.0					X																	48676461		2201	4294	6495	SO:0001583	missense	10013	exon21			ATTGTGGATTGGG	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1939G>T	X.37:g.48676461G>T	ENSP00000334061:p.Asp647Tyr	271	1		286	51	NM_006044	0	0	0	0	0	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246324	0.80024	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	D;D;D	0.95069	-3.6;-3.6;-3.6	5.35	5.35	0.76521	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	H	0.98936	4.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.99727	1.1011	10	0.87932	D	0	-21.9785	15.4029	0.74855	0.0:0.0:1.0:0.0	.	637;295;647	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	Y	661;647;647;647	ENSP00000398566:D661Y;ENSP00000334061:D647Y;ENSP00000365804:D647Y	ENSP00000334061:D647Y	D	+	1	0	HDAC6	48561405	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	9.009000	0.93606	2.229000	0.72834	0.600000	0.82982	GAT	.		0.597	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
HDAC6	10013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	48678641	48678641	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48678641C>A	ENST00000334136.5	+	23	2494	c.2316C>A	c.(2314-2316)ggC>ggA	p.G772G	HDAC6_ENST00000444343.2_Silent_p.G786G|HDAC6_ENST00000376619.2_Silent_p.G772G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	772	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TTGCCAGTGGCCGCATTATCC	0.572																																					p.G772G	Pancreas(112;205 1675 2305 8976 15959)	.											.	HDAC6-230	0			c.C2316A						.						71.0	56.0	61.0					X																	48678641		2203	4300	6503	SO:0001819	synonymous_variant	10013	exon23			CAGTGGCCGCATT	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2316C>A	X.37:g.48678641C>A		77	0		80	15	NM_006044	0	0	0	0	0	O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	CCDS14306.1																																																																																			.		0.572	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
OTUD5	55593	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	48814313	48814313	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48814313C>A	ENST00000156084.4	-	1	580	c.520G>T	c.(520-522)Ggc>Tgc	p.G174C	OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000396743.3_Missense_Mutation_p.G174C|OTUD5_ENST00000428668.2_Intron|OTUD5_ENST00000376488.3_Missense_Mutation_p.G174C|RNU6-722P_ENST00000411377.1_RNA	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	174	Gly-rich.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CTGTTGTAGCCTGCGCCGACC	0.682																																					p.G174C		.											.	OTUD5-541	0			c.G520T						.						33.0	19.0	24.0					X																	48814313		2201	4296	6497	SO:0001583	missense	55593	exon1			TGTAGCCTGCGCC		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.520G>T	X.37:g.48814313C>A	ENSP00000156084:p.Gly174Cys	86	1		148	31	NM_001136157	0	0	0	0	0	B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706630	0.68615	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488	D;D;D	0.84370	-1.84;-1.84;-1.84	4.57	3.7	0.42460	.	0.000000	0.64402	D	0.000002	D	0.89255	0.6663	M	0.63843	1.955	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88456	0.3052	10	0.87932	D	0	-23.0956	7.5967	0.28052	0.0:0.882:0.0:0.118	.	174;174	Q96G74;G5E9D7	OTUD5_HUMAN;.	C	174;150;47;174;174	ENSP00000379969:G174C;ENSP00000156084:G174C;ENSP00000365671:G174C	ENSP00000156084:G174C	G	-	1	0	OTUD5	48699257	1.000000	0.71417	0.790000	0.31976	0.687000	0.40016	5.527000	0.67123	1.045000	0.40225	0.600000	0.82982	GGC	.		0.682	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602	
KCND1	3750	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	48822694	48822694	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48822694C>G	ENST00000218176.3	-	5	2783	c.1486G>C	c.(1486-1488)Gag>Cag	p.E496Q	KCND1_ENST00000376477.1_Missense_Mutation_p.E119Q	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	496					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	AAGGTGAGCTCATCTGTGAAC	0.622																																					p.E496Q		.											.	KCND1-133	0			c.G1486C						.						23.0	20.0	21.0					X																	48822694		2174	4272	6446	SO:0001583	missense	3750	exon5			TGAGCTCATCTGT	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1486G>C	X.37:g.48822694C>G	ENSP00000218176:p.Glu496Gln	385	1		418	76	NM_004979	0	0	0	0	0	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	CCDS14314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.10|13.10	2.136657|2.136657	0.37728|0.37728	.|.	.|.	ENSG00000102057|ENSG00000102057	ENST00000376477;ENST00000218176|ENST00000419374	D;D|.	0.84944|.	-1.92;-1.92|.	5.18|5.18	5.18|5.18	0.71444|0.71444	Potassium channel, voltage dependent, Kv4, C-terminal (1);|.	0.061588|.	0.64402|.	D|.	0.000007|.	T|.	0.60222|.	0.2252|.	L|L	0.48362|0.48362	1.52|1.52	0.58432|0.58432	D|D	0.999995|0.999995	B|.	0.23128|.	0.08|.	B|.	0.30716|.	0.119|.	T|.	0.58042|.	-0.7706|.	10|.	0.52906|.	T|.	0.07|.	.|.	12.3589|12.3589	0.55192|0.55192	0.0:0.834:0.166:0.0|0.0:0.834:0.166:0.0	.|.	496|.	Q9NSA2|.	KCND1_HUMAN|.	Q|S	119;496|67	ENSP00000365660:E119Q;ENSP00000218176:E496Q|.	ENSP00000218176:E496Q|.	E|X	-|-	1|2	0|2	KCND1|KCND1	48707638|48707638	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.649000|0.649000	0.38597|0.38597	4.748000|4.748000	0.62148|0.62148	2.149000|2.149000	0.67028|0.67028	0.523000|0.523000	0.50628|0.50628	GAG|TGA	.		0.622	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979	
GRIPAP1	56850	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	48832699	48832699	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48832699T>A	ENST00000376441.1	-	23	2172	c.2138A>T	c.(2137-2139)cAg>cTg	p.Q713L	GRIPAP1_ENST00000473581.1_5'Flank|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.Q682L|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.Q668L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	713						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGCCAGCCGCTGAAAGAGCTC	0.607																																					p.Q713L		.											.	GRIPAP1-227	0			c.A2138T						.						9.0	9.0	9.0					X																	48832699		2183	4269	6452	SO:0001583	missense	56850	exon23			AGCCGCTGAAAGA	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2138A>T	X.37:g.48832699T>A	ENSP00000365624:p.Gln713Leu	222	1		228	46	NM_020137	0	0	0	0	0	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	t	24.4	4.529577	0.85706	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291	.	.	.	4.38	4.38	0.52667	.	0.246164	0.34750	N	0.003703	T	0.51873	0.1700	L	0.47716	1.5	0.80722	D	1	P	0.40731	0.728	B	0.41764	0.366	T	0.55717	-0.8097	9	0.56958	D	0.05	-19.3116	10.3186	0.43751	0.0:0.0:0.0:1.0	.	713	Q4V328	GRAP1_HUMAN	L	682;668;713;682	.	ENSP00000365608:Q682L	Q	-	2	0	GRIPAP1	48717643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.726000	0.61986	1.628000	0.50416	0.433000	0.28618	CAG	.		0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672	
GRIPAP1	56850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	48853737	48853737	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48853737C>G	ENST00000376441.1	-	5	265	c.231G>C	c.(229-231)atG>atC	p.M77I	GRIPAP1_ENST00000376423.4_Missense_Mutation_p.M77I|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.M77I|GRIPAP1_ENST00000376444.3_Intron	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	77						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTGCCTGCAGCATCTCATTTT	0.537																																					p.M77I		.											.	GRIPAP1-227	0			c.G231C						.						93.0	59.0	71.0					X																	48853737		2203	4295	6498	SO:0001583	missense	56850	exon5			CTGCAGCATCTCA	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.231G>C	X.37:g.48853737C>G	ENSP00000365624:p.Met77Ile	36	0		51	13	NM_020137	0	0	0	0	0	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	c	17.36	3.368904	0.61624	.	.	ENSG00000068400	ENST00000376425;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T	0.27402	1.67;1.67;1.67	5.4	5.4	0.78164	.	0.049193	0.85682	D	0.000000	T	0.49949	0.1587	L	0.57536	1.79	0.35655	D	0.81205	P;P	0.48294	0.908;0.908	D;D	0.64144	0.922;0.922	T	0.57682	-0.7769	10	0.39692	T	0.17	-13.7813	15.0921	0.72204	0.0:1.0:0.0:0.0	.	77;77	Q4V328-2;Q4V328	.;GRAP1_HUMAN	I	77	ENSP00000365608:M77I;ENSP00000365624:M77I;ENSP00000365606:M77I	ENSP00000365606:M77I	M	-	3	0	GRIPAP1	48738681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.380000	0.73158	2.267000	0.75376	0.515000	0.50301	ATG	.		0.537	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672	
PRAF2	11230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	48929617	48929617	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48929617C>G	ENST00000376390.4	-	3	531	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	AF196779.12_ENST00000376358.3_Missense_Mutation_p.E264Q|PRAF2_ENST00000491199.1_5'UTR|WDR45_ENST00000553851.1_Missense_Mutation_p.E264Q	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	150					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						ATCTTGTTCTCAATCTTGTTC	0.587																																					p.E150Q		.											.	PRAF2-130	0			c.G448C						.						107.0	74.0	85.0					X																	48929617		2203	4300	6503	SO:0001583	missense	11230	exon3			TGTTCTCAATCTT	BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"""PRA1 domain family 2"""			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.448G>C	X.37:g.48929617C>G	ENSP00000365570:p.Glu150Gln	66	0		73	19	NM_007213	0	0	0	0	0	B2RD20	Missense_Mutation	SNP	ENST00000376390.4	37	CCDS14317.1	.	.	.	.	.	.	.	.	.	.	.	17.18	3.323170	0.60634	.	.	ENSG00000243279;ENSG00000196998;ENSG00000250232	ENST00000376390;ENST00000553851;ENST00000376358	T;T;T	0.54675	0.56;0.56;0.56	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000002	T	0.71651	0.3365	M	0.77486	2.375	0.23969	N	0.996312	D;D	0.89917	0.972;1.0	P;D	0.72982	0.808;0.979	T	0.65772	-0.6087	10	0.87932	D	0	-18.7172	14.8242	0.70097	0.0:1.0:0.0:0.0	.	264;150	A6NM71;O60831	.;PRAF2_HUMAN	Q	150;264;264	ENSP00000365570:E150Q;ENSP00000451962:E264Q;ENSP00000365536:E264Q	ENSP00000365536:E264Q	E	-	1	0	PRAF2;AF196779.12;WDR45	48816561	1.000000	0.71417	0.985000	0.45067	0.297000	0.27493	3.472000	0.53114	1.931000	0.55961	0.540000	0.68198	GAG	.		0.587	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083415.2	NM_007213	
WDR45	11152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	48935536	48935536	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:48935536G>A	ENST00000376372.3	-	3	271	c.90C>T	c.(88-90)cgC>cgT	p.R30R	AF196779.12_ENST00000376358.3_Silent_p.R30R|WDR45_ENST00000465431.1_5'UTR|WDR45_ENST00000322995.8_Silent_p.R30R|WDR45_ENST00000376368.2_Silent_p.R30R|WDR45_ENST00000553851.1_Silent_p.R30R|WDR45_ENST00000356463.3_Silent_p.R30R|WDR45_ENST00000473974.1_Silent_p.R30R|WDR45_ENST00000396681.4_Silent_p.R30R|WDR45_ENST00000485908.1_Silent_p.R30R	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	30					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CGTTGTAGATGCGCACACCTG	0.607																																					p.R30R		.											.	WDR45-131	0			c.C90T						.						77.0	54.0	62.0					X																	48935536		2203	4300	6503	SO:0001819	synonymous_variant	11152	exon4			GTAGATGCGCACA	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.90C>T	X.37:g.48935536G>A		93	0		91	19	NM_007075	0	0	0	0	0	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Silent	SNP	ENST00000376372.3	37	CCDS35250.1																																																																																			.		0.607	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075	
CACNA1F	778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	49074374	49074374	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:49074374C>T	ENST00000376265.2	-	25	3113	c.3052G>A	c.(3052-3054)Ggg>Agg	p.G1018R	CACNA1F_ENST00000376251.1_Missense_Mutation_p.G953R|CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1007R	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1018			G -> R (in CSNB2A). {ECO:0000269|PubMed:12111638}.		axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCTGCACCCCGATGCAGGCG	0.552																																					p.G1018R		.											.	CACNA1F-176	0			c.G3052A	GRCh37	CM021523	CACNA1F	M		.						137.0	100.0	112.0					X																	49074374		2203	4300	6503	SO:0001583	missense	778	exon25			GCACCCCGATGCA	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3052G>A	X.37:g.49074374C>T	ENSP00000365441:p.Gly1018Arg	155	0		152	46	NM_005183	0	0	0	0	0	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.290142	0.80914	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97665	-4.48;-4.48;-4.48	5.68	4.82	0.62117	Ion transport (1);	0.047372	0.85682	D	0.000000	D	0.99239	0.9735	H	0.99855	4.85	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	P;D	0.97110	0.855;1.0	D	0.97994	1.0356	10	0.87932	D	0	.	12.4977	0.55937	0.0:0.9165:0.0:0.0835	.	1007;1018	F5CIQ9;O60840	.;CAC1F_HUMAN	R	953;1007;1018	ENSP00000365427:G953R;ENSP00000321618:G1007R;ENSP00000365441:G1018R	ENSP00000321618:G1007R	G	-	1	0	CACNA1F	48961318	1.000000	0.71417	0.629000	0.29254	0.861000	0.49209	7.484000	0.81180	1.170000	0.42753	0.597000	0.82753	GGG	.		0.552	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
PPP1R3F	89801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	49142338	49142338	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:49142338G>T	ENST00000055335.6	+	4	1202	c.1186G>T	c.(1186-1188)Gat>Tat	p.D396Y	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.D50Y|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.D67Y|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.D50Y|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.D50Y	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	396					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					AGAAGAAGGTGATGTCCCCAG	0.607																																					p.D396Y		.											.	PPP1R3F-229	0			c.G1186T						.						50.0	47.0	48.0					X																	49142338		2203	4300	6503	SO:0001583	missense	89801	exon4			GAAGGTGATGTCC		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1186G>T	X.37:g.49142338G>T	ENSP00000055335:p.Asp396Tyr	260	0		329	49	NM_033215	0	0	0	0	0	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005676	0.54254	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.61158	0.57;0.57;0.13;0.57;0.57	5.27	5.27	0.74061	.	0.129998	0.35262	N	0.003333	T	0.62563	0.2438	L	0.27053	0.805	0.34501	D	0.70606	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.65573	0.912;0.912;0.936	T	0.74147	-0.3759	10	0.87932	D	0	-10.1505	13.2717	0.60164	0.0:0.0:1.0:0.0	.	67;81;396	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	Y	50;67;396;50;50	ENSP00000420687:D50Y;ENSP00000415548:D67Y;ENSP00000055335:D396Y;ENSP00000417535:D50Y;ENSP00000365359:D50Y	ENSP00000055335:D396Y	D	+	1	0	PPP1R3F	49029282	0.999000	0.42202	0.987000	0.45799	0.890000	0.51754	3.184000	0.50926	2.195000	0.70347	0.529000	0.55759	GAT	.		0.607	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	
CLCN5	1184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	49851057	49851057	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:49851057C>T	ENST00000307367.2	+	8	1168	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	CLCN5_ENST00000376108.3_Missense_Mutation_p.R293C|CLCN5_ENST00000376088.3_Missense_Mutation_p.R363C|CLCN5_ENST00000376091.3_Missense_Mutation_p.R363C			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	293					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|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)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATTCACTCTACGCTCCATCAA	0.473																																					p.R363C		.											.	CLCN5-132	0			c.C1087T						.						105.0	83.0	90.0					X																	49851057		2203	4300	6503	SO:0001583	missense	1184	exon11			ACTCTACGCTCCA	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.877C>T	X.37:g.49851057C>T	ENSP00000304257:p.Arg293Cys	100	0		117	30	NM_001127898	0	0	0	0	0	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764037	0.69878	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	5.83	5.83	0.93111	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.973;0.996	D	0.99013	1.0815	10	0.87932	D	0	-9.8095	12.8267	0.57725	0.1632:0.8368:0.0:0.0	.	293;363	P51795;P51795-2	CLCN5_HUMAN;.	C	363;195;363;293;293	ENSP00000365256:R363C;ENSP00000365259:R363C;ENSP00000365276:R293C;ENSP00000304257:R293C	ENSP00000304257:R293C	R	+	1	0	CLCN5	49737797	1.000000	0.71417	0.847000	0.33407	0.955000	0.61496	4.792000	0.62467	2.472000	0.83506	0.529000	0.55759	CGC	.		0.473	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		
AKAP4	8852	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	49957836	49957836	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:49957836G>T	ENST00000376056.2	-	5	1651	c.1501C>A	c.(1501-1503)Caa>Aaa	p.Q501K	AKAP4_ENST00000358526.2_Missense_Mutation_p.Q510K|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q501K|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTTGCTTTTGGTTCCAGATG	0.453																																					p.Q510K		.											.	AKAP4-540	0			c.C1528A						.						218.0	190.0	199.0					X																	49957836		2203	4300	6503	SO:0001583	missense	8852	exon5			GCTTTTGGTTCCA	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1501C>A	X.37:g.49957836G>T	ENSP00000365224:p.Gln501Lys	96	1		111	23	NM_003886	0	0	0	0	0		Missense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	5.158	0.214750	0.09810	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.05717	3.4;3.4;3.4	4.83	4.83	0.62350	A-kinase anchor 110kDa, C-terminal (1);	0.127211	0.34750	N	0.003704	T	0.11196	0.0273	N	0.17379	0.485	0.80722	D	1	D	0.62365	0.991	D	0.71414	0.973	T	0.36212	-0.9757	9	.	.	.	-12.2698	12.4754	0.55809	0.0:0.0:1.0:0.0	.	510	Q5JQC9	AKAP4_HUMAN	K	501;510;501	ENSP00000365224:Q501K;ENSP00000351327:Q510K;ENSP00000365232:Q501K	.	Q	-	1	0	AKAP4	49844576	1.000000	0.71417	0.997000	0.53966	0.716000	0.41182	2.952000	0.49097	1.995000	0.58328	0.464000	0.42555	CAA	.		0.453	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886	
CCNB3	85417	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	50054083	50054083	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:50054083delG	ENST00000376042.1	+	6	3212	c.2914delG	c.(2914-2916)ggafs	p.G972fs	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Frame_Shift_Del_p.G972fs|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	972					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCCCCAAGTTGGAACCAGCCC	0.493																																					p.G972fs		.											.	CCNB3-482	0			c.2914delG						.						93.0	83.0	86.0					X																	50054083		2203	4300	6503	SO:0001589	frameshift_variant	85417	exon5			CAAGTTGGAACCA	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2914delG	X.37:g.50054083delG	ENSP00000365210:p.Gly972fs	204	0		186	50	NM_033031	0	0	0	0	0	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Frame_Shift_Del	DEL	ENST00000376042.1	37	CCDS14331.1																																																																																			.		0.493	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
DGKK	139189	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	50121627	50121627	+	RNA	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:50121627C>A	ENST00000376025.2	-	0	2984							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTGCCATCTGCACAGAACCAA	0.537																																					.		.											.	DGKK-227	0			.						.						113.0	101.0	105.0					X																	50121627		2079	4179	6258			139189	.			CATCTGCACAGAA	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50121627C>A		161	1		166	71	.	0	0	0	0	0	B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																				.		0.537	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
SHROOM4	57477	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	50377365	50377365	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:50377365G>T	ENST00000289292.7	-	4	1991	c.1708C>A	c.(1708-1710)Cga>Aga	p.R570R	SHROOM4_ENST00000460112.3_Silent_p.R454R|SHROOM4_ENST00000376020.2_Silent_p.R570R			Q9ULL8	SHRM4_HUMAN	shroom family member 4	570					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCTCCACTTCGCCTACCACCC	0.582																																					p.R570R		.											.	SHROOM4-131	0			c.C1708A						.						34.0	31.0	32.0					X																	50377365		2203	4300	6503	SO:0001819	synonymous_variant	57477	exon4			CACTTCGCCTACC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1708C>A	X.37:g.50377365G>T		87	0		65	16	NM_020717	0	0	0	0	0	A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																			.		0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
SHROOM4	57477	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	50377405	50377405	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:50377405C>G	ENST00000289292.7	-	4	1951	c.1668G>C	c.(1666-1668)ggG>ggC	p.G556G	SHROOM4_ENST00000460112.3_Silent_p.G440G|SHROOM4_ENST00000376020.2_Silent_p.G556G			Q9ULL8	SHRM4_HUMAN	shroom family member 4	556					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTCGCTGTCCCCTTCTTCAC	0.597																																					p.G556G		.											.	SHROOM4-131	0			c.G1668C						.						34.0	28.0	30.0					X																	50377405		2203	4300	6503	SO:0001819	synonymous_variant	57477	exon4			GCTGTCCCCTTCT	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1668G>C	X.37:g.50377405C>G		138	0		97	21	NM_020717	0	0	0	0	0	A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																			.		0.597	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
NUDT10	170685	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	51075872	51075872	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:51075872C>A	ENST00000376006.3	+	2	275	c.55C>A	c.(55-57)Cgg>Agg	p.R19R	NUDT10_ENST00000356450.2_Silent_p.R19R	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GTTCAAGAAGCGGGCGGCGTG	0.677																																					p.R19R	NSCLC(90;1817 2035 37909 38249)	.											.	NUDT10-90	0			c.C55A						.						42.0	32.0	36.0					X																	51075872		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			AAGAAGCGGGCGG	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.55C>A	X.37:g.51075872C>A		541	1		759	121	NM_153183	0	0	0	0	0	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																			.		0.677	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183	
GSPT2	23708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	51487049	51487049	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:51487049T>A	ENST00000340438.4	+	1	569	c.327T>A	c.(325-327)ccT>ccA	p.P109P		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	109					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GGGGGGCACCTGTGGAACCTT	0.587																																					p.P109P		.											.	GSPT2-228	0			c.T327A						.						16.0	15.0	16.0					X																	51487049		2202	4299	6501	SO:0001819	synonymous_variant	23708	exon1			GGCACCTGTGGAA	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.327T>A	X.37:g.51487049T>A		28	0		67	12	NM_018094	0	0	0	0	0	Q9H909|Q9NVY0|Q9NY44	Silent	SNP	ENST00000340438.4	37	CCDS14336.1																																																																																			.		0.587	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1		
MAGED1	9500	hgsc.bcm.edu;bcgsc.ca	37	X	51639728	51639728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:51639728delG	ENST00000375722.1	+	4	1229	c.977delG	c.(976-978)aggfs	p.R326fs	MAGED1_ENST00000375695.2_Frame_Shift_Del_p.R382fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.R326fs|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Frame_Shift_Del_p.R326fs			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	326	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTCCAGCTAGGCAGACCCCA	0.602										Multiple Myeloma(10;0.10)																											p.R382fs		.											.	MAGED1-133	0			c.1145delG						.						61.0	58.0	59.0					X																	51639728		2203	4300	6503	SO:0001589	frameshift_variant	9500	exon5			CAGCTAGGCAGAC	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.977delG	X.37:g.51639728delG	ENSP00000364874:p.Arg326fs	349	2		283	106	NM_001005333	0	0	0	0	0	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Frame_Shift_Del	DEL	ENST00000375722.1	37	CCDS14337.1																																																																																			.		0.602	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	
GPR173	54328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	53105990	53105990	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53105990G>T	ENST00000332582.4	+	2	678	c.187G>T	c.(187-189)Gac>Tac	p.D63Y		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	63					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CTTCCTGCTGGACCTGTGCCT	0.602																																					p.D63Y		.											.	GPR173-130	0			c.G187T						.						116.0	82.0	94.0					X																	53105990		2203	4300	6503	SO:0001583	missense	54328	exon2			CTGCTGGACCTGT	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.187G>T	X.37:g.53105990G>T	ENSP00000331600:p.Asp63Tyr	145	0		121	26	NM_018969	0	0	0	0	0	B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564491	0.65651	.	.	ENSG00000184194	ENST00000332582	T	0.36340	1.26	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61898	-0.6968	10	0.87932	D	0	-11.4746	13.3442	0.60561	0.0:0.0:1.0:0.0	.	63	Q9NS66	GP173_HUMAN	Y	63	ENSP00000331600:D63Y	ENSP00000331600:D63Y	D	+	1	0	GPR173	53122715	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.657000	0.98554	2.006000	0.58801	0.529000	0.55759	GAC	.		0.602	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969	
IQSEC2	23096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	53278002	53278002	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53278002C>A	ENST00000375368.5	-	5	2530	c.2330G>T	c.(2329-2331)gGa>gTa	p.G777V	IQSEC2_ENST00000396435.3_Missense_Mutation_p.G787V|IQSEC2_ENST00000375365.2_Missense_Mutation_p.G582V			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	777	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTGAGCCACTCCCACCGGTGT	0.557																																					p.G787V		.											.	IQSEC2-178	0			c.G2360T						.						72.0	51.0	58.0					X																	53278002		2203	4300	6503	SO:0001583	missense	23096	exon6			GCCACTCCCACCG	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2330G>T	X.37:g.53278002C>A	ENSP00000364517:p.Gly777Val	76	0		94	42	NM_001111125	0	0	0	0	0	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	C	19.53	3.845828	0.71603	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.54479	0.57;0.57;0.57	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	L	0.39514	1.22	0.80722	D	1	P;D	0.89917	0.951;1.0	P;D	0.97110	0.754;1.0	T	0.68511	-0.5389	10	0.87932	D	0	.	17.9436	0.89032	0.0:1.0:0.0:0.0	.	787;582	Q5JU85-2;Q5JU85-3	.;.	V	787;777;582	ENSP00000379712:G787V;ENSP00000364517:G777V;ENSP00000364514:G582V	ENSP00000364514:G582V	G	-	2	0	IQSEC2	53294727	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.818000	0.86416	2.513000	0.84729	0.600000	0.82982	GGA	.		0.557	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345	
IQSEC2	23096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	53279726	53279726	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53279726C>A	ENST00000375368.5	-	4	2202	c.2002G>T	c.(2002-2004)Ggt>Tgt	p.G668C	IQSEC2_ENST00000396435.3_Missense_Mutation_p.G678C|IQSEC2_ENST00000375365.2_Missense_Mutation_p.G473C			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	668					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AACCTCCGACCCCCAGCCACA	0.642																																					p.G678C		.											.	IQSEC2-178	0			c.G2032T						.						37.0	33.0	35.0					X																	53279726		2203	4297	6500	SO:0001583	missense	23096	exon5			TCCGACCCCCAGC	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2002G>T	X.37:g.53279726C>A	ENSP00000364517:p.Gly668Cys	57	0		68	18	NM_001111125	0	0	0	0	0	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	c	13.46	2.243288	0.39697	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.12879	2.65;2.64;2.69	4.71	1.91	0.25777	.	0.557272	0.19360	N	0.116176	T	0.08268	0.0206	N	0.24115	0.695	0.36039	D	0.839967	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.003	T	0.13282	-1.0515	10	0.59425	D	0.04	.	4.8539	0.13550	0.1507:0.5759:0.0:0.2734	.	678;473	Q5JU85-2;Q5JU85-3	.;.	C	678;668;473	ENSP00000379712:G678C;ENSP00000364517:G668C;ENSP00000364514:G473C	ENSP00000364514:G473C	G	-	1	0	IQSEC2	53296451	0.903000	0.30736	1.000000	0.80357	0.933000	0.57130	0.581000	0.23819	0.440000	0.26502	-0.195000	0.12781	GGT	.		0.642	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345	
IQSEC2	23096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	53279966	53279966	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53279966G>C	ENST00000375368.5	-	4	1962	c.1762C>G	c.(1762-1764)Cct>Gct	p.P588A	IQSEC2_ENST00000396435.3_Missense_Mutation_p.P598A|IQSEC2_ENST00000375365.2_Missense_Mutation_p.P393A			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	588	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCACTAGGAGGCTCAATGGTA	0.652																																					p.P598A		.											.	IQSEC2-178	0			c.C1792G						.						18.0	16.0	17.0					X																	53279966		2195	4295	6490	SO:0001583	missense	23096	exon5			TAGGAGGCTCAAT	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1762C>G	X.37:g.53279966G>C	ENSP00000364517:p.Pro588Ala	106	0		115	27	NM_001111125	0	0	0	0	0	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	g	22.0	4.226168	0.79576	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.50548	0.75;0.74;1.33	5.37	5.37	0.77165	.	.	.	.	.	T	0.62962	0.2471	L	0.55213	1.73	0.58432	D	0.999994	D;D	0.71674	0.998;0.982	D;P	0.66084	0.941;0.831	T	0.61618	-0.7026	9	0.40728	T	0.16	.	16.8728	0.86044	0.0:0.0:1.0:0.0	.	598;393	Q5JU85-2;Q5JU85-3	.;.	A	598;588;393	ENSP00000379712:P598A;ENSP00000364517:P588A;ENSP00000364514:P393A	ENSP00000364514:P393A	P	-	1	0	IQSEC2	53296691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.778000	0.99011	2.246000	0.74042	0.597000	0.82753	CCT	.		0.652	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345	
HUWE1	10075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	53561133	53561133	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53561133C>T	ENST00000342160.3	-	82	13314	c.12857G>A	c.(12856-12858)cGt>cAt	p.R4286H	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4286H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4286	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCGAAAGAACGCAATGCTCT	0.542																																					p.R4286H		.											.	HUWE1-280	0			c.G12857A						.						99.0	65.0	77.0					X																	53561133		2203	4300	6503	SO:0001583	missense	10075	exon83			AAAGAACGCAATG	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12857G>A	X.37:g.53561133C>T	ENSP00000340648:p.Arg4286His	434	0		414	97	NM_031407	0	0	0	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595489	0.46318	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.41758	0.99;0.99	5.65	5.65	0.86999	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	L	0.50993	1.605	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72075	0.976;0.96	T	0.61969	-0.6953	10	0.87932	D	0	.	17.6554	0.88176	0.0:1.0:0.0:0.0	.	4286;4270	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	H	4286	ENSP00000340648:R4286H;ENSP00000262854:R4286H	ENSP00000262854:R4286H	R	-	2	0	HUWE1	53577858	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.421000	0.66447	2.528000	0.85240	0.529000	0.55759	CGT	.		0.542	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
HUWE1	10075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	53602737	53602737	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53602737C>A	ENST00000342160.3	-	44	6353	c.5896G>T	c.(5896-5898)Gat>Tat	p.D1966Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.D1966Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1966					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGTTTAGGATCAGATTTATCT	0.438																																					p.D1966Y		.											.	HUWE1-280	0			c.G5896T						.						91.0	74.0	80.0					X																	53602737		2203	4300	6503	SO:0001583	missense	10075	exon45			TAGGATCAGATTT	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5896G>T	X.37:g.53602737C>A	ENSP00000340648:p.Asp1966Tyr	178	0		146	26	NM_031407	0	0	0	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.94|16.94	3.260133|3.260133	0.59321|0.59321	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.38240|.	1.15;1.15|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.288500|.	0.32041|.	N|.	0.006665|.	T|.	0.46328|.	0.1387|.	N|N	0.08118|0.08118	0|0	0.40597|0.40597	D|D	0.981549|0.981549	P;P|.	0.47191|.	0.651;0.891|.	B;P|.	0.44359|.	0.261;0.447|.	T|.	0.46133|.	-0.9213|.	10|.	0.66056|.	D|.	0.02|.	.|.	17.8502|17.8502	0.88744|0.88744	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1966;1966|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Y|L	1966|999	ENSP00000340648:D1966Y;ENSP00000262854:D1966Y|.	ENSP00000262854:D1966Y|.	D|X	-|-	1|2	0|2	HUWE1|HUWE1	53619462|53619462	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	5.246000|5.246000	0.65411|0.65411	2.489000|2.489000	0.83994|0.83994	0.600000|0.600000	0.82982|0.82982	GAT|TGA	.		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
HUWE1	10075	broad.mit.edu	37	X	53634661	53634661	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:53634661C>A	ENST00000342160.3	-	24	2777		c.e24-1		HUWE1_ENST00000218328.8_Splice_Site|HUWE1_ENST00000262854.6_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAAATTTCATCTAGGTAATAA	0.388																																					.		.											.	HUWE1-280	0			c.2320-1G>T						.						58.0	50.0	53.0					X																	53634661		2203	4300	6503	SO:0001630	splice_region_variant	10075	exon26			TTTCATCTAGGTA	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2320-1G>T	X.37:g.53634661C>A		56	0		45	4	NM_031407	0	0	0	0	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427559	0.83667	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8004	0.85612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HUWE1	53651386	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.136000	0.77285	2.492000	0.84095	0.600000	0.82982	.	.		0.388	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Intron
WNK3	65267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	54228531	54228531	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54228531C>A	ENST00000375159.2	-	22	4965	c.4966G>T	c.(4966-4968)Gac>Tac	p.D1656Y	WNK3_ENST00000354646.2_Missense_Mutation_p.D1656Y|WNK3_ENST00000375169.3_Missense_Mutation_p.D1599Y			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1656					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTTGTCCAGTCATCCACCAGC	0.398																																					p.D1656Y		.											.	WNK3-441	0			c.G4966T						.						170.0	127.0	141.0					X																	54228531		2203	4300	6503	SO:0001583	missense	65267	exon23			TCCAGTCATCCAC	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4966G>T	X.37:g.54228531C>A	ENSP00000364301:p.Asp1656Tyr	127	0		105	26	NM_020922	0	0	0	0	0	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093747	0.56075	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.34859	1.34;1.34;1.34	4.88	4.01	0.46588	.	0.100537	0.43579	D	0.000556	T	0.56001	0.1956	M	0.65975	2.015	0.36259	D	0.854436	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66006	-0.6030	10	0.87932	D	0	-5.7675	11.3391	0.49523	0.0:0.9065:0.0:0.0935	.	1599;1656	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Y	1599;1656;1656	ENSP00000364312:D1599Y;ENSP00000346667:D1656Y;ENSP00000364301:D1656Y	ENSP00000346667:D1656Y	D	-	1	0	WNK3	54245256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.151000	0.42263	0.853000	0.35312	0.529000	0.55759	GAC	.		0.398	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
WNK3	65267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	54263789	54263789	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54263789C>G	ENST00000375159.2	-	19	4209	c.4210G>C	c.(4210-4212)Gaa>Caa	p.E1404Q	WNK3_ENST00000375169.3_Missense_Mutation_p.E1357Q|WNK3_ENST00000354646.2_Missense_Mutation_p.E1404Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1404					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTACAGGTTTCCTGAAGAGCT	0.383																																					p.E1404Q		.											.	WNK3-441	0			c.G4210C						.						87.0	78.0	81.0					X																	54263789		2203	4300	6503	SO:0001583	missense	65267	exon20			AGGTTTCCTGAAG	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4210G>C	X.37:g.54263789C>G	ENSP00000364301:p.Glu1404Gln	81	0		63	6	NM_020922	0	0	0	0	0	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447482	0.26074	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72505	-0.66;-0.59;-0.59	5.03	0.785	0.18584	.	0.335587	0.25636	N	0.029304	T	0.51210	0.1661	L	0.29908	0.895	0.18873	N	0.999985	P;B	0.35575	0.51;0.376	B;B	0.35413	0.202;0.1	T	0.40421	-0.9564	10	0.15952	T	0.53	-5.1932	7.9551	0.30038	0.0:0.5671:0.0:0.4329	.	1357;1404	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Q	1357;1404;1404	ENSP00000364312:E1357Q;ENSP00000346667:E1404Q;ENSP00000364301:E1404Q	ENSP00000346667:E1404Q	E	-	1	0	WNK3	54280514	0.029000	0.19370	0.049000	0.19019	0.966000	0.64601	-0.013000	0.12678	-0.231000	0.09825	0.600000	0.82982	GAA	.		0.383	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
WNK3	65267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	54263899	54263899	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54263899G>T	ENST00000375159.2	-	19	4099	c.4100C>A	c.(4099-4101)tCt>tAt	p.S1367Y	WNK3_ENST00000375169.3_Missense_Mutation_p.S1320Y|WNK3_ENST00000354646.2_Missense_Mutation_p.S1367Y			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1367					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCTTCACTAGAATGGTTTGT	0.353																																					p.S1367Y		.											.	WNK3-441	0			c.C4100A						.						80.0	73.0	75.0					X																	54263899		2203	4300	6503	SO:0001583	missense	65267	exon20			TCACTAGAATGGT	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4100C>A	X.37:g.54263899G>T	ENSP00000364301:p.Ser1367Tyr	21	0		15	5	NM_020922	0	0	0	0	0	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346274	0.41599	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71103	-0.54;-0.54;-0.54	5.27	4.41	0.53225	.	0.114316	0.39475	N	0.001353	T	0.73544	0.3600	L	0.29908	0.895	0.23795	N	0.996825	D;D	0.89917	1.0;0.964	D;P	0.87578	0.998;0.694	T	0.64253	-0.6451	10	0.72032	D	0.01	-6.7781	9.0274	0.36239	0.1055:0.0:0.8945:0.0	.	1320;1367	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Y	1320;1367;1367	ENSP00000364312:S1320Y;ENSP00000346667:S1367Y;ENSP00000364301:S1367Y	ENSP00000346667:S1367Y	S	-	2	0	WNK3	54280624	0.998000	0.40836	0.797000	0.32132	0.608000	0.37181	2.321000	0.43805	1.112000	0.41740	0.600000	0.82982	TCT	.		0.353	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
GNL3L	54552	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	54586952	54586952	+	Splice_Site	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54586952G>C	ENST00000336470.4	+	16	1805		c.e16-1		GNL3L_ENST00000360845.2_Splice_Site	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like						GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TCCATTTGCAGATAAAATCGC	0.507																																					.		.											.	GNL3L-131	0			c.1667-1G>C						.						222.0	183.0	196.0					X																	54586952		2203	4300	6503	SO:0001630	splice_region_variant	54552	exon16			TTTGCAGATAAAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1667-1G>C	X.37:g.54586952G>C		79	0		106	20	NM_019067	0	0	0	0	0		Splice_Site	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413334	0.62511	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0835	0.53684	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GNL3L	54603677	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.937000	0.56575	2.139000	0.66308	0.506000	0.49869	.	.		0.507	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067	Intron
ITIH6	347365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	54800536	54800536	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54800536A>C	ENST00000218436.6	-	6	910	c.881T>G	c.(880-882)aTg>aGg	p.M294R		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	294	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGTACCAAACATGGAGCTGCT	0.453																																					p.M294R		.											.	.	0			c.T881G						.						84.0	65.0	71.0					X																	54800536		2203	4300	6503	SO:0001583	missense	347365	exon6			CCAAACATGGAGC	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.881T>G	X.37:g.54800536A>C	ENSP00000218436:p.Met294Arg	446	0		442	81	NM_198510	0	0	0	0	0	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	a	14.23	2.472942	0.43942	.	.	ENSG00000102313	ENST00000218436	T	0.25912	1.77	4.15	2.92	0.33932	von Willebrand factor, type A (3);	0.058480	0.64402	U	0.000003	T	0.58750	0.2144	H	0.95043	3.615	0.42236	D	0.991918	D	0.89917	1.0	D	0.97110	1.0	T	0.64249	-0.6452	10	0.87932	D	0	.	8.7246	0.34460	0.8272:0.0:0.0:0.1728	.	294	Q6UXX5	ITH5L_HUMAN	R	294	ENSP00000218436:M294R	ENSP00000218436:M294R	M	-	2	0	ITIH5L	54817261	1.000000	0.71417	0.412000	0.26496	0.459000	0.32528	4.797000	0.62503	0.517000	0.28361	0.345000	0.21793	ATG	.		0.453	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
ITIH6	347365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	54817377	54817377	+	Nonsense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:54817377A>T	ENST00000218436.6	-	4	538	c.509T>A	c.(508-510)tTg>tAg	p.L170*	ITIH6_ENST00000498398.1_5'Flank	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	170					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CCTCTTCACCAATTGGCCAGG	0.587																																					p.L170X		.											.	.	0			c.T509A						.						95.0	72.0	80.0					X																	54817377		2203	4300	6503	SO:0001587	stop_gained	347365	exon4			TTCACCAATTGGC	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.509T>A	X.37:g.54817377A>T	ENSP00000218436:p.Leu170*	217	0		223	45	NM_198510	0	0	0	0	0	A6NN03	Nonsense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237597	0.58886	.	.	ENSG00000102313	ENST00000218436	.	.	.	4.92	4.92	0.64577	.	0.461420	0.19382	U	0.115628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6732	0.56878	1.0:0.0:0.0:0.0	.	.	.	.	X	170	.	ENSP00000218436:L170X	L	-	2	0	ITIH5L	54834102	1.000000	0.71417	0.009000	0.14445	0.014000	0.08584	2.241000	0.43097	1.630000	0.50440	0.446000	0.29264	TTG	.		0.587	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
KLF8	11279	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	56259773	56259773	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:56259773C>A	ENST00000468660.1	+	1	294	c.6C>A	c.(4-6)gtC>gtA	p.V2V	KLF8_ENST00000374928.3_Splice_Site_p.V2V	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GTGACATGGTCGGTAAGTGAC	0.577																																					p.V2V		.											.	KLF8-131	0			c.C6A						.						182.0	122.0	142.0					X																	56259773		2203	4300	6503	SO:0001630	splice_region_variant	11279	exon2			CATGGTCGGTAAG	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.7+1C>A	X.37:g.56259773C>A		140	1		104	21	NM_001159296	0	0	0	0	0	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Silent	SNP	ENST00000468660.1	37	CCDS14373.1																																																																																			.		0.577	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250	Silent
SPIN3	169981	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	57020873	57020873	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:57020873G>T	ENST00000374919.3	-	2	830	c.508C>A	c.(508-510)Cct>Act	p.P170T		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	170					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TATAATACAGGATCTTTCTCA	0.433																																					p.P170T		.											.	SPIN3-131	0			c.C508A						.						94.0	94.0	94.0					X																	57020873		2160	4248	6408	SO:0001583	missense	169981	exon2			ATACAGGATCTTT	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.508C>A	X.37:g.57020873G>T	ENSP00000364054:p.Pro170Thr	190	1		173	31	NM_001010862	0	0	0	0	0	B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239415	0.58995	.	.	ENSG00000204271	ENST00000374919	T	0.47869	0.83	2.72	2.72	0.32119	.	0.000000	0.64402	U	0.000013	T	0.64864	0.2637	M	0.77313	2.365	0.39189	D	0.962934	D	0.76494	0.999	D	0.71414	0.973	T	0.70876	-0.4753	10	0.62326	D	0.03	-4.5042	10.7756	0.46348	0.0:0.0:1.0:0.0	.	170	Q5JUX0	SPIN3_HUMAN	T	170	ENSP00000364054:P170T	ENSP00000364054:P170T	P	-	1	0	SPIN3	57037598	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.968000	0.70413	1.659000	0.50751	0.600000	0.82982	CCT	.		0.433	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024	
SPIN2B	474343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	57146348	57146348	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:57146348A>T	ENST00000333933.3	-	2	1025	c.715T>A	c.(715-717)Tat>Aat	p.Y239N	SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000275988.5_Missense_Mutation_p.Y239N|SPIN2B_ENST00000374910.3_Missense_Mutation_p.Y138N|SPIN2B_ENST00000374912.5_Missense_Mutation_p.Y239N|RP3-323P24.3_ENST00000439622.1_RNA	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	239					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						TTGATGAAATACACAGAGGGT	0.393																																					p.Y239N		.											.	SPIN2B-90	0			c.T715A						.						137.0	114.0	122.0					X																	57146348		2203	4298	6501	SO:0001583	missense	474343	exon2			TGAAATACACAGA	AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.715T>A	X.37:g.57146348A>T	ENSP00000335008:p.Tyr239Asn	973	0		824	160	NM_001006683	0	0	0	0	0	Q7Z2M0	Missense_Mutation	SNP	ENST00000333933.3	37	CCDS35311.1	.	.	.	.	.	.	.	.	.	.	.	14.22	2.470957	0.43942	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000374910;ENST00000333933;ENST00000434397	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	2.61	2.61	0.31194	.	0.000000	0.64402	D	0.000005	T	0.72558	0.3475	M	0.68317	2.08	0.44508	D	0.997452	D	0.76494	0.999	D	0.74023	0.982	T	0.73849	-0.3853	10	0.87932	D	0	-3.1325	8.3198	0.32121	1.0:0.0:0.0:0.0	.	239	Q9BPZ2	SPI2B_HUMAN	N	239;239;138;239;239	ENSP00000275988:Y239N;ENSP00000364047:Y239N;ENSP00000364045:Y138N;ENSP00000335008:Y239N;ENSP00000404314:Y239N	ENSP00000275988:Y239N	Y	-	1	0	SPIN2B	57163073	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.588000	0.82629	1.302000	0.44855	0.143000	0.16000	TAT	.		0.393	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056912.1	NM_001006681	
SPIN2B	474343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	57146372	57146372	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:57146372G>T	ENST00000333933.3	-	2	1001	c.691C>A	c.(691-693)Caa>Aaa	p.Q231K	SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000275988.5_Missense_Mutation_p.Q231K|SPIN2B_ENST00000374910.3_Missense_Mutation_p.Q130K|SPIN2B_ENST00000374912.5_Missense_Mutation_p.Q231K|RP3-323P24.3_ENST00000439622.1_RNA	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	231					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						GCTTCCACTTGGTGAATGACC	0.418																																					p.Q231K		.											.	SPIN2B-90	0			c.C691A						.						160.0	132.0	142.0					X																	57146372		2203	4298	6501	SO:0001583	missense	474343	exon2			CCACTTGGTGAAT	AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.691C>A	X.37:g.57146372G>T	ENSP00000335008:p.Gln231Lys	956	0		771	141	NM_001006683	0	0	0	0	0	Q7Z2M0	Missense_Mutation	SNP	ENST00000333933.3	37	CCDS35311.1	.	.	.	.	.	.	.	.	.	.	.	12.62	1.993837	0.35131	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000374910;ENST00000333933;ENST00000434397	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	2.37	2.37	0.29283	.	0.000000	0.64402	D	0.000001	T	0.66356	0.2781	M	0.62209	1.925	0.43693	D	0.996146	P	0.39157	0.662	P	0.57152	0.814	T	0.62492	-0.6843	10	0.27785	T	0.31	-11.7564	10.1693	0.42900	0.0:0.0:1.0:0.0	.	231	Q9BPZ2	SPI2B_HUMAN	K	231;231;130;231;231	ENSP00000275988:Q231K;ENSP00000364047:Q231K;ENSP00000364045:Q130K;ENSP00000335008:Q231K;ENSP00000404314:Q231K	ENSP00000275988:Q231K	Q	-	1	0	SPIN2B	57163097	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	8.015000	0.88690	1.500000	0.48636	0.171000	0.16805	CAA	.		0.418	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056912.1	NM_001006681	
SPIN2A	54466	broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	57162366	57162366	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:57162366G>C	ENST00000374908.1	-	1	1064	c.665C>G	c.(664-666)tCc>tGc	p.S222C	SPIN2A_ENST00000374906.3_Missense_Mutation_p.S222C			Q99865	SPI2A_HUMAN	spindlin family, member 2A	222					cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				breast(1)|kidney(1)|ovary(1)	3						GATCCTTTTGGAGCCATCTTC	0.443																																					p.S222C		.											.	SPIN2A-130	0			c.C665G						.						93.0	79.0	83.0					X																	57162366		2203	4294	6497	SO:0001583	missense	54466	exon2			CTTTTGGAGCCAT	Y09858	CCDS35312.1	Xp11.1	2008-02-05	2006-12-05	2006-12-05	ENSG00000147059	ENSG00000147059			20694	protein-coding gene	gene with protein product		300621	"""spindlin family, member 2"""	SPIN2		9271673	Standard	NM_019003		Approved	DXF34	uc004dvb.3	Q99865	OTTHUMG00000022705	ENST00000374908.1:c.665C>G	X.37:g.57162366G>C	ENSP00000364043:p.Ser222Cys	824	1		734	148	NM_019003	0	0	0	0	0	O75650|Q6IPW2|Q9UJJ0	Missense_Mutation	SNP	ENST00000374908.1	37	CCDS35312.1	.	.	.	.	.	.	.	.	.	.	.	14.02	2.410244	0.42715	.	.	ENSG00000147059	ENST00000374908;ENST00000374906	T;T	0.50813	0.73;0.73	2.89	2.89	0.33648	.	0.279267	0.29964	N	0.010752	T	0.51584	0.1683	M	0.76574	2.34	0.31205	N	0.699352	D	0.60160	0.987	P	0.47134	0.539	T	0.64266	-0.6448	10	0.72032	D	0.01	-10.9808	10.9959	0.47575	0.0:0.0:1.0:0.0	.	222	Q99865	SPI2A_HUMAN	C	222	ENSP00000364043:S222C;ENSP00000364041:S222C	ENSP00000364041:S222C	S	-	2	0	SPIN2A	57179091	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.568000	0.60857	1.716000	0.51395	0.422000	0.28245	TCC	.		0.443	SPIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058915.1	NM_019003	
HEPH	9843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	65412128	65412128	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:65412128G>T	ENST00000343002.2	+	6	1884	c.1220G>T	c.(1219-1221)aGa>aTa	p.R407I	HEPH_ENST00000374727.3_Missense_Mutation_p.R410I|HEPH_ENST00000441993.2_Missense_Mutation_p.R410I|HEPH_ENST00000519389.1_Missense_Mutation_p.R461I|HEPH_ENST00000336279.5_Missense_Mutation_p.R140I|HEPH_ENST00000419594.1_Missense_Mutation_p.R410I			Q9BQS7	HEPH_HUMAN	hephaestin	407	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGAATTTGAGAGAGCCAGGC	0.458																																					p.R461I		.											.	HEPH-135	0			c.G1382T						.						85.0	78.0	80.0					X																	65412128		2203	4300	6503	SO:0001583	missense	9843	exon7			ATTTGAGAGAGCC	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1220G>T	X.37:g.65412128G>T	ENSP00000343939:p.Arg407Ile	345	1		209	110	NM_138737	0	0	0	0	0	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	G	12.17	1.858336	0.32791	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13	5.29	-0.928	0.10448	Cupredoxin (2);	0.514876	0.22015	N	0.065806	D	0.93213	0.7838	N	0.20483	0.58	0.34475	D	0.703218	B;B;B	0.15141	0.002;0.012;0.002	B;B;B	0.14023	0.007;0.01;0.004	D	0.84720	0.0739	10	0.34782	T	0.22	.	0.243	0.00195	0.2603:0.2809:0.1709:0.2879	.	461;410;407	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	I	461;410;140;410;410;407;407	ENSP00000430620:R461I;ENSP00000363859:R410I;ENSP00000337418:R140I;ENSP00000411687:R410I;ENSP00000413211:R410I;ENSP00000343939:R407I;ENSP00000398078:R407I	ENSP00000337418:R140I	R	+	2	0	HEPH	65328853	0.195000	0.23338	0.992000	0.48379	0.981000	0.71138	0.135000	0.15952	-0.181000	0.10619	0.523000	0.50628	AGA	.		0.458	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737	
FAM155B	27112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	68748874	68748874	+	Missense_Mutation	SNP	C	C	G	rs200565192		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:68748874C>G	ENST00000252338.4	+	2	942	c.900C>G	c.(898-900)agC>agG	p.S300R		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	300						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						AATACTTCAGCGTGACCCAGC	0.597																																					p.S300R		.											.	FAM155B-131	0			c.C900G						.						60.0	44.0	50.0					X																	68748874		2203	4300	6503	SO:0001583	missense	27112	exon2			CTTCAGCGTGACC	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.900C>G	X.37:g.68748874C>G	ENSP00000252338:p.Ser300Arg	204	0		135	80	NM_015686	0	0	0	0	0	B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	CCDS35317.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955876	0.53293	.	.	ENSG00000130054	ENST00000252338	T	0.79749	-1.3	5.07	1.49	0.22878	.	0.238126	0.36815	N	0.002388	T	0.66197	0.2765	N	0.22421	0.69	0.30454	N	0.774977	P	0.44627	0.839	B	0.43052	0.406	T	0.65417	-0.6173	10	0.51188	T	0.08	-7.4135	5.7834	0.18320	0.0:0.6019:0.1535:0.2446	.	300	O75949-2	.	R	300	ENSP00000252338:S300R	ENSP00000252338:S300R	S	+	3	2	FAM155B	68665599	0.854000	0.29725	1.000000	0.80357	0.998000	0.95712	-0.033000	0.12246	0.639000	0.30564	0.523000	0.50628	AGC	C|0.999;T|0.001		0.597	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686	
OTUD6A	139562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	69282886	69282886	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:69282886G>T	ENST00000338352.2	+	1	546	c.512G>T	c.(511-513)cGc>cTc	p.R171L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	171	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.R171P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GAGATGCTGCGCTGCCGCACC	0.617																																					p.R171L		.											.	OTUD6A-541	1	Substitution - Missense(1)	urinary_tract(1)	c.G512T						.						53.0	38.0	43.0					X																	69282886		2203	4300	6503	SO:0001583	missense	139562	exon1			TGCTGCGCTGCCG	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.512G>T	X.37:g.69282886G>T	ENSP00000339389:p.Arg171Leu	318	0		269	154	NM_207320	0	0	0	0	0	B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564179	0.65651	.	.	ENSG00000189401	ENST00000338352	T	0.76186	-1.0	4.27	3.41	0.39046	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	D	0.87842	0.6279	M	0.93763	3.455	0.22693	N	0.998846	D	0.89917	1.0	D	0.97110	1.0	T	0.79543	-0.1760	10	0.87932	D	0	.	9.5568	0.39343	0.1069:0.0:0.8931:0.0	.	171	Q7L8S5	OTU6A_HUMAN	L	171	ENSP00000339389:R171L	ENSP00000339389:R171L	R	+	2	0	OTUD6A	69199611	0.905000	0.30787	0.001000	0.08648	0.000000	0.00434	5.651000	0.67951	1.157000	0.42530	-0.208000	0.12717	CGC	.		0.617	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320	
GDPD2	54857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	69646560	69646560	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:69646560G>A	ENST00000374382.3	+	7	776	c.525G>A	c.(523-525)gtG>gtA	p.V175V	GDPD2_ENST00000453994.2_Silent_p.V175V|GDPD2_ENST00000536730.1_Silent_p.V96V|GDPD2_ENST00000472623.1_Intron|GDPD2_ENST00000538649.1_Silent_p.V96V	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	175					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CCTGGCCTGTGGCTGATACCT	0.602																																					p.V175V		.											.	GDPD2-132	0			c.G525A						.						53.0	44.0	47.0					X																	69646560		2203	4300	6503	SO:0001819	synonymous_variant	54857	exon7			GCCTGTGGCTGAT	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.525G>A	X.37:g.69646560G>A		268	0		217	137	NM_017711	0	0	0	0	0	B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP	ENST00000374382.3	37	CCDS14402.1																																																																																			.		0.602	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711	
TAF1	6872	hgsc.bcm.edu;bcgsc.ca	37	X	70683717	70683717	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:70683717delG	ENST00000373790.4	+	38	5491	c.5440delG	c.(5440-5442)gacfs	p.D1814fs	TAF1_ENST00000423759.1_Frame_Shift_Del_p.D1837fs|TAF1_ENST00000449580.1_Frame_Shift_Del_p.D1848fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.D1835fs|TAF1_ENST00000461764.1_Intron	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1814	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAACACCCAAGACACAAGCTT	0.527																																					p.D1835fs		.											.	TAF1-900	0			c.5503delG						.						96.0	67.0	77.0					X																	70683717		2203	4300	6503	SO:0001589	frameshift_variant	6872	exon38			ACCCAAGACACAA		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5440delG	X.37:g.70683717delG	ENSP00000362895:p.Asp1814fs	480	2		337	188	NM_004606	0	0	0	0	0	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Frame_Shift_Del	DEL	ENST00000373790.4	37	CCDS35325.1																																																																																			.		0.527	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
OGT	8473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	70776864	70776864	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:70776864A>T	ENST00000373719.3	+	10	1446	c.1229A>T	c.(1228-1230)gAt>gTt	p.D410V	OGT_ENST00000373701.3_Missense_Mutation_p.D400V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	410					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GAGATGCAGGATGTTCAGGGA	0.418																																					p.D410V		.											.	OGT-113	0			c.A1229T						.						98.0	78.0	85.0					X																	70776864		2203	4300	6503	SO:0001583	missense	8473	exon10			TGCAGGATGTTCA	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1229A>T	X.37:g.70776864A>T	ENSP00000362824:p.Asp410Val	320	0		207	91	NM_181672	0	0	0	0	0	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.191495	0.78902	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.21361	2.01;2.01	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.91635	0.999;0.998;0.948	T	0.38908	-0.9639	10	0.46703	T	0.11	.	14.3039	0.66373	1.0:0.0:0.0:0.0	.	284;400;410	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	V	410;400	ENSP00000362824:D410V;ENSP00000362805:D400V	ENSP00000362805:D400V	D	+	2	0	OGT	70693589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.069000	0.93967	1.953000	0.56701	0.481000	0.45027	GAT	.		0.418	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	
CXCR3	2833	broad.mit.edu	37	X	70837423	70837423	+	Intron	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:70837423T>C	ENST00000373693.3	-	2	80				CXCR3_ENST00000373691.4_Missense_Mutation_p.T14A	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCTATAACTGTCCCCGCCAGT	0.532																																					p.T14A		.											.	CXCR3-660	0			c.A40G						.						41.0	35.0	37.0					X																	70837423		692	1591	2283	SO:0001627	intron_variant	2833	exon2			TAACTGTCCCCGC	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.13-114A>G	X.37:g.70837423T>C		183	43		139	37	NM_001142797	0	0	0	0	0	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	ENST00000373693.3	37	CCDS14416.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021817	0.54576	.	.	ENSG00000186810	ENST00000373691	T	0.70282	-0.47	4.95	-2.16	0.07080	.	1.713550	0.04872	N	0.446113	T	0.53270	0.1786	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.37126	-0.9719	9	0.87932	D	0	.	0.3302	0.00317	0.259:0.2588:0.1454:0.3368	.	14	P49682-2	.	A	14	ENSP00000362795:T14A	ENSP00000362795:T14A	T	-	1	0	CXCR3	70754148	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-0.709000	0.05030	-0.624000	0.05611	0.481000	0.45027	ACA	.		0.532	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1		
NHSL2	340527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	71354404	71354404	+	5'UTR	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:71354404G>A	ENST00000373677.1	+	0	906				RGAG4_ENST00000545866.1_5'Flank|RGAG4_ENST00000609883.1_5'Flank|NHSL2_ENST00000540800.1_Missense_Mutation_p.V204M|NHSL2_ENST00000510661.1_Missense_Mutation_p.V17M|NHSL2_ENST00000535692.1_5'UTR			Q5HYW2	NHSL2_HUMAN	NHS-like 2											NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CACCCAGGGTGTGAGGGCCCC	0.582																																					p.V204M		.											.	NHSL2-108	0			c.G610A						.						70.0	59.0	63.0					X																	71354404		692	1591	2283	SO:0001623	5_prime_UTR_variant	340527	exon4			CAGGGTGTGAGGG			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.-357G>A	X.37:g.71354404G>A		343	0		250	140	NM_001013627	0	0	0	0	0	B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	g	19.14	3.769726	0.69992	.	.	ENSG00000204131	ENST00000540800;ENST00000510661	T;T	0.51071	1.43;0.72	5.17	5.17	0.71159	.	.	.	.	.	T	0.51635	0.1686	N	0.17474	0.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.50898	-0.8773	8	.	.	.	.	15.1136	0.72380	0.0:0.0:1.0:0.0	.	204;17	F5H593;D6RBM4	.;.	M	204;17	ENSP00000444617:V204M;ENSP00000424079:V17M	.	V	+	1	0	NHSL2	71271129	0.996000	0.38824	1.000000	0.80357	0.786000	0.44442	2.525000	0.45598	2.156000	0.67533	0.464000	0.42555	GTG	.		0.582	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
ZCCHC5	203430	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	77912640	77912640	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:77912640G>T	ENST00000321110.1	-	2	1573	c.1278C>A	c.(1276-1278)atC>atA	p.I426I		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	426							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GTGGGCAGTTGATTGCAGCCT	0.517																																					p.I426I		.											.	ZCCHC5-131	0			c.C1278A						.						154.0	120.0	131.0					X																	77912640		2203	4300	6503	SO:0001819	synonymous_variant	203430	exon2			GCAGTTGATTGCA	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1278C>A	X.37:g.77912640G>T		200	0		157	96	NM_152694	0	0	0	0	0	B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	37	CCDS14440.1																																																																																			.		0.517	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694	
TBX22	50945	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	79278676	79278676	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:79278676G>T	ENST00000373294.5	+	2	321	c.293G>T	c.(292-294)gGa>gTa	p.G98V	TBX22_ENST00000373296.3_Missense_Mutation_p.G98V|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373291.1_5'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	98					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAGCTTCAAGGATCTGAACTG	0.507																																					p.G98V		.											.	TBX22-628	0			c.G293T						.						85.0	75.0	78.0					X																	79278676		2203	4300	6503	SO:0001583	missense	50945	exon2			TTCAAGGATCTGA	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.293G>T	X.37:g.79278676G>T	ENSP00000362390:p.Gly98Val	286	2		190	102	NM_016954	0	0	0	0	0	Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271612	0.59649	.	.	ENSG00000122145	ENST00000373296;ENST00000373294	D;D	0.90197	-2.63;-2.63	4.92	4.92	0.64577	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94785	0.7957	10	0.37606	T	0.19	.	15.7562	0.78030	0.0:0.0:1.0:0.0	.	98	Q9Y458	TBX22_HUMAN	V	98	ENSP00000362393:G98V;ENSP00000362390:G98V	ENSP00000362390:G98V	G	+	2	0	TBX22	79165332	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	8.544000	0.90654	2.020000	0.59435	0.600000	0.82982	GGA	.		0.507	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	
BRWD3	254065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	79971694	79971694	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:79971694C>A	ENST00000373275.4	-	20	2503	c.2287G>T	c.(2287-2289)Gtt>Ttt	p.V763F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	763					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCTTTTCAACTGTATAAAGA	0.328																																					p.V763F		.											.	BRWD3-134	0			c.G2287T						.						189.0	161.0	171.0					X																	79971694		2201	4299	6500	SO:0001583	missense	254065	exon20			TTTCAACTGTATA		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2287G>T	X.37:g.79971694C>A	ENSP00000362372:p.Val763Phe	79	0		59	20	NM_153252	0	0	0	0	0	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018649	0.19355	.	.	ENSG00000165288	ENST00000373275	T	0.30714	1.52	5.17	3.22	0.36961	.	0.365138	0.31566	N	0.007423	T	0.12902	0.0313	N	0.11560	0.145	0.24250	N	0.995328	B	0.09022	0.002	B	0.08055	0.003	T	0.18398	-1.0338	9	.	.	.	-10.3297	4.7073	0.12856	0.1455:0.5212:0.2493:0.084	.	763	Q6RI45	BRWD3_HUMAN	F	763	ENSP00000362372:V763F	.	V	-	1	0	BRWD3	79858350	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.168000	0.31859	1.142000	0.42291	-0.337000	0.08149	GTT	.		0.328	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
SATL1	340562	ucsc.edu;bcgsc.ca	37	X	84362970	84362970	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:84362970G>T	ENST00000395409.3	-	1	1004	c.444C>A	c.(442-444)agC>agA	p.S148R	SATL1_ENST00000332921.5_Missense_Mutation_p.S148R|SATL1_ENST00000509231.1_Missense_Mutation_p.S335R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	148	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTCGCTCAGGCTTTGTGGCC	0.537																																					p.S335R		.											.	SATL1-175	0			c.C1005A						.						227.0	138.0	169.0					X																	84362970		2203	4300	6503	SO:0001583	missense	340562	exon1			GCTCAGGCTTTGT	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.444C>A	X.37:g.84362970G>T	ENSP00000378804:p.Ser148Arg	350	3		227	124	NM_001012980	0	0	0	0	0	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37		.	.	.	.	.	.	.	.	.	.	G	10.21	1.287508	0.23478	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.43294	0.95;0.95;0.95	1.63	1.63	0.23807	.	.	.	.	.	T	0.20292	0.0488	N	0.22421	0.69	0.09310	N	1	P;P	0.46020	0.48;0.871	B;B	0.31101	0.124;0.062	T	0.13899	-1.0492	9	0.59425	D	0.04	.	4.7927	0.13257	0.0:0.0:0.6368:0.3632	.	148;335	Q86VE3;E9PB72	SATL1_HUMAN;.	R	148;148;335	ENSP00000378804:S148R;ENSP00000329115:S148R;ENSP00000425421:S335R	ENSP00000329115:S148R	S	-	3	2	SATL1	84249626	0.002000	0.14202	0.003000	0.11579	0.019000	0.09904	0.082000	0.14847	1.100000	0.41517	0.436000	0.28706	AGC	.		0.537	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339	
DACH2	117154	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	85404068	85404068	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:85404068C>T	ENST00000373125.4	+	1	444	c.444C>T	c.(442-444)acC>acT	p.T148T	DACH2_ENST00000373131.1_Silent_p.T148T	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	148	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AACTCATCACCAGGAAAGACT	0.562																																					p.T148T		.											.	DACH2-136	0			c.C444T						.						47.0	47.0	47.0					X																	85404068		2203	4300	6503	SO:0001819	synonymous_variant	117154	exon1			CATCACCAGGAAA	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.444C>T	X.37:g.85404068C>T		116	1		81	40	NM_001139514	0	0	0	0	0	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	CCDS14455.1																																																																																			.		0.562	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
KLHL4	56062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	86890618	86890618	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:86890618T>A	ENST00000373119.4	+	9	1913	c.1768T>A	c.(1768-1770)Ttt>Att	p.F590I	KLHL4_ENST00000373114.4_Missense_Mutation_p.F590I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	590						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AATGGAATACTTTGACCCACA	0.398																																					p.F590I		.											.	KLHL4-133	0			c.T1768A						.						129.0	108.0	115.0					X																	86890618		2203	4300	6503	SO:0001583	missense	56062	exon9			GAATACTTTGACC	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1768T>A	X.37:g.86890618T>A	ENSP00000362211:p.Phe590Ile	174	0		99	26	NM_019117	0	0	0	0	0	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509375	0.85282	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.78707	-1.2;-1.2	4.59	4.59	0.56863	Galactose oxidase, beta-propeller (1);	0.109054	0.64402	D	0.000007	D	0.86602	0.5972	M	0.93978	3.48	0.49483	D	0.99979	P;P	0.39862	0.578;0.692	P;P	0.47603	0.551;0.543	D	0.89371	0.3675	10	0.87932	D	0	.	12.4181	0.55504	0.0:0.0:0.0:1.0	.	590;590	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	I	590	ENSP00000362211:F590I;ENSP00000362206:F590I	ENSP00000362206:F590I	F	+	1	0	KLHL4	86777274	1.000000	0.71417	0.863000	0.33907	0.993000	0.82548	7.313000	0.78978	1.792000	0.52537	0.417000	0.27973	TTT	.		0.398	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
PCDH11X	27328	hgsc.bcm.edu;bcgsc.ca	37	X	91132646	91132646	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:91132646T>A	ENST00000373094.1	+	2	2252	c.1407T>A	c.(1405-1407)tcT>tcA	p.S469S	PCDH11X_ENST00000395337.2_Silent_p.S469S|PCDH11X_ENST00000406881.1_Silent_p.S469S|PCDH11X_ENST00000373088.1_Silent_p.S469S|PCDH11X_ENST00000504220.2_Silent_p.S469S|PCDH11X_ENST00000298274.8_Silent_p.S469S|PCDH11X_ENST00000361655.2_Silent_p.S469S|PCDH11X_ENST00000373097.1_Silent_p.S469S|PCDH11X_ENST00000361724.1_Silent_p.S469S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCACCCAGTCTTTCGTAACTG	0.428																																					p.S469S	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	0			c.T1407A						.						62.0	56.0	58.0					X																	91132646		2203	4297	6500	SO:0001819	synonymous_variant	27328	exon2			CCAGTCTTTCGTA	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1407T>A	X.37:g.91132646T>A		448	2		283	165	NM_001168363	0	0	0	0	0	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																			.		0.428	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	91133492	91133492	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:91133492C>G	ENST00000373094.1	+	2	3098	c.2253C>G	c.(2251-2253)gtC>gtG	p.V751V	PCDH11X_ENST00000395337.2_Silent_p.V751V|PCDH11X_ENST00000406881.1_Silent_p.V751V|PCDH11X_ENST00000373088.1_Silent_p.V751V|PCDH11X_ENST00000504220.2_Silent_p.V751V|PCDH11X_ENST00000298274.8_Silent_p.V751V|PCDH11X_ENST00000361655.2_Silent_p.V751V|PCDH11X_ENST00000373097.1_Silent_p.V751V|PCDH11X_ENST00000361724.1_Silent_p.V751V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	751	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAGTGTTGGTCAAAGCTAATG	0.403																																					p.V751V	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	0			c.C2253G						.						77.0	67.0	70.0					X																	91133492		2203	4297	6500	SO:0001819	synonymous_variant	27328	exon2			GTTGGTCAAAGCT	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2253C>G	X.37:g.91133492C>G		782	0		519	292	NM_001168363	0	0	0	0	0	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	CCDS14461.1																																																																																			.		0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	91133563	91133563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:91133563C>A	ENST00000373094.1	+	2	3169	c.2324C>A	c.(2323-2325)tCg>tAg	p.S775*	PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.S775*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.S775*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	775	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGAATGAGTCGGTGACCAAT	0.438																																					p.S775X	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	0			c.C2324A						.						229.0	187.0	201.0					X																	91133563		2203	4300	6503	SO:0001587	stop_gained	27328	exon2			ATGAGTCGGTGAC	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2324C>A	X.37:g.91133563C>A	ENSP00000362186:p.Ser775*	785	2		526	312	NM_001168363	0	0	0	0	0	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	36	5.703882	0.96812	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.76	4.76	0.60689	.	0.126644	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	15.8606	0.79017	0.0:1.0:0.0:0.0	.	.	.	.	X	775	.	ENSP00000298274:S775X	S	+	2	0	PCDH11X	91020219	1.000000	0.71417	0.921000	0.36526	0.773000	0.43773	7.537000	0.82033	1.934000	0.56057	0.538000	0.68166	TCG	.		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	ucsc.edu	37	X	91873458	91873458	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:91873458G>C	ENST00000373094.1	+	7	4408	c.3563G>C	c.(3562-3564)cGa>cCa	p.R1188P	PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1180P|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1151P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1151P|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1170P|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1178P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1188					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1188L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACAGCCCACGAGTGACACAG	0.592																																					p.R1188P	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	1	Substitution - Missense(1)	lung(1)	c.G3563C						.						245.0	185.0	206.0					X																	91873458		2203	4300	6503	SO:0001583	missense	27328	exon7			GCCCACGAGTGAC	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3563G>C	X.37:g.91873458G>C	ENSP00000362186:p.Arg1188Pro	795	2		751	121	NM_032968	0	0	0	0	0	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.275396	0.00257	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.46819	0.86;0.88;0.86;0.86;0.89;0.86	3.39	2.53	0.30540	.	.	.	.	.	T	0.17662	0.0424	N	0.00926	-1.1	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.19353	-1.0308	9	0.37606	T	0.19	.	6.0318	0.19684	0.0:0.6912:0.1906:0.1182	.	1151;1170;1180;1178;1188	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	P	1188;1178;1151;1170;1180;1188;1151	ENSP00000362186:R1188P;ENSP00000362189:R1178P;ENSP00000362180:R1151P;ENSP00000355105:R1170P;ENSP00000384758:R1180P;ENSP00000298274:R1151P	ENSP00000298274:R1151P	R	+	2	0	PCDH11X	91760114	0.000000	0.05858	0.001000	0.08648	0.347000	0.29111	0.174000	0.16743	0.303000	0.22785	-0.344000	0.07964	CGA	.		0.592	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	91873488	91873488	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:91873488G>T	ENST00000373094.1	+	7	4438	c.3593G>T	c.(3592-3594)aGc>aTc	p.S1198I	PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1190I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1161I|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1161I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1180I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1188I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1198					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTCTGCCACAGCCCTCCAGTG	0.587																																					p.S1198I	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X-193	0			c.G3593T						.						247.0	184.0	206.0					X																	91873488		2203	4300	6503	SO:0001583	missense	27328	exon7			GCCACAGCCCTCC	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3593G>T	X.37:g.91873488G>T	ENSP00000362186:p.Ser1198Ile	855	1		812	136	NM_032968	0	0	0	0	0	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271768	0.59649	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.54479	0.59;0.6;0.57;0.58;0.6;0.57	3.93	3.93	0.45458	.	.	.	.	.	T	0.53029	0.1771	L	0.36672	1.1	0.28077	N	0.932338	D;D;D;D;P	0.54047	0.964;0.964;0.964;0.964;0.94	P;P;P;P;P	0.51135	0.66;0.66;0.66;0.66;0.459	T	0.50491	-0.8822	9	0.72032	D	0.01	.	12.72	0.57137	0.0:0.0:1.0:0.0	.	1161;1180;1190;1188;1198	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	I	1198;1188;1161;1180;1190;1198;1161	ENSP00000362186:S1198I;ENSP00000362189:S1188I;ENSP00000362180:S1161I;ENSP00000355105:S1180I;ENSP00000384758:S1190I;ENSP00000298274:S1161I	ENSP00000298274:S1161I	S	+	2	0	PCDH11X	91760144	0.258000	0.24033	0.805000	0.32314	0.896000	0.52359	1.103000	0.31062	1.943000	0.56356	0.466000	0.42574	AGC	.		0.587	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
DIAPH2	1730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	96724708	96724708	+	Intron	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:96724708G>T	ENST00000324765.8	+	26	3588				DIAPH2-AS1_ENST00000439759.2_RNA|DIAPH2_ENST00000355827.4_Missense_Mutation_p.C1086F|DIAPH2_ENST00000373049.4_Missense_Mutation_p.C1086F|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron			O60879	DIAP2_HUMAN	diaphanous-related formin 2						actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATCATCCCTGTGCAACAAGG	0.338																																					p.C1086F		.											.	DIAPH2-133	0			c.G3257T						.						85.0	72.0	76.0					X																	96724708		2203	4300	6503	SO:0001627	intron_variant	1730	exon27			ATCCCTGTGCAAC	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3241+39964G>T	X.37:g.96724708G>T		371	0		286	44	NM_007309	0	0	0	0	0	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405378	0.42715	.	.	ENSG00000147202	ENST00000355827;ENST00000373049;ENST00000537885	T;T	0.80480	-1.38;-1.38	4.95	0.939	0.19506	.	0.529435	0.16565	N	0.208878	T	0.67562	0.2906	L	0.34521	1.04	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.55679	-0.8103	10	0.44086	T	0.13	.	7.3297	0.26575	0.4597:0.0:0.5403:0.0	.	1086	O60879-2	.	F	1086;1086;1093	ENSP00000348082:C1086F;ENSP00000362140:C1086F	ENSP00000348082:C1086F	C	+	2	0	DIAPH2	96611364	0.000000	0.05858	0.000000	0.03702	0.854000	0.48673	0.059000	0.14322	0.073000	0.16731	-0.191000	0.12829	TGT	.		0.338	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
PCDH19	57526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	99661493	99661493	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:99661493G>C	ENST00000373034.4	-	1	3778	c.2103C>G	c.(2101-2103)atC>atG	p.I701M	PCDH19_ENST00000420881.2_Missense_Mutation_p.I701M|PCDH19_ENST00000255531.7_Missense_Mutation_p.I701M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	701					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCTTGCACTTGATTGCCACGA	0.448																																					p.I701M		.											.	PCDH19-110	0			c.C2103G						.						76.0	66.0	69.0					X																	99661493		1941	4112	6053	SO:0001583	missense	57526	exon1			GCACTTGATTGCC	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2103C>G	X.37:g.99661493G>C	ENSP00000362125:p.Ile701Met	156	0		142	54	NM_001184880	0	0	0	0	0	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517518	0.27123	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53857	0.6;0.65;0.61	5.95	2.02	0.26589	.	0.055375	0.64402	D	0.000001	T	0.46619	0.1402	L	0.32530	0.975	0.35408	D	0.792199	P;P;P	0.41748	0.761;0.745;0.628	B;P;B	0.50490	0.216;0.642;0.439	T	0.53989	-0.8360	10	0.62326	D	0.03	.	4.5677	0.12195	0.2135:0.1753:0.5236:0.0876	.	701;701;701	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	701	ENSP00000400327:I701M;ENSP00000362125:I701M;ENSP00000255531:I701M	ENSP00000255531:I701M	I	-	3	3	PCDH19	99548149	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	1.590000	0.36654	0.272000	0.22027	-0.503000	0.04515	ATC	.		0.448	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
TNMD	64102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	99854700	99854700	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:99854700C>A	ENST00000373031.4	+	7	1157	c.940C>A	c.(940-942)Ctg>Atg	p.L314M		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	314					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GGCCCGCATGCTGGGGAGGGT	0.458																																					p.L314M		.											.	TNMD-130	0			c.C940A						.						61.0	43.0	49.0					X																	99854700		2203	4299	6502	SO:0001583	missense	64102	exon7			CGCATGCTGGGGA	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.940C>A	X.37:g.99854700C>A	ENSP00000362122:p.Leu314Met	80	0		84	15	NM_022144	0	0	0	0	0	Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075520	0.55646	.	.	ENSG00000000005	ENST00000373031	T	0.51325	0.71	5.73	3.65	0.41850	.	0.000000	0.64402	D	0.000004	T	0.53433	0.1796	L	0.32530	0.975	0.50813	D	0.999893	D	0.71674	0.998	D	0.80764	0.994	T	0.53251	-0.8465	10	0.54805	T	0.06	-13.3911	9.1376	0.36883	0.0:0.6837:0.0:0.3163	.	314	Q9H2S6	TNMD_HUMAN	M	314	ENSP00000362122:L314M	ENSP00000362122:L314M	L	+	1	2	TNMD	99741356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.018000	0.30002	1.193000	0.43086	0.523000	0.50628	CTG	.		0.458	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144	
TSPAN6	7105	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	99890216	99890216	+	Nonsense_Mutation	SNP	C	C	A	rs369119853		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:99890216C>A	ENST00000373020.4	-	3	421	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	104					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						GCGACCAGTTCGACCAAAAAA	0.398																																					p.E104X		.											.	TSPAN6-131	0			c.G310T						.						83.0	60.0	68.0					X																	99890216		2199	4292	6491	SO:0001587	stop_gained	7105	exon3			CCAGTTCGACCAA	AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.310G>T	X.37:g.99890216C>A	ENSP00000362111:p.Glu104*	187	0		175	37	NM_003270	0	0	0	0	0	Q54A42|Q6IAN9	Nonsense_Mutation	SNP	ENST00000373020.4	37	CCDS14470.1	.	.	.	.	.	.	.	.	.	.	C	36	5.728757	0.96856	.	.	ENSG00000000003	ENST00000373020;ENST00000431386	.	.	.	4.93	4.06	0.47325	.	0.203398	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.423	0.61009	0.0:0.8453:0.1547:0.0	.	.	.	.	X	104;86	.	.	E	-	1	0	TSPAN6	99776872	1.000000	0.71417	0.829000	0.32907	0.896000	0.52359	7.243000	0.78219	1.080000	0.41073	-0.357000	0.07601	GAA	.		0.398	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1		
CSTF2	1478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	100093269	100093269	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100093269G>T	ENST00000372972.2	+	13	1669	c.1653G>T	c.(1651-1653)caG>caT	p.Q551H	CSTF2_ENST00000415585.2_Missense_Mutation_p.Q571H	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	551	Interaction with RPO2TC1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CTGCAGACCAGATTGCCATGT	0.403																																					p.Q551H		.											.	CSTF2-131	0			c.G1653T						.						110.0	99.0	103.0					X																	100093269		2203	4300	6503	SO:0001583	missense	1478	exon13			AGACCAGATTGCC	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1653G>T	X.37:g.100093269G>T	ENSP00000362063:p.Gln551His	218	0		195	33	NM_001325	0	0	0	0	0	Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437392	0.62955	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.45668	0.93;0.89	5.83	2.68	0.31781	.	0.289548	0.40222	N	0.001150	T	0.68824	0.3043	M	0.92412	3.305	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.995;0.997	D;D;D	0.87578	0.998;0.989;0.996	T	0.73357	-0.4008	10	0.87932	D	0	-7.3546	10.3572	0.43972	0.2971:0.0:0.7029:0.0	.	571;534;551	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	H	571;551;527	ENSP00000387996:Q571H;ENSP00000362063:Q551H	ENSP00000362063:Q551H	Q	+	3	2	CSTF2	99979925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.744000	0.55112	0.618000	0.30179	0.600000	0.82982	CAG	.		0.403	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325	
ARL13A	392509	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	100243238	100243238	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100243238C>A	ENST00000450049.2	+	7	823	c.710C>A	c.(709-711)tCa>tAa	p.S237*		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	237					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						GAACAATGCTCAATCGAAGCT	0.438																																					p.S237X		.											.	ARL13A-131	0			c.C710A						.						79.0	66.0	70.0					X																	100243238		1932	4120	6052	SO:0001587	stop_gained	392509	exon7			AATGCTCAATCGA		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.710C>A	X.37:g.100243238C>A	ENSP00000398637:p.Ser237*	454	3		490	132	NM_001162490	0	0	0	0	0	B2RTT6|B4DX50	Nonsense_Mutation	SNP	ENST00000450049.2	37	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434303	0.62955	.	.	ENSG00000174225	ENST00000450049;ENST00000372953	.	.	.	3.66	2.78	0.32641	.	1.314950	0.04999	N	0.468659	.	.	.	.	.	.	0.41484	D	0.988182	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.582	0.27970	0.253:0.747:0.0:0.0	.	.	.	.	X	237;111	.	ENSP00000362044:S111X	S	+	2	0	ARL13A	100129894	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.468000	0.22051	0.904000	0.36572	0.513000	0.50165	TCA	.		0.438	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358	
DRP2	1821	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	100509496	100509496	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100509496C>A	ENST00000395209.3	+	18	2587	c.2060C>A	c.(2059-2061)cCt>cAt	p.P687H	DRP2_ENST00000402866.1_Missense_Mutation_p.P687H|DRP2_ENST00000538510.1_Missense_Mutation_p.P687H|DRP2_ENST00000541709.1_Missense_Mutation_p.P609H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	687					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AGCAAACACCCTCAGCGAGGT	0.537																																					p.P687H		.											.	DRP2-132	0			c.C2060A						.						104.0	73.0	84.0					X																	100509496		2203	4300	6503	SO:0001583	missense	1821	exon18			AACACCCTCAGCG	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2060C>A	X.37:g.100509496C>A	ENSP00000378635:p.Pro687His	568	2		491	109	NM_001939	0	0	0	0	0	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718089	0.89205	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96926	0.9677	10	0.87932	D	0	-10.1614	17.594	0.88005	0.0:1.0:0.0:0.0	.	687	Q13474	DRP2_HUMAN	H	687;687;609;687	ENSP00000385038:P687H;ENSP00000378635:P687H;ENSP00000444752:P609H;ENSP00000441051:P687H	ENSP00000378635:P687H	P	+	2	0	DRP2	100396152	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.484000	0.81180	2.190000	0.69967	0.506000	0.49869	CCT	.		0.537	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	
BTK	695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	100615077	100615077	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100615077C>A	ENST00000308731.7	-	9	1001	c.838G>T	c.(838-840)Gag>Tag	p.E280*	BTK_ENST00000372880.1_Splice_Site_p.E280*	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	280			Missing (in XLA; severe). {ECO:0000269|PubMed:7849721}.		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATACTTACTCATACATTTCT	0.338									Agammaglobulinemia, X-linked																												p.E280X		.											.	BTK-1395	0			c.G838T	GRCh37	CM056547	BTK	M		.						180.0	154.0	163.0					X																	100615077		2203	4300	6503	SO:0001630	splice_region_variant	695	exon9	Familial Cancer Database	Bruton Type Agammaglobulinemia	CTTACTCATACAT	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.839+1G>T	X.37:g.100615077C>A		69	0		69	11	NM_000061	0	0	0	0	0	B2RAW1|Q32ML5	Nonsense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	40	8.215197	0.98709	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	.	.	.	5.98	5.98	0.97165	.	0.099573	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.9869	0.92775	0.0:1.0:0.0:0.0	.	.	.	.	X	280	.	ENSP00000308176:E280X	E	-	1	0	BTK	100501733	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.546000	0.67243	2.532000	0.85374	0.594000	0.82650	GAG	.		0.338	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	Nonsense_Mutation
ARMCX3	51566	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	100880257	100880257	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100880257C>A	ENST00000341189.4	+	5	1154	c.288C>A	c.(286-288)gcC>gcA	p.A96A	ARMCX3-AS1_ENST00000454228.1_RNA|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_Silent_p.A96A|ARMCX3_ENST00000471229.2_Silent_p.A96A	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	96					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						gggcaagggccagggctaCCC	0.547																																					p.A96A		.											.	ARMCX3-131	0			c.C288A						.						59.0	57.0	58.0					X																	100880257		2202	4300	6502	SO:0001819	synonymous_variant	51566	exon5			AAGGGCCAGGGCT	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.288C>A	X.37:g.100880257C>A		127	0		93	23	NM_016607	0	0	0	0	0	Q53HC6|Q7LCF5|Q9NPE4	Silent	SNP	ENST00000341189.4	37	CCDS14489.1																																																																																			.		0.547	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607	
ARMCX2	9823	broad.mit.edu	37	X	100911671	100911671	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:100911671C>A	ENST00000328766.5	-	5	1357	c.904G>T	c.(904-906)Gtt>Ttt	p.V302F	ARMCX2_ENST00000330154.2_Missense_Mutation_p.V302F|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Missense_Mutation_p.V302F	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	302						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCTACTTCAACTTTGCTTTTC	0.592																																					p.V302F		.											.	ARMCX2-136	0			c.G904T						.						137.0	148.0	144.0					X																	100911671		2203	4300	6503	SO:0001583	missense	9823	exon5			CTTCAACTTTGCT	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.904G>T	X.37:g.100911671C>A	ENSP00000331662:p.Val302Phe	87	2		92	14	NM_014782	0	0	0	0	0	O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778205	0.31502	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.39787	1.06;1.06;1.06	4.32	3.45	0.39498	.	0.447161	0.16584	N	0.208061	T	0.22360	0.0539	N	0.19112	0.55	0.31890	N	0.617379	P	0.41041	0.736	B	0.32465	0.146	T	0.15378	-1.0439	10	0.23302	T	0.38	-6.1098	9.5709	0.39427	0.0:0.8882:0.0:0.1118	.	302	Q7L311	ARMX2_HUMAN	F	302	ENSP00000331662:V302F;ENSP00000328631:V302F;ENSP00000349281:V302F	ENSP00000331662:V302F	V	-	1	0	ARMCX2	100798327	0.144000	0.22641	0.986000	0.45419	0.876000	0.50452	0.711000	0.25764	0.906000	0.36621	0.422000	0.28245	GTT	.		0.592	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782	
NXF5	55998	broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	101096062	101096062	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:101096062C>A	ENST00000361708.2	-	8	765	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	NXF5_ENST00000537026.1_Missense_Mutation_p.D136Y|NXF5_ENST00000473265.2_Missense_Mutation_p.D136Y			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	136					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ATATCAATGTCACGGCCCATC	0.522																																					p.D136Y		.											.	NXF5-204	0			c.G406T						.						56.0	53.0	54.0					X																	101096062		1661	3346	5007	SO:0001583	missense	55998	exon8			CAATGTCACGGCC	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.406G>T	X.37:g.101096062C>A	ENSP00000355286:p.Asp136Tyr	502	1		433	147	NM_032946	0	0	0	0	0	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37		.	.	.	.	.	.	.	.	.	.	.	12.99	2.102917	0.37145	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.60171	0.21;0.21;0.21	2.05	0.205	0.15204	.	0.533295	0.18200	U	0.148552	T	0.55657	0.1934	L	0.52206	1.635	0.38592	D	0.950457	P	0.49358	0.923	P	0.53146	0.719	T	0.56329	-0.7997	10	0.72032	D	0.01	.	4.0995	0.10007	0.0:0.5973:0.0:0.4027	.	136	A2RRM0	.	Y	136	ENSP00000442401:D136Y;ENSP00000426978:D136Y;ENSP00000355286:D136Y	ENSP00000263032:D136Y	D	-	1	0	NXF5	100982718	0.909000	0.30893	0.017000	0.16124	0.064000	0.16182	0.655000	0.24933	-0.016000	0.14127	0.267000	0.19312	GAC	.		0.522	NXF5-201	KNOWN	basic	protein_coding	protein_coding			
BEX5	340542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	101409039	101409039	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:101409039C>T	ENST00000543160.1	-	3	500	c.199G>A	c.(199-201)Gat>Aat	p.D67N	BEX5_ENST00000333643.3_Missense_Mutation_p.D67N|BEX5_ENST00000484837.1_5'Flank	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	67						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						CGTTCCATATCATCTCCATCT	0.473																																					p.D67N		.											.	BEX5-86	0			c.G199A						.						243.0	177.0	199.0					X																	101409039		2203	4300	6503	SO:0001583	missense	340542	exon3			CCATATCATCTCC	BC042818	CCDS35350.1	Xq22.1	2014-03-21	2008-11-04	2007-08-24	ENSG00000184515	ENSG00000184515			27990	protein-coding gene	gene with protein product		300693	"""NGFRAP1-like 1"", ""BEX family member 5"""	NGFRAP1L1		16221301	Standard	NM_001012978		Approved		uc004eir.3	Q5H9J7	OTTHUMG00000022049	ENST00000543160.1:c.199G>A	X.37:g.101409039C>T	ENSP00000446054:p.Asp67Asn	201	0		167	34	NM_001012978	0	0	0	0	0	Q569J0|Q56A74	Missense_Mutation	SNP	ENST00000543160.1	37	CCDS35350.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388671	0.42308	.	.	ENSG00000184515	ENST00000543160;ENST00000333643	T;T	0.12465	2.68;2.68	4.0	3.1	0.35709	.	0.000000	0.35436	N	0.003202	T	0.16557	0.0398	L	0.31845	0.965	0.26044	N	0.981574	D	0.65815	0.995	D	0.65140	0.932	T	0.04825	-1.0924	10	0.02654	T	1	.	8.5183	0.33259	0.0:0.7684:0.2316:0.0	.	67	Q5H9J7	BEX5_HUMAN	N	67	ENSP00000446054:D67N;ENSP00000328030:D67N	ENSP00000328030:D67N	D	-	1	0	BEX5	101295695	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.118000	0.41949	1.023000	0.39654	0.544000	0.68410	GAT	.		0.473	BEX5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057607.1	XM_291335	
GPRASP1	9737	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	101909810	101909810	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:101909810T>A	ENST00000361600.5	+	5	1770	c.969T>A	c.(967-969)gcT>gcA	p.A323A	GPRASP1_ENST00000537097.1_Silent_p.A323A|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.A323A|GPRASP1_ENST00000415986.1_Silent_p.A323A	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	323					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAATGAGAGCTGGGAAGGAGG	0.468																																					p.A323A		.											.	GPRASP1-131	0			c.T969A						.						84.0	84.0	84.0					X																	101909810		2203	4300	6503	SO:0001819	synonymous_variant	9737	exon3			GAGAGCTGGGAAG	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.969T>A	X.37:g.101909810T>A		70	0		46	25	NM_001099411	0	0	0	0	0	O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	CCDS35352.1																																																																																			.		0.468	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710	
GPRASP2	114928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	101970728	101970728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:101970728G>T	ENST00000535209.1	+	4	1762	c.931G>T	c.(931-933)Gag>Tag	p.E311*	GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.E311*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E311*			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	311						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGTCAGGGAGGAGGCAAATAT	0.463																																					p.E311X		.											.	GPRASP2-131	0			c.G931T						.						107.0	104.0	105.0					X																	101970728		2203	4300	6503	SO:0001587	stop_gained	114928	exon4			AGGGAGGAGGCAA	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.931G>T	X.37:g.101970728G>T	ENSP00000437394:p.Glu311*	139	0		153	41	NM_138437	0	0	0	0	0	D3DXA0|Q8NAB4	Nonsense_Mutation	SNP	ENST00000535209.1	37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	37	6.620494	0.97709	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.2	4.2	0.49525	.	0.000000	0.45867	D	0.000337	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-7.8946	8.5055	0.33184	0.0:0.0:0.7699:0.2301	.	.	.	.	X	311	.	ENSP00000339057:E311X	E	+	1	0	GPRASP2	101857384	0.843000	0.29541	0.538000	0.28064	0.052000	0.14988	1.430000	0.34914	2.344000	0.79699	0.600000	0.82982	GAG	.		0.463	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437	
BEX1	55859	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	102317893	102317893	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:102317893T>C	ENST00000372728.3	-	3	549	c.310A>G	c.(310-312)Agt>Ggt	p.S104G		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	104					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						GCCCGCAGACTATGACTCAAC	0.488																																					p.S104G		.											.	BEX1-109	0			c.A310G						.						251.0	186.0	208.0					X																	102317893		2203	4300	6503	SO:0001583	missense	55859	exon3			GCAGACTATGACT		CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.310A>G	X.37:g.102317893T>C	ENSP00000361813:p.Ser104Gly	252	1		290	62	NM_018476	0	0	0	0	0	A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	ENST00000372728.3	37	CCDS35354.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604817	0.28623	.	.	ENSG00000133169	ENST00000372728	T	0.11495	2.77	3.25	2.03	0.26663	.	0.000000	0.53938	D	0.000047	T	0.16769	0.0403	M	0.83483	2.645	0.09310	N	1	P	0.44380	0.834	P	0.45610	0.487	T	0.07868	-1.0750	10	0.41790	T	0.15	.	4.9198	0.13864	0.2739:0.0:0.0:0.7261	.	104	Q9HBH7	BEX1_HUMAN	G	104	ENSP00000361813:S104G	ENSP00000361813:S104G	S	-	1	0	BEX1	102204549	0.000000	0.05858	0.022000	0.16811	0.734000	0.41952	-0.155000	0.10115	0.442000	0.26555	0.486000	0.48141	AGT	.		0.488	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476	
NXF3	56000	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	102334159	102334159	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:102334159C>A	ENST00000395065.3	-	16	1469	c.1368G>T	c.(1366-1368)gtG>gtT	p.V456V	NXF3_ENST00000425644.1_Silent_p.V128V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	456	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTCCTTGAACACCCCGTTGA	0.577																																					p.V456V		.											.	NXF3-205	0			c.G1368T						.						246.0	216.0	226.0					X																	102334159		2203	4300	6503	SO:0001819	synonymous_variant	56000	exon16			CTTGAACACCCCG	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1368G>T	X.37:g.102334159C>A		481	2		432	194	NM_022052	0	0	0	0	0	B4DYS7|Q5H9I1|Q9H1A9	Silent	SNP	ENST00000395065.3	37	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	c	1.619	-0.522078	0.04171	.	.	ENSG00000147206	ENST00000427570	T	0.63580	-0.05	4.22	-0.134	0.13481	.	0.578501	0.17421	N	0.174810	T	0.44095	0.1277	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16958	-1.0385	7	0.20046	T	0.44	4.1432	0.6454	0.00817	0.1714:0.3403:0.1659:0.3224	.	.	.	.	F	333	ENSP00000404017:V333F	ENSP00000404017:V333F	V	-	1	0	NXF3	102220815	0.125000	0.22332	0.336000	0.25522	0.396000	0.30629	-0.998000	0.03701	0.009000	0.14813	-0.286000	0.09958	GTT	.		0.577	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052	
BEX4	56271	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	102471392	102471392	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:102471392G>T	ENST00000372695.5	+	3	546	c.311G>T	c.(310-312)cGc>cTc	p.R104L	BEX4_ENST00000372691.3_Missense_Mutation_p.R104L	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	104						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						CACTATATGCGCTTCCAAACT	0.418																																					p.R104L		.											.	BEX4-62	0			c.G311T						.						196.0	169.0	178.0					X																	102471392		2203	4300	6503	SO:0001583	missense	56271	exon3			ATATGCGCTTCCA	AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"""brain expressed X-linked-like 1"", ""BEX family member 4"""	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.311G>T	X.37:g.102471392G>T	ENSP00000361780:p.Arg104Leu	309	2		323	118	NM_001080425	0	0	0	0	0		Missense_Mutation	SNP	ENST00000372695.5	37	CCDS35355.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320306	0.41096	.	.	ENSG00000102409	ENST00000372695;ENST00000372691	T;T	0.49139	0.79;0.79	3.84	0.98	0.19750	.	0.159217	0.30277	N	0.009992	T	0.53498	0.1800	M	0.76170	2.325	0.09310	N	1	P	0.51057	0.941	P	0.49597	0.616	T	0.52290	-0.8595	10	0.66056	D	0.02	.	10.8766	0.46915	0.0:0.5734:0.4266:0.0	.	104	Q9NWD9	BEX4_HUMAN	L	104	ENSP00000361780:R104L;ENSP00000361776:R104L	ENSP00000361776:R104L	R	+	2	0	BEX4	102358048	0.001000	0.12720	0.000000	0.03702	0.829000	0.46940	0.330000	0.19715	0.075000	0.16796	-0.226000	0.12346	CGC	.		0.418	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	XM_043653	
RAB40A	142684	bcgsc.ca	37	X	102755188	102755188	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:102755188G>T	ENST00000372633.1	-	1	2615	c.497C>A	c.(496-498)tCt>tAt	p.S166Y	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.S166Y			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	166					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CTCCGTGAAAGACTCTATGAT	0.602																																					p.S166Y		.											.	RAB40A-227	0			c.C497A						.						42.0	36.0	38.0					X																	102755188		2203	4297	6500	SO:0001583	missense	142684	exon3			GTGAAAGACTCTA	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"""RAB, member RAS oncogene"""	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.497C>A	X.37:g.102755188G>T	ENSP00000361716:p.Ser166Tyr	281	3		307	94	NM_080879	0	0	0	0	0	O00407|Q17RQ5|Q6DK06|Q8TF06	Missense_Mutation	SNP	ENST00000372633.1	37	CCDS35357.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.046113	0.75846	.	.	ENSG00000172476	ENST00000372633;ENST00000304236	T;T	0.79749	-1.3;-1.3	0.225	0.225	0.15325	.	0.000000	0.47093	U	0.000245	D	0.86192	0.5874	M	0.83774	2.66	0.58432	D	0.999999	D	0.67145	0.996	D	0.65573	0.936	D	0.83790	0.0230	10	0.87932	D	0	.	6.1796	0.20463	4.0E-4:0.0:0.9996:0.0	.	166	Q8WXH6	RB40A_HUMAN	Y	166	ENSP00000361716:S166Y;ENSP00000305648:S166Y	ENSP00000305648:S166Y	S	-	2	0	RAB40A	102641844	1.000000	0.71417	0.917000	0.36280	0.918000	0.54935	6.590000	0.74085	0.280000	0.22209	0.284000	0.19432	TCT	.		0.602	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1		
TCEAL1	9338	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	102884854	102884854	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:102884854C>A	ENST00000372625.3	+	3	174	c.10C>A	c.(10-12)Cca>Aca	p.P4T	TCEAL1_ENST00000469820.1_3'UTR|TCEAL1_ENST00000372624.3_Missense_Mutation_p.P4T|TCEAL1_ENST00000372626.3_Missense_Mutation_p.P4T	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	4					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1						CATGGACAAACCACGCAAAGA	0.512																																					p.P4T		.											.	TCEAL1-131	0			c.C10A						.						10.0	9.0	9.0					X																	102884854		2121	4169	6290	SO:0001583	missense	9338	exon3			GACAAACCACGCA	M99701	CCDS35358.1	Xq22.1	2014-03-21			ENSG00000172465	ENSG00000172465			11616	protein-coding gene	gene with protein product		300237				8206389, 7971997, 16221301	Standard	NM_004780		Approved	p21, pp21, SIIR, P21, WEX9	uc004eku.3	Q15170	OTTHUMG00000022699	ENST00000372625.3:c.10C>A	X.37:g.102884854C>A	ENSP00000361708:p.Pro4Thr	66	1		71	18	NM_001006639	0	0	0	0	0	Q9UJQ9	Missense_Mutation	SNP	ENST00000372625.3	37	CCDS35358.1	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642832	0.14451	.	.	ENSG00000172465	ENST00000372626;ENST00000537029;ENST00000372625;ENST00000372624	T;T;T	0.10192	2.9;2.9;2.9	4.3	-4.16	0.03869	.	1.274680	0.05648	N	0.584668	T	0.03095	0.0091	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37174	-0.9717	9	0.02654	T	1	-2.6246	3.4581	0.07523	0.1353:0.5616:0.147:0.1561	.	4	Q15170-2	.	T	4	ENSP00000361709:P4T;ENSP00000361708:P4T;ENSP00000361707:P4T	ENSP00000361707:P4T	P	+	1	0	TCEAL1	102771510	0.000000	0.05858	0.005000	0.12908	0.572000	0.35998	-1.065000	0.03458	-0.999000	0.03442	-0.380000	0.06706	CCA	.		0.512	TCEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058903.1	NM_004780	
H2BFM	286436	bcgsc.ca	37	X	103294687	103294687	+	Missense_Mutation	SNP	C	C	A	rs200102787		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:103294687C>A	ENST00000355016.3	+	1	172	c.144C>A	c.(142-144)caC>caA	p.H48Q	H2BFM_ENST00000243297.5_Missense_Mutation_p.H151Q	NM_001164416.1	NP_001157888.1	P0C1H6	H2BFM_HUMAN	H2B histone family, member M	48						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(1)|ovary(1)	3						GCAGGCGCCACGCCAACCGCC	0.672																																					p.H48Q		.											.	H2BFM-109	0			c.C144A						.						27.0	33.0	32.0					X																	103294687		692	1591	2283	SO:0001583	missense	286436	exon1			GCGCCACGCCAAC	AK093522	CCDS55468.1	Xq22.2	2011-01-27			ENSG00000101812	ENSG00000101812		"""Histones / Replication-independent"""	27867	protein-coding gene	gene with protein product							Standard	NM_001164416		Approved		uc004els.2	P0C1H6	OTTHUMG00000022122	ENST00000355016.3:c.144C>A	X.37:g.103294687C>A	ENSP00000347119:p.His48Gln	302	2		405	133	NM_001164416	0	0	0	0	0	A6NP82	Missense_Mutation	SNP	ENST00000355016.3	37	CCDS55468.1	.	.	.	.	.	.	.	.	.	.	.	12.09	1.834434	0.32421	.	.	ENSG00000101812	ENST00000243297;ENST00000355016	T;T	0.21191	2.02;2.02	1.52	-0.603	0.11630	Histone-fold (2);	.	.	.	.	T	0.24044	0.0582	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	D	0.77004	0.989	T	0.14448	-1.0472	9	0.40728	T	0.16	.	3.5774	0.07940	0.2341:0.5693:0.0:0.1965	.	151	P0C1H6	H2BFM_HUMAN	Q	151;48	ENSP00000243297:H151Q;ENSP00000347119:H48Q	ENSP00000243297:H151Q	H	+	3	2	H2BFM	103181343	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.907000	0.01589	-0.784000	0.04528	-1.480000	0.00990	CAC	.		0.672	H2BFM-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057758.2	XM_210048	
SLC25A53	401612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	103349892	103349892	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:103349892G>T	ENST00000357421.4	-	2	229	c.49C>A	c.(49-51)Cga>Aga	p.R17R		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	17					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GCCTCTGCTCGCGTCCTGTGC	0.517																																					p.R17R		.											.	.	0			c.C49A						.						53.0	49.0	51.0					X																	103349892		2201	4300	6501	SO:0001819	synonymous_variant	401612	exon2			CTGCTCGCGTCCT		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.49C>A	X.37:g.103349892G>T		208	0		209	69	NM_001012755	0	0	0	0	0	B2RTT9	Silent	SNP	ENST00000357421.4	37	CCDS35363.1																																																																																			.		0.517	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755	
TEX13A	56157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	104464179	104464179	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:104464179C>A	ENST00000413579.1	-	5	808	c.697G>T	c.(697-699)Gcc>Tcc	p.A233S	TEX13A_ENST00000372575.1_Silent_p.L233L|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Silent_p.L233L|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	233							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCCATGGAGGCAGCCCTGGCC	0.622																																					p.A233S		.											.	TEX13A-132	0			c.G697T						.						25.0	26.0	26.0					X																	104464179		1974	4131	6105	SO:0001583	missense	56157	exon5			TGGAGGCAGCCCT	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.697G>T	X.37:g.104464179C>A	ENSP00000399753:p.Ala233Ser	47	0		48	14	NM_031274	0	0	0	0	0	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	C	3.316	-0.139793	0.06669	.	.	ENSG00000133149	ENST00000413579	.	.	.	1.82	-3.63	0.04529	.	1.503760	0.04809	N	0.434860	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09314	-1.0680	9	0.20046	T	0.44	.	0.661	0.00842	0.3986:0.2444:0.1968:0.1602	.	233	Q9BXU3	TX13A_HUMAN	S	233	.	ENSP00000399753:A233S	A	-	1	0	TEX13A	104350835	.	.	0.000000	0.03702	0.004000	0.04260	.	.	-1.370000	0.02144	-0.536000	0.04276	GCC	.		0.622	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274	
TEX13A	56157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	104465051	104465051	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:104465051C>A	ENST00000413579.1	-	2	142	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	TEX13A_ENST00000372575.1_Missense_Mutation_p.G11W|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.G11W|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	11							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGCCGGAACCCGCTACTGGGG	0.537																																					p.G11W		.											.	TEX13A-132	0			c.G31T						.						44.0	43.0	43.0					X																	104465051		2203	4300	6503	SO:0001583	missense	56157	exon2			GGAACCCGCTACT	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.31G>T	X.37:g.104465051C>A	ENSP00000399753:p.Gly11Trp	71	0		90	33	NM_031274	0	0	0	0	0	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	C	13.37	2.215752	0.39102	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.48	2.61	0.31194	.	0.000000	0.35179	N	0.003395	T	0.56877	0.2015	.	.	.	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43893	-0.9363	8	0.87932	D	0	.	5.8254	0.18550	0.0:0.8501:0.0:0.1499	.	11;11	C9JWK0;Q9BXU3	.;TX13A_HUMAN	W	11	.	ENSP00000361656:G11W	G	-	1	0	TEX13A	104351707	0.345000	0.24835	0.008000	0.14137	0.009000	0.06853	2.676000	0.46883	0.843000	0.35070	0.506000	0.49869	GGG	.		0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274	
IL1RAPL2	26280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	105011209	105011209	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105011209C>A	ENST00000372582.1	+	11	2372	c.1616C>A	c.(1615-1617)tCc>tAc	p.S539Y	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.S539Y	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	539	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGGAAGGGATCCAAAAGCAGC	0.398																																					p.S539Y		.											.	IL1RAPL2-194	0			c.C1616A						.						107.0	113.0	111.0					X																	105011209		2203	4300	6503	SO:0001583	missense	26280	exon11			AGGGATCCAAAAG	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1616C>A	X.37:g.105011209C>A	ENSP00000361663:p.Ser539Tyr	190	0		162	62	NM_017416	0	0	0	0	0	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622135	0.46840	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.02606	4.23;4.23;4.23	5.87	5.87	0.94306	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.085071	0.51477	D	0.000087	T	0.03178	0.0093	N	0.24115	0.695	0.24904	N	0.992082	B	0.30236	0.274	B	0.22601	0.04	T	0.41945	-0.9480	10	0.62326	D	0.03	.	17.9632	0.89092	0.0:1.0:0.0:0.0	.	539	Q9NP60	IRPL2_HUMAN	Y	539;539;144	ENSP00000361663:S539Y;ENSP00000344976:S539Y;ENSP00000445576:S144Y	ENSP00000344976:S539Y	S	+	2	0	IL1RAPL2	104897865	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.463000	0.83235	0.600000	0.82982	TCC	.		0.398	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416	
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	105132287	105132287	+	Splice_Site	SNP	G	G	T	rs267606298		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105132287G>T	ENST00000243300.9	+	5	556	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	NRK_ENST00000428173.2_Splice_Site_p.D85Y|NRK_ENST00000536164.1_Splice_Site_p.D85Y	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TATTCCATAGGATGAGGAAGA	0.403										HNSCC(51;0.14)																											p.D85Y		.											.	NRK-630	0			c.G253T						.						90.0	75.0	80.0					X																	105132287		1880	4094	5974	SO:0001630	splice_region_variant	203447	exon5			CCATAGGATGAGG	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.253-1G>T	X.37:g.105132287G>T		405	1		393	145	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	14.08	2.429831	0.43122	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.37235	1.77;1.77;1.21	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	D	0.000406	T	0.55114	0.1900	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55244	-0.8171	9	.	.	.	.	10.6593	0.45694	0.097:0.0:0.903:0.0	.	85	Q7Z2Y5	NRK_HUMAN	Y	85	ENSP00000434830:D85Y;ENSP00000438378:D85Y;ENSP00000438785:D85Y	.	D	+	1	0	NRK	105018943	1.000000	0.71417	0.999000	0.59377	0.164000	0.22412	7.569000	0.82380	2.173000	0.68751	0.594000	0.82650	GAT	.		0.403	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	Missense_Mutation
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	105153825	105153825	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105153825G>T	ENST00000243300.9	+	13	2495	c.2192G>T	c.(2191-2193)tGg>tTg	p.W731L	NRK_ENST00000428173.2_Missense_Mutation_p.W732L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	731					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAACGCAGATGGGAAGATATC	0.398										HNSCC(51;0.14)																											p.W731L		.											.	NRK-630	0			c.G2192T						.						17.0	14.0	15.0					X																	105153825		1861	4084	5945	SO:0001583	missense	203447	exon13			GCAGATGGGAAGA	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2192G>T	X.37:g.105153825G>T	ENSP00000434830:p.Trp731Leu	295	0		273	68	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	6.705	0.498685	0.12762	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.76186	-0.99;-1.0	4.39	4.39	0.52855	.	0.152207	0.31554	N	0.007441	T	0.71676	0.3368	L	0.29908	0.895	0.80722	D	1	D;P	0.57257	0.979;0.58	P;B	0.51615	0.675;0.254	T	0.76085	-0.3088	10	0.87932	D	0	.	13.799	0.63188	0.0:0.0:1.0:0.0	.	399;731	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	L	731;732	ENSP00000434830:W731L;ENSP00000438378:W732L	ENSP00000434830:W731L	W	+	2	0	NRK	105040481	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	1.359000	0.34113	2.427000	0.82271	0.600000	0.82982	TGG	.		0.398	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	105178368	105178368	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105178368C>G	ENST00000243300.9	+	20	3734	c.3431C>G	c.(3430-3432)tCt>tGt	p.S1144C	NRK_ENST00000428173.2_Missense_Mutation_p.S1145C	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1144					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCAGATTTTTCTGCCAATCAC	0.443										HNSCC(51;0.14)																											p.S1144C		.											.	NRK-630	0			c.C3431G						.						163.0	150.0	155.0					X																	105178368		1974	4154	6128	SO:0001583	missense	203447	exon20			ATTTTTCTGCCAA	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3431C>G	X.37:g.105178368C>G	ENSP00000434830:p.Ser1144Cys	298	0		320	92	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	C	9.126	1.010219	0.19277	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.78364	-1.16;-1.17	4.42	3.56	0.40772	.	0.442914	0.19529	N	0.112094	T	0.73024	0.3534	N	0.24115	0.695	0.23238	N	0.998065	D;P	0.59357	0.985;0.876	P;B	0.55999	0.789;0.417	T	0.63139	-0.6704	10	0.66056	D	0.02	.	7.1537	0.25624	0.0:0.8789:0.0:0.1211	.	812;1144	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	C	1144;1145	ENSP00000434830:S1144C;ENSP00000438378:S1145C	ENSP00000434830:S1144C	S	+	2	0	NRK	105065024	0.796000	0.28864	0.060000	0.19600	0.036000	0.12997	1.220000	0.32491	1.208000	0.43306	0.600000	0.82982	TCT	.		0.443	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	105187993	105187993	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105187993C>A	ENST00000243300.9	+	24	4322	c.4019C>A	c.(4018-4020)gCa>gAa	p.A1340E	NRK_ENST00000428173.2_Missense_Mutation_p.A1341E	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1340	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CACCTTTATGCATGGGCACCA	0.318										HNSCC(51;0.14)																											p.A1340E		.											.	NRK-630	0			c.C4019A						.						116.0	95.0	102.0					X																	105187993		1848	4089	5937	SO:0001583	missense	203447	exon24			TTTATGCATGGGC	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4019C>A	X.37:g.105187993C>A	ENSP00000434830:p.Ala1340Glu	304	0		364	115	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	C	18.64	3.666759	0.67814	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.03580	3.88;3.88	5.44	2.98	0.34508	Citron-like (2);	0.300318	0.24256	N	0.040136	T	0.13372	0.0324	M	0.70595	2.14	0.80722	D	1	D	0.63046	0.992	P	0.60012	0.867	T	0.00201	-1.1926	10	0.87932	D	0	.	12.666	0.56842	0.0:0.8983:0.0:0.1017	.	1340	Q7Z2Y5	NRK_HUMAN	E	1340;1341	ENSP00000434830:A1340E;ENSP00000438378:A1341E	ENSP00000434830:A1340E	A	+	2	0	NRK	105074649	1.000000	0.71417	0.729000	0.30791	0.956000	0.61745	3.481000	0.53179	0.314000	0.23086	0.594000	0.82650	GCA	.		0.318	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	105197070	105197070	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105197070A>G	ENST00000243300.9	+	28	4861	c.4558A>G	c.(4558-4560)Att>Gtt	p.I1520V	NRK_ENST00000428173.2_Missense_Mutation_p.I1521V|NRK_ENST00000540278.1_Missense_Mutation_p.I101V	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1520	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCAAAAGGCCATTGAAGTGCG	0.443										HNSCC(51;0.14)																											p.I1520V		.											.	NRK-630	0			c.A4558G						.						52.0	49.0	50.0					X																	105197070		1863	4105	5968	SO:0001583	missense	203447	exon28			AAGGCCATTGAAG	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4558A>G	X.37:g.105197070A>G	ENSP00000434830:p.Ile1520Val	239	0		299	130	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	A	14.30	2.495468	0.44352	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000540278	T;T;T	0.04603	3.59;3.59;3.59	5.88	3.36	0.38483	Citron-like (2);	0.326871	0.22302	N	0.061859	T	0.04952	0.0133	L	0.41236	1.265	0.43390	D	0.995502	B;B	0.19200	0.001;0.034	B;B	0.16722	0.007;0.016	T	0.36407	-0.9749	10	0.51188	T	0.08	.	7.6194	0.28177	0.7872:0.1384:0.0744:0.0	.	101;1520	B7Z1I7;Q7Z2Y5	.;NRK_HUMAN	V	1520;1521;101	ENSP00000434830:I1520V;ENSP00000438378:I1521V;ENSP00000438148:I101V	ENSP00000434830:I1520V	I	+	1	0	NRK	105083726	0.996000	0.38824	0.997000	0.53966	0.971000	0.66376	2.988000	0.49386	0.271000	0.22005	0.486000	0.48141	ATT	.		0.443	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
SERPINA7	6906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	105279361	105279361	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:105279361G>A	ENST00000327674.4	-	2	973	c.638C>T	c.(637-639)cCt>cTt	p.P213L	SERPINA7_ENST00000372563.1_Missense_Mutation_p.P213L|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	213					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGGATCAAAAGGATTTGCCCA	0.393																																					p.P213L		.											.	SERPINA7-226	0			c.C638T						.						154.0	140.0	145.0					X																	105279361		2203	4300	6503	SO:0001583	missense	6906	exon3			TCAAAAGGATTTG	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.638C>T	X.37:g.105279361G>A	ENSP00000329374:p.Pro213Leu	140	0		115	34	NM_000354	0	0	0	0	0	D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228578	0.58777	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.85339	-1.97;-1.97	4.41	3.55	0.40652	Serpin domain (3);	0.000000	0.64402	D	0.000006	D	0.93177	0.7827	M	0.93594	3.435	0.51767	D	0.999935	D	0.89917	1.0	D	0.91635	0.999	D	0.93039	0.6455	10	0.87932	D	0	.	9.3443	0.38098	0.1091:0.0:0.8909:0.0	.	213	P05543	THBG_HUMAN	L	213	ENSP00000329374:P213L;ENSP00000361644:P213L	ENSP00000329374:P213L	P	-	2	0	SERPINA7	105166017	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.157000	0.64911	0.988000	0.38734	0.594000	0.82650	CCT	.		0.393	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354	
TBC1D8B	54885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	106083404	106083404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:106083404G>T	ENST00000357242.5	+	9	1654	c.1480G>T	c.(1480-1482)Gga>Tga	p.G494*	TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.G488*|TBC1D8B_ENST00000310452.2_Nonsense_Mutation_p.G494*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	494	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AACATTAAGAGGAGAACTCTG	0.358																																					p.G494X		.											.	TBC1D8B-133	0			c.G1480T						.						134.0	125.0	128.0					X																	106083404		2203	4300	6503	SO:0001587	stop_gained	54885	exon9			TTAAGAGGAGAAC	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1480G>T	X.37:g.106083404G>T	ENSP00000349781:p.Gly494*	394	0		392	131	NM_198881	0	0	0	0	0	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Nonsense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	40	8.383069	0.98786	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-18.8843	17.2364	0.87000	0.0:0.0:1.0:0.0	.	.	.	.	X	494;494;488	.	ENSP00000276175:G488X	G	+	1	0	TBC1D8B	105970060	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.813000	0.99286	2.474000	0.83562	0.600000	0.82982	GGA	.		0.358	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	
CLDN2	9075	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	106172103	106172103	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:106172103C>A	ENST00000541806.1	+	2	1164	c.645C>A	c.(643-645)ccC>ccA	p.P215P	CLDN2_ENST00000336803.1_Silent_p.P215P|CLDN2_ENST00000540876.1_Silent_p.P215P	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	215					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GTCAACCTCCCAAAGTCAAGA	0.542																																					p.P215P		.											.	CLDN2-131	0			c.C645A						.						94.0	84.0	88.0					X																	106172103		2203	4300	6503	SO:0001819	synonymous_variant	9075	exon2			ACCTCCCAAAGTC	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.645C>A	X.37:g.106172103C>A		104	1		130	40	NM_001171092	0	0	0	0	0	B2R6B9	Silent	SNP	ENST00000541806.1	37	CCDS14524.1																																																																																			.		0.542	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1		
MORC4	79710	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	106185911	106185911	+	Missense_Mutation	SNP	G	G	T	rs150736453		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:106185911G>T	ENST00000355610.4	-	15	2484	c.2210C>A	c.(2209-2211)tCt>tAt	p.S737Y	MORC4_ENST00000255495.7_Missense_Mutation_p.S737Y|MORC4_ENST00000535534.1_Missense_Mutation_p.S485Y	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	737						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GATTGCAGCAGAGGCCACAGA	0.502																																					p.S737Y		.											.	MORC4-131	0			c.C2210A						.						134.0	127.0	129.0					X																	106185911		2203	4300	6503	SO:0001583	missense	79710	exon15			GCAGCAGAGGCCA	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.2210C>A	X.37:g.106185911G>T	ENSP00000347821:p.Ser737Tyr	130	2		184	71	NM_001085354	0	0	0	0	0	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	g	13.63	2.293623	0.40594	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.32753	2.69;1.44;2.68	3.09	3.09	0.35607	.	0.739778	0.11681	N	0.539829	T	0.44644	0.1303	L	0.47716	1.5	0.30751	N	0.745167	D;D;D	0.61697	0.989;0.989;0.99	P;D;D	0.71656	0.857;0.923;0.974	T	0.35525	-0.9785	10	0.46703	T	0.11	-7.228	8.8966	0.35467	0.0:0.0:1.0:0.0	.	485;737;737	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	Y	737;485;737	ENSP00000347821:S737Y;ENSP00000440359:S485Y;ENSP00000255495:S737Y	ENSP00000255495:S737Y	S	-	2	0	MORC4	106072567	0.019000	0.18553	0.843000	0.33291	0.995000	0.86356	1.744000	0.38268	1.830000	0.53286	0.597000	0.82753	TCT	G|1.000;A|0.000		0.502	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657	
MORC4	79710	bcgsc.ca	37	X	106242923	106242923	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:106242923G>T	ENST00000355610.4	-	2	433	c.159C>A	c.(157-159)gcC>gcA	p.A53A	MORC4_ENST00000255495.7_Silent_p.A53A|MORC4_ENST00000535534.1_5'UTR	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	53						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GCTCCGCGATGGCACTGAAGG	0.711																																					p.A53A		.											.	MORC4-131	0			c.C159A						.						8.0	11.0	10.0					X																	106242923		1881	3891	5772	SO:0001819	synonymous_variant	79710	exon2			CGCGATGGCACTG	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.159C>A	X.37:g.106242923G>T		42	1		166	72	NM_001085354	0	0	0	0	0	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Silent	SNP	ENST00000355610.4	37	CCDS14525.2																																																																																			.		0.711	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657	
COL4A6	1288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	107420097	107420097	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:107420097C>A	ENST00000372216.4	-	28	2763	c.2663G>T	c.(2662-2664)gGg>gTg	p.G888V	COL4A6_ENST00000545689.1_Missense_Mutation_p.G887V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G887V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G887V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G888V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	888	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCTGGCAACCCAGCGACCCC	0.547									Alport syndrome with Diffuse Leiomyomatosis																												p.G888V	Melanoma(87;1895 1945 2589 7165)	.											.	COL4A6-199	0			c.G2663T						.						119.0	121.0	120.0					X																	107420097		2203	4300	6503	SO:0001583	missense	1288	exon28	Familial Cancer Database		GGCAACCCAGCGA	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2663G>T	X.37:g.107420097C>A	ENSP00000361290:p.Gly888Val	123	0		166	60	NM_001847	0	0	0	0	0	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.497216	0.26861	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99637	-4.85;-4.85;-4.85;-6.29;-6.29	4.28	4.28	0.50868	.	0.000000	0.43110	D	0.000606	D	0.99799	0.9914	H	0.97896	4.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96630	0.9466	10	0.87932	D	0	.	16.9041	0.86122	0.0:1.0:0.0:0.0	.	887;887;888;887	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	V	888;887;888;887;887;887	ENSP00000361290:G888V;ENSP00000334733:G887V;ENSP00000378340:G888V;ENSP00000443707:G887V;ENSP00000445236:G887V	ENSP00000334733:G887V	G	-	2	0	COL4A6	107306753	1.000000	0.71417	0.367000	0.25926	0.098000	0.18820	6.409000	0.73289	2.378000	0.81104	0.436000	0.28706	GGG	.		0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
COL4A5	1287	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	107911571	107911571	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:107911571A>T	ENST00000361603.2	+	41	3871	c.3627A>T	c.(3625-3627)ttA>ttT	p.L1209F	COL4A5_ENST00000328300.6_Missense_Mutation_p.L1209F	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1209	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATGGAGGATTACCTGGGATTC	0.473									Alport syndrome with Diffuse Leiomyomatosis																												p.L1209F		.											.	COL4A5-133	0			c.A3627T						.						61.0	57.0	58.0					X																	107911571		2203	4300	6503	SO:0001583	missense	1287	exon41	Familial Cancer Database		AGGATTACCTGGG	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3627A>T	X.37:g.107911571A>T	ENSP00000354505:p.Leu1209Phe	274	2		294	78	NM_000495	0	0	0	0	0	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	A	3.989	-0.004806	0.07773	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93604	-3.25;-3.25	5.97	0.466	0.16716	.	0.638067	0.15473	N	0.260510	T	0.80380	0.4612	N	0.20328	0.56	0.30880	N	0.731567	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.67043	-0.5770	10	0.02654	T	1	.	0.6698	0.00857	0.4423:0.1201:0.2062:0.2314	.	1209;1209	E7EVY4;P29400	.;CO4A5_HUMAN	F	1209	ENSP00000331902:L1209F;ENSP00000354505:L1209F	ENSP00000331902:L1209F	L	+	3	2	COL4A5	107798227	0.049000	0.20398	0.999000	0.59377	0.794000	0.44872	-0.299000	0.08254	0.316000	0.23135	0.481000	0.45027	TTA	.		0.473	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
IRS4	8471	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	107976957	107976957	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:107976957G>A	ENST00000372129.2	-	1	2694	c.2618C>T	c.(2617-2619)cCt>cTt	p.P873L	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	873					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGGCTTTGAAGGTGATCCCCC	0.438																																					p.P873L		.											.	IRS4-623	0			c.C2618T						.						176.0	183.0	180.0					X																	107976957		2203	4300	6503	SO:0001583	missense	8471	exon1			TTTGAAGGTGATC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2618C>T	X.37:g.107976957G>A	ENSP00000361202:p.Pro873Leu	137	0		117	35	NM_003604	0	0	0	0	0		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	6.850	0.526009	0.13066	.	.	ENSG00000133124	ENST00000372129	T	0.20738	2.05	5.08	1.27	0.21489	.	0.927814	0.09253	N	0.827651	T	0.14356	0.0347	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	10	0.32370	T	0.25	1.1299	4.9432	0.13976	0.3095:0.2705:0.4199:0.0	.	873	O14654	IRS4_HUMAN	L	873	ENSP00000361202:P873L	ENSP00000361202:P873L	P	-	2	0	IRS4	107863613	0.005000	0.15991	0.000000	0.03702	0.022000	0.10575	0.259000	0.18405	-0.073000	0.12842	-0.190000	0.12839	CCT	.		0.438	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
GUCY2F	2986	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	108708517	108708517	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:108708517G>T	ENST00000218006.2	-	3	1177	c.886C>A	c.(886-888)Cgg>Agg	p.R296R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	296			R -> Q (in dbSNP:rs502209). {ECO:0000269|PubMed:7777544}.		intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTTAGGACCCGGTAGGGGGTG	0.468																																					p.R296R		.											.	GUCY2F-540	0			c.C886A						.						141.0	118.0	126.0					X																	108708517		2203	4300	6503	SO:0001819	synonymous_variant	2986	exon3			GGACCCGGTAGGG	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.886C>A	X.37:g.108708517G>T		212	1		234	84	NM_001522	0	0	0	0	0	Q9UJF1	Silent	SNP	ENST00000218006.2	37	CCDS14545.1																																																																																			.		0.468	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
AMMECR1	9949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	109507776	109507776	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:109507776G>C	ENST00000262844.5	-	2	692	c.525C>G	c.(523-525)tgC>tgG	p.C175W	AMMECR1_ENST00000372059.2_Intron|AMMECR1_ENST00000372057.1_Missense_Mutation_p.C52W	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	175	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						AAGTACCTATGCATCCACGTA	0.363																																					p.C175W		.											.	AMMECR1-130	0			c.C525G						.						157.0	142.0	147.0					X																	109507776		2203	4300	6503	SO:0001583	missense	9949	exon2			ACCTATGCATCCA	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.525C>G	X.37:g.109507776G>C	ENSP00000262844:p.Cys175Trp	334	0		375	105	NM_015365	0	0	0	0	0	Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	ENST00000262844.5	37	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442989	0.63067	.	.	ENSG00000101935	ENST00000262844;ENST00000372057	.	.	.	5.41	5.41	0.78517	AMMECR1 domain (2);	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93547	0.6883	8	.	.	.	-25.6047	12.8036	0.57601	0.0801:0.0:0.9198:0.0	.	175	Q9Y4X0	AMER1_HUMAN	W	175;52	.	.	C	-	3	2	AMMECR1	109394432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.075000	0.71261	2.402000	0.81655	0.600000	0.82982	TGC	.		0.363	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1		
RGAG1	57529	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	109696335	109696335	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:109696335G>C	ENST00000465301.2	+	3	2736	c.2490G>C	c.(2488-2490)atG>atC	p.M830I	RGAG1_ENST00000540313.1_Missense_Mutation_p.M830I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	830										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCTGGAATGATGTCATCCA	0.527																																					p.M830I		.											.	RGAG1-132	0			c.G2490C						.						145.0	137.0	140.0					X																	109696335		2203	4300	6503	SO:0001583	missense	57529	exon3			TGGAATGATGTCA	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2490G>C	X.37:g.109696335G>C	ENSP00000419786:p.Met830Ile	175	0		187	60	NM_020769	0	0	0	0	0	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.235477	0.01505	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.40476	1.03;1.03	4.26	2.5	0.30297	.	0.614814	0.13504	N	0.383057	T	0.33847	0.0877	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22103	-1.0226	9	.	.	.	1.8579	7.886	0.29651	0.2131:0.0:0.7869:0.0	.	830	Q8NET4	RGAG1_HUMAN	I	830	ENSP00000419786:M830I;ENSP00000441452:M830I	.	M	+	3	0	RGAG1	109582991	0.536000	0.26378	0.500000	0.27589	0.776000	0.43924	1.187000	0.32090	0.560000	0.29169	-0.322000	0.08575	ATG	.		0.527	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
RGAG1	57529	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	109696663	109696663	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:109696663C>A	ENST00000465301.2	+	3	3064	c.2818C>A	c.(2818-2820)Caa>Aaa	p.Q940K	RGAG1_ENST00000540313.1_Missense_Mutation_p.Q940K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	940										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GTCCACTGCACAAACAACAGC	0.522																																					p.Q940K		.											.	RGAG1-132	0			c.C2818A						.						96.0	100.0	99.0					X																	109696663		2203	4300	6503	SO:0001583	missense	57529	exon3			ACTGCACAAACAA	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2818C>A	X.37:g.109696663C>A	ENSP00000419786:p.Gln940Lys	157	3		153	48	NM_020769	0	0	0	0	0	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198682	0.38806	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.46063	0.88;0.88	4.19	3.31	0.37934	.	1.218880	0.06382	N	0.715337	T	0.37812	0.1017	L	0.52126	1.63	0.09310	N	1	B	0.13594	0.008	B	0.19391	0.025	T	0.28650	-1.0037	9	.	.	.	-1.9478	6.2869	0.21039	0.2131:0.584:0.2029:0.0	.	940	Q8NET4	RGAG1_HUMAN	K	940	ENSP00000419786:Q940K;ENSP00000441452:Q940K	.	Q	+	1	0	RGAG1	109583319	0.191000	0.23288	0.172000	0.22920	0.777000	0.43975	0.676000	0.25247	1.083000	0.41159	0.556000	0.70494	CAA	.		0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
CAPN6	827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	110490730	110490730	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:110490730C>A	ENST00000324068.1	-	12	1776	c.1609G>T	c.(1609-1611)Gta>Tta	p.V537L	CAPN6_ENST00000541758.1_Missense_Mutation_p.V282L	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	537	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TATGGGTTTACAGCTGGAACA	0.403																																					p.V537L		.											.	CAPN6-195	0			c.G1609T						.						111.0	94.0	100.0					X																	110490730		2203	4300	6503	SO:0001583	missense	827	exon12			GGTTTACAGCTGG	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1609G>T	X.37:g.110490730C>A	ENSP00000317214:p.Val537Leu	139	0		149	51	NM_014289	0	0	0	0	0	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002027	0.54254	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.69175	-0.38;-0.38	4.99	4.13	0.48395	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.503594	0.17873	N	0.159115	T	0.47857	0.1468	N	0.08118	0	0.30542	N	0.766362	P	0.39216	0.664	B	0.43082	0.407	T	0.49428	-0.8941	10	0.36615	T	0.2	.	7.5078	0.27555	0.0:0.7435:0.1634:0.0931	.	537	Q9Y6Q1	CAN6_HUMAN	L	537;282	ENSP00000317214:V537L;ENSP00000441736:V282L	ENSP00000317214:V537L	V	-	1	0	CAPN6	110377386	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.037000	0.49775	1.092000	0.41356	0.517000	0.50305	GTA	.		0.403	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		
DCX	1641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	110653544	110653544	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:110653544C>T	ENST00000338081.3	-	2	497	c.326G>A	c.(325-327)aGc>aAc	p.S109N	DCX_ENST00000356915.2_Missense_Mutation_p.S28N|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.S28N|DCX_ENST00000356220.3_Missense_Mutation_p.S28N|DCX_ENST00000371993.2_Missense_Mutation_p.S28N	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	109					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTGAGTGGGGCTAGGCAACCC	0.498																																					p.S109N		.											.	DCX-554	0			c.G326A						.						181.0	152.0	162.0					X																	110653544		2203	4300	6503	SO:0001583	missense	1641	exon2			GTGGGGCTAGGCA	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.326G>A	X.37:g.110653544C>T	ENSP00000337697:p.Ser109Asn	197	0		227	72	NM_000555	0	0	0	0	0	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.126490|4.126490	0.77549|0.77549	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	.|T;T;T;T;T;T	.|0.52983	.|1.51;1.51;1.38;1.51;1.51;0.64	5.37|5.37	4.5|4.5	0.54988|0.54988	.|.	.|0.082145	.|0.85682	.|D	.|0.000000	T|T	0.52092|0.52092	0.1713|0.1713	L|L	0.29908|0.29908	0.895|0.895	0.48511|0.48511	D|D	0.99966|0.99966	.|P;D	.|0.65815	.|0.947;0.995	.|P;P	.|0.58013	.|0.677;0.831	T|T	0.56667|0.56667	-0.7941|-0.7941	5|10	.|0.72032	.|D	.|0.01	.|.	14.6584|14.6584	0.68850|0.68850	0.1461:0.8539:0.0:0.0|0.1461:0.8539:0.0:0.0	.|.	.|97;109	.|B4DM53;O43602	.|.;DCX_HUMAN	T|N	101|28;28;109;28;28;28	.|ENSP00000349385:S28N;ENSP00000361061:S28N;ENSP00000337697:S109N;ENSP00000348553:S28N;ENSP00000419861:S28N;ENSP00000418811:S28N	.|ENSP00000337697:S109N	A|S	-|-	1|2	0|0	DCX|DCX	110540200|110540200	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.995000|0.995000	0.86356|0.86356	7.651000|7.651000	0.83577|0.83577	1.227000|1.227000	0.43598|0.43598	0.513000|0.513000	0.50165|0.50165	GCC|AGC	.		0.498	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	
ALG13	79868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	110964940	110964940	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:110964940G>T	ENST00000394780.3	+	12	1447		c.e12+1		ALG13_ENST00000251943.4_Splice_Site	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						AGCAGAAAAGGTAAAGAAATA	0.348																																					.		.											.	ALG13-130	0			c.1123+1G>T						.						57.0	45.0	49.0					X																	110964940		1566	3582	5148	SO:0001630	splice_region_variant	79868	exon12			GAAAAGGTAAAGA	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1435+1G>T	X.37:g.110964940G>T		126	0		125	24	NM_001257230	0	0	0	0	0	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Splice_Site	SNP	ENST00000394780.3	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947215	0.73672	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6521	0.91433	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALG13	110851596	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.184000	0.89702	2.349000	0.79799	0.523000	0.50628	.	.		0.348	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466	Intron
TRPC5	7224	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	111025191	111025191	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:111025191C>T	ENST00000262839.2	-	8	2990	c.2072G>A	c.(2071-2073)cGg>cAg	p.R691Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	691					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCGCCTTCTCCGTCTACCGTC	0.438																																					p.R691Q		.											.	TRPC5-130	0			c.G2072A						.						113.0	108.0	109.0					X																	111025191		2203	4300	6503	SO:0001583	missense	7224	exon8			CTTCTCCGTCTAC	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2072G>A	X.37:g.111025191C>T	ENSP00000262839:p.Arg691Gln	137	2		159	49	NM_012471	0	0	0	0	0	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317557	0.40996	.	.	ENSG00000072315	ENST00000262839	D	0.81908	-1.55	5.72	3.94	0.45596	.	0.274255	0.34853	N	0.003628	T	0.68751	0.3035	L	0.39898	1.24	0.09310	N	0.999995	B;P	0.35982	0.0;0.531	B;B	0.26517	0.0;0.07	T	0.59139	-0.7510	10	0.33141	T	0.24	-10.0669	5.2517	0.15524	0.0:0.5782:0.0:0.4217	.	692;691	Q59G51;Q9UL62	.;TRPC5_HUMAN	Q	691	ENSP00000262839:R691Q	ENSP00000262839:R691Q	R	-	2	0	TRPC5	110911847	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	4.271000	0.58902	1.179000	0.42884	0.594000	0.82650	CGG	.		0.438	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471	
ZCCHC16	340595	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	111698228	111698228	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:111698228C>A	ENST00000340433.2	+	1	502	c.272C>A	c.(271-273)gCa>gAa	p.A91E		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	91							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTAATCCTGCAAATGATGCC	0.448																																					p.A91E		.											.	ZCCHC16-91	0			c.C272A						.						116.0	96.0	103.0					X																	111698228		2203	4300	6503	SO:0001583	missense	340595	exon3			ATCCTGCAAATGA	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.272C>A	X.37:g.111698228C>A	ENSP00000340590:p.Ala91Glu	139	1		153	36	NM_001004308	0	0	0	0	0	B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	2.496	-0.316235	0.05422	.	.	ENSG00000187823	ENST00000340433	T	0.50001	0.76	3.91	0.174	0.15040	.	1.325180	0.05688	N	0.591633	T	0.29389	0.0732	N	0.20986	0.625	0.09310	N	1	P	0.36535	0.557	B	0.30495	0.116	T	0.15983	-1.0418	10	0.31617	T	0.26	0.6541	6.2484	0.20832	0.0:0.5188:0.0:0.4812	.	91	Q6ZR62	ZCH16_HUMAN	E	91	ENSP00000340590:A91E	ENSP00000340590:A91E	A	+	2	0	ZCCHC16	111584884	0.001000	0.12720	0.000000	0.03702	0.127000	0.20565	-0.251000	0.08818	-0.103000	0.12175	0.529000	0.55759	GCA	.		0.448	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308	
ZCCHC16	340595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	111698591	111698591	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:111698591G>C	ENST00000340433.2	+	1	865	c.635G>C	c.(634-636)tGc>tCc	p.C212S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	212							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATCACTCAGTGCATTCAGTTG	0.483																																					p.C212S		.											.	ZCCHC16-91	0			c.G635C						.						155.0	131.0	139.0					X																	111698591		2203	4300	6503	SO:0001583	missense	340595	exon3			CTCAGTGCATTCA	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.635G>C	X.37:g.111698591G>C	ENSP00000340590:p.Cys212Ser	325	0		333	114	NM_001004308	0	0	0	0	0	B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122433	0.56613	.	.	ENSG00000187823	ENST00000340433	T	0.43688	0.94	4.12	4.12	0.48240	.	0.292459	0.24983	N	0.034052	T	0.54743	0.1877	L	0.60455	1.87	0.37416	D	0.913448	D	0.89917	1.0	D	0.87578	0.998	T	0.53613	-0.8414	10	0.17369	T	0.5	-5.4659	10.7666	0.46297	0.0:0.0:1.0:0.0	.	212	Q6ZR62	ZCH16_HUMAN	S	212	ENSP00000340590:C212S	ENSP00000340590:C212S	C	+	2	0	ZCCHC16	111585247	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	2.301000	0.43628	2.304000	0.77564	0.529000	0.55759	TGC	.		0.483	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308	
HTR2C	3358	ucsc.edu;bcgsc.ca;mdanderson.org	37	X	114058112	114058112	+	Intron	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:114058112C>T	ENST00000276198.1	+	5	1077				HTR2C_ENST00000371951.1_Intron|HTR2C_ENST00000371950.3_Intron|MIR448_ENST00000362131.1_RNA	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled						behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTCCCATCTCCCAGCCCACTT	0.498																																					.		.											.	.	0			.						.						71.0	63.0	65.0					X																	114058112		1494	3421	4915	SO:0001627	intron_variant	554212	.			CATCTCCCAGCCC		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.350-24454C>T	X.37:g.114058112C>T		75	0		73	36	.	0	0	0	0	0	B1AMW4|Q5VUF8|Q9NP28	RNA	SNP	ENST00000276198.1	37	CCDS14564.1																																																																																			.		0.498	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868	
RBMXL3	139804	ucsc.edu;bcgsc.ca	37	X	114424922	114424922	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:114424922C>A	ENST00000424776.3	+	1	960	c.918C>A	c.(916-918)agC>agA	p.S306R	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	306							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						CCCTCAAGAGCTACGGAGGCC	0.622																																					p.S306R		.											.	.	0			c.C918A						.						32.0	36.0	35.0					X																	114424922		692	1591	2283	SO:0001583	missense	139804	exon1			CAAGAGCTACGGA	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.918C>A	X.37:g.114424922C>A	ENSP00000417451:p.Ser306Arg	270	3		345	115	NM_001145346	0	0	0	0	0	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	37	CCDS55478.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271126	0.23221	.	.	ENSG00000175718	ENST00000424776	T	0.04654	3.58	0.869	-0.608	0.11611	.	.	.	.	.	T	0.04048	0.0113	L	0.38175	1.15	0.09310	N	0.999999	D	0.54964	0.969	B	0.41236	0.351	T	0.38950	-0.9637	8	0.87932	D	0	.	.	.	.	.	306	Q8N7X1	RMXL3_HUMAN	R	306	ENSP00000417451:S306R	ENSP00000417451:S306R	S	+	3	2	RBMXL3	114331178	1.000000	0.71417	0.001000	0.08648	0.002000	0.02628	0.866000	0.27954	-0.229000	0.09854	-0.422000	0.05995	AGC	.		0.622	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
RBMXL3	139804	ucsc.edu;bcgsc.ca	37	X	114425751	114425751	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:114425751A>C	ENST00000424776.3	+	1	1789	c.1747A>C	c.(1747-1749)Aac>Cac	p.N583H	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	583	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						CAGCCAGAGCAACCGCTACGG	0.672																																					p.N583H		.											.	.	0			c.A1747C						.						39.0	41.0	41.0					X																	114425751		692	1591	2283	SO:0001583	missense	139804	exon1			CAGAGCAACCGCT	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1747A>C	X.37:g.114425751A>C	ENSP00000417451:p.Asn583His	224	2		303	56	NM_001145346	0	0	0	0	0	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	37	CCDS55478.1	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.243687	0.00271	.	.	ENSG00000175718	ENST00000424776	T	0.05199	3.48	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44467	-0.9326	9	0.87932	D	0	.	1.4499	0.02372	0.336:0.0:0.3297:0.3342	.	583	Q8N7X1	RMXL3_HUMAN	H	583	ENSP00000417451:N583H	ENSP00000417451:N583H	N	+	1	0	RBMXL3	114332007	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-3.933000	0.00331	-1.525000	0.01762	-1.524000	0.00929	AAC	.		0.672	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
RBMXL3	139804	bcgsc.ca	37	X	114425772	114425772	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:114425772T>C	ENST00000424776.3	+	1	1810	c.1768T>C	c.(1768-1770)Tgc>Cgc	p.C590R	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	590	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						AGGAGGAGGCTGCTACGAGGA	0.682																																					p.C590R		.											.	.	0			c.T1768C						.						47.0	48.0	47.0					X																	114425772		692	1591	2283	SO:0001583	missense	139804	exon1			GGAGGCTGCTACG	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1768T>C	X.37:g.114425772T>C	ENSP00000417451:p.Cys590Arg	237	3		301	39	NM_001145346	0	0	0	0	0	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	37	CCDS55478.1	.	.	.	.	.	.	.	.	.	.	t	0.006	-2.072526	0.00379	.	.	ENSG00000175718	ENST00000424776	T	0.05925	3.37	0.862	-1.72	0.08107	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	0.24843	N	0.992453	B	0.02656	0.0	B	0.01281	0.0	T	0.40440	-0.9563	9	0.87932	D	0	.	4.6919	0.12785	0.0:0.2535:0.0:0.7465	.	590	Q8N7X1	RMXL3_HUMAN	R	590	ENSP00000417451:C590R	ENSP00000417451:C590R	C	+	1	0	RBMXL3	114332028	0.491000	0.26019	0.083000	0.20561	0.083000	0.17756	-0.026000	0.12392	-1.525000	0.01762	-1.524000	0.00929	TGC	.		0.682	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
RBMXL3	139804	bcgsc.ca	37	X	114425840	114425840	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:114425840C>T	ENST00000424776.3	+	1	1878	c.1836C>T	c.(1834-1836)agC>agT	p.S612S	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	612	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						ATGCCTACAGCGGGGGCCACG	0.672																																					p.S612S		.											.	.	0			c.C1836T						.						39.0	42.0	41.0					X																	114425840		692	1591	2283	SO:0001819	synonymous_variant	139804	exon1			CTACAGCGGGGGC	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1836C>T	X.37:g.114425840C>T		263	1		358	19	NM_001145346	0	0	0	0	0	B4DXC0	Silent	SNP	ENST00000424776.3	37	CCDS55478.1																																																																																			.		0.672	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
LUZP4	51213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	114540824	114540824	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:114540824G>C	ENST00000371920.3	+	4	404	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	LUZP4_ENST00000451986.2_Missense_Mutation_p.E51Q	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	133						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AGGCCAGTCAGAGGGGAACCA	0.433																																					p.E133Q		.											.	LUZP4-132	0			c.G397C						.						75.0	72.0	73.0					X																	114540824		2203	4300	6503	SO:0001583	missense	51213	exon4			CAGTCAGAGGGGA	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.397G>C	X.37:g.114540824G>C	ENSP00000360988:p.Glu133Gln	258	0		302	106	NM_016383	0	0	0	0	0	B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021272	0.35701	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	D;T	0.81996	-1.56;-1.17	2.99	-0.128	0.13506	.	0.523251	0.14244	N	0.331866	T	0.69628	0.3132	L	0.29908	0.895	0.09310	N	1	P;P	0.41041	0.582;0.736	B;B	0.38803	0.282;0.207	T	0.59408	-0.7460	10	0.44086	T	0.13	.	6.5375	0.22363	0.4425:0.0:0.5575:0.0	.	51;133	B3KSD6;Q9P127	.;LUZP4_HUMAN	Q	51;133	ENSP00000411212:E51Q;ENSP00000360988:E133Q	ENSP00000360988:E133Q	E	+	1	0	LUZP4	114447080	0.000000	0.05858	0.001000	0.08648	0.316000	0.28119	0.266000	0.18534	-0.142000	0.11354	0.462000	0.41574	GAG	.		0.433	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383	
SLC6A14	11254	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	115568956	115568956	+	Splice_Site	SNP	A	A	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:115568956A>C	ENST00000371900.4	+	2	136		c.e2-1			NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTCTTCCCCAGAAAGTGTCG	0.388																																					.		.											.	SLC6A14-133	0			c.49-2A>C						.						168.0	181.0	177.0					X																	115568956		2203	4300	6503	SO:0001630	splice_region_variant	11254	exon2			TTCCCCAGAAAGT	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.49-1A>C	X.37:g.115568956A>C		67	0		61	13	NM_007231	0	0	0	0	0	Q5H942	Splice_Site	SNP	ENST00000371900.4	37	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.102879	0.56183	.	.	ENSG00000087916	ENST00000371900	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1113	0.42563	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A14	115482984	0.999000	0.42202	0.980000	0.43619	0.921000	0.55340	4.674000	0.61612	1.912000	0.55364	0.441000	0.28932	.	.		0.388	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		Intron
CT83	203413	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	115593996	115593996	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:115593996C>T	ENST00000371894.4	-	1	168	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		8						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						ATGCTGCTCGCTAGGAGTAAA	0.498																																					p.A8T		.											.	CXorf61-130	0			c.G22A						.						202.0	161.0	175.0					X																	115593996		2203	4300	6503	SO:0001583	missense	203413	exon1			TGCTCGCTAGGAG																												ENST00000371894.4:c.22G>A	X.37:g.115593996C>T	ENSP00000360961:p.Ala8Thr	367	2		405	155	NM_001017978	0	0	0	0	0		Missense_Mutation	SNP	ENST00000371894.4	37	CCDS35372.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142715	0.37825	.	.	ENSG00000204019	ENST00000371894	.	.	.	3.46	-6.05	0.02172	.	1.760340	0.03861	N	0.273891	T	0.20047	0.0482	N	0.24115	0.695	0.09310	N	1	B	0.27732	0.187	B	0.24701	0.055	T	0.13176	-1.0519	9	0.62326	D	0.03	2.8824	2.2369	0.04011	0.1258:0.1476:0.4005:0.3261	.	8	Q5H943	KKLC1_HUMAN	T	8	.	ENSP00000360961:A8T	A	-	1	0	CXorf61	115508024	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.303000	0.01135	-1.762000	0.01308	-0.348000	0.07805	GCG	.		0.498	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1		
KLHL13	90293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	117043644	117043644	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:117043644T>A	ENST00000262820.3	-	5	1895	c.986A>T	c.(985-987)cAg>cTg	p.Q329L	KLHL13_ENST00000539496.1_Missense_Mutation_p.Q332L|KLHL13_ENST00000469946.1_Missense_Mutation_p.Q278L|KLHL13_ENST00000545703.1_Missense_Mutation_p.Q287L|KLHL13_ENST00000371876.1_Missense_Mutation_p.Q278L|KLHL13_ENST00000371878.1_Missense_Mutation_p.Q278L|KLHL13_ENST00000541812.1_Missense_Mutation_p.Q313L|KLHL13_ENST00000540167.1_Missense_Mutation_p.Q313L|KLHL13_ENST00000371882.1_Missense_Mutation_p.Q278L	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	329					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCTGTCTGACTGCATAACTGG	0.458																																					p.Q332L		.											.	KLHL13-556	0			c.A995T						.						126.0	103.0	111.0					X																	117043644		2203	4300	6503	SO:0001583	missense	90293	exon6			TCTGACTGCATAA	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.986A>T	X.37:g.117043644T>A	ENSP00000262820:p.Gln329Leu	203	0		190	71	NM_001168299	0	0	0	0	0	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934216	0.73442	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.73047	-0.69;-0.69;-0.69;-0.69;-0.61;-0.61;-0.71;-0.71;-0.68;-0.69	4.88	4.88	0.63580	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.89715	3.055	0.80722	D	1	P;D;P;P	0.76494	0.86;0.999;0.875;0.781	P;D;P;B	0.69307	0.535;0.963;0.666;0.334	D	0.88382	0.3002	10	0.62326	D	0.03	.	13.6157	0.62105	0.0:0.0:0.0:1.0	.	313;332;323;329	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	L	278;278;278;278;313;313;332;329;287;278	ENSP00000360949:Q278L;ENSP00000360943:Q278L;ENSP00000360945:Q278L;ENSP00000412640:Q278L;ENSP00000444450:Q313L;ENSP00000441029:Q313L;ENSP00000443191:Q332L;ENSP00000262820:Q329L;ENSP00000440707:Q287L;ENSP00000419803:Q278L	ENSP00000262820:Q329L	Q	-	2	0	KLHL13	116927672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.868000	0.87116	1.787000	0.52448	0.481000	0.45027	CAG	.		0.458	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
KLHL13	90293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	117043657	117043657	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:117043657G>T	ENST00000262820.3	-	5	1882	c.973C>A	c.(973-975)Cag>Aag	p.Q325K	KLHL13_ENST00000539496.1_Missense_Mutation_p.Q328K|KLHL13_ENST00000469946.1_Missense_Mutation_p.Q274K|KLHL13_ENST00000545703.1_Missense_Mutation_p.Q283K|KLHL13_ENST00000371876.1_Missense_Mutation_p.Q274K|KLHL13_ENST00000371878.1_Missense_Mutation_p.Q274K|KLHL13_ENST00000541812.1_Missense_Mutation_p.Q309K|KLHL13_ENST00000540167.1_Missense_Mutation_p.Q309K|KLHL13_ENST00000371882.1_Missense_Mutation_p.Q274K	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	325					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAACTGGCTGCATATATGGC	0.453																																					p.Q328K		.											.	KLHL13-556	0			c.C982A						.						125.0	103.0	111.0					X																	117043657		2203	4300	6503	SO:0001583	missense	90293	exon6			CTGGCTGCATATA	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.973C>A	X.37:g.117043657G>T	ENSP00000262820:p.Gln325Lys	201	0		195	78	NM_001168299	0	0	0	0	0	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103483	0.76983	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71934	-0.59;-0.59;-0.59;-0.59;-0.51;-0.51;-0.61;-0.61;-0.58;-0.59	4.88	4.88	0.63580	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.86310	0.5902	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.998;0.984	D;D;D;P	0.91635	0.965;0.999;0.988;0.895	D	0.87596	0.2494	10	0.42905	T	0.14	.	17.1659	0.86816	0.0:0.0:1.0:0.0	.	309;328;319;325	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	K	274;274;274;274;309;309;328;325;283;274	ENSP00000360949:Q274K;ENSP00000360943:Q274K;ENSP00000360945:Q274K;ENSP00000412640:Q274K;ENSP00000444450:Q309K;ENSP00000441029:Q309K;ENSP00000443191:Q328K;ENSP00000262820:Q325K;ENSP00000440707:Q283K;ENSP00000419803:Q274K	ENSP00000262820:Q325K	Q	-	1	0	KLHL13	116927685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.233000	0.73108	0.594000	0.82650	CAG	.		0.453	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
DOCK11	139818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	117700598	117700598	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:117700598G>T	ENST00000276202.7	+	9	996	c.933G>T	c.(931-933)atG>atT	p.M311I	Y_RNA_ENST00000384135.1_RNA|DOCK11_ENST00000276204.6_Missense_Mutation_p.M311I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	311					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAAGGAGCATGCATCCGGAAC	0.393																																					p.M311I		.											.	DOCK11-93	0			c.G933T						.						155.0	121.0	132.0					X																	117700598		2203	4300	6503	SO:0001583	missense	139818	exon9			GAGCATGCATCCG	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.933G>T	X.37:g.117700598G>T	ENSP00000276202:p.Met311Ile	292	0		356	129	NM_144658	0	0	0	0	0	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	6.586	0.476406	0.12521	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.17854	2.25;2.25	5.42	5.42	0.78866	.	0.158747	0.56097	D	0.000032	T	0.18841	0.0452	L	0.52573	1.65	0.43745	D	0.996244	B;B	0.29835	0.258;0.111	B;B	0.24541	0.054;0.026	T	0.01899	-1.1251	10	0.34782	T	0.22	-22.7877	17.8827	0.88845	0.0:0.0:1.0:0.0	.	311;311	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	311	ENSP00000276204:M311I;ENSP00000276202:M311I	ENSP00000276202:M311I	M	+	3	0	DOCK11	117584626	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	4.221000	0.58574	2.256000	0.74724	0.600000	0.82982	ATG	.		0.393	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
ZCCHC12	170261	ucsc.edu;bcgsc.ca	37	X	117959692	117959692	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:117959692C>A	ENST00000310164.2	+	4	992	c.485C>A	c.(484-486)gCa>gAa	p.A162E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	162					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						gctattcaggcaggcattata	0.488																																					p.A162E		.											.	ZCCHC12-131	0			c.C485A						.						102.0	102.0	102.0					X																	117959692		2203	4300	6503	SO:0001583	missense	170261	exon4			TTCAGGCAGGCAT	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.485C>A	X.37:g.117959692C>A	ENSP00000308921:p.Ala162Glu	216	2		228	86	NM_173798	0	0	0	0	0	B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787796	0.49997	.	.	ENSG00000174460	ENST00000310164	T	0.08984	3.03	3.09	3.09	0.35607	.	0.218068	0.23439	N	0.048164	T	0.25269	0.0614	M	0.79123	2.44	0.31931	N	0.612144	D	0.89917	1.0	D	0.87578	0.998	T	0.12451	-1.0547	10	0.54805	T	0.06	-4.4267	8.7855	0.34818	0.0:1.0:0.0:0.0	.	162	Q6PEW1	ZCH12_HUMAN	E	162	ENSP00000308921:A162E	ENSP00000308921:A162E	A	+	2	0	ZCCHC12	117843720	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.978000	0.49305	1.801000	0.52704	0.594000	0.82650	GCA	.		0.488	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798	
KIAA1210	57481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	118215375	118215375	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118215375C>G	ENST00000402510.2	-	14	5046	c.5047G>C	c.(5047-5049)Gtt>Ctt	p.V1683L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1683										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATTGGCTCAACTGGGTTCTGG	0.483																																					p.V1683L		.											.	KIAA1210-67	0			c.G5047C						.						159.0	147.0	151.0					X																	118215375		1901	4102	6003	SO:0001583	missense	57481	exon14			GCTCAACTGGGTT	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.5047G>C	X.37:g.118215375C>G	ENSP00000384670:p.Val1683Leu	148	0		185	64	NM_020721	0	0	0	0	0	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.16|12.16	1.853711|1.853711	0.32791|0.32791	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10382	.|2.88	4.97|4.97	2.2|2.2	0.27929|0.27929	.|.	.|.	.|.	.|.	.|.	T|T	0.08268|0.08268	0.0206|0.0206	L|L	0.45228|0.45228	1.405|1.405	0.09310|0.09310	N|N	1|1	.|P	.|0.36535	.|0.557	.|B	.|0.33042	.|0.157	T|T	0.29150|0.29150	-1.0021|-1.0021	5|9	.|0.44086	.|T	.|0.13	.|.	3.9611|3.9611	0.09410|0.09410	0.0:0.5862:0.1952:0.2186|0.0:0.5862:0.1952:0.2186	.|.	.|1683	.|Q9ULL0	.|K1210_HUMAN	T|L	1089|1683	.|ENSP00000384670:V1683L	.|ENSP00000384670:V1683L	S|V	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118099403|118099403	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.228000|0.228000	0.17814|0.17814	0.562000|0.562000	0.29204|0.29204	0.594000|0.594000	0.82650|0.82650	AGT|GTT	.		0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
KIAA1210	57481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	118221793	118221793	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118221793G>T	ENST00000402510.2	-	11	3399	c.3400C>A	c.(3400-3402)Caa>Aaa	p.Q1134K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1134										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAGGACAGTTGCTGGACTTTA	0.473																																					p.Q1134K		.											.	KIAA1210-67	0			c.C3400A						.						93.0	87.0	89.0					X																	118221793		1873	4093	5966	SO:0001583	missense	57481	exon11			ACAGTTGCTGGAC	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3400C>A	X.37:g.118221793G>T	ENSP00000384670:p.Gln1134Lys	146	0		142	34	NM_020721	0	0	0	0	0	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.934|5.934	0.356319|0.356319	0.11239|0.11239	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.08008	.|3.14	4.34|4.34	-1.27|-1.27	0.09347|0.09347	.|.	.|.	.|.	.|.	.|.	T|T	0.04998|0.04998	0.0134|0.0134	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.24576	.|0.106	.|B	.|0.27887	.|0.084	T|T	0.45145|0.45145	-0.9281|-0.9281	5|9	.|0.02654	.|T	.|1	.|.	7.8867|7.8867	0.29655|0.29655	0.0:0.1237:0.2769:0.5994|0.0:0.1237:0.2769:0.5994	.|.	.|1134	.|Q9ULL0	.|K1210_HUMAN	E|K	540|1134	.|ENSP00000384670:Q1134K	.|ENSP00000384670:Q1134K	A|Q	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118105821|118105821	0.721000|0.721000	0.28007|0.28007	0.001000|0.001000	0.08648|0.08648	0.145000|0.145000	0.21501|0.21501	0.400000|0.400000	0.20932|0.20932	-0.392000|-0.392000	0.07751|0.07751	0.600000|0.600000	0.82982|0.82982	GCA|CAA	.		0.473	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
KIAA1210	57481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	118222705	118222705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118222705C>A	ENST00000402510.2	-	11	2487	c.2488G>T	c.(2488-2490)Gag>Tag	p.E830*		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	830										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCCAGCTCCTCCTCAGAGCTG	0.463																																					p.E830X		.											.	KIAA1210-67	0			c.G2488T						.						39.0	37.0	38.0					X																	118222705		1865	4087	5952	SO:0001587	stop_gained	57481	exon11			GCTCCTCCTCAGA	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2488G>T	X.37:g.118222705C>A	ENSP00000384670:p.Glu830*	33	0		19	6	NM_020721	0	0	0	0	0	B7ZCI8|Q5JPN4	Nonsense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.762191|4.762191	0.89932|0.89932	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	.|.	.|.	.|.	4.46|4.46	-0.695|-0.695	0.11291|0.11291	.|.	.|.	.|.	.|.	.|.	.|T	.|0.28995	.|0.0720	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34428	.|-0.9829	.|3	0.20046|.	T|.	0.44|.	.|.	4.0473|4.0473	0.09778|0.09778	0.0:0.3328:0.3335:0.3337|0.0:0.3328:0.3335:0.3337	.|.	.|.	.|.	.|.	X|V	830|236	.|.	ENSP00000384670:E830X|.	E|G	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118106733|118106733	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.186000|-0.186000	0.09670|0.09670	-0.293000|-0.293000	0.08986|0.08986	-0.208000|-0.208000	0.12717|0.12717	GAG|GGA	.		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
PGRMC1	10857	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	118370647	118370647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118370647C>A	ENST00000217971.7	+	1	432	c.321C>A	c.(319-321)taC>taA	p.Y107*	PGRMC1_ENST00000535419.1_Nonsense_Mutation_p.Y107*	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	107	Cytochrome b5 heme-binding.				axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	GCAAATTCTACGGGCCCGGTA	0.716																																					p.Y107X		.											.	PGRMC1-130	0			c.C321A						.						8.0	8.0	8.0					X																	118370647		2151	4217	6368	SO:0001587	stop_gained	10857	exon1			ATTCTACGGGCCC		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.321C>A	X.37:g.118370647C>A	ENSP00000217971:p.Tyr107*	121	0		245	79	NM_006667	0	0	0	0	0	B7Z1L3|Q9UGJ9	Nonsense_Mutation	SNP	ENST00000217971.7	37	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	35	5.521847	0.96416	.	.	ENSG00000101856	ENST00000217971;ENST00000535419	.	.	.	5.05	1.07	0.20283	.	0.128732	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8396	7.9619	0.30076	0.0:0.5013:0.0:0.4987	.	.	.	.	X	107	.	ENSP00000217971:Y107X	Y	+	3	2	PGRMC1	118254675	1.000000	0.71417	0.987000	0.45799	0.787000	0.44495	1.021000	0.30040	-0.242000	0.09667	-0.295000	0.09555	TAC	.		0.716	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667	
PGRMC1	10857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	118374361	118374361	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118374361G>C	ENST00000217971.7	+	2	529	c.418G>C	c.(418-420)Gat>Cat	p.D140H	PGRMC1_ENST00000535419.1_Intron	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	140	Cytochrome b5 heme-binding.				axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	GGATGAGTACGATGACCTTTC	0.483																																					p.D140H		.											.	PGRMC1-130	0			c.G418C						.						139.0	125.0	130.0					X																	118374361		2203	4300	6503	SO:0001583	missense	10857	exon2			GAGTACGATGACC		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.418G>C	X.37:g.118374361G>C	ENSP00000217971:p.Asp140His	139	0		151	43	NM_006667	0	0	0	0	0	B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	ENST00000217971.7	37	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.240589	0.79912	.	.	ENSG00000101856	ENST00000217971	T	0.78126	-1.15	4.98	4.98	0.66077	Cytochrome b5 (3);	0.000000	0.85682	D	0.000000	D	0.89248	0.6661	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90766	0.4668	10	0.54805	T	0.06	0.134	16.3327	0.83049	0.0:0.0:1.0:0.0	.	140	O00264	PGRC1_HUMAN	H	140	ENSP00000217971:D140H	ENSP00000217971:D140H	D	+	1	0	PGRMC1	118258389	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	9.468000	0.97676	2.054000	0.61138	0.509000	0.49947	GAT	.		0.483	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667	
NKRF	55922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	118723944	118723944	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118723944C>G	ENST00000371527.1	-	2	2096	c.1444G>C	c.(1444-1446)Gtg>Ctg	p.V482L	NKRF_ENST00000304449.5_Missense_Mutation_p.V482L|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.V497L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	482					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TCTAGAATCACTTTGCATTTC	0.453																																					p.V497L		.											.	NKRF-131	0			c.G1489C						.						101.0	101.0	101.0					X																	118723944		2203	4300	6503	SO:0001583	missense	55922	exon4			GAATCACTTTGCA	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1444G>C	X.37:g.118723944C>G	ENSP00000360582:p.Val482Leu	55	0		54	22	NM_001173487	0	0	0	0	0	G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154378	0.57259	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	D;D;D	0.82803	-1.65;-1.65;-1.65	5.6	5.6	0.85130	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	M	0.75615	2.305	0.80722	D	1	B	0.28605	0.217	B	0.37198	0.243	D	0.84890	0.0836	10	0.54805	T	0.06	-12.7448	17.4857	0.87687	0.0:1.0:0.0:0.0	.	482	O15226	NKRF_HUMAN	L	482;482;497	ENSP00000360582:V482L;ENSP00000304803:V482L;ENSP00000442308:V497L	ENSP00000304803:V482L	V	-	1	0	NKRF	118607972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.451000	0.80668	2.343000	0.79666	0.600000	0.82982	GTG	.		0.453	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544	
SEPT6	23157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	118763333	118763333	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118763333C>T	ENST00000343984.5	-	9	1492	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	SEPT6_ENST00000354416.3_Missense_Mutation_p.G410S|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000360156.7_Missense_Mutation_p.G410S|SEPT6_ENST00000394617.2_Missense_Mutation_p.G440S|SEPT6_ENST00000489216.1_Missense_Mutation_p.G410S|SEPT6_ENST00000394610.1_Missense_Mutation_p.G410S|SEPT6_ENST00000394616.4_Missense_Mutation_p.G352S|SEPT6_ENST00000354228.4_Missense_Mutation_p.G410S	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	410					cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GCCTGGGAGCCCTGGGACTGG	0.517			T	MLL	AML																																p.G410S		.		Dom	yes		X	Xq24	23157	septin 6		L	.	SEPT6-969	0			c.G1228A						.						123.0	122.0	122.0					X																	118763333		2203	4300	6503	SO:0001583	missense	23157	exon9			GGGAGCCCTGGGA	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.1228G>A	X.37:g.118763333C>T	ENSP00000341524:p.Gly410Ser	75	0		106	17	NM_145802	0	0	0	0	0	Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267545	0.23136	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	T;T;T;T;T;T;T;T	0.48836	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.8	5.32	5.32	0.75619	.	0.274639	0.40222	N	0.001152	T	0.24586	0.0596	N	0.03115	-0.41	0.33433	D	0.581414	B;B;B;B	0.32040	0.353;0.002;0.111;0.0	B;B;B;B	0.32211	0.142;0.005;0.041;0.001	T	0.23833	-1.0177	10	0.06891	T	0.86	.	16.9197	0.86161	0.0:1.0:0.0:0.0	.	440;352;410;410	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	S	410;410;410;410;410;410;352;440	ENSP00000353278:G410S;ENSP00000346169:G410S;ENSP00000418715:G410S;ENSP00000346397:G410S;ENSP00000378108:G410S;ENSP00000341524:G410S;ENSP00000378114:G352S;ENSP00000378115:G440S	ENSP00000341524:G410S	G	-	1	0	SEPT6	118647361	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	4.466000	0.60148	2.201000	0.70794	0.600000	0.82982	GGC	.		0.517	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802	
AKAP14	158798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	119048832	119048832	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:119048832C>A	ENST00000371431.3	+	5	706	c.432C>A	c.(430-432)acC>acA	p.T144T	AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000371425.4_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	144					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						TCTCCAAAACCAAACCACCGG	0.438																																					p.T144T		.											.	AKAP14-226	0			c.C432A						.						179.0	141.0	154.0					X																	119048832		2203	4300	6503	SO:0001819	synonymous_variant	158798	exon5			CAAAACCAAACCA	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.432C>A	X.37:g.119048832C>A		103	0		134	36	NM_178813	0	0	0	0	0	A6NNZ0|Q86UN4|Q86UN5	Silent	SNP	ENST00000371431.3	37	CCDS14591.1																																																																																			.		0.438	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813	
CT47B1	643311	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	120009189	120009189	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:120009189G>C	ENST00000371311.3	-	1	590	c.336C>G	c.(334-336)acC>acG	p.T112T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	112										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGTACCGACGGGTGGCCACCG	0.647																																					p.T112T		.											.	.	0			c.C336G						.						47.0	63.0	58.0					X																	120009189		692	1590	2282	SO:0001819	synonymous_variant	643311	exon1			CCGACGGGTGGCC		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.336C>G	X.37:g.120009189G>C		416	1		638	230	NM_001145718	0	0	0	0	0	A6NM97	Silent	SNP	ENST00000371311.3	37	CCDS48161.1																																																																																			.		0.647	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718	
GRIA3	2892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	122532571	122532571	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:122532571C>A	ENST00000371251.1	+	7	1049	c.997C>A	c.(997-999)Cgg>Agg	p.R333R	GRIA3_ENST00000264357.5_Silent_p.R333R|GRIA3_ENST00000371256.5_Silent_p.R333R|GRIA3_ENST00000541091.1_Silent_p.R317R|GRIA3_ENST00000542149.1_Silent_p.R333R			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	333					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AGATGTGTCCCGGAGAGGAAG	0.488																																					p.R333R		.											.	GRIA3-134	0			c.C997A						.						111.0	86.0	94.0					X																	122532571		2203	4300	6503	SO:0001819	synonymous_variant	2892	exon7			GTGTCCCGGAGAG	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.997C>A	X.37:g.122532571C>A		202	0		218	64	NM_000828	0	0	0	0	0	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	CCDS14604.1																																																																																			.		0.488	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	
THOC2	57187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	122747368	122747368	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:122747368G>A	ENST00000245838.8	-	36	4590	c.4559C>T	c.(4558-4560)tCt>tTt	p.S1520F	THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000355725.4_Missense_Mutation_p.S1520F|THOC2_ENST00000491737.1_Missense_Mutation_p.S1405F	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1520	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGGATAAGGAGATTCACAAGG	0.313																																					p.S1520F		.											.	THOC2-133	0			c.C4559T						.						103.0	88.0	93.0					X																	122747368		1801	4051	5852	SO:0001583	missense	57187	exon36			TAAGGAGATTCAC	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4559C>T	X.37:g.122747368G>A	ENSP00000245838:p.Ser1520Phe	20	0		27	15	NM_001081550	0	0	0	0	0	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.215940|3.215940	0.58452|0.58452	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000448128;ENST00000441692|ENST00000245838;ENST00000455053;ENST00000355725;ENST00000416618;ENST00000491737	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.72407|0.72407	0.3456|0.3456	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.75484	.|0.986	T|T	0.74463|0.74463	-0.3657|-0.3657	5|9	.|0.62326	.|D	.|0.03	-10.1665|-10.1665	18.891|18.891	0.92403|0.92403	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1520	.|Q8NI27	.|THOC2_HUMAN	F|F	116;315|1520;13;1520;109;1405	.|.	.|ENSP00000245838:S1520F	L|S	-|-	1|2	0|0	THOC2|THOC2	122575049|122575049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.011000|8.011000	0.88624|0.88624	2.409000|2.409000	0.81822|0.81822	0.544000|0.544000	0.68410|0.68410	CTC|TCT	.		0.313	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
THOC2	57187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	122755031	122755031	+	Nonsense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:122755031G>C	ENST00000245838.8	-	31	4224	c.4193C>G	c.(4192-4194)tCa>tGa	p.S1398*	THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000355725.4_Nonsense_Mutation_p.S1398*|THOC2_ENST00000491737.1_Nonsense_Mutation_p.S1283*	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1398	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGGAATATCTGATCTGGGAAC	0.358																																					p.S1398X		.											.	THOC2-133	0			c.C4193G						.						110.0	103.0	105.0					X																	122755031		1828	4068	5896	SO:0001587	stop_gained	57187	exon31			ATATCTGATCTGG	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4193C>G	X.37:g.122755031G>C	ENSP00000245838:p.Ser1398*	66	0		69	16	NM_001081550	0	0	0	0	0	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Nonsense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.025796|10.025796	0.99320|0.99320	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000441692|ENST00000245838;ENST00000355725;ENST00000491737	.|.	.|.	.|.	5.47|5.47	4.6|4.6	0.57074|0.57074	.|.	.|0.260506	.|0.27725	.|N	.|0.018115	T|.	0.63885|.	0.2549|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.70299|.	-0.4910|.	3|.	.|.	.|.	.|.	-0.3958|-0.3958	13.4178|13.4178	0.60979|0.60979	0.0774:0.0:0.9226:0.0|0.0774:0.0:0.9226:0.0	.|.	.|.	.|.	.|.	E|X	166|1398;1398;1283	.|.	.|.	Q|S	-|-	1|2	0|0	THOC2|THOC2	122582712|122582712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.501000|7.501000	0.81600|0.81600	1.090000|1.090000	0.41315|0.41315	0.600000|0.600000	0.82982|0.82982	CAG|TCA	.		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
TENM1	10178	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	123657285	123657285	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:123657285C>A	ENST00000371130.3	-	17	3025	c.2962G>T	c.(2962-2964)Gtg>Ttg	p.V988L	TENM1_ENST00000422452.2_Missense_Mutation_p.V988L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	988					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GAAGGAAGCACAATAGGGTTT	0.458																																					p.V988L		.											.	.	0			c.G2962T						.						167.0	148.0	155.0					X																	123657285		2203	4300	6503	SO:0001583	missense	10178	exon17			GAAGCACAATAGG	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2962G>T	X.37:g.123657285C>A	ENSP00000360171:p.Val988Leu	189	1		192	70	NM_001163278	0	0	0	0	0	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155320	0.94686	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86432	-2.12;-2.09	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.91331	0.7266	L	0.50333	1.59	0.80722	D	1	D;D;P	0.76494	0.994;0.999;0.714	D;D;B	0.76071	0.97;0.987;0.289	D	0.88768	0.3262	10	0.22706	T	0.39	.	18.79	0.91969	0.0:1.0:0.0:0.0	.	987;988;988	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	988	ENSP00000360171:V988L;ENSP00000403954:V988L	ENSP00000360171:V988L	V	-	1	0	ODZ1	123484966	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	5.850000	0.69473	2.384000	0.81235	0.600000	0.82982	GTG	.		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TENM1	10178	ucsc.edu;bcgsc.ca	37	X	123663787	123663787	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:123663787G>T	ENST00000371130.3	-	16	2761	c.2698C>A	c.(2698-2700)Cct>Act	p.P900T	TENM1_ENST00000422452.2_Missense_Mutation_p.P900T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	900					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCCACTAGAGGAGTTCCATCT	0.463																																					p.P900T		.											.	.	0			c.C2698A						.						128.0	98.0	108.0					X																	123663787		2203	4300	6503	SO:0001583	missense	10178	exon16			CTAGAGGAGTTCC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2698C>A	X.37:g.123663787G>T	ENSP00000360171:p.Pro900Thr	224	2		319	108	NM_001163278	0	0	0	0	0	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832250	0.91036	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.31510	1.49;1.49	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.994;0.982	T	0.65459	-0.6163	10	0.62326	D	0.03	.	19.2668	0.93990	0.0:0.0:1.0:0.0	.	899;900;900	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	900	ENSP00000360171:P900T;ENSP00000403954:P900T	ENSP00000360171:P900T	P	-	1	0	ODZ1	123491468	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.734000	0.74801	2.502000	0.84385	0.594000	0.82650	CCT	.		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TENM1	10178	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	123680874	123680874	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:123680874C>A	ENST00000371130.3	-	15	2564	c.2501G>T	c.(2500-2502)tGc>tTc	p.C834F	TENM1_ENST00000422452.2_Missense_Mutation_p.C834F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	834					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGAGCCCTGGCAGAGAGGACT	0.398																																					p.C834F		.											.	.	0			c.G2501T						.						121.0	105.0	110.0					X																	123680874		2203	4300	6503	SO:0001583	missense	10178	exon15			CCCTGGCAGAGAG	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2501G>T	X.37:g.123680874C>A	ENSP00000360171:p.Cys834Phe	216	1		206	76	NM_001163278	0	0	0	0	0	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038622	0.75617	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.16457	2.34;2.34	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.991;0.997;0.999	T	0.58070	-0.7701	10	0.87932	D	0	.	18.0242	0.89263	0.0:1.0:0.0:0.0	.	833;834;834	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	F	834	ENSP00000360171:C834F;ENSP00000403954:C834F	ENSP00000360171:C834F	C	-	2	0	ODZ1	123508555	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	5.560000	0.67332	2.448000	0.82819	0.594000	0.82650	TGC	.		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TENM1	10178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	123870853	123870853	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:123870853G>A	ENST00000371130.3	-	4	793	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	TENM1_ENST00000422452.2_Silent_p.L244L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	244	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTGTTATGCAGATGGACTGAA	0.532																																					p.L244L		.											.	.	0			c.C730T						.						179.0	162.0	167.0					X																	123870853		2203	4300	6503	SO:0001819	synonymous_variant	10178	exon4			TATGCAGATGGAC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.730C>T	X.37:g.123870853G>A		91	0		97	31	NM_001163278	0	0	0	0	0	B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																			.		0.532	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
DCAF12L2	340578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	125299535	125299535	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:125299535C>A	ENST00000360028.2	-	1	399	c.373G>T	c.(373-375)Gtg>Ttg	p.V125L	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.V125L			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	125								p.V125L(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGACTGCACGTCCACCACA	0.642																																					p.V125L		.											.	DCAF12L2-113	2	Substitution - Missense(2)	lung(2)	c.G373T						.						89.0	79.0	82.0					X																	125299535		2203	4300	6503	SO:0001583	missense	340578	exon1			ACTGCACGTCCAC	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.373G>T	X.37:g.125299535C>A	ENSP00000353128:p.Val125Leu	319	0		452	154	NM_001013628	0	0	0	0	0	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.589802	0.28357	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.55930	0.49;0.49	3.8	2.93	0.34026	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.63307	0.2500	M	0.63428	1.95	0.34822	D	0.738826	D	0.69078	0.997	D	0.76575	0.988	T	0.67677	-0.5609	9	0.38643	T	0.18	.	6.224	0.20698	0.0:0.8606:0.0:0.1394	.	125	Q5VW00	DC122_HUMAN	L	125	ENSP00000441489:V125L;ENSP00000353128:V125L	ENSP00000353128:V125L	V	-	1	0	DCAF12L2	125127216	1.000000	0.71417	0.034000	0.17996	0.011000	0.07611	4.466000	0.60148	0.952000	0.37798	0.540000	0.68198	GTG	.		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
DCAF12L1	139170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	125686226	125686226	+	Silent	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:125686226C>G	ENST00000371126.1	-	1	608	c.366G>C	c.(364-366)gtG>gtC	p.V122V		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	122										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						CCACGTCCACCACGAAAAGCG	0.632																																					p.V122V		.											.	DCAF12L1-132	0			c.G366C						.						122.0	92.0	102.0					X																	125686226		2203	4300	6503	SO:0001819	synonymous_variant	139170	exon1			GTCCACCACGAAA	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.366G>C	X.37:g.125686226C>G		431	1		629	200	NM_178470	0	0	0	0	0	Q8IYK3	Silent	SNP	ENST00000371126.1	37	CCDS14610.1																																																																																			.		0.632	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
PRR32	100130613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	125954967	125954967	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:125954967G>T	ENST00000371125.3	+	2	426	c.346G>T	c.(346-348)Gca>Tca	p.A116S		NM_001122716.1	NP_001116188.1	B1ATL7	PRR32_HUMAN		116																	TGATGCACTGGCAGGCTGGAG	0.547																																					p.A116S		.											.	.	0			c.G346T						.						28.0	25.0	26.0					X																	125954967		692	1591	2283	SO:0001583	missense	100130613	exon2			GCACTGGCAGGCT																												ENST00000371125.3:c.346G>T	X.37:g.125954967G>T	ENSP00000360166:p.Ala116Ser	247	0		279	103	NM_001122716	0	0	0	0	0		Missense_Mutation	SNP	ENST00000371125.3	37	CCDS48163.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469185	0.26423	.	.	ENSG00000183631	ENST00000371125	T	0.36520	1.25	4.01	2.18	0.27775	.	0.251938	0.20912	N	0.083444	T	0.31765	0.0807	L	0.29908	0.895	0.09310	N	1	P	0.49961	0.93	P	0.52823	0.71	T	0.06679	-1.0813	10	0.38643	T	0.18	-5.4239	4.8018	0.13301	0.1234:0.2155:0.6611:0.0	.	116	B1ATL7	CX064_HUMAN	S	116	ENSP00000360166:A116S	ENSP00000360166:A116S	A	+	1	0	CXorf64	125782648	0.783000	0.28701	0.078000	0.20375	0.013000	0.08279	1.137000	0.31479	0.458000	0.26988	0.594000	0.82650	GCA	.		0.547	CXorf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058188.1		
ACTRT1	139741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	127185766	127185766	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:127185766A>T	ENST00000371124.3	-	1	616	c.420T>A	c.(418-420)caT>caA	p.H140Q		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	140						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTGCCACCGCATGATTAGACA	0.517																																					p.H140Q		.											.	ACTRT1-133	0			c.T420A						.						197.0	181.0	186.0					X																	127185766		2203	4300	6503	SO:0001583	missense	139741	exon1			CACCGCATGATTA	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.420T>A	X.37:g.127185766A>T	ENSP00000360165:p.His140Gln	208	0		219	68	NM_138289	0	0	0	0	0	Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	A	0.160	-1.082010	0.01888	.	.	ENSG00000123165	ENST00000371124	D	0.96365	-3.99	3.75	-1.94	0.07571	.	0.199003	0.33650	N	0.004683	T	0.74114	0.3674	N	0.00029	-2.615	0.29177	N	0.876732	B	0.11235	0.004	B	0.10450	0.005	T	0.76702	-0.2862	10	0.87932	D	0	.	3.3356	0.07100	0.3107:0.0:0.3312:0.3581	.	140	Q8TDG2	ACTT1_HUMAN	Q	140	ENSP00000360165:H140Q	ENSP00000360165:H140Q	H	-	3	2	ACTRT1	127013447	0.956000	0.32656	0.035000	0.18076	0.096000	0.18686	0.063000	0.14410	-0.477000	0.06832	0.437000	0.28790	CAT	.		0.517	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289	
ACTRT1	139741	ucsc.edu;bcgsc.ca	37	X	127186027	127186027	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:127186027C>T	ENST00000371124.3	-	1	355	c.159G>A	c.(157-159)caG>caA	p.Q53Q		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	53						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q53Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGAAGTACTTCTGATTAAGTC	0.498																																					p.Q53Q		.											.	ACTRT1-133	1	Substitution - coding silent(1)	large_intestine(1)	c.G159A						.						96.0	87.0	90.0					X																	127186027		2203	4300	6503	SO:0001819	synonymous_variant	139741	exon1			GTACTTCTGATTA	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.159G>A	X.37:g.127186027C>T		276	3		293	95	NM_138289	0	0	0	0	0	Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	CCDS14611.1																																																																																			.		0.498	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289	
SMARCA1	6594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	128649928	128649928	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:128649928G>T	ENST00000371122.4	-	4	601	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Missense_Mutation_p.L158M|SMARCA1_ENST00000371123.1_Missense_Mutation_p.L158M	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	158					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTCTCAGACAGTAGCTCTTCA	0.368																																					p.L158M		.											.	SMARCA1-230	0			c.C472A						.						175.0	141.0	153.0					X																	128649928		2203	4300	6503	SO:0001583	missense	6594	exon4			CAGACAGTAGCTC	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.472C>A	X.37:g.128649928G>T	ENSP00000360163:p.Leu158Met	137	0		151	63	NM_139035	0	0	0	0	0	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647594	0.29246	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92495	-3.05;-3.05;-3.04;-3.02	5.16	3.11	0.35812	.	0.000000	0.52532	D	0.000074	D	0.87799	0.6268	L	0.51422	1.61	0.41028	D	0.985137	P;P;P;P	0.39903	0.568;0.568;0.694;0.568	B;B;B;B	0.40410	0.126;0.175;0.328;0.175	D	0.84388	0.0553	10	0.45353	T	0.12	-6.8952	5.8772	0.18836	0.4599:0.0:0.5401:0.0	.	137;158;158;158	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	M	158;158;158;137	ENSP00000360162:L158M;ENSP00000360164:L158M;ENSP00000360163:L158M;ENSP00000404275:L137M	ENSP00000360162:L158M	L	-	1	2	SMARCA1	128477609	0.999000	0.42202	0.027000	0.17364	0.905000	0.53344	2.938000	0.48987	0.954000	0.37851	-0.268000	0.10319	CTG	.		0.368	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
XPNPEP2	7512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	128888456	128888456	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:128888456C>T	ENST00000371106.3	+	12	1308	c.1116C>T	c.(1114-1116)gaC>gaT	p.D372D		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	372						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGTGCGGGACGCTGTGGCTG	0.592																																					p.D372D		.											.	XPNPEP2-130	0			c.C1116T						.						45.0	31.0	36.0					X																	128888456		2197	4294	6491	SO:0001819	synonymous_variant	7512	exon12			GCGGGACGCTGTG	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1116C>T	X.37:g.128888456C>T		95	0		131	38	NM_003399	0	0	0	0	0	A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	CCDS14613.1																																																																																			.		0.592	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	
ZDHHC9	51114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	128940383	128940383	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:128940383G>T	ENST00000357166.6	-	11	1449	c.1058C>A	c.(1057-1059)cCa>cAa	p.P353Q	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.P353Q	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	353					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TGGTGGCTCTGGGGGCTCTGG	0.502																																					p.P353Q		.											.	ZDHHC9-131	0			c.C1058A						.						110.0	104.0	106.0					X																	128940383		2203	4300	6503	SO:0001583	missense	51114	exon10			GGCTCTGGGGGCT	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.1058C>A	X.37:g.128940383G>T	ENSP00000349689:p.Pro353Gln	85	0		96	29	NM_001008222	0	0	0	0	0	B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738807	0.30774	.	.	ENSG00000188706	ENST00000357166;ENST00000371064	T;T	0.40476	1.03;1.03	5.48	5.48	0.80851	.	0.280266	0.39615	N	0.001308	T	0.49474	0.1559	L	0.29908	0.895	0.38104	D	0.937366	D	0.64830	0.994	D	0.76071	0.987	T	0.42068	-0.9473	10	0.12766	T	0.61	-2.2279	14.9853	0.71342	0.0:0.0:1.0:0.0	.	353	Q9Y397	ZDHC9_HUMAN	Q	353	ENSP00000349689:P353Q;ENSP00000360103:P353Q	ENSP00000349689:P353Q	P	-	2	0	ZDHHC9	128768064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.270000	0.65547	2.289000	0.77006	0.544000	0.68410	CCA	.		0.502	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032	
UTP14A	10813	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	129053172	129053172	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129053172G>A	ENST00000394422.3	+	7	587	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	UTP14A_ENST00000371051.5_Missense_Mutation_p.E133K|UTP14A_ENST00000425117.2_Missense_Mutation_p.E135K|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.E19K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	187					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CCTGGAGCAGGAAATTTTCAA	0.458																																					p.E187K		.											.	UTP14A-132	0			c.G559A						.						107.0	102.0	104.0					X																	129053172		2203	4300	6503	SO:0001583	missense	10813	exon7			GAGCAGGAAATTT	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.559G>A	X.37:g.129053172G>A	ENSP00000377944:p.Glu187Lys	146	0		173	33	NM_006649	0	0	0	0	0	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143025	0.94560	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	1.0;0.972;1.0	D;D;D	0.91635	0.998;0.958;0.999	T	0.02603	-1.1135	10	0.16420	T	0.52	-24.201	19.4993	0.95086	0.0:0.0:1.0:0.0	.	133;135;187	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	K	135;187;133;19;19	ENSP00000388669:E135K;ENSP00000377944:E187K;ENSP00000360090:E133K;ENSP00000413187:E19K;ENSP00000360081:E19K	ENSP00000360081:E19K	E	+	1	0	UTP14A	128880853	1.000000	0.71417	0.369000	0.25952	0.873000	0.50193	7.528000	0.81941	2.559000	0.86315	0.597000	0.82753	GAA	.		0.458	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	
BCORL1	63035	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	129148844	129148844	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129148844C>A	ENST00000218147.7	+	4	2293	c.2096C>A	c.(2095-2097)cCg>cAg	p.P699Q	BCORL1_ENST00000540052.1_Missense_Mutation_p.P699Q|BCORL1_ENST00000359304.2_Missense_Mutation_p.P699Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.P699Q			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	699					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AATGGGGACCCGAGCACCTGG	0.597																																					p.P699Q		.											.	BCORL1-294	0			c.C2096A						.						81.0	65.0	71.0					X																	129148844		2203	4300	6503	SO:0001583	missense	63035	exon3			GGGACCCGAGCAC	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2096C>A	X.37:g.129148844C>A	ENSP00000218147:p.Pro699Gln	188	1		229	76	NM_021946	0	0	0	0	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	8.367	0.834491	0.16820	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.54071	0.63;0.97;0.59;0.63;1.06	5.28	5.28	0.74379	.	0.000000	0.36374	N	0.002633	T	0.50394	0.1613	N	0.08118	0	0.31757	N	0.633898	D;D	0.89917	1.0;0.983	D;P	0.91635	0.999;0.579	T	0.55296	-0.8163	10	0.23891	T	0.37	-11.1533	12.7159	0.57115	0.2181:0.7819:0.0:0.0	.	699;699	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	Q	699;699;699;699;299	ENSP00000218147:P699Q;ENSP00000307541:P699Q;ENSP00000352253:P699Q;ENSP00000437775:P699Q;ENSP00000399483:P299Q	ENSP00000218147:P699Q	P	+	2	0	BCORL1	128976525	0.981000	0.34729	0.376000	0.26042	0.238000	0.25445	2.607000	0.46300	2.205000	0.71048	0.436000	0.28706	CCG	.		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
BCORL1	63035	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	129154972	129154972	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129154972C>A	ENST00000218147.7	+	5	3651	c.3454C>A	c.(3454-3456)Ccc>Acc	p.P1152T	BCORL1_ENST00000540052.1_Missense_Mutation_p.P1152T|BCORL1_ENST00000359304.2_Missense_Mutation_p.P1152T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1152T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1152					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCGGAAGCTGCCCAGTGACCC	0.557																																					p.P1152T		.											.	BCORL1-294	0			c.C3454A						.						28.0	32.0	31.0					X																	129154972		2203	4300	6503	SO:0001583	missense	63035	exon4			AAGCTGCCCAGTG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3454C>A	X.37:g.129154972C>A	ENSP00000218147:p.Pro1152Thr	153	1		174	66	NM_021946	0	0	0	0	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.929|8.929	0.962947|0.962947	0.18583|0.18583	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.43688	.|0.99;1.35;0.94;0.99;1.43	6.17|6.17	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.36374	.|N	.|0.002626	T|T	0.29620|0.29620	0.0739|0.0739	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P;B	.|0.42248	.|0.774;0.146	.|B;B	.|0.39805	.|0.31;0.038	T|T	0.11690|0.11690	-1.0577|-1.0577	5|10	.|0.13470	.|T	.|0.59	-3.7679|-3.7679	13.2708|13.2708	0.60159|0.60159	0.0:0.9249:0.0:0.0751|0.0:0.9249:0.0:0.0751	.|.	.|1152;1152	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	D|T	587|1152;1152;1152;1152;752	.|ENSP00000218147:P1152T;ENSP00000307541:P1152T;ENSP00000352253:P1152T;ENSP00000437775:P1152T;ENSP00000399483:P752T	.|ENSP00000218147:P1152T	A|P	+|+	2|1	0|0	BCORL1|BCORL1	128982653|128982653	0.245000|0.245000	0.23899|0.23899	0.030000|0.030000	0.17652|0.17652	0.110000|0.110000	0.19582|0.19582	1.625000|1.625000	0.37029|0.37029	1.333000|1.333000	0.45449|0.45449	0.600000|0.600000	0.82982|0.82982	GCC|CCC	.		0.557	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
BCORL1	63035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	129173157	129173157	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129173157G>T	ENST00000218147.7	+	10	4715	c.4518G>T	c.(4516-4518)tgG>tgT	p.W1506C	BCORL1_ENST00000540052.1_Missense_Mutation_p.W1506C|BCORL1_ENST00000359304.2_Missense_Mutation_p.W1376C|BCORL1_ENST00000303743.5_Missense_Mutation_p.W1580C			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1506					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGACCATCTGGCTCCTGCTGT	0.582																																					p.W1506C		.											.	BCORL1-294	0			c.G4518T						.						137.0	90.0	106.0					X																	129173157		2203	4300	6503	SO:0001583	missense	63035	exon9			CATCTGGCTCCTG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4518G>T	X.37:g.129173157G>T	ENSP00000218147:p.Trp1506Cys	130	0		148	41	NM_021946	0	0	0	0	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104688	0.77096	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.70399	-0.08;-0.48;-0.48;-0.08;-0.48	5.19	5.19	0.71726	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.70971	0.3285	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.996	T	0.75213	-0.3397	9	0.36615	T	0.2	-6.7478	17.9385	0.89020	0.0:0.0:1.0:0.0	.	1580;1506	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	C	1506;1580;1376;1506;1180	ENSP00000218147:W1506C;ENSP00000307541:W1580C;ENSP00000352253:W1376C;ENSP00000437775:W1506C;ENSP00000399483:W1180C	ENSP00000218147:W1506C	W	+	3	0	BCORL1	129000838	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.584000	0.60971	2.169000	0.68431	0.529000	0.55759	TGG	.		0.582	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
AIFM1	9131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	129289211	129289211	+	Intron	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129289211C>A	ENST00000287295.3	-	2	480				AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000319908.3_Missense_Mutation_p.G53C|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CCAGAAGCACCTGTAGATGCT	0.423																																					p.G53C		.											.	AIFM1-586	0			c.G157T						.						158.0	147.0	151.0					X																	129289211		2203	4300	6503	SO:0001627	intron_variant	9131	exon2			AAGCACCTGTAGA	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.249+1223G>T	X.37:g.129289211C>A		164	0		227	82	NM_145812	0	0	0	0	0	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390945	0.62066	.	.	ENSG00000156709	ENST00000319908	T	0.49139	0.79	4.4	4.4	0.53042	.	.	.	.	.	T	0.64103	0.2568	.	.	.	0.80722	D	1	D	0.67145	0.996	P	0.58970	0.849	T	0.70432	-0.4873	8	0.87932	D	0	.	14.8057	0.69952	0.0:1.0:0.0:0.0	.	53	O95831-3	.	C	53	ENSP00000315122:G53C	ENSP00000315122:G53C	G	-	1	0	AIFM1	129116892	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.456000	0.60081	2.191000	0.70037	0.513000	0.50165	GGT	.		0.423	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2		
ENOX2	10495	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	129843245	129843245	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129843245C>A	ENST00000370927.1	-	1	42	c.21G>T	c.(19-21)tgG>tgT	p.W7C	ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000338144.3_Missense_Mutation_p.W7C|ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000492263.1_5'UTR			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	7					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGACCCACAGCCATCTAAAAT	0.433																																					p.W7C	Ovarian(101;828 1506 2951 9500 35258)	.											.	ENOX2-131	0			c.G21T						.						191.0	146.0	161.0					X																	129843245		2203	4300	6503	SO:0001583	missense	10495	exon4			CCACAGCCATCTA	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.21G>T	X.37:g.129843245C>A	ENSP00000359965:p.Trp7Cys	159	0		192	63	NM_182314	0	0	0	0	0	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769437	0.31320	.	.	ENSG00000165675	ENST00000338144;ENST00000370927	.	.	.	2.92	2.02	0.26589	.	0.353337	0.22667	N	0.057110	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22277	-1.0221	8	.	.	.	.	6.8973	0.24262	0.0:0.7169:0.2831:0.0	.	7	Q16206	ENOX2_HUMAN	C	7	.	.	W	-	3	0	ENOX2	129670926	0.040000	0.19996	0.036000	0.18154	0.135000	0.20990	0.136000	0.15974	0.597000	0.29811	0.600000	0.82982	TGG	.		0.433	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314	
ARHGAP36	158763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	130222738	130222738	+	Silent	SNP	C	C	G	rs367946269		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:130222738C>G	ENST00000276211.5	+	12	1968	c.1623C>G	c.(1621-1623)ggC>ggG	p.G541G	ARHGAP36_ENST00000370921.1_Silent_p.G405G|ARHGAP36_ENST00000370922.1_Silent_p.G529G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	541					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCAAAACTGGCGTCAGCTACT	0.547																																					p.G541G		.											.	ARHGAP36-133	0			c.C1623G						.						86.0	80.0	82.0					X																	130222738		2203	4300	6503	SO:0001819	synonymous_variant	158763	exon12			AACTGGCGTCAGC		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1623C>G	X.37:g.130222738C>G		125	0		116	37	NM_144967	0	0	0	0	0	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	CCDS14628.1																																																																																			.		0.547	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
IGSF1	3547	ucsc.edu;bcgsc.ca	37	X	130419880	130419880	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:130419880G>T	ENST00000361420.3	-	4	319	c.240C>A	c.(238-240)atC>atA	p.I80I	IGSF1_ENST00000370910.1_Silent_p.I71I|IGSF1_ENST00000370904.1_Silent_p.I71I|IGSF1_ENST00000370901.4_Silent_p.I80I|IGSF1_ENST00000370903.3_Silent_p.I80I|IGSF1_ENST00000370900.1_Silent_p.I80I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	80	Ig-like C2-type 1.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGAAGGGCGGATCCAGGTCA	0.537																																					p.I80I		.											.	IGSF1-133	0			c.C240A						.						184.0	154.0	164.0					X																	130419880		2203	4300	6503	SO:0001819	synonymous_variant	3547	exon4			AGGGCGGATCCAG	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.240C>A	X.37:g.130419880G>T		194	2		256	87	NM_001555	0	0	0	0	0	B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	CCDS14629.1																																																																																			.		0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
FRMD7	90167	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	131214283	131214283	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:131214283T>C	ENST00000298542.4	-	10	1092	c.917A>G	c.(916-918)cAa>cGa	p.Q306R	FRMD7_ENST00000370879.1_Missense_Mutation_p.Q186R|FRMD7_ENST00000464296.1_Missense_Mutation_p.Q291R	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	306					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGTTGCCTTTGGGTTCGTCC	0.368																																					p.Q306R		.											.	FRMD7-228	0			c.A917G						.						133.0	118.0	123.0					X																	131214283		2203	4300	6503	SO:0001583	missense	90167	exon10			TGCCTTTGGGTTC	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.917A>G	X.37:g.131214283T>C	ENSP00000298542:p.Gln306Arg	185	1		205	60	NM_194277	0	0	0	0	0	C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471188	0.84533	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.89270	-2.49;-2.49;-2.49	5.6	5.6	0.85130	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.94627	0.8268	M	0.85630	2.765	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.977	D	0.95286	0.8390	10	0.87932	D	0	.	13.8483	0.63481	0.0:0.0:0.0:1.0	.	291;306	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	R	186;306;291	ENSP00000359916:Q186R;ENSP00000298542:Q306R;ENSP00000417996:Q291R	ENSP00000298542:Q306R	Q	-	2	0	FRMD7	131041964	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.449000	0.80643	1.867000	0.54127	0.486000	0.48141	CAA	.		0.368	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
RAP2C	57826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	131348263	131348263	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:131348263C>A	ENST00000342983.2	-	3	1231	c.485G>T	c.(484-486)aGg>aTg	p.R162M	RAP2C_ENST00000370874.1_Missense_Mutation_p.R162M|RAP2C_ENST00000460462.1_5'UTR|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	162					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GTTCATTTGCCTGACGATCTC	0.458																																					p.R162M		.											.	RAP2C-848	0			c.G485T						.						128.0	106.0	113.0					X																	131348263		2203	4299	6502	SO:0001583	missense	57826	exon3			ATTTGCCTGACGA	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.485G>T	X.37:g.131348263C>A	ENSP00000340274:p.Arg162Met	417	0		447	150	NM_021183	0	0	0	0	0	B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611601	0.87258	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.79352	-1.26;-1.26	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.91192	0.7225	M	0.93638	3.44	0.58432	D	0.999998	D	0.76494	0.999	D	0.68192	0.956	D	0.93335	0.6704	10	0.87932	D	0	.	18.7107	0.91655	0.0:1.0:0.0:0.0	.	162	Q9Y3L5	RAP2C_HUMAN	M	162	ENSP00000340274:R162M;ENSP00000359911:R162M	ENSP00000340274:R162M	R	-	2	0	RAP2C	131175944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.448000	0.80631	2.363000	0.80096	0.556000	0.70494	AGG	.		0.458	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183	
DDX26B	203522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	134679347	134679347	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:134679347G>T	ENST00000370752.4	+	3	523		c.e3-1		DDX26B_ENST00000481908.1_Splice_Site	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B											large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTTTGCAGGCTGGTTGGA	0.353																																					.		.											.	DDX26B-226	0			c.190-1G>T						.						73.0	72.0	72.0					X																	134679347		2203	4300	6503	SO:0001630	splice_region_variant	203522	exon3			TTTGCAGGCTGGT	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.190-1G>T	X.37:g.134679347G>T		117	0		138	49	NM_182540	0	0	0	0	0	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Splice_Site	SNP	ENST00000370752.4	37	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807375	0.70797	.	.	ENSG00000165359	ENST00000370752	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7163	0.88338	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX26B	134507013	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.401000	0.81631	0.600000	0.82982	.	.		0.353	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	Intron
DDX26B	203522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	134707987	134707987	+	Splice_Site	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:134707987G>C	ENST00000370752.4	+	12	1964	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	544										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAGATGAAGGTAAAATAAC	0.348																																					p.D544H		.											.	DDX26B-226	0			c.G1630C						.						42.0	41.0	41.0					X																	134707987		2203	4300	6503	SO:0001630	splice_region_variant	203522	exon12			GATGAAGGTAAAA	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1630+1G>C	X.37:g.134707987G>C		242	0		208	65	NM_182540	0	0	0	0	0	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943966	0.73672	.	.	ENSG00000165359	ENST00000370752	T	0.55930	0.49	5.0	5.0	0.66597	.	0.194160	0.52532	D	0.000068	T	0.75722	0.3888	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.80982	-0.1139	10	0.87932	D	0	-16.1637	16.317	0.82931	0.0:0.0:1.0:0.0	.	544;544	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	H	544	ENSP00000359788:D544H	ENSP00000359788:D544H	D	+	1	0	DDX26B	134535653	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.213000	0.95133	2.049000	0.60858	0.513000	0.50165	GAT	.		0.348	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	Missense_Mutation
SAGE1	55511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	134992242	134992242	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:134992242G>T	ENST00000370709.3	+	14	1777	c.1777G>T	c.(1777-1779)Gca>Tca	p.A593S	SAGE1_ENST00000324447.3_Missense_Mutation_p.A593S|SAGE1_ENST00000537770.1_Missense_Mutation_p.A217S|SAGE1_ENST00000535938.1_Missense_Mutation_p.A593S			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	593						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGGCCAAGCAGCATCCGATAA	0.393																																					p.A593S		.											.	SAGE1-133	0			c.G1777T						.						127.0	112.0	117.0					X																	134992242		2203	4300	6503	SO:0001583	missense	55511	exon15			CAAGCAGCATCCG	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1777G>T	X.37:g.134992242G>T	ENSP00000359743:p.Ala593Ser	295	0		270	90	NM_018666	0	0	0	0	0	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662754	0.29515	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.34859	1.43;1.43;1.34;1.43	1.33	-1.38	0.09027	.	0.154328	0.43416	U	0.000574	T	0.25938	0.0632	N	0.14661	0.345	0.09310	N	1	P;D	0.54964	0.936;0.969	P;P	0.54629	0.757;0.757	T	0.27088	-1.0084	10	0.29301	T	0.29	.	6.5512	0.22436	0.0:0.418:0.582:0.0	.	217;593	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	S	593;593;217;593	ENSP00000323191:A593S;ENSP00000445959:A593S;ENSP00000438276:A217S;ENSP00000359743:A593S	ENSP00000323191:A593S	A	+	1	0	SAGE1	134819908	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.320000	0.08028	-0.448000	0.07128	0.171000	0.16805	GCA	.		0.393	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
SLC9A6	10479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	135098854	135098854	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135098854G>T	ENST00000370698.3	+	10	1226	c.1191G>T	c.(1189-1191)atG>atT	p.M397I	SLC9A6_ENST00000370695.4_Missense_Mutation_p.M429I|SLC9A6_ENST00000370701.1_Missense_Mutation_p.M377I	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	397					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCTCCTACATGGGGCTGACAC	0.328																																					p.M429I		.											.	SLC9A6-131	0			c.G1287T						.						132.0	112.0	119.0					X																	135098854		2203	4300	6503	SO:0001583	missense	10479	exon10			CTACATGGGGCTG	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1191G>T	X.37:g.135098854G>T	ENSP00000359732:p.Met397Ile	101	0		100	40	NM_001042537	0	0	0	0	0	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435248	0.43224	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.13307	2.6;2.6;2.6	5.67	5.67	0.87782	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.17789	0.0427	L	0.43757	1.38	0.80722	D	1	P;B	0.36110	0.537;0.384	B;B	0.42882	0.155;0.401	T	0.04467	-1.0949	10	0.12766	T	0.61	.	17.6713	0.88218	0.0:0.0:1.0:0.0	.	429;397	Q92581-2;Q92581	.;SL9A6_HUMAN	I	377;397;429	ENSP00000359735:M377I;ENSP00000359732:M397I;ENSP00000359729:M429I	ENSP00000359729:M429I	M	+	3	0	SLC9A6	134926520	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.476000	0.97823	2.390000	0.81377	0.600000	0.82982	ATG	.		0.328	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359	
SLC9A6	10479	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	135112310	135112310	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135112310C>A	ENST00000370698.3	+	13	1575	c.1540C>A	c.(1540-1542)Caa>Aaa	p.Q514K	SLC9A6_ENST00000370695.4_Missense_Mutation_p.Q546K|SLC9A6_ENST00000370701.1_Missense_Mutation_p.Q494K	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	514					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGATTCAGACCAAGAACACTT	0.358																																					p.Q546K		.											.	SLC9A6-131	0			c.C1636A						.						300.0	241.0	261.0					X																	135112310		2203	4300	6503	SO:0001583	missense	10479	exon13			TCAGACCAAGAAC	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1540C>A	X.37:g.135112310C>A	ENSP00000359732:p.Gln514Lys	150	2		181	69	NM_001042537	0	0	0	0	0	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287819	0.40494	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.28895	1.59;1.59;1.59	4.36	4.36	0.52297	.	2.448930	0.01359	N	0.012163	T	0.39462	0.1079	M	0.65498	2.005	0.38524	D	0.948797	B;B	0.28208	0.203;0.04	B;B	0.29077	0.098;0.045	T	0.20773	-1.0265	10	0.29301	T	0.29	.	11.5451	0.50688	0.0:1.0:0.0:0.0	.	546;514	Q92581-2;Q92581	.;SL9A6_HUMAN	K	494;514;546	ENSP00000359735:Q494K;ENSP00000359732:Q514K;ENSP00000359729:Q546K	ENSP00000359729:Q546K	Q	+	1	0	SLC9A6	134939976	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.668000	0.68074	1.755000	0.51935	0.292000	0.19580	CAA	.		0.358	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359	
FHL1	2273	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	135288629	135288629	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135288629C>G	ENST00000345434.3	+	2	119	c.38C>G	c.(37-39)cCc>cGc	p.P13R	FHL1_ENST00000370690.3_Missense_Mutation_p.P13R|FHL1_ENST00000394153.2_Missense_Mutation_p.P13R|FHL1_ENST00000543669.1_Missense_Mutation_p.P13R|FHL1_ENST00000539015.1_Missense_Mutation_p.P42R|FHL1_ENST00000370683.1_Missense_Mutation_p.P29R|FHL1_ENST00000394155.2_Missense_Mutation_p.P13R|FHL1_ENST00000370676.3_Missense_Mutation_p.P29R|FHL1_ENST00000535737.1_Missense_Mutation_p.P13R|FHL1_ENST00000477080.1_3'UTR			Q13642	FHL1_HUMAN	four and a half LIM domains 1	13					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					TGCAGGGATCCCTTGCAGGGG	0.562																																					p.P42R		.											.	FHL1-130	0			c.C125G						.						174.0	153.0	160.0					X																	135288629		2203	4300	6503	SO:0001583	missense	2273	exon2			GGGATCCCTTGCA	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.38C>G	X.37:g.135288629C>G	ENSP00000071281:p.Pro13Arg	439	1		447	77	NM_001159701	0	0	0	0	0	B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	C	7.223	0.597693	0.13875	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.73	1.78	0.24846	Zinc finger, LIM-type (1);	0.738848	0.13591	N	0.376563	D	0.83903	0.5355	L	0.45352	1.415	0.09310	N	1	B;B;B;B	0.33212	0.402;0.19;0.286;0.136	B;B;B;B	0.38500	0.275;0.093;0.123;0.058	T	0.73742	-0.3887	10	0.72032	D	0.01	.	11.0707	0.48002	0.4921:0.3963:0.1116:0.0	.	42;29;29;13	B7Z793;Q5JXI2;B7Z5T4;Q13642	.;.;.;FHL1_HUMAN	R	13;13;13;13;13;13;13;13;13;13;53;13;13;42;29;29;29;13	ENSP00000377710:P13R;ENSP00000359724:P13R;ENSP00000391779:P13R;ENSP00000389920:P13R;ENSP00000444815:P13R;ENSP00000408038:P13R;ENSP00000413798:P13R;ENSP00000443333:P13R;ENSP00000377709:P13R;ENSP00000412642:P13R;ENSP00000414604:P13R;ENSP00000071281:P13R;ENSP00000437673:P42R;ENSP00000359717:P29R;ENSP00000359710:P29R;ENSP00000359708:P13R	ENSP00000071281:P13R	P	+	2	0	FHL1	135116295	0.002000	0.14202	0.036000	0.18154	0.245000	0.25701	1.707000	0.37888	-0.082000	0.12640	-1.156000	0.01807	CCC	.		0.562	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449	
MAP7D3	79649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	135313958	135313958	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135313958C>T	ENST00000316077.9	-	8	1378	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	MAP7D3_ENST00000370661.1_Silent_p.P351P|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Silent_p.P368P	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	386					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGCTCGCCTCCGGGGATGCTA	0.602																																					p.P386P		.											.	MAP7D3-110	0			c.G1158A						.						61.0	61.0	61.0					X																	135313958		2025	4180	6205	SO:0001819	synonymous_variant	79649	exon8			CGCCTCCGGGGAT	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1158G>A	X.37:g.135313958C>T		120	0		137	60	NM_024597	0	0	0	0	0	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	CCDS44004.1																																																																																			.		0.602	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		
GPR112	139378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	135428212	135428212	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135428212G>C	ENST00000394143.1	+	6	2638	c.2347G>C	c.(2347-2349)Gtt>Ctt	p.V783L	GPR112_ENST00000370652.1_Missense_Mutation_p.V783L|GPR112_ENST00000394141.1_Missense_Mutation_p.V578L|GPR112_ENST00000412101.1_Missense_Mutation_p.V578L|GPR112_ENST00000287534.4_Missense_Mutation_p.V720L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	783					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGAGACTGTTGTTCCATCAGT	0.358																																					p.V783L		.											.	GPR112-183	0			c.G2347C						.						76.0	69.0	71.0					X																	135428212		2203	4300	6503	SO:0001583	missense	139378	exon6			ACTGTTGTTCCAT	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2347G>C	X.37:g.135428212G>C	ENSP00000377699:p.Val783Leu	286	0		250	87	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	11.71	1.721164	0.30503	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34072	1.42;1.42;1.38;1.51;1.38	2.86	0.922	0.19408	.	.	.	.	.	T	0.24353	0.0590	L	0.29908	0.895	0.09310	N	1	P;B;P	0.41929	0.684;0.349;0.765	B;B;B	0.42112	0.376;0.186;0.209	T	0.14839	-1.0458	9	0.59425	D	0.04	.	2.4185	0.04442	0.1776:0.0:0.5201:0.3023	.	720;578;783	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	783;783;578;720;578	ENSP00000377699:V783L;ENSP00000359686:V783L;ENSP00000416526:V578L;ENSP00000287534:V720L;ENSP00000377697:V578L	ENSP00000287534:V720L	V	+	1	0	GPR112	135255878	0.003000	0.15002	0.003000	0.11579	0.077000	0.17291	-0.213000	0.09305	0.362000	0.24319	0.279000	0.19357	GTT	.		0.358	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GPR112	139378	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	135430562	135430562	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135430562C>A	ENST00000394143.1	+	6	4988	c.4697C>A	c.(4696-4698)cCa>cAa	p.P1566Q	GPR112_ENST00000370652.1_Missense_Mutation_p.P1566Q|GPR112_ENST00000394141.1_Missense_Mutation_p.P1361Q|GPR112_ENST00000412101.1_Missense_Mutation_p.P1361Q|GPR112_ENST00000287534.4_Missense_Mutation_p.P1503Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1566					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCTCAATACCAGTTAATAAC	0.418																																					p.P1566Q		.											.	GPR112-183	0			c.C4697A						.						136.0	128.0	131.0					X																	135430562		2203	4300	6503	SO:0001583	missense	139378	exon6			CAATACCAGTTAA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4697C>A	X.37:g.135430562C>A	ENSP00000377699:p.Pro1566Gln	224	1		241	72	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	12.26	1.885361	0.33255	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32753	1.48;1.48;1.44;1.57;1.44	2.86	2.86	0.33363	.	.	.	.	.	T	0.32102	0.0818	N	0.24115	0.695	0.09310	N	1	P;D;P	0.55385	0.95;0.971;0.952	P;P;P	0.55391	0.55;0.775;0.601	T	0.08106	-1.0738	9	0.66056	D	0.02	.	9.1772	0.37118	0.0:1.0:0.0:0.0	.	1503;1361;1566	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Q	1566;1566;1361;1503;1361	ENSP00000377699:P1566Q;ENSP00000359686:P1566Q;ENSP00000416526:P1361Q;ENSP00000287534:P1503Q;ENSP00000377697:P1361Q	ENSP00000287534:P1503Q	P	+	2	0	GPR112	135258228	0.358000	0.24947	0.025000	0.17156	0.006000	0.05464	2.252000	0.43196	1.390000	0.46547	0.287000	0.19450	CCA	.		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GPR112	139378	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	135474475	135474475	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:135474475C>A	ENST00000394143.1	+	17	8287	c.7996C>A	c.(7996-7998)Cca>Aca	p.P2666T	GPR112_ENST00000370652.1_Missense_Mutation_p.P2666T|GPR112_ENST00000394141.1_Missense_Mutation_p.P2461T|GPR112_ENST00000412101.1_Missense_Mutation_p.P2461T|GPR112_ENST00000287534.4_Missense_Mutation_p.P2419T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2666					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTAGCTGACCCAGTGGTTAT	0.393																																					p.P2666T		.											.	GPR112-183	0			c.C7996A						.						132.0	122.0	126.0					X																	135474475		2203	4300	6503	SO:0001583	missense	139378	exon17			GCTGACCCAGTGG	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7996C>A	X.37:g.135474475C>A	ENSP00000377699:p.Pro2666Thr	294	1		302	80	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803752	0.70682	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.36878	1.24;1.24;1.23;1.44;1.23	5.25	5.25	0.73442	.	.	.	.	.	T	0.54078	0.1836	L	0.43923	1.385	0.44359	D	0.997258	D;P	0.76494	0.999;0.796	D;P	0.76575	0.988;0.908	T	0.56890	-0.7904	9	0.87932	D	0	.	17.8456	0.88729	0.0:1.0:0.0:0.0	.	2461;2666	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	T	2666;2666;2461;2419;2461	ENSP00000377699:P2666T;ENSP00000359686:P2666T;ENSP00000416526:P2461T;ENSP00000287534:P2419T;ENSP00000377697:P2461T	ENSP00000287534:P2419T	P	+	1	0	GPR112	135302141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.733000	0.62036	2.334000	0.79466	0.600000	0.82982	CCA	.		0.393	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
FGF13	2258	ucsc.edu;bcgsc.ca;mdanderson.org	37	X	137749950	137749950	+	Intron	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:137749950G>T	ENST00000315930.6	-	4	1064				FGF13_ENST00000305414.4_Intron|FGF13_ENST00000541469.1_Intron|FGF13_ENST00000370603.3_Intron|MIR504_ENST00000385065.1_RNA|FGF13_ENST00000441825.2_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13						cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCTCCCAACAGCAGCTGATTC	0.463																																					.		.											.	.	0			.						.						80.0	65.0	69.0					X																	137749950		1565	3581	5146	SO:0001627	intron_variant	574507	.			CCAACAGCAGCTG	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.403-32134C>A	X.37:g.137749950G>T		53	0		53	23	.	0	0	0	0	0	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	RNA	SNP	ENST00000315930.6	37	CCDS14665.1																																																																																			.		0.463	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114	
FGF13	2258	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	137790993	137790993	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:137790993C>A	ENST00000315930.6	-	2	946	c.285G>T	c.(283-285)gaG>gaT	p.E95D	FGF13_ENST00000305414.4_Missense_Mutation_p.E42D|FGF13_ENST00000541469.1_Missense_Mutation_p.E49D|FGF13_ENST00000370603.3_Missense_Mutation_p.E105D|FGF13-AS1_ENST00000446383.1_RNA|FGF13_ENST00000441825.2_Missense_Mutation_p.E76D	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	95	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGTGCTGTCCTCATCTTTGG	0.398																																					p.E105D		.											.	FGF13-626	0			c.G315T						.						196.0	173.0	181.0					X																	137790993		2203	4300	6503	SO:0001583	missense	2258	exon4			GCTGTCCTCATCT	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.285G>T	X.37:g.137790993C>A	ENSP00000322390:p.Glu95Asp	126	2		131	35	NM_001139500	0	0	0	0	0	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	6.872	0.530248	0.13127	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.1	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	N	0.17248	0.465	0.52501	D	0.999958	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.10450	0.002;0.005;0.001;0.003	T	0.51268	-0.8727	10	0.02654	T	1	.	8.3667	0.32391	0.0:0.6737:0.0:0.3263	.	49;105;42;95	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	D	95;42;76;105;49;105;111	ENSP00000322390:E95D;ENSP00000303391:E42D;ENSP00000409276:E76D;ENSP00000359635:E105D;ENSP00000437903:E49D;ENSP00000396198:E105D;ENSP00000406916:E111D	ENSP00000303391:E42D	E	-	3	2	FGF13	137618659	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.867000	0.27968	0.946000	0.37632	0.513000	0.50165	GAG	.		0.398	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114	
MCF2	4168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	138699719	138699719	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:138699719G>T	ENST00000370576.4	-	8	1161	c.952C>A	c.(952-954)Cgg>Agg	p.R318R	MCF2_ENST00000519895.1_Silent_p.R378R|MCF2_ENST00000520602.1_Silent_p.R378R|MCF2_ENST00000414978.1_Silent_p.R378R|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000370578.4_Silent_p.R463R|MCF2_ENST00000536274.1_Silent_p.R279R|MCF2_ENST00000370573.4_Silent_p.R318R|MCF2_ENST00000338585.6_Silent_p.R318R	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	318					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGTTGTATCCGTTTTGCTTTT	0.383																																					p.R378R		.											.	MCF2-227	0			c.C1132A						.						220.0	180.0	193.0					X																	138699719		2203	4300	6503	SO:0001819	synonymous_variant	4168	exon11			GTATCCGTTTTGC		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.952C>A	X.37:g.138699719G>T		112	0		115	35	NM_001171876	0	0	0	0	0	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	CCDS14667.1																																																																																			.		0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
MAGEC1	9947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	140993233	140993233	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:140993233C>G	ENST00000285879.4	+	4	329	c.43C>G	c.(43-45)Ctc>Gtc	p.L15V	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	15										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCCGAGTCTTCTCCAGAGTTC	0.557										HNSCC(15;0.026)																											p.L15V		.											.	MAGEC1-133	0			c.C43G						.						64.0	62.0	62.0					X																	140993233		2203	4300	6503	SO:0001583	missense	9947	exon4			AGTCTTCTCCAGA	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.43C>G	X.37:g.140993233C>G	ENSP00000285879:p.Leu15Val	99	0		114	29	NM_005462	0	0	0	0	0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	0.754	-0.771755	0.02951	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.15603	4.04;2.41	0.458	-0.615	0.11587	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	P	0.42584	0.784	B	0.33690	0.168	T	0.24977	-1.0145	8	0.87932	D	0	.	.	.	.	.	15	O60732	MAGC1_HUMAN	V	15;15;14	ENSP00000285879:L15V;ENSP00000359542:L15V	ENSP00000285879:L15V	L	+	1	0	MAGEC1	140820899	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.141000	0.10327	-0.436000	0.07254	0.179000	0.17066	CTC	.		0.557	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
MAGEC2	51438	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	141291129	141291129	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:141291129G>T	ENST00000247452.3	-	3	992	c.645C>A	c.(643-645)acC>acA	p.T215T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	215	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TACCCTCATCGGTGAGGCCTA	0.507										HNSCC(46;0.14)																											p.T215T		.											.	MAGEC2-193	0			c.C645A						.						107.0	98.0	101.0					X																	141291129		2203	4300	6503	SO:0001819	synonymous_variant	51438	exon3			CTCATCGGTGAGG	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.645C>A	X.37:g.141291129G>T		253	0		261	101	NM_016249	0	0	0	0	0	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	CCDS14678.1																																																																																			.		0.507	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249	
SPANXN3	139067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	142605191	142605191	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:142605191C>A	ENST00000370503.2	-	1	112	c.29G>T	c.(28-30)gGg>gTg	p.G10V	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	10										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CGTCTTCTCCCCATTGGTGCT	0.443																																					p.G10V		.											.	SPANXN3-132	0			c.G29T						.						269.0	236.0	247.0					X																	142605191		2203	4300	6503	SO:0001583	missense	139067	exon1			TTCTCCCCATTGG		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.29G>T	X.37:g.142605191C>A	ENSP00000359534:p.Gly10Val	111	0		118	31	NM_001009609	0	0	0	0	0	Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511797	0.27036	.	.	ENSG00000189252	ENST00000370503	T	0.25085	1.82	2.36	-1.87	0.07737	.	.	.	.	.	T	0.44435	0.1293	M	0.78637	2.42	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.29058	-1.0024	9	0.39692	T	0.17	.	6.7539	0.23501	0.0:0.5829:0.0:0.4171	.	10	Q5MJ09	SPXN3_HUMAN	V	10	ENSP00000359534:G10V	ENSP00000359534:G10V	G	-	2	0	SPANXN3	142432857	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.051000	0.03507	-0.655000	0.05387	0.509000	0.49947	GGG	.		0.443	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609	
SLITRK4	139065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	142717517	142717517	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:142717517C>T	ENST00000381779.4	-	2	1633	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	SLITRK4_ENST00000356928.1_Missense_Mutation_p.D470N|SLITRK4_ENST00000338017.4_Missense_Mutation_p.D470N	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	470						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGGAGTCAAAGGTGCCT	0.388																																					p.D470N		.											.	SLITRK4-193	0			c.G1408A						.						65.0	68.0	67.0					X																	142717517		2203	4300	6503	SO:0001583	missense	139065	exon2			TGGAGTCAAAGGT	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1408G>A	X.37:g.142717517C>T	ENSP00000371198:p.Asp470Asn	168	0		165	66	NM_001184750	0	0	0	0	0	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508560	0.27036	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.57595	0.39;0.39;0.39	5.49	5.49	0.81192	.	0.051980	0.85682	D	0.000000	T	0.44973	0.1319	L	0.33093	0.98	0.80722	D	1	B	0.15141	0.012	B	0.25614	0.062	T	0.28902	-1.0029	10	0.20519	T	0.43	-14.0182	17.0974	0.86639	0.0:1.0:0.0:0.0	.	470	Q8IW52	SLIK4_HUMAN	N	470	ENSP00000371198:D470N;ENSP00000349400:D470N;ENSP00000336627:D470N	ENSP00000336627:D470N	D	-	1	0	SLITRK4	142545183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.042000	0.57347	2.445000	0.82738	0.600000	0.82982	GAC	.		0.388	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
UBE2NL	389898	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	142967266	142967266	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:142967266G>T	ENST00000370494.1	+	1	94	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	22						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGTTCCTGGCATCAAAGC	0.522																																					p.G22C		.											.	UBE2NL-226	0			c.G64T						.						72.0	70.0	71.0					X																	142967266		2203	4300	6503	SO:0001583	missense	389898	exon1			GTTCCTGGCATCA			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.64G>T	X.37:g.142967266G>T	ENSP00000359525:p.Gly22Cys	212	1		211	79	NM_001012989	0	0	0	0	0	E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504375	0.26949	.	.	ENSG00000102069	ENST00000370494	T	0.76186	-1.0	1.1	1.1	0.20463	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44483	U	0.000450	D	0.91112	0.7202	H	0.99890	4.9	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.89548	0.3797	10	0.87932	D	0	0.002	7.8005	0.29172	0.0:0.0:1.0:0.0	.	22	Q5JXB2	UE2NL_HUMAN	C	22	ENSP00000359525:G22C	ENSP00000359525:G22C	G	+	1	0	UBE2NL	142794932	1.000000	0.71417	0.827000	0.32855	0.088000	0.18126	6.641000	0.74324	0.849000	0.35215	0.190000	0.17370	GGC	.		0.522	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989	
SLITRK2	84631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	144904123	144904123	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:144904123C>A	ENST00000370490.1	+	1	4435	c.180C>A	c.(178-180)ccC>ccA	p.P60P	SLITRK2_ENST00000434188.2_Silent_p.P60P|SLITRK2_ENST00000413937.2_Silent_p.P60P|SLITRK2_ENST00000428560.2_Silent_p.P60P|SLITRK2_ENST00000447897.2_Silent_p.P60P			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	60					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGCCCCCCCAGTATCGAA	0.433																																					p.P60P		.											.	SLITRK2-136	0			c.C180A						.						89.0	81.0	84.0					X																	144904123		2203	4300	6503	SO:0001819	synonymous_variant	84631	exon5			GCCCCCCCAGTAT	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.180C>A	X.37:g.144904123C>A		188	0		185	64	NM_001144005	0	0	0	0	0	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	CCDS14680.1																																																																																			.		0.433	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
SLITRK2	84631	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	144905093	144905093	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:144905093G>T	ENST00000370490.1	+	1	5405	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W	SLITRK2_ENST00000434188.2_Missense_Mutation_p.G384W|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G384W|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G384W|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G384W			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	384					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTAACAGGGAACTATCT	0.418																																					p.G384W		.											.	SLITRK2-136	0			c.G1150T						.						73.0	69.0	70.0					X																	144905093		2203	4300	6503	SO:0001583	missense	84631	exon5			CTAACAGGGAACT	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1150G>T	X.37:g.144905093G>T	ENSP00000359521:p.Gly384Trp	202	1		206	87	NM_001144005	0	0	0	0	0	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818653	0.71028	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.66	5.66	0.87406	.	0.054065	0.64402	D	0.000001	T	0.71779	0.3380	M	0.71206	2.165	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	T	0.74760	-0.3556	10	0.72032	D	0.01	-8.3494	15.9269	0.79624	0.0:0.0:1.0:0.0	.	384	Q9H156	SLIK2_HUMAN	W	384	ENSP00000334374:G384W;ENSP00000411681:G384W;ENSP00000359521:G384W;ENSP00000397015:G384W;ENSP00000407347:G384W;ENSP00000412010:G384W	ENSP00000334374:G384W	G	+	1	0	SLITRK2	144712785	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.545000	0.73883	2.360000	0.80028	0.594000	0.82650	GGG	.		0.418	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
SLITRK2	84631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	144905170	144905170	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:144905170C>A	ENST00000370490.1	+	1	5482	c.1227C>A	c.(1225-1227)aaC>aaA	p.N409K	SLITRK2_ENST00000434188.2_Missense_Mutation_p.N409K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N409K|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N409K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N409K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	409					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGAAACAACAGGATTGCAG	0.403																																					p.N409K		.											.	SLITRK2-136	0			c.C1227A						.						111.0	106.0	107.0					X																	144905170		2203	4300	6503	SO:0001583	missense	84631	exon5			AAACAACAGGATT	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1227C>A	X.37:g.144905170C>A	ENSP00000359521:p.Asn409Lys	242	0		257	66	NM_001144005	0	0	0	0	0	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847974	0.51164	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.49	2.6	0.31112	.	0.000000	0.85682	D	0.000000	D	0.90933	0.7150	H	0.99498	4.595	0.53005	D	0.999969	D	0.89917	1.0	D	0.97110	1.0	D	0.89205	0.3560	10	0.87932	D	0	-10.8007	8.8144	0.34987	0.0:0.7268:0.0:0.2732	.	409	Q9H156	SLIK2_HUMAN	K	409	ENSP00000334374:N409K;ENSP00000411681:N409K;ENSP00000359521:N409K;ENSP00000397015:N409K;ENSP00000407347:N409K;ENSP00000412010:N409K	ENSP00000334374:N409K	N	+	3	2	SLITRK2	144712862	1.000000	0.71417	0.993000	0.49108	0.826000	0.46750	2.735000	0.47377	0.088000	0.17205	-0.215000	0.12644	AAC	.		0.403	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
MIR892A	100126342	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	145078780	145078780	+	RNA	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:145078780G>T	ENST00000401124.1	-	0	0				MIR892B_ENST00000401279.1_RNA|MIR888_ENST00000401186.1_RNA|MIR890_ENST00000401256.1_RNA	NR_030584.1				microRNA 892a																		ACCTTTCTGAGTAGGGCATTG	0.493																																					.		.											.	.	0			.						.						41.0	34.0	36.0					X																	145078780		1566	3580	5146			100126307	.			TTCTGAGTAGGGC			Xq27.3	2011-09-12		2008-12-18	ENSG00000215943	ENSG00000215943		"""ncRNAs / Micro RNAs"""	33639	non-coding RNA	RNA, micro				MIRN892A			Standard	NR_030584		Approved	hsa-mir-892a	uc022cfq.1				X.37:g.145078780G>T		456	0		491	179	.	0	0	0	0	0		RNA	SNP	ENST00000401124.1	37																																																																																				.		0.493	MIR892A-201	KNOWN	basic	miRNA	miRNA		NR_030584	
MIR506	574511	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	146312360	146312360	+	RNA	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:146312360G>C	ENST00000384998.1	-	0	1				MIR507_ENST00000385234.1_RNA	NR_030233.1				microRNA 506																		GATGGTGGTGGCACTGACCAT	0.418																																					.		.											.	.	0			.						.						164.0	128.0	139.0					X																	146312360		1568	3582	5150			574511	.			GTGGTGGCACTGA			Xq27.3	2011-09-12		2008-12-18	ENSG00000207731	ENSG00000207731		"""ncRNAs / Micro RNAs"""	32143	non-coding RNA	RNA, micro		300877		MIRN506			Standard	NR_030233		Approved	hsa-mir-506	uc022cfu.1				X.37:g.146312360G>C		257	0		293	87	.	0	0	0	0	0		RNA	SNP	ENST00000384998.1	37																																																																																				.		0.418	MIR506-201	KNOWN	basic	miRNA	miRNA		NR_030233	
MIR509-1	574514	hgsc.bcm.edu	37	X	146340338	146340339	+	RNA	DEL	CT	CT	-	rs36092315		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:146340338_146340339delCT	ENST00000385265.1	-	0	94				MIR509-3_ENST00000390725.1_RNA|MIR509-2_ENST00000390724.1_RNA	NR_030236.1|NR_030586.1				microRNA 509-1																		ATGATTGCCACTGTCTGCAGTA	0.436																																					.		.											.	.	0			.						.																																					574514	.			TTGCCACTGTCTG			Xq27.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000208000	ENSG00000208000		"""ncRNAs / Micro RNAs"""	32146	non-coding RNA	RNA, micro		300875	"""microRNA 509"""	MIRN509, MIRN509-1			Standard	NR_030236		Approved	hsa-mir-509, hsa-mir-509-1	uc022cfy.1				X.37:g.146340338_146340339delCT		605	0		795	0	.	0	0	0	0	0		RNA	DEL	ENST00000385265.1	37																																																																																				-|0.063;T|0.937		0.436	MIR509-1-201	KNOWN	basic	miRNA	miRNA		NR_030236	
MIR509-1	574514	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	146341225	146341225	+	RNA	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:146341225C>A	ENST00000385265.1	-	0	94				MIR509-3_ENST00000390725.1_RNA|MIR509-2_ENST00000390724.1_RNA	NR_030236.1|NR_030586.1				microRNA 509-1																		ATGATTGCCACGTCTGCAGTA	0.443																																					.		.											.	.	0			.						.						328.0	259.0	280.0					X																	146341225		1568	3582	5150			100126337	.			TTGCCACGTCTGC			Xq27.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000208000	ENSG00000208000		"""ncRNAs / Micro RNAs"""	32146	non-coding RNA	RNA, micro		300875	"""microRNA 509"""	MIRN509, MIRN509-1			Standard	NR_030236		Approved	hsa-mir-509, hsa-mir-509-1	uc022cfy.1				X.37:g.146341225C>A		1460	2		1696	344	.	0	0	0	0	0		RNA	SNP	ENST00000385265.1	37																																																																																				.		0.443	MIR509-1-201	KNOWN	basic	miRNA	miRNA		NR_030236	
FMR1	2332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	147030346	147030346	+	Silent	SNP	C	C	A	rs372396040		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:147030346C>A	ENST00000370475.4	+	17	2009	c.1881C>A	c.(1879-1881)ctC>ctA	p.L627L	FMR1_ENST00000218200.8_Silent_p.L606L|FMR1_ENST00000370470.1_Silent_p.L585L|FMR1_ENST00000439526.2_Silent_p.L587L|FMR1_ENST00000370477.1_Silent_p.L577L|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000370471.3_Nonsense_Mutation_p.S537*|FMR1_ENST00000440235.2_Silent_p.L257L	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	627	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAACCACTCGTGAATGGAG	0.423									Fragile X syndrome																												p.S537X		.											.	FMR1-133	0			c.C1610A						.						132.0	113.0	119.0					X																	147030346		2203	4300	6503	SO:0001819	synonymous_variant	2332	exon16	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	ACCACTCGTGAAT	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1881C>A	X.37:g.147030346C>A		192	0		216	60	NM_001185075	0	0	0	0	0	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Nonsense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	C	37	6.213931	0.97380	.	.	ENSG00000102081	ENST00000370471	.	.	.	5.61	-0.871	0.10642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-48.5803	2.9119	0.05739	0.1135:0.1666:0.4778:0.2421	.	.	.	.	X	537	.	ENSP00000359502:S537X	S	+	2	0	FMR1	146838038	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	1.055000	0.30467	-0.092000	0.12417	-0.199000	0.12753	TCG	.		0.423	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024	
AFF2	2334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	148049222	148049222	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:148049222G>T	ENST00000370460.2	+	15	3746	c.3267G>T	c.(3265-3267)ctG>ctT	p.L1089L	AFF2_ENST00000342251.3_Splice_Site_p.L1056L|AFF2_ENST00000370457.5_Splice_Site_p.L1054L|AFF2_ENST00000286437.5_Splice_Site_p.L730L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1089					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATGCACTGGTAAGTTTCC	0.348																																					p.L1089L		.											.	AFF2-135	0			c.G3267T						.						155.0	140.0	145.0					X																	148049222		2203	4300	6503	SO:0001630	splice_region_variant	2334	exon15			TGCACTGGTAAGT	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3267+1G>T	X.37:g.148049222G>T		65	0		77	28	NM_002025	0	0	0	0	0	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																			.		0.348	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Silent
IDS	3423	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	148582538	148582538	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:148582538G>T	ENST00000340855.6	-	4	658	c.449C>A	c.(448-450)cCg>cAg	p.P150Q	IDS_ENST00000370443.4_Missense_Mutation_p.P150Q|IDS_ENST00000427113.2_5'Flank|IDS_ENST00000422081.2_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.P150Q|IDS_ENST00000541269.1_5'UTR|IDS_ENST00000490775.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	150					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAGCTATACGGAGAATCATC	0.388																																					p.P150Q		.											.	IDS-130	0			c.C449A						.						130.0	119.0	123.0					X																	148582538		2203	4300	6503	SO:0001583	missense	3423	exon4			CTATACGGAGAAT	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.449C>A	X.37:g.148582538G>T	ENSP00000339801:p.Pro150Gln	83	0		90	26	NM_006123	0	0	0	0	0	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396306	0.83011	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443	D;D;D	0.98493	-4.96;-4.96;-4.96	5.16	5.16	0.70880	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98877	0.9620	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.997	D	0.99886	1.1124	10	0.87932	D	0	.	18.0148	0.89236	0.0:0.0:1.0:0.0	.	150;60;150	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	Q	150	ENSP00000339801:P150Q;ENSP00000359470:P150Q;ENSP00000359472:P150Q	ENSP00000339801:P150Q	P	-	2	0	IDS	148390443	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	8.876000	0.92379	2.276000	0.75962	0.600000	0.82982	CCG	.		0.388	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3		
MAGEA11	4110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	148797322	148797322	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:148797322C>A	ENST00000355220.5	+	4	353	c.251C>A	c.(250-252)aCt>aAt	p.T84N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.T55N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	84						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAGAGGATCACTGGAGGAGAA	0.517																																					p.T84N		.											.	MAGEA11-132	0			c.C251A						.						149.0	134.0	139.0					X																	148797322		2203	4300	6503	SO:0001583	missense	4110	exon4			GGATCACTGGAGG		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.251C>A	X.37:g.148797322C>A	ENSP00000347358:p.Thr84Asn	206	0		227	81	NM_005366	0	0	0	0	0	Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	10.56	1.384695	0.25031	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.03035	4.07;4.43;4.39	0.69	0.69	0.18039	.	.	.	.	.	T	0.05731	0.0150	N	0.19112	0.55	0.09310	N	1	D;P	0.54772	0.968;0.947	P;P	0.61874	0.895;0.788	T	0.47289	-0.9129	8	0.20046	T	0.44	.	.	.	.	.	55;84	G5E962;P43364	.;MAGAB_HUMAN	N	55;55;84	ENSP00000391496:T55N;ENSP00000328177:T55N;ENSP00000347358:T84N	ENSP00000328177:T55N	T	+	2	0	MAGEA11	148577083	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.042000	0.12063	0.596000	0.29794	0.436000	0.28706	ACT	.		0.517	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366	
MAMLD1	10046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	149639349	149639349	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:149639349C>A	ENST00000370401.2	+	4	1814	c.1504C>A	c.(1504-1506)Caa>Aaa	p.Q502K	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q477K|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q502K|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q477K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					gcagcagcagcaAGCAAATGT	0.552																																					p.Q502K		.											.	MAMLD1-130	0			c.C1504A						.						48.0	45.0	46.0					X																	149639349		2203	4300	6503	SO:0001583	missense	10046	exon3			CAGCAGCAAGCAA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1504C>A	X.37:g.149639349C>A	ENSP00000359428:p.Gln502Lys	250	0		294	104	NM_005491	0	0	0	0	0	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.173556	0.01646	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.92	4.03	0.46877	.	0.211795	0.23863	N	0.043840	T	0.47985	0.1475	L	0.47716	1.5	0.42008	D	0.990926	B;B;B	0.14012	0.001;0.009;0.002	B;B;B	0.09377	0.001;0.004;0.003	T	0.32613	-0.9900	10	0.06625	T	0.88	0.5075	9.2494	0.37547	0.2147:0.7853:0.0:0.0	.	477;477;502	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	K	502;477;502;477	ENSP00000359428:Q502K;ENSP00000414517:Q477K;ENSP00000262858:Q502K;ENSP00000397438:Q477K	ENSP00000262858:Q502K	Q	+	1	0	MAMLD1	149390007	0.059000	0.20769	0.018000	0.16275	0.104000	0.19210	1.161000	0.31773	1.022000	0.39626	0.600000	0.82982	CAA	.		0.552	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
MTM1	4534	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	149818249	149818249	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:149818249G>C	ENST00000370396.2	+	10	982	c.928G>C	c.(928-930)Gac>Cac	p.D310H	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.D273H|MTM1_ENST00000543350.1_Missense_Mutation_p.D195H|MTM1_ENST00000542741.1_Missense_Mutation_p.D215H	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	310	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTCTTAGACATTCATAA	0.343																																					p.D310H		.											.	MTM1-228	0			c.G928C	GRCh37	CD991802	MTM1	D		.						112.0	105.0	107.0					X																	149818249		2203	4297	6500	SO:0001583	missense	4534	exon10			TTCTTAGACATTC	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.928G>C	X.37:g.149818249G>C	ENSP00000359423:p.Asp310His	152	0		174	54	NM_000252	0	0	0	0	0	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116103	0.77323	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.83	4.97	0.65823	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96137	0.8741	M	0.93283	3.4	0.54753	D	0.999987	D;D	0.71674	0.996;0.998	D;P	0.65773	0.938;0.907	D	0.96735	0.9542	10	0.87932	D	0	.	14.1344	0.65276	0.0738:0.0:0.9262:0.0	.	273;310	B7Z491;Q13496	.;MTM1_HUMAN	H	310;215;195;273	ENSP00000359423:D310H;ENSP00000444015:D215H;ENSP00000439784:D195H;ENSP00000389157:D273H	ENSP00000359423:D310H	D	+	1	0	MTM1	149568907	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.822000	0.99363	1.227000	0.43598	-0.198000	0.12761	GAC	.		0.343	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252	
MTMR1	8776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	149905230	149905230	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:149905230C>A	ENST00000370390.3	+	10	1377	c.1220C>A	c.(1219-1221)aCg>aAg	p.T407K	MTMR1_ENST00000451863.2_Missense_Mutation_p.T407K|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Missense_Mutation_p.T407K|MTMR1_ENST00000541925.1_Missense_Mutation_p.T313K|MTMR1_ENST00000445323.2_Missense_Mutation_p.T415K	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	407	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGATGGGACGCATTGGCTG	0.438																																					p.T407K		.											.	MTMR1-131	0			c.C1220A						.						97.0	80.0	86.0					X																	149905230		2203	4300	6503	SO:0001583	missense	8776	exon10			ATGGGACGCATTG	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1220C>A	X.37:g.149905230C>A	ENSP00000359417:p.Thr407Lys	170	0		148	49	NM_003828	0	0	0	0	0	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649265	0.87958	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863	D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31	5.26	5.26	0.73747	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	D	0.99289	1.0898	10	0.87932	D	0	.	18.0249	0.89265	0.0:1.0:0.0:0.0	.	407;415	Q13613;F8WA39	MTMR1_HUMAN;.	K	313;407;415;407;407	ENSP00000441879:T313K;ENSP00000359417:T407K;ENSP00000414178:T415K;ENSP00000440534:T407K;ENSP00000387446:T407K	ENSP00000359417:T407K	T	+	2	0	MTMR1	149655888	1.000000	0.71417	0.087000	0.20705	0.873000	0.50193	7.818000	0.86416	2.191000	0.70037	0.544000	0.68410	ACG	.		0.438	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
GPR50	9248	ucsc.edu;bcgsc.ca	37	X	150348568	150348568	+	Nonsense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150348568C>G	ENST00000218316.3	+	2	582	c.513C>G	c.(511-513)taC>taG	p.Y171*	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	171					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGAGTACGATCCTCGCA	0.527																																					p.Y171X		.											.	GPR50-176	0			c.C513G						.						211.0	193.0	199.0					X																	150348568		2196	4282	6478	SO:0001587	stop_gained	9248	exon2			CGAGTACGATCCT	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.513C>G	X.37:g.150348568C>G	ENSP00000218316:p.Tyr171*	251	3		274	97	NM_004224	0	0	0	0	0	Q0VGG3|Q3ZAR0	Nonsense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776994	0.70107	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	.	.	.	4.32	0.449	0.16619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7252	7.4549	0.27261	0.0:0.4281:0.0:0.5719	.	.	.	.	X	124;171	.	ENSP00000218316:Y171X	Y	+	3	2	GPR50	150099226	0.009000	0.17119	0.994000	0.49952	0.731000	0.41821	-1.007000	0.03667	-0.207000	0.10187	-0.355000	0.07637	TAC	.		0.527	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224	
GPR50	9248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	150349375	150349375	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150349375G>T	ENST00000218316.3	+	2	1389	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	440	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCTACCCTAAGCCTGCCTCTG	0.542																																					p.K440N		.											.	GPR50-176	0			c.G1320T						.						234.0	246.0	242.0					X																	150349375		2108	4219	6327	SO:0001583	missense	9248	exon2			CCCTAAGCCTGCC	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1320G>T	X.37:g.150349375G>T	ENSP00000218316:p.Lys440Asn	118	0		152	53	NM_004224	0	0	0	0	0	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	8.786	0.929483	0.18131	.	.	ENSG00000102195	ENST00000218316	T	0.76316	-1.01	3.79	2.91	0.33838	.	0.000000	0.40728	N	0.001040	T	0.59838	0.2223	N	0.24115	0.695	0.09310	N	1	B	0.33694	0.421	B	0.32289	0.143	T	0.55903	-0.8067	10	0.87932	D	0	-11.6567	4.9296	0.13910	0.1226:0.2115:0.6659:0.0	.	440	Q13585	MTR1L_HUMAN	N	440	ENSP00000218316:K440N	ENSP00000218316:K440N	K	+	3	2	GPR50	150100033	0.001000	0.12720	0.001000	0.08648	0.523000	0.34469	-0.040000	0.12104	0.938000	0.37419	0.529000	0.55759	AAG	.		0.542	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224	
FATE1	89885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	150891194	150891194	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150891194C>G	ENST00000370350.3	+	5	600	c.515C>G	c.(514-516)gCc>gGc	p.A172G		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	172						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGTGTCGGCCAGCATTGCC	0.637																																					p.A172G		.											.	FATE1-131	0			c.C515G						.						53.0	55.0	55.0					X																	150891194		2203	4300	6503	SO:0001583	missense	89885	exon5			TGTCGGCCAGCAT	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.515C>G	X.37:g.150891194C>G	ENSP00000359375:p.Ala172Gly	386	1		470	159	NM_033085	0	0	0	0	0		Missense_Mutation	SNP	ENST00000370350.3	37	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928563	0.52759	.	.	ENSG00000147378	ENST00000370350	T	0.48522	0.81	4.39	2.57	0.30868	.	0.895951	0.09373	N	0.810998	T	0.44393	0.1291	L	0.27053	0.805	0.09310	N	1	P	0.51449	0.945	P	0.55161	0.77	T	0.23976	-1.0173	10	0.25106	T	0.35	-0.7574	5.8265	0.18556	0.0:0.7427:0.0:0.2573	.	172	Q969F0	FATE1_HUMAN	G	172	ENSP00000359375:A172G	ENSP00000359375:A172G	A	+	2	0	FATE1	150641850	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.438000	0.06905	0.407000	0.25591	0.600000	0.82982	GCC	.		0.637	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085	
CNGA2	1260	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	150911588	150911588	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150911588G>T	ENST00000329903.4	+	6	646	c.613G>T	c.(613-615)Gtc>Ttc	p.V205F		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	205					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCTGCTGGTCAAAGATAC	0.448																																					p.V205F		.											.	CNGA2-193	0			c.G613T						.						102.0	80.0	88.0					X																	150911588		2203	4300	6503	SO:0001583	missense	1260	exon7			CTGCTGGTCAAAG	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.613G>T	X.37:g.150911588G>T	ENSP00000328478:p.Val205Phe	240	1		205	65	NM_005140	0	0	0	0	0	A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723016	0.68959	.	.	ENSG00000183862	ENST00000329903	D	0.98987	-5.3	5.36	5.36	0.76844	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	H	0.97682	4.055	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.97952	1.0332	10	0.87932	D	0	.	15.3997	0.74830	0.0:0.0:1.0:0.0	.	205	Q16280	CNGA2_HUMAN	F	205	ENSP00000328478:V205F	ENSP00000328478:V205F	V	+	1	0	CNGA2	150662244	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.476000	0.97823	2.229000	0.72834	0.513000	0.50165	GTC	.		0.448	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140	
CNGA2	1260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	150911921	150911921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150911921G>T	ENST00000329903.4	+	6	979	c.946G>T	c.(946-948)Gag>Tag	p.E316*		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	316					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CACTGACCCTGAGTATGGCTA	0.498																																					p.E316X		.											.	CNGA2-193	0			c.G946T						.						173.0	163.0	166.0					X																	150911921		2203	4300	6503	SO:0001587	stop_gained	1260	exon7			GACCCTGAGTATG	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.946G>T	X.37:g.150911921G>T	ENSP00000328478:p.Glu316*	296	0		319	93	NM_005140	0	0	0	0	0	A0AVD0	Nonsense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052454	0.75960	.	.	ENSG00000183862	ENST00000329903	.	.	.	4.96	4.06	0.47325	.	0.303196	0.34879	N	0.003620	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	6.2457	0.20815	0.1039:0.1865:0.7096:0.0	.	.	.	.	X	316	.	ENSP00000328478:E316X	E	+	1	0	CNGA2	150662577	1.000000	0.71417	0.995000	0.50966	0.755000	0.42902	4.432000	0.59922	0.946000	0.37632	0.529000	0.55759	GAG	.		0.498	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140	
CNGA2	1260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	150912769	150912769	+	Silent	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:150912769G>A	ENST00000329903.4	+	6	1827	c.1794G>A	c.(1792-1794)caG>caA	p.Q598Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	598					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCGACGTGCAGGAGAAGCTAG	0.577																																					p.Q598Q		.											.	CNGA2-193	0			c.G1794A						.						189.0	146.0	160.0					X																	150912769		2203	4300	6503	SO:0001819	synonymous_variant	1260	exon7			CGTGCAGGAGAAG	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1794G>A	X.37:g.150912769G>A		180	0		172	65	NM_005140	0	0	0	0	0	A0AVD0	Silent	SNP	ENST00000329903.4	37	CCDS14701.1																																																																																			.		0.577	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140	
MAGEA4	4103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	151092271	151092271	+	Silent	SNP	T	T	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:151092271T>A	ENST00000360243.2	+	3	402	c.135T>A	c.(133-135)ccT>ccA	p.P45P	MAGEA4_ENST00000370335.1_Silent_p.P45P|MAGEA4_ENST00000393921.1_Silent_p.P45P|MAGEA4_ENST00000370340.3_Silent_p.P45P|MAGEA4_ENST00000370337.4_Silent_p.P45P|MAGEA4_ENST00000276344.2_Silent_p.P45P|MAGEA4_ENST00000393920.1_Silent_p.P45P	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	45										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCTCCTCTGGTCCCTG	0.627																																					p.P45P		.											.	MAGEA4-194	0			c.T135A						.						60.0	56.0	57.0					X																	151092271		2203	4300	6503	SO:0001819	synonymous_variant	4103	exon3			CTCTCCTCTGGTC		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.135T>A	X.37:g.151092271T>A		316	0		409	134	NM_001011548	0	0	0	0	0	Q14798	Silent	SNP	ENST00000360243.2	37	CCDS14702.1																																																																																			.		0.627	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362	
PNMA5	114824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	152159412	152159412	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152159412G>C	ENST00000439251.1	-	2	1169	c.731C>G	c.(730-732)tCt>tGt	p.S244C	PNMA5_ENST00000361887.5_Missense_Mutation_p.S244C|PNMA5_ENST00000535214.1_Missense_Mutation_p.S244C|PNMA5_ENST00000452693.1_Missense_Mutation_p.S244C	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	244					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTAAACTGAGAGGCTCTAAA	0.522																																					p.S244C		.											.	PNMA5-131	0			c.C731G						.						69.0	67.0	68.0					X																	152159412		2203	4300	6503	SO:0001583	missense	114824	exon2			AACTGAGAGGCTC	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.731C>G	X.37:g.152159412G>C	ENSP00000388850:p.Ser244Cys	51	0		57	25	NM_001103150	0	0	0	0	0	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603712	0.28534	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	2.57	-1.83	0.07833	.	.	.	.	.	T	0.13841	0.0335	L	0.48642	1.525	0.09310	N	1	D	0.59357	0.985	P	0.54706	0.759	T	0.12167	-1.0558	9	0.52906	T	0.07	.	2.7351	0.05238	0.4753:0.0:0.306:0.2187	.	244	Q96PV4	PNMA5_HUMAN	C	244	ENSP00000354834:S244C;ENSP00000445775:S244C;ENSP00000388850:S244C;ENSP00000392342:S244C	ENSP00000354834:S244C	S	-	2	0	PNMA5	151910068	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.272000	0.18644	-0.643000	0.05473	0.292000	0.19580	TCT	.		0.522	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926	
PNMA3	29944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	152226512	152226512	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152226512C>T	ENST00000370264.4	+	1	1126	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	PNMA3_ENST00000370265.4_Missense_Mutation_p.P367L|PNMA3_ENST00000447306.1_Missense_Mutation_p.P367L			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	367					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCAGTACCTCTCCCTGCC	0.632																																					p.P367L		.											.	PNMA3-600	0			c.C1100T						.						26.0	29.0	28.0					X																	152226512		2203	4300	6503	SO:0001583	missense	29944	exon2			CAGTACCTCTCCC	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1100C>T	X.37:g.152226512C>T	ENSP00000359286:p.Pro367Leu	169	0		179	53	NM_013364	0	0	0	0	0	D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	c	4.247	0.044803	0.08196	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.15834	2.39;2.4;2.4	2.06	-0.502	0.12004	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38178	-0.9673	9	0.25751	T	0.34	.	1.7094	0.02889	0.3066:0.3896:0.0:0.3039	.	367	Q9UL41	PNMA3_HUMAN	L	367	ENSP00000359288:P367L;ENSP00000407642:P367L;ENSP00000359286:P367L	ENSP00000359286:P367L	P	+	2	0	PNMA3	151977168	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.082000	0.14847	-0.210000	0.10140	0.464000	0.42555	CCT	.		0.632	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364	
PNMA3	29944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	152226745	152226745	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152226745G>C	ENST00000370264.4	+	1	1359	c.1333G>C	c.(1333-1335)Gag>Cag	p.E445Q	PNMA3_ENST00000370265.4_Intron|PNMA3_ENST00000447306.1_Missense_Mutation_p.E445Q			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	445					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGCAGTTGAGTCGGGAAA	0.552																																					p.E445Q		.											.	PNMA3-600	0			c.G1333C						.						127.0	126.0	126.0					X																	152226745		2203	4300	6503	SO:0001583	missense	29944	exon2			GCAGTTGAGTCGG	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1333G>C	X.37:g.152226745G>C	ENSP00000359286:p.Glu445Gln	220	0		287	97	NM_013364	0	0	0	0	0	D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	12.72	2.022836	0.35701	.	.	ENSG00000183837	ENST00000447306;ENST00000370264	T;T	0.16073	2.37;2.37	2.12	1.22	0.21188	.	.	.	.	.	T	0.14056	0.0340	L	0.52573	1.65	0.09310	N	1	B	0.25441	0.126	B	0.20384	0.029	T	0.23833	-1.0177	9	0.35671	T	0.21	.	6.0813	0.19942	0.0:0.3181:0.6819:0.0	.	445	Q9UL41	PNMA3_HUMAN	Q	445	ENSP00000407642:E445Q;ENSP00000359286:E445Q	ENSP00000359286:E445Q	E	+	1	0	PNMA3	151977401	0.170000	0.23016	0.043000	0.18650	0.020000	0.10135	2.273000	0.43381	0.356000	0.24157	0.460000	0.39030	GAG	.		0.552	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364	
MAGEA1	4100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	152482814	152482814	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152482814G>T	ENST00000356661.5	-	3	415	c.197C>A	c.(196-198)aCt>aAt	p.T66N		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	66					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTGATGGTAGTGGGAAAGGC	0.607																																					p.T66N		.											.	MAGEA1-622	0			c.C197A						.						89.0	92.0	91.0					X																	152482814		2203	4300	6503	SO:0001583	missense	4100	exon3			ATGGTAGTGGGAA		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.197C>A	X.37:g.152482814G>T	ENSP00000349085:p.Thr66Asn	358	0		419	100	NM_004988	0	0	0	0	0	B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	G	9.523	1.108787	0.20714	.	.	ENSG00000198681	ENST00000356661	T	0.05649	3.41	1.28	-0.754	0.11065	Melanoma associated antigen, MAGE, N-terminal (1);	1.992610	0.02513	N	0.091704	T	0.21509	0.0518	M	0.84326	2.69	0.09310	N	1	D	0.60575	0.988	P	0.60541	0.876	T	0.11591	-1.0581	10	0.48119	T	0.1	.	3.91	0.09199	0.5294:0.0:0.4706:0.0	.	66	P43355	MAGA1_HUMAN	N	66	ENSP00000349085:T66N	ENSP00000349085:T66N	T	-	2	0	MAGEA1	152136008	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.053000	0.11846	-0.381000	0.07882	0.190000	0.17370	ACT	.		0.607	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988	
TREX2	11219	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	152710779	152710779	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152710779C>A	ENST00000334497.2	-	11	1380	c.239G>T	c.(238-240)cGc>cTc	p.R80L	TREX2_ENST00000414588.1_Missense_Mutation_p.R79L|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000370231.2_Missense_Mutation_p.R37L|TREX2_ENST00000402951.1_Missense_Mutation_p.R80L|TREX2_ENST00000370232.1_Missense_Mutation_p.R80L|TREX2_ENST00000338525.2_Missense_Mutation_p.R37L|TREX2_ENST00000393862.2_Missense_Mutation_p.R37L|TREX2_ENST00000330912.2_Missense_Mutation_p.R37L			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	80					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGAGGAGCGGTGGACAGC	0.657								Editing and processing nucleases																													p.R37L		.											.	TREX2-227	0			c.G110T						.						41.0	42.0	41.0					X																	152710779		2202	4299	6501	SO:0001583	missense	11219	exon2			GAGGAGCGGTGGA	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.239G>T	X.37:g.152710779C>A	ENSP00000334993:p.Arg80Leu	277	1		447	156	NM_080701	0	0	0	0	0	Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37		.	.	.	.	.	.	.	.	.	.	C	15.55	2.866097	0.51588	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.04	4.18	0.49190	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.572588	0.14640	U	0.307244	T	0.43678	0.1258	M	0.63428	1.95	0.32341	N	0.559814	D;D	0.76494	0.999;0.996	D;D	0.76575	0.988;0.953	T	0.53272	-0.8462	10	0.72032	D	0.01	0.6256	5.8999	0.18960	0.1883:0.7104:0.0:0.1013	.	79;80	Q06S70;Q9BQ50	.;TREX2_HUMAN	L	37;37;37;80;80;80;79;37	ENSP00000377442:R37L;ENSP00000333441:R37L;ENSP00000345218:R37L;ENSP00000334993:R80L;ENSP00000359252:R80L;ENSP00000386078:R80L;ENSP00000401692:R79L;ENSP00000359251:R37L	ENSP00000333441:R37L	R	-	2	0	TREX2	152363973	0.994000	0.37717	0.959000	0.39883	0.346000	0.29079	2.519000	0.45546	0.913000	0.36797	0.529000	0.55759	CGC	.		0.657	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701	
ATP2B3	492	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	152807877	152807877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152807877C>A	ENST00000349466.2	+	5	1087	c.761C>A	c.(760-762)tCa>tAa	p.S254*	ATP2B3_ENST00000370186.1_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.S254*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	254					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCGCAAGTCAGCTGACAAA	0.652																																					p.S254X		.											.	ATP2B3-109	0			c.C761A						.						93.0	63.0	73.0					X																	152807877		2203	4300	6503	SO:0001587	stop_gained	492	exon4			GCAAGTCAGCTGA	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.761C>A	X.37:g.152807877C>A	ENSP00000343886:p.Ser254*	205	1		298	114	NM_001001344	0	0	0	0	0	B7WNR8|B7WNY5|Q12995|Q16858	Nonsense_Mutation	SNP	ENST00000349466.2	37	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	42	9.389329	0.99156	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	.	.	.	5.45	5.45	0.79879	.	0.326237	0.28724	N	0.014352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1074	16.9818	0.86329	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000263519:S254X	S	+	2	0	ATP2B3	152461071	0.996000	0.38824	0.891000	0.34965	0.650000	0.38633	7.776000	0.85560	2.273000	0.75805	0.513000	0.50165	TCA	.		0.652	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
ATP2B3	492	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	152823605	152823605	+	Silent	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152823605C>A	ENST00000349466.2	+	16	2795	c.2469C>A	c.(2467-2469)tcC>tcA	p.S823S	ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370186.1_Silent_p.S809S|ATP2B3_ENST00000263519.4_Silent_p.S823S|ATP2B3_ENST00000370181.2_Silent_p.S809S|ATP2B3_ENST00000393842.1_Silent_p.S809S|ATP2B3_ENST00000359149.3_Silent_p.S823S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	823					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGCCTCCGACATCATCC	0.592																																					p.S823S		.											.	ATP2B3-109	0			c.C2469A						.						196.0	124.0	148.0					X																	152823605		2203	4300	6503	SO:0001819	synonymous_variant	492	exon15			GGCCTCCGACATC	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2469C>A	X.37:g.152823605C>A		555	2		638	220	NM_001001344	0	0	0	0	0	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	CCDS35440.1																																																																																			.		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
PNCK	139728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	152936621	152936621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152936621G>T	ENST00000370150.1	-	8	817	c.639C>A	c.(637-639)taC>taA	p.Y213*	PNCK_ENST00000370145.4_Nonsense_Mutation_p.Y230*|PNCK_ENST00000340888.3_Nonsense_Mutation_p.Y213*|PNCK_ENST00000393831.2_Nonsense_Mutation_p.Y236*|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000447676.2_Nonsense_Mutation_p.Y296*|PNCK_ENST00000370142.1_Nonsense_Mutation_p.Y236*			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTCTCGTCGTAGAAGGGGG	0.592																																					p.Y296X		.											.	PNCK-207	0			c.C888A						.						55.0	55.0	55.0					X																	152936621		2203	4300	6503	SO:0001587	stop_gained	139728	exon8			CTCGTCGTAGAAG	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.639C>A	X.37:g.152936621G>T	ENSP00000359169:p.Tyr213*	109	0		103	34	NM_001039582	0	0	0	0	0	B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Nonsense_Mutation	SNP	ENST00000370150.1	37		.	.	.	.	.	.	.	.	.	.	g	23.7	4.448350	0.84101	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	.	.	.	4.14	-1.6	0.08426	.	0.000000	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9523	6.105	0.20069	0.3672:0.1298:0.503:0.0	.	.	.	.	X	213;213;236;236;230;296;213;213	.	ENSP00000340586:Y213X	Y	-	3	2	PNCK	152589815	0.538000	0.26394	0.912000	0.35992	0.886000	0.51366	-0.366000	0.07563	-0.453000	0.07076	0.429000	0.28392	TAC	.		0.592	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452	
SLC6A8	6535	hgsc.bcm.edu	37	X	152954055	152954055	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152954055G>A	ENST00000253122.5	+	1	502	c.26G>A	c.(25-27)gGc>gAc	p.G9D	SLC6A8_ENST00000430077.2_5'Flank	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	9					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCCGAGAACGGCATCTATAGC	0.786																																					p.G9D		.											.	SLC6A8-131	0			c.G26A						.						2.0	1.0	1.0					X																	152954055		744	1011	1755	SO:0001583	missense	6535	exon1			AGAACGGCATCTA		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.26G>A	X.37:g.152954055G>A	ENSP00000253122:p.Gly9Asp	0	0		12	7	NM_005629	0	0	0	0	0	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	N	15.32	2.799892	0.50208	.	.	ENSG00000130821	ENST00000253122	T	0.74209	-0.82	2.6	2.6	0.31112	.	.	.	.	.	T	0.49575	0.1565	N	0.08118	0	0.80722	D	1	P;P	0.52842	0.956;0.956	B;B	0.39465	0.3;0.3	T	0.45659	-0.9246	9	0.26408	T	0.33	.	10.1826	0.42977	0.0:0.0:1.0:0.0	.	28;9	Q59EV7;P48029	.;SC6A8_HUMAN	D	9	ENSP00000253122:G9D	ENSP00000253122:G9D	G	+	2	0	SLC6A8	152607249	0.725000	0.28048	0.988000	0.46212	0.501000	0.33797	0.761000	0.26489	1.181000	0.42912	0.266000	0.19312	GGC	.		0.786	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1		
SLC6A8	6535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	152958807	152958807	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:152958807C>A	ENST00000253122.5	+	6	1478	c.1002C>A	c.(1000-1002)aaC>aaA	p.N334K	SLC6A8_ENST00000430077.2_Missense_Mutation_p.N219K|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	334					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	ACCGCTTCAACAACAACTGCT	0.627																																					p.N334K		.											.	SLC6A8-131	0			c.C1002A						.						49.0	51.0	50.0					X																	152958807		2203	4300	6503	SO:0001583	missense	6535	exon6			CTTCAACAACAAC		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1002C>A	X.37:g.152958807C>A	ENSP00000253122:p.Asn334Lys	269	0		361	121	NM_005629	0	0	0	0	0	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	CCDS14726.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	14.99|14.99|14.99	2.699897|2.699897|2.699897	0.48307|0.48307|0.48307	.|.|.	.|.|.	ENSG00000130821|ENSG00000130821|ENSG00000130821	ENST00000253122;ENST00000430077;ENST00000328897|ENST00000413787|ENST00000442457	T;T|T|.	0.73047|0.72615|.	-0.71;-0.71|-0.67|.	4.96|4.96|4.96	4.96|4.96|4.96	0.65561|0.65561|0.65561	.|.|.	0.000000|.|.	0.85682|.|.	U|.|.	0.000000|.|.	T|T|T	0.51261|0.51261|0.51261	0.1664|0.1664|0.1664	N|N|N	0.20530|0.20530|0.20530	0.585|0.585|0.585	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	B;B|.|.	0.33212|.|.	0.402;0.08|.|.	B;B|.|.	0.31390|.|.	0.129;0.088|.|.	T|T|T	0.47761|0.47761|0.47761	-0.9092|-0.9092|-0.9092	10|6|5	0.25106|.|.	T|.|.	0.35|.|.	.|.|.	16.0441|16.0441|16.0441	0.80707|0.80707|0.80707	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	353;334|.|.	Q59EV7;P48029|.|.	.;SC6A8_HUMAN|.|.	K|K|K	334;219;340|50|29	ENSP00000253122:N334K;ENSP00000403041:N219K|ENSP00000400463:Q50K|.	ENSP00000253122:N334K|.|.	N|Q|T	+|+|+	3|1|2	2|0|0	SLC6A8|SLC6A8|SLC6A8	152612001|152612001|152612001	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	1.431000|1.431000|1.431000	0.34925|0.34925|0.34925	2.304000|2.304000|2.304000	0.77564|0.77564|0.77564	0.529000|0.529000|0.529000	0.55759|0.55759|0.55759	AAC|CAA|ACA	.		0.627	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1		
PLXNB3	5365	hgsc.bcm.edu	37	X	153033266	153033266	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153033266G>C	ENST00000361971.5	+	3	1098	c.984G>C	c.(982-984)caG>caC	p.Q328H	PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q351H|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538282.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	328	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCATGGAGCAGGCCCGGAGAC	0.736																																					p.Q351H		.											.	PLXNB3-130	0			c.G1053C						.						7.0	6.0	6.0					X																	153033266		2055	4014	6069	SO:0001583	missense	5365	exon4			GGAGCAGGCCCGG	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.984G>C	X.37:g.153033266G>C	ENSP00000355378:p.Gln328His	5	0		81	27	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	g	1.251	-0.618588	0.03663	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.10477	2.87;2.87	4.9	-7.8	0.01214	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.816100	0.02680	N	0.109525	T	0.07188	0.0182	L	0.38175	1.15	0.18873	N	0.999986	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.001;0.003;0.004	T	0.22941	-1.0202	10	0.42905	T	0.14	.	1.7378	0.02945	0.3249:0.3483:0.1494:0.1775	.	10;351;328	B7Z9A5;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	H	351;328	ENSP00000442736:Q351H;ENSP00000355378:Q328H	ENSP00000355378:Q328H	Q	+	3	2	PLXNB3	152686460	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.838000	0.01687	-2.226000	0.00723	-1.209000	0.01634	CAG	.		0.736	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
PLXNB3	5365	ucsc.edu;bcgsc.ca	37	X	153035684	153035684	+	Silent	SNP	A	A	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153035684A>T	ENST00000361971.5	+	8	1881	c.1767A>T	c.(1765-1767)ccA>ccT	p.P589P	PLXNB3_ENST00000538776.1_Silent_p.P242P|PLXNB3_ENST00000538966.1_Silent_p.P612P|PLXNB3_ENST00000538543.1_Silent_p.P139P|PLXNB3_ENST00000538282.1_Silent_p.P199P	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	589					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCAGGTGCCACTTAACCCTC	0.617																																					p.P612P		.											.	PLXNB3-130	0			c.A1836T						.						62.0	55.0	57.0					X																	153035684		2200	4298	6498	SO:0001819	synonymous_variant	5365	exon9			GGTGCCACTTAAC	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1767A>T	X.37:g.153035684A>T		145	2		152	50	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	CCDS14729.1																																																																																			.		0.617	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
PLXNB3	5365	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	153036070	153036070	+	Silent	SNP	C	C	A	rs143446986		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153036070C>A	ENST00000361971.5	+	10	2097	c.1983C>A	c.(1981-1983)ggC>ggA	p.G661G	PLXNB3_ENST00000538776.1_Silent_p.G314G|PLXNB3_ENST00000538966.1_Silent_p.G684G|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.G271G	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	661	PSI 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCAGAGGGCGAGAGGACCA	0.667																																					p.G684G		.											.	PLXNB3-130	0			c.C2052A						.						38.0	30.0	33.0					X																	153036070		2193	4293	6486	SO:0001819	synonymous_variant	5365	exon11			AGAGGGCGAGAGG	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1983C>A	X.37:g.153036070C>A		240	1		301	97	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	CCDS14729.1																																																																																			C|1.000;T|0.000		0.667	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
PLXNB3	5365	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153036423	153036423	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153036423C>A	ENST00000361971.5	+	12	2254	c.2140C>A	c.(2140-2142)Ctg>Atg	p.L714M	PLXNB3_ENST00000538776.1_Missense_Mutation_p.L367M|PLXNB3_ENST00000538966.1_Missense_Mutation_p.L737M|PLXNB3_ENST00000538543.1_Silent_p.A183A|PLXNB3_ENST00000538282.1_Missense_Mutation_p.L324M	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	714					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCAGGGCCTGCCTGCCTC	0.632																																					p.L737M		.											.	PLXNB3-130	0			c.C2209A						.						82.0	66.0	72.0					X																	153036423		2202	4298	6500	SO:0001583	missense	5365	exon13			CAGGGCCTGCCTG	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2140C>A	X.37:g.153036423C>A	ENSP00000355378:p.Leu714Met	263	1		333	119	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	c	7.862	0.726202	0.15439	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.68331	5.24;5.2;4.62;-0.32	5.31	2.2	0.27929	.	0.733977	0.12636	N	0.451749	T	0.56441	0.1985	L	0.51422	1.61	0.09310	N	1	B;P;B;B	0.41748	0.011;0.761;0.035;0.011	B;B;B;B	0.35971	0.017;0.215;0.062;0.028	T	0.40136	-0.9579	10	0.48119	T	0.1	.	9.5141	0.39095	0.1269:0.7078:0.0:0.1654	.	367;396;737;714	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	M	737;714;367;324	ENSP00000442736:L737M;ENSP00000355378:L714M;ENSP00000445569:L367M;ENSP00000441919:L324M	ENSP00000355378:L714M	L	+	1	2	PLXNB3	152689617	0.000000	0.05858	0.831000	0.32960	0.034000	0.12701	0.069000	0.14552	0.117000	0.18138	-1.711000	0.00714	CTG	.		0.632	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
PLXNB3	5365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153042416	153042416	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153042416G>T	ENST00000361971.5	+	29	5022	c.4908G>T	c.(4906-4908)caG>caT	p.Q1636H	PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q1289H|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q1659H|SRPK3_ENST00000489426.1_5'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1636					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGCCCAGAGGTGCCCCT	0.662																																					p.Q1659H		.											.	PLXNB3-130	0			c.G4977T						.						36.0	34.0	34.0					X																	153042416		2190	4292	6482	SO:0001583	missense	5365	exon30			GGCCCAGAGGTGC	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4908G>T	X.37:g.153042416G>T	ENSP00000355378:p.Gln1636His	311	0		330	128	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.856|3.856	-0.030818|-0.030818	0.07543|0.07543	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000455214|ENST00000538966;ENST00000361971;ENST00000538776	.|T;T;T	.|0.12039	.|2.72;2.72;2.72	4.92|4.92	0.777|0.777	0.18538|0.18538	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|1.763170	.|0.02904	.|N	.|0.135858	.|T	.|0.13586	.|0.0329	N|N	0.17764|0.17764	0.52|0.52	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B;B	.|0.17038	.|0.014;0.02;0.005	.|B;B;B	.|0.18263	.|0.021;0.012;0.021	.|T	.|0.32561	.|-0.9902	.|10	.|0.29301	.|T	.|0.29	.|.	17.3085|17.3085	0.87202|0.87202	0.0:0.6738:0.3262:0.0|0.0:0.6738:0.3262:0.0	.|.	.|1289;1659;1636	.|B7Z3H9;F5H773;Q9ULL4	.|.;.;PLXB3_HUMAN	X|H	140|1659;1636;1289	.|ENSP00000442736:Q1659H;ENSP00000355378:Q1636H;ENSP00000445569:Q1289H	.|ENSP00000355378:Q1636H	E|Q	+|+	1|3	0|2	PLXNB3|PLXNB3	152695610|152695610	0.989000|0.989000	0.36119|0.36119	0.033000|0.033000	0.17914|0.17914	0.059000|0.059000	0.15707|0.15707	0.520000|0.520000	0.22878|0.22878	-0.200000|-0.200000	0.10300|0.10300	-0.347000|-0.347000	0.07816|0.07816	GAG|CAG	.		0.662	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
IDH3G	3421	ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153055722	153055722	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153055722C>G	ENST00000217901.5	-	4	357	c.161G>C	c.(160-162)cGg>cCg	p.R54P	IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.R54P|IDH3G_ENST00000370092.3_Missense_Mutation_p.R54P|IDH3G_ENST00000427365.2_5'UTR	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	54					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCGTGTGCCGCCCGCCATA	0.652																																					p.R54P		.											.	IDH3G-90	0			c.G161C						.						60.0	47.0	51.0					X																	153055722		2202	4300	6502	SO:0001583	missense	3421	exon4			GTGTGCCGCCCGC		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.161G>C	X.37:g.153055722C>G	ENSP00000217901:p.Arg54Pro	309	1		311	82	NM_004135	0	0	0	0	0	E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737740	0.69304	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000444450	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.02	5.02	0.67125	Isopropylmalate dehydrogenase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.74023	0.982;0.889	T	0.52525	-0.8564	10	0.19147	T	0.46	.	16.2199	0.82254	0.0:1.0:0.0:0.0	.	54;54	E9PDD5;P51553	.;IDH3G_HUMAN	P	54;54;54;31	ENSP00000359110:R54P;ENSP00000217901:R54P;ENSP00000359111:R54P;ENSP00000401862:R31P	ENSP00000217901:R54P	R	-	2	0	IDH3G	152708916	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	5.670000	0.68088	2.081000	0.62600	0.529000	0.55759	CGG	.		0.652	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27		
L1CAM	3897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153133825	153133825	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153133825G>T	ENST00000370060.1	-	14	1824	c.1635C>A	c.(1633-1635)ccC>ccA	p.P545P	L1CAM_ENST00000361981.3_Silent_p.P540P|L1CAM_ENST00000543994.1_Silent_p.P547P|L1CAM_ENST00000370057.3_Silent_p.P545P|L1CAM_ENST00000370055.1_Silent_p.P540P|L1CAM_ENST00000538883.1_Silent_p.P547P|L1CAM_ENST00000361699.4_Silent_p.P545P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	545	Ig-like C2-type 6.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAAGGAGGGGTCAAAGG	0.597																																					p.P545P		.											.	L1CAM-138	0			c.C1635A						.						139.0	143.0	142.0					X																	153133825		2203	4300	6503	SO:0001819	synonymous_variant	3897	exon13			CAAGGAGGGGTCA	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1635C>A	X.37:g.153133825G>T		270	0		318	123	NM_000425	0	0	0	0	0	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402063	0.25291	.	.	ENSG00000198910	ENST00000455590	T	0.74421	-0.84	5.62	0.343	0.16001	.	0.096985	0.43919	D	0.000509	T	0.65048	0.2654	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53315	-0.8456	6	.	.	.	.	1.9739	0.03412	0.1615:0.13:0.438:0.2705	.	.	.	.	H	3	ENSP00000397792:P3H	.	P	-	2	0	L1CAM	152787019	0.992000	0.36948	0.994000	0.49952	0.993000	0.82548	0.075000	0.14686	-0.071000	0.12886	-0.297000	0.09499	CCT	.		0.597	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	
HCFC1	3054	broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	153220099	153220099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153220099C>A	ENST00000310441.7	-	17	4717	c.3751G>T	c.(3751-3753)Gag>Tag	p.E1251*	HCFC1_ENST00000354233.3_Nonsense_Mutation_p.E1182*|HCFC1_ENST00000369984.4_Nonsense_Mutation_p.E1251*	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1251					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGCGGGGCTCCCCAGCACCC	0.677																																					p.E1251X		.											.	HCFC1-132	0			c.G3751T						.						18.0	20.0	19.0					X																	153220099		2022	4144	6166	SO:0001587	stop_gained	3054	exon17			GGGGCTCCCCAGC		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3751G>T	X.37:g.153220099C>A	ENSP00000309555:p.Glu1251*	42	1		147	59	NM_005334	0	0	0	0	0	Q6P4G5	Nonsense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	c	43	10.013914	0.99318	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	.	.	.	4.46	4.46	0.54185	.	0.761678	0.12152	N	0.494772	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	11.6981	0.51554	0.0:0.8241:0.1759:0.0	.	.	.	.	X	1251;1251;1182	.	ENSP00000309555:E1251X	E	-	1	0	HCFC1	152873293	0.240000	0.23847	0.591000	0.28745	0.142000	0.21351	1.566000	0.36396	1.815000	0.52974	0.525000	0.51046	GAG	.		0.677	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
HCFC1	3054	ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153222835	153222835	+	Silent	SNP	G	G	C	rs2071134	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153222835G>C	ENST00000310441.7	-	13	3249	c.2283C>G	c.(2281-2283)acC>acG	p.T761T	HCFC1_ENST00000354233.3_Silent_p.T692T|HCFC1_ENST00000369984.4_Silent_p.T761T|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	761	Interaction with ZBTB17.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCGGGCTTGGTGGTACTGG	0.642													G|||	1450	0.384106	0.0461	0.3545	3775	,	,		13235	0.5784		0.1223	False		,,,				2504	0.4468				p.T761T		.											.	HCFC1-132	0			c.C2283G						.	G		249,3481		9,186,45,1385,525	116.0	126.0	122.0		2283	4.1	1.0	X	dbSNP_96	122	947,5648		43,588,273,1757,1546	no	coding-synonymous	HCFC1	NM_005334.2		52,774,318,3142,2071	CC,CG,C,GG,G		14.3594,6.6756,11.5835		761/2036	153222835	1196,9129	2150	4207	6357	SO:0001819	synonymous_variant	3054	exon13			GGGCTTGGTGGTA		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2283C>G	X.37:g.153222835G>C		233	0		188	57	NM_005334	0	0	0	0	0	Q6P4G5	Silent	SNP	ENST00000310441.7	37	CCDS44020.1																																																																																			G|0.666;C|0.334		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
SLC10A3	8273	ucsc.edu;bcgsc.ca	37	X	153716005	153716005	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153716005G>T	ENST00000393587.4	-	3	1538	c.1275C>A	c.(1273-1275)aaC>aaA	p.N425K	UBL4A_ENST00000369660.4_5'Flank|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.N396K|SLC10A3_ENST00000263512.4_Missense_Mutation_p.N425K|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.N480K	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	425					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	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)					CCAGCAGGCTGTTCTGCACCC	0.652																																					p.N425K		.											.	SLC10A3-132	0			c.C1275A						.						59.0	48.0	52.0					X																	153716005		2203	4300	6503	SO:0001583	missense	8273	exon3			CAGGCTGTTCTGC	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.1275C>A	X.37:g.153716005G>T	ENSP00000377212:p.Asn425Lys	422	2		445	174	NM_001142392	0	0	0	0	0	Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556144	0.86231	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587	T;T;T;T	0.26660	2.03;1.72;1.73;1.73	5.4	5.4	0.78164	.	0.000000	0.85682	U	0.000000	T	0.62925	0.2468	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74393	-0.3680	10	0.87932	D	0	-21.9698	16.8689	0.86036	0.0:0.0:1.0:0.0	.	396;425	Q9BSL2;P09131	.;P3_HUMAN	K	396;480;425;425	ENSP00000358663:N396K;ENSP00000377211:N480K;ENSP00000263512:N425K;ENSP00000377212:N425K	ENSP00000263512:N425K	N	-	3	2	SLC10A3	153369199	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.697000	0.74603	2.244000	0.73946	0.513000	0.50165	AAC	.		0.652	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848	
G6PD	2539	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153762677	153762677	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153762677C>G	ENST00000393564.2	-	6	632	c.520G>C	c.(520-522)Ggg>Cgg	p.G174R	G6PD_ENST00000369620.2_Missense_Mutation_p.G174R|G6PD_ENST00000393562.2_Missense_Mutation_p.G204R|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	174					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	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)					AGGTCCCTCCCGAAGGGCTTC	0.617																																					p.G204R		.											.	G6PD-135	0			c.G610C						.						81.0	68.0	73.0					X																	153762677		2203	4300	6503	SO:0001583	missense	2539	exon6			CCCTCCCGAAGGG	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.520G>C	X.37:g.153762677C>G	ENSP00000377194:p.Gly174Arg	161	1		164	72	NM_000402	0	0	0	0	0	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035019	0.75617	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15;-7.15	5.65	4.79	0.61399	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.99910	0.9957	H	0.99851	4.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96312	0.9229	10	0.87932	D	0	.	11.3761	0.49728	0.0:0.9102:0.0:0.0898	.	174;204	P11413;P11413-3	G6PD_HUMAN;.	R	204;174;174;174;175;175;174	ENSP00000377192:G204R;ENSP00000377194:G174R;ENSP00000358633:G174R;ENSP00000395599:G175R;ENSP00000400648:G175R;ENSP00000394690:G174R	ENSP00000291567:G174R	G	-	1	0	G6PD	153415871	1.000000	0.71417	0.956000	0.39512	0.683000	0.39861	7.518000	0.81795	1.146000	0.42352	-0.322000	0.08575	GGG	.		0.617	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402	
GAB3	139716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153927602	153927602	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:153927602G>T	ENST00000369575.3	-	6	1340	c.1309C>A	c.(1309-1311)Cca>Aca	p.P437T	GAB3_ENST00000424127.2_Missense_Mutation_p.P438T|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	437					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTATTCACTGGGGGAGGTTCC	0.537																																					p.P438T		.											.	GAB3-227	0			c.C1312A						.						141.0	135.0	137.0					X																	153927602		2203	4300	6503	SO:0001583	missense	139716	exon6			TCACTGGGGGAGG	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1309C>A	X.37:g.153927602G>T	ENSP00000358588:p.Pro437Thr	129	0		172	65	NM_001081573	0	0	0	0	0	A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961546	0.74016	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.39787	1.06;1.06;1.06	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	M	0.87758	2.905	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.75271	-0.3376	10	0.72032	D	0.01	-18.9742	16.3807	0.83460	0.0:0.0:1.0:0.0	.	438;438;437	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	T	437;438;438	ENSP00000358588:P437T;ENSP00000358581:P438T;ENSP00000399588:P438T	ENSP00000358581:P438T	P	-	1	0	GAB3	153580796	1.000000	0.71417	0.697000	0.30258	0.935000	0.57460	6.611000	0.74183	2.474000	0.83562	0.529000	0.55759	CCA	.		0.537	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573	
DKC1	1736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	154001499	154001499	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:154001499C>A	ENST00000369550.5	+	11	1340	c.1130C>A	c.(1129-1131)cCt>cAt	p.P377H	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	377					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACACTTACCCTCGGAAGTGG	0.413									Congenital Dyskeratosis																												p.P377H		.											.	DKC1-227	0			c.C1130A						.						90.0	76.0	81.0					X																	154001499		2203	4300	6503	SO:0001583	missense	1736	exon11	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	CTTACCCTCGGAA	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1130C>A	X.37:g.154001499C>A	ENSP00000358563:p.Pro377His	454	0		588	237	NM_001363	0	0	0	0	0	F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601127	0.87055	.	.	ENSG00000130826	ENST00000369550	D	0.96427	-4.01	5.5	5.5	0.81552	PUA-like domain (1);	0.049756	0.85682	D	0.000000	D	0.98327	0.9445	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	D	0.99486	1.0949	10	0.87932	D	0	-15.7838	16.9591	0.86267	0.0:1.0:0.0:0.0	.	377;377	A8MUT5;O60832	.;DKC1_HUMAN	H	377	ENSP00000358563:P377H	ENSP00000358563:P377H	P	+	2	0	DKC1	153654693	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.405000	0.80007	2.317000	0.78254	0.600000	0.82982	CCT	.		0.413	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363	
F8	2157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	154157538	154157538	+	Silent	SNP	G	G	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:154157538G>C	ENST00000360256.4	-	14	4727	c.4527C>G	c.(4525-4527)ggC>ggG	p.G1509G		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1509	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATTCAACTTTGCCAGATGTTT	0.473																																					p.G1509G		.											.	F8-182	0			c.C4527G						.						87.0	82.0	84.0					X																	154157538		2203	4300	6503	SO:0001819	synonymous_variant	2157	exon14			AACTTTGCCAGAT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4527C>G	X.37:g.154157538G>C		70	0		103	35	NM_000132	0	0	0	0	0	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																			.		0.473	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	154158316	154158316	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:154158316C>A	ENST00000360256.4	-	14	3949	c.3749G>T	c.(3748-3750)aGc>aTc	p.S1250I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1250	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGCCTAGTGCTCAGTAAGAA	0.353																																					p.S1250I		.											.	F8-182	0			c.G3749T						.						71.0	61.0	64.0					X																	154158316		2203	4300	6503	SO:0001583	missense	2157	exon14			CTAGTGCTCAGTA	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3749G>T	X.37:g.154158316C>A	ENSP00000353393:p.Ser1250Ile	52	0		64	26	NM_000132	0	0	0	0	0	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	10.68	1.418492	0.25552	.	.	ENSG00000185010	ENST00000360256	D	0.99519	-6.07	5.72	3.9	0.45041	.	0.528580	0.22190	N	0.063396	D	0.98169	0.9395	M	0.67953	2.075	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	D	0.96408	0.9302	10	0.52906	T	0.07	-1.3352	6.7663	0.23568	0.1737:0.7321:0.0:0.0941	.	1250	P00451	FA8_HUMAN	I	1250	ENSP00000353393:S1250I	ENSP00000353393:S1250I	S	-	2	0	F8	153811510	0.370000	0.25047	0.026000	0.17262	0.924000	0.55760	0.191000	0.17076	1.152000	0.42452	0.597000	0.82753	AGC	.		0.353	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	154176151	154176151	+	Silent	SNP	C	C	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:154176151C>T	ENST00000360256.4	-	13	2135	c.1935G>A	c.(1933-1935)caG>caA	p.Q645Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	645	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAACTGACAACTGCAAACTAT	0.383																																					p.Q645Q		.											.	F8-182	0			c.G1935A						.						135.0	106.0	116.0					X																	154176151		2203	4300	6503	SO:0001819	synonymous_variant	2157	exon13			TGACAACTGCAAA	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1935G>A	X.37:g.154176151C>T		133	2		182	75	NM_000132	0	0	0	0	0	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																			.		0.383	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
MTCP1	4515	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	154294183	154294183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:154294183C>A	ENST00000369476.3	-	2	682	c.103G>T	c.(103-105)Gag>Tag	p.E35*	CMC4_ENST00000369479.1_5'Flank|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000482244.1_Intron|MTCP1_ENST00000362018.2_Nonsense_Mutation_p.E35*	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	35					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGTTACCTCTTCCACGACG	0.463			T	TRA@	T cell prolymphocytic leukemia																																p.E35X		.		Dom	yes		X	Xq28	4515	mature T-cell proliferation 1		L	.	MTCP1-658	0			c.G103T						.						74.0	72.0	73.0					X																	154294183		1886	4103	5989	SO:0001587	stop_gained	4515	exon2			TTACCTCTTCCAC		CCDS44027.1	Xq28	2011-10-10			ENSG00000214827	ENSG00000214827			7423	protein-coding gene	gene with protein product		300116				8361760, 8634440, 9691281	Standard	NM_001018025		Approved	P13MTCP1, p8MTCP1	uc004fmz.2	P56278	OTTHUMG00000156241	ENST00000369476.3:c.103G>T	X.37:g.154294183C>A	ENSP00000358488:p.Glu35*	70	3		81	28	NM_001018025	0	0	0	0	0	Q5HYP2	Nonsense_Mutation	SNP	ENST00000369476.3	37	CCDS44027.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433732	0.96150	.	.	ENSG00000214827	ENST00000369476;ENST00000362018	.	.	.	5.66	4.79	0.61399	.	0.307855	0.27981	N	0.017078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-9.7047	12.9219	0.58237	0.0:0.8413:0.1587:0.0	.	.	.	.	X	35	.	ENSP00000355058:E35X	E	-	1	0	MTCP1	153947377	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.213000	0.51153	1.260000	0.44134	0.600000	0.82982	GAG	.		0.463	MTCP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058776.1	NM_001018025	
IL9R	3581	ucsc.edu;bcgsc.ca	37	X	155235035	155235035	+	Silent	SNP	G	G	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:155235035G>T	ENST00000244174.5	+	6	851	c.672G>T	c.(670-672)ctG>ctT	p.L224L	IL9R_ENST00000540897.1_Silent_p.L249L|IL9R_ENST00000424344.3_Silent_p.L203L|IL9R_ENST00000369423.2_Silent_p.L259L	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	224	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGCCAGGCTGCGTGTCCAGA	0.592																																					p.L259L		.											.	IL9R-40	0			c.G777T						.						128.0	114.0	119.0					X																	155235035		2203	4296	6499	SO:0001819	synonymous_variant	3581	exon7			CAGGCTGCGTGTC	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.672G>T	X.37:g.155235035G>T		550	4		684	245	NM_176786	0	0	0	0	0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Silent	SNP	ENST00000244174.5	37	CCDS14771.4																																																																																			.		0.592	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186	
IL9R	3581	bcgsc.ca	37	X	155239892	155239892	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:155239892C>A	ENST00000244174.5	+	9	1563	c.1384C>A	c.(1384-1386)Cag>Aag	p.Q462K	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.Q441K|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	462					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGAAACACACAGAGCTCTGG	0.617																																					p.Q462K		.											.	IL9R-40	0			c.C1384A						.						5.0	7.0	6.0					X																	155239892		1736	3630	5366	SO:0001583	missense	3581	exon9			AACACACAGAGCT	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1384C>A	X.37:g.155239892C>A	ENSP00000244174:p.Gln462Lys	336	1		332	65	NM_002186	0	0	0	0	0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	0.662	-0.805317	0.02819	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10288	2.89;2.89	1.44	1.44	0.22558	.	3.823050	0.00857	N	0.001881	T	0.04363	0.0120	.	.	.	0.09310	N	1	B	0.29552	0.248	B	0.26202	0.067	T	0.33420	-0.9869	9	0.02654	T	1	-5.0911	5.8372	0.18613	0.0:1.0:0.0:0.0	.	462	Q01113	IL9R_HUMAN	K	462;441	ENSP00000244174:Q462K;ENSP00000388918:Q441K	ENSP00000244174:Q462K	Q	+	1	0	IL9R	154893086	0.005000	0.15991	0.006000	0.13384	0.005000	0.04900	0.816000	0.27267	1.015000	0.39444	0.287000	0.19450	CAG	.		0.617	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186	
PLCH2	9651	hgsc.bcm.edu	37	1	2430086	2430087	+	Splice_Site	INS	-	-	GTGGGGGCC	rs142848828		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:2430086_2430087insGTGGGGGCC	ENST00000419816.2	+	17	2623	c.2349_2349insGTGGGGGCC	c.(2350-2352)atc>atGTGGGGGCCc	p.784_784I>MWGP	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Splice_Site_p.784_784I>MWGP|PLCH2_ENST00000449969.1_Splice_Site_p.757_757I>MWGP|PLCH2_ENST00000378488.3_Splice_Site_p.748_748I>MWGP			O75038	PLCH2_HUMAN	phospholipase C, eta 2	784	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E783_I784insVGA(1)|p.E630_I631insVGA(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCGTGGGGAGGTGGGGGCCAG	0.703																																					p.E783delinsEVGA		.											.	PLCH2-229	2	Insertion - In frame(2)	central_nervous_system(2)	c.2349_2350insGTGGGGGCC						.			34,3260		6,22,1619						4.8	1.0		dbSNP_134	6	360,6988		44,272,3358	no	coding-near-splice	PLCH2	NM_014638.2		50,294,4977	A1A1,A1R,RR		4.8993,1.0322,3.7023				394,10248				SO:0001630	splice_region_variant	9651	exon17			TGGGGAGGTGGGG	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.2349+1->GTGGGGGCC	1.37:g.2430087_2430095dupGTGGGGGCC		21	0		36	14	NM_014638	0	0	0	0	0	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	In_Frame_Ins	INS	ENST00000419816.2	37																																																																																				.		0.703	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638	In_Frame_Ins
MPL	4352	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	43818247	43818248	+	Frame_Shift_Ins	INS	-	-	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:43818247_43818248insC	ENST00000372470.3	+	12	1754_1755	c.1712_1713insC	c.(1711-1716)ctccccfs	p.LP571fs	RP1-92O14.3_ENST00000424948.1_RNA	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	571					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CTTGAAATCCTCCCCAAGTCCT	0.569			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														p.L571fs	NSCLC(52;534 1204 10016 41452 44427)	.	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	L	.	MPL-9885	0			c.1712_1713insC						.																																			SO:0001589	frameshift_variant	4352	exon12			AAATCCTCCCCAA	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1716dupC	1.37:g.43818251_43818251dupC	ENSP00000361548:p.Leu571fs	176	0		215	47	NM_005373	0	0	0	0	0	Q5JUZ0	Frame_Shift_Ins	INS	ENST00000372470.3	37	CCDS483.1																																																																																			.		0.569	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	
BRDT	676	hgsc.bcm.edu;bcgsc.ca	37	1	92447227	92447228	+	In_Frame_Ins	INS	-	-	AGC	rs375773077		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:92447227_92447228insAGC	ENST00000362005.3	+	13	2335_2336	c.1917_1918insAGC	c.(1918-1920)agc>AGCagc	p.640_640S>SS	BRDT_ENST00000370389.2_In_Frame_Ins_p.567_567S>SS|BRDT_ENST00000399546.2_In_Frame_Ins_p.640_640S>SS|BRDT_ENST00000402388.1_In_Frame_Ins_p.640_640S>SS|BRDT_ENST00000394530.3_In_Frame_Ins_p.594_594S>SS	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	640	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GACTGAGTGAGagcagcagcag	0.426																																					p.E643delinsES		.											.	BRDT-374	0			c.1929_1930insAGC						.		,,,,,,	21,4245		0,21,2112					,,,,,,	-11.2	0.0			79	2,8250		0,2,4124	no	coding,coding,coding,coding,coding,coding,coding	BRDT	NM_207189.2,NM_001726.3,NM_001242810.1,NM_001242808.1,NM_001242807.1,NM_001242806.1,NM_001242805.1	,,,,,,	0,23,6236	A1A1,A1R,RR		0.0242,0.4923,0.1837	,,,,,,	,,,,,,		23,12495				SO:0001652	inframe_insertion	676	exon12			GAGTGAGAGCAGC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1936_1938dupAGC	1.37:g.92447234_92447236dupAGC	ENSP00000354568:p.Ser648dup	281	0		348	132	NM_001242806	0	0	0	0	0	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Ins	INS	ENST00000362005.3	37	CCDS735.1																																																																																			.		0.426	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
CELSR2	1952	hgsc.bcm.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs377757908|rs59201433|rs144034706	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	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	2	2		23	22	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	
OR10X1	128367	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	158549352	158549353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:158549352_158549353insA	ENST00000368150.1	-	1	336_337	c.337_338insT	c.(337-339)tgtfs	p.C113fs		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGTAAGCTACAACCTGTGACT	0.485																																					p.C113fs		.											.	OR10X1-69	0			c.338_339insT						.																																			SO:0001589	frameshift_variant	128367	exon1			AAGCTACAACCTG	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.338dupT	1.37:g.158549354_158549354dupA	ENSP00000357132:p.Cys113fs	370	0		563	61	NM_001004477	0	0	0	0	0	Q6IFR8	Frame_Shift_Ins	INS	ENST00000368150.1	37	CCDS30900.1																																																																																			.		0.485	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477	
PAX2	5076	hgsc.bcm.edu;bcgsc.ca	37	10	102509533	102509534	+	Frame_Shift_Ins	INS	-	-	A	rs371041678		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:102509533_102509534insA	ENST00000428433.1	+	2	624_625	c.74_75insA	c.(73-78)ggggtgfs	p.V26fs	PAX2_ENST00000556085.1_Frame_Shift_Ins_p.V25fs|PAX2_ENST00000370296.2_Frame_Shift_Ins_p.V26fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.V26fs|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.V26fs|PAX2_ENST00000553492.1_Intron	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	26	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAGCTCGGGGGGGTGTTTGTGA	0.658																																					p.G25fs		.											.	PAX2-90	0			c.74_75insA						.																																			SO:0001589	frameshift_variant	5076	exon2			TCGGGGGGGTGTT		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	Exception_encountered	10.37:g.102509533_102509534insA	ENSP00000396259:p.Val26fs	59	0		114	30	NM_003987	0	0	0	0	0	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Ins	INS	ENST00000428433.1	37	CCDS53569.1																																																																																			.		0.658	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
PCGF6	84108	hgsc.bcm.edu	37	10	105110740	105110741	+	In_Frame_Ins	INS	-	-	GGAGGC	rs201702163|rs113359610|rs60968810	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:105110740_105110741insGGAGGC	ENST00000369847.3	-	1	150_151	c.83_84insGCCTCC	c.(82-84)cct>ccGCCTCCt	p.28_28P>PPP	PCGF6_ENST00000337211.4_In_Frame_Ins_p.28_28P>PPP|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	28	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		gcggggagacaggaggcggagg	0.748														2236	0.446486	0.2269	0.4337	5008	,	,		11043	0.4325		0.5149	False		,,,				2504	0.6963				p.P28delinsPPP		.											.	PCGF6-226	0			c.84_85insGCCTCC						.		,	550,2140		138,274,933					,	1.3	0.0		dbSNP_132	6	1951,3319		581,789,1265	no	coding,coding	PCGF6	NM_032154.3,NM_001011663.1	,	719,1063,2198	A1A1,A1R,RR		37.0209,20.4461,31.4196	,	,		2501,5459				SO:0001652	inframe_insertion	84108	exon1			GGAGACAGGAGGC	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.78_83dupGCCTCC	10.37:g.105110741_105110746dupGGAGGC	ENSP00000358862:p.ProPro28dup	0	0		21	15	NM_032154	0	0	0	0	0	A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	In_Frame_Ins	INS	ENST00000369847.3	37	CCDS31275.1																																																																																			-|0.590;GGAGGC|0.410		0.748	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154	
NLRP10	338322	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	7981838	7981839	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:7981838_7981839insT	ENST00000328600.2	-	2	1481_1482	c.1320_1321insA	c.(1318-1323)ggccccfs	p.P441fs		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	441	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAAGCCTGGGGCCATCTAAAT	0.495																																					p.P441fs		.											.	NLRP10-209	0			c.1321_1322insA						.																																			SO:0001589	frameshift_variant	338322	exon2			GCCTGGGGCCATC	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1320_1321insA	11.37:g.7981838_7981839insT	ENSP00000327763:p.Pro441fs	66	0		54	30	NM_176821	0	0	0	0	0	Q2M3C4|Q6JGT0	Frame_Shift_Ins	INS	ENST00000328600.2	37	CCDS7784.1																																																																																			.		0.495	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821	
FAT3	120114	hgsc.bcm.edu;bcgsc.ca	37	11	92616454	92616455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:92616454_92616455insG	ENST00000298047.6	+	23	12849_12850	c.12832_12833insG	c.(12832-12834)cggfs	p.R4278fs	FAT3_ENST00000525166.1_Frame_Shift_Ins_p.R4128fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.R4278fs|FAT3_ENST00000533797.1_Frame_Shift_Ins_p.R613fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4278					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)	p.R4278W(1)|p.R853W(1)		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)				GACAGCCCGGCGGGGCGTGGTC	0.663										TCGA Ovarian(4;0.039)																											p.R4278fs		.											.	FAT3-73	2	Substitution - Missense(2)	prostate(2)	c.12832_12833insG						.																																			SO:0001589	frameshift_variant	120114	exon23			GCCCGGCGGGGCG	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.12836dupG	11.37:g.92616458_92616458dupG	ENSP00000298047:p.Arg4278fs	59	0		82	35	NM_001008781	0	0	0	0	0	B5MDB0|Q96AU6	Frame_Shift_Ins	INS	ENST00000298047.6	37																																																																																				.		0.663	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
MED13L	23389	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	116444164	116444165	+	Frame_Shift_Ins	INS	-	-	C	rs376297513		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:116444164_116444165insC	ENST00000281928.3	-	12	2496_2497	c.2290_2291insG	c.(2290-2292)ccgfs	p.P764fs		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	764						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATCAGGCACCGGCGTGGAATGA	0.406																																					p.P764fs		.											.	MED13L-232	0			c.2291_2292insG						.																																			SO:0001589	frameshift_variant	23389	exon12			GGCACCGGCGTGG	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2290_2291insG	12.37:g.116444164_116444165insC	ENSP00000281928:p.Pro764fs	157	0		127	77	NM_015335	0	0	0	0	0	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Frame_Shift_Ins	INS	ENST00000281928.3	37	CCDS9177.1																																																																																			.		0.406	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
NCOR2	9612	broad.mit.edu	37	12	124824721	124824722	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs61519723|rs112797765|rs143952466	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:124824721_124824722insGCCGCTGCT	ENST00000405201.1	-	37	5517_5518	c.5517_5518insAGCAGCGGC	c.(5515-5520)ggcggg>ggcAGCAGCGGCggg	p.1838_1839insGSS	NCOR2_ENST00000356219.3_In_Frame_Ins_p.1845_1846insGSS|NCOR2_ENST00000404121.2_In_Frame_Ins_p.1399_1400insGSS|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1829_1830insGSS|NCOR2_ENST00000404621.1_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000429285.2_In_Frame_Ins_p.1828_1829insGSS			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1849					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cccccacccccgccgctgctgc	0.713														4762	0.950879	0.8979	0.9496	5008	,	,		14227	0.9633		0.9672	False		,,,				2504	0.9939				p.G1840delinsSSGG		.											.	NCOR2-229	0			c.5518_5519insAGCAGCGGC						.																																			SO:0001652	inframe_insertion	9612	exon39			CACCCCCGCCGCT	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5509_5517dupAGCAGCGGC	12.37:g.124824722_124824730dupGCCGCTGCT	ENSP00000384018:p.Gly1836_Ser1838dup	4	0		57	31	NM_006312	0	0	0	0	0	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	ENST00000405201.1	37	CCDS41858.2																																																																																			.		0.713	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
CRAMP1L	57585	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	1706047	1706048	+	Frame_Shift_Ins	INS	-	-	C			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:1706047_1706048insC	ENST00000397412.3	+	10	1388_1389	c.1289_1290insC	c.(1288-1293)ggccggfs	p.R431fs	LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Frame_Shift_Ins_p.R428fs|CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000293925.5_Frame_Shift_Ins_p.R431fs			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	431						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CAGGAGGGCGGCCGGTGCAAGC	0.678																																					p.G430fs		.											.	.	0			c.1289_1290insC						.																																			SO:0001589	frameshift_variant	57585	exon9			AGGGCGGCCGGTG	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1291dupC	16.37:g.1706049_1706049dupC	ENSP00000380559:p.Arg431fs	55	0		141	59	NM_020825	0	0	0	0	0	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Frame_Shift_Ins	INS	ENST00000397412.3	37	CCDS10440.2																																																																																			.		0.678	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4		
KRTAP9-1	728318	hgsc.bcm.edu	37	17	39346616	39346617	+	In_Frame_Ins	INS	-	-	AGCCTAGCTGTGGGTCCAGCTGCTGCC			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:39346616_39346617insAGCCTAGCTGTGGGTCCAGCTGCTGCC	ENST00000398470.1	+	1	478_479	c.478_479insAGCCTAGCTGTGGGTCCAGCTGCTGCC	c.(478-480)cag>cAGCCTAGCTGTGGGTCCAGCTGCTGCCag	p.160_160Q>QPSCGSSCCQ	KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_In_Frame_Ins_p.77_77Q>QPSCGSSCCQ	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	160	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						CAGCTGCTGCCAGCCTTGCTGC	0.599																																					p.Q160delinsQPSCGSSCCQ		.											.	.	0			c.478_479insAGCCTAGCTGTGGGTCCAGCTGCTGCC						.																																			SO:0001652	inframe_insertion	728318	exon1			TGCTGCCAGCCTT	AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	Exception_encountered	17.37:g.39346616_39346617insAGCCTAGCTGTGGGTCCAGCTGCTGCC	Exception_encountered	93	0		186	0	NM_001190460	0	0	0	0	0		In_Frame_Ins	INS	ENST00000398470.1	37	CCDS56029.1																																																																																			.		0.599	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257781.1		
EFTUD2	9343	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	42930702	42930703	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:42930702_42930703insTC	ENST00000426333.2	-	25	2819_2820	c.2522_2523insGA	c.(2521-2523)gatfs	p.D841fs	EFTUD2_ENST00000402521.3_Frame_Shift_Ins_p.D806fs|EFTUD2_ENST00000591382.1_Frame_Shift_Ins_p.D841fs|EFTUD2_ENST00000592576.1_Frame_Shift_Ins_p.D831fs	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	841					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CAGAGACGCAATCTGCAGGGGC	0.579																																					p.D841fs	Ovarian(10;65 485 10258 29980 30707)	.											.	EFTUD2-91	0			c.2523_2524insGA						.																																			SO:0001589	frameshift_variant	9343	exon25			GACGCAATCTGCA	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2521_2522dupGA	17.37:g.42930703_42930704dupTC	ENSP00000392094:p.Asp841fs	117	0		109	43	NM_004247	0	0	0	0	0	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Frame_Shift_Ins	INS	ENST00000426333.2	37	CCDS11489.1																																																																																			.		0.579	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247	
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs374776064|rs587611810|rs71199613	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	49	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688														1042	0.208067	0.1188	0.2522	5008	,	,		15055	0.1379		0.3231	False		,,,				2504	0.2515				p.P49delinsPSCCAP		.											.	KRTAP10-6-90	0			c.147_148insCAGCTGCTGCGCCCC						.																																			SO:0001652	inframe_insertion	386674	exon1			GGGGGCCGGGGCG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.146_147insCAGCTGCTGCGCCCC	21.37:g.46012219_46012220insGGGGCGCAGCAGCTG	Exception_encountered	25	0		105	16	NM_198688	0	0	0	0	0		In_Frame_Ins	INS	ENST00000400368.1	37	CCDS42959.1																																																																																			.		0.688	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688	
NEFH	4744	broad.mit.edu	37	22	29885622	29885623	+	In_Frame_Ins	INS	-	-	AGGAAG	rs267607534|rs267607535		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr22:29885622_29885623insAGGAAG	ENST00000310624.6	+	4	2026_2027	c.1993_1994insAGGAAG	c.(1993-1995)aag>aAGGAAGag	p.665_666insEE		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	671	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCCCCTGAGAAGGCCAAGTCC	0.579																																					p.K665delinsKEE		.											.	NEFH-90	0			c.1993_1994insAGGAAG						.																																			SO:0001652	inframe_insertion	4744	exon4			CCTGAGAAGGCCA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	Exception_encountered	22.37:g.29885622_29885623insAGGAAG	ENSP00000311997:p.Lys665_Ala666insGluGlu	367	0		391	10	NM_021076	0	0	0	0	0	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																			.		0.579	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
SHOX2	6474	hgsc.bcm.edu	37	3	157823581	157823582	+	In_Frame_Ins	INS	-	-	CACCTCCTC			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:157823581_157823582insCACCTCCTC	ENST00000425436.3	-	1	257_258	c.232_233insGAGGAGGTG	c.(232-234)gta>gGAGGAGGTGta	p.77_78insGGG	SHOX2_ENST00000490689.2_5'Flank|SHOX2_ENST00000483851.2_In_Frame_Ins_p.77_78insGGG|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_In_Frame_Ins_p.77_78insGGG|SHOX2_ENST00000441443.2_5'UTR|RSRC1_ENST00000480820.1_5'Flank	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	77	Poly-Gly.				cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			tcctcctcctacacctcctccg	0.787																																					p.V78delinsGGGV		.											.	SHOX2-90	0			c.233_234insGAGGAGGTG						.		,,	21,2419		6,9,1205					,,	-1.0	0.6			7	162,5396		41,80,2658	no	coding,coding,coding	SHOX2	NM_006884.3,NM_003030.4,NM_001163678.1	,,	47,89,3863	A1A1,A1R,RR		2.9147,0.8607,2.2881	,,	,,		183,7815				SO:0001652	inframe_insertion	6474	exon1			CCTCCTACACCTC	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.224_232dupGAGGAGGTG	3.37:g.157823582_157823590dupCACCTCCTC	ENSP00000398704:p.Gly80_Gly81dup	18	0		84	44	NM_001163678	0	0	0	0	0	O60465|O60467|O60903	In_Frame_Ins	INS	ENST00000425436.3	37	CCDS43164.1																																																																																			.		0.787	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2		
WDFY3	23001	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	85722990	85722991	+	Frame_Shift_Ins	INS	-	-	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:85722990_85722991insA	ENST00000295888.4	-	17	3041_3042	c.2634_2635insT	c.(2632-2637)gtggcafs	p.A879fs	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000512267.1_5'UTR|WDFY3_ENST00000322366.6_Frame_Shift_Ins_p.A879fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	879					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAAATATTTGCCACGGCAAGTT	0.436																																					p.A879fs		.											.	WDFY3-93	0			c.2635_2636insT						.																																			SO:0001589	frameshift_variant	23001	exon17			TATTTGCCACGGC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2634_2635insT	4.37:g.85722990_85722991insA	ENSP00000295888:p.Ala879fs	128	0		114	26	NM_014991	0	0	0	0	0	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Ins	INS	ENST00000295888.4	37	CCDS3609.1																																																																																			.		0.436	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
FYB	2533	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	39202214	39202215	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:39202214_39202215insT	ENST00000351578.6	-	2	1038_1039	c.848_849insA	c.(847-849)aagfs	p.K283fs	FYB_ENST00000512982.1_Frame_Shift_Ins_p.K283fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.K293fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.K283fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.K283fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	283					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCCTATCTTCCTTTTTTTCTTC	0.5																																					p.K293fs		.											.	FYB-24	0			c.879_880insA						.																																			SO:0001589	frameshift_variant	2533	exon2			ATCTTCCTTTTTT	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.849dupA	5.37:g.39202221_39202221dupT	ENSP00000316460:p.Lys283fs	58	0		67	20	NM_001243093	0	0	0	0	0	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	CCDS47200.1																																																																																			.		0.500	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
TNPO1	3842	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	72199544	72199545	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:72199544_72199545insT	ENST00000337273.5	+	23	2949_2950	c.2523_2524insT	c.(2524-2526)tttfs	p.F842fs	TNPO1_ENST00000454282.1_Frame_Shift_Ins_p.F792fs|TNPO1_ENST00000506351.2_Frame_Shift_Ins_p.F834fs|TNPO1_ENST00000523768.1_Frame_Shift_Ins_p.F792fs	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	842					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.C836fs*45(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AGGATTTTATATTTTTTTGTGA	0.317																																					p.I841fs		.											.	TNPO1-228	1	Deletion - Frameshift(1)	large_intestine(1)	c.2523_2524insT						.																																			SO:0001589	frameshift_variant	3842	exon23			TTTTATATTTTTT	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2530dupT	5.37:g.72199551_72199551dupT	ENSP00000336712:p.Phe842fs	79	0		46	24	NM_002270	0	0	0	0	0	B4DVC6|Q92957|Q92975	Frame_Shift_Ins	INS	ENST00000337273.5	37	CCDS43329.1																																																																																			.		0.317	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	
C6orf136	221545	hgsc.bcm.edu	37	6	30615190	30615191	+	Intron	INS	-	-	GCG			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:30615190_30615191insGCG	ENST00000376473.5	+	1	231				C6orf136_ENST00000293604.6_In_Frame_Ins_p.61_62PP>PRP|C6orf136_ENST00000528347.2_5'Flank|C6orf136_ENST00000493705.1_Intron|C6orf136_ENST00000376471.4_Intron|AL662800.2_ENST00000583820.1_RNA	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CAGAGACACCCGCCGCCCCTTC	0.748																																					p.P61delinsPR		.											.	C6orf136-90	0			c.182_183insGCG						.																																			SO:0001627	intron_variant	221545	exon1			GACACCCGCCGCC	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.72+110->GCG	6.37:g.30615190_30615191insGCG		4	0		41	16	NM_001161376	0	0	0	0	0	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	In_Frame_Ins	INS	ENST00000376473.5	37	CCDS43443.1																																																																																			.		0.748	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029	
GPR111	222611	broad.mit.edu;bcgsc.ca	37	6	47649793	47649794	+	Frame_Shift_Ins	INS	-	-	A			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:47649793_47649794insA	ENST00000296862.1	+	6	1498_1499	c.1498_1499insA	c.(1498-1500)gtgfs	p.V500fs	GPR111_ENST00000398742.2_Frame_Shift_Ins_p.V432fs|GPR111_ENST00000507065.1_Frame_Shift_Ins_p.V432fs			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	500					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GATGGCAGATGTGTGGTTCATT	0.436																																					p.V432fs		.											.	GPR111-91	0			c.1294_1295insA						.																																			SO:0001589	frameshift_variant	222611	exon7			GCAGATGTGTGGT	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	Exception_encountered	6.37:g.47649793_47649794insA	ENSP00000296862:p.Val500fs	267	0		281	35	NM_153839	0	0	0	0	0	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Frame_Shift_Ins	INS	ENST00000296862.1	37																																																																																				.		0.436	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839	
PODXL	5420	hgsc.bcm.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659|rs547816245|rs532078953|rs79759078|rs571821675	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:131241029_131241030insGGCGAC	ENST00000378555.3	-	1	336_337	c.89_90insGTCGCC	c.(88-90)ccc>ccGTCGCCc	p.30_30P>PSP	PODXL_ENST00000541194.1_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000322985.9_In_Frame_Ins_p.30_30P>PSP			O00592	PODXL_HUMAN	podocalyxin-like	30					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752																																					p.P30delinsPSP		.											.	PODXL-136	2	Deletion - In frame(2)	prostate(2)	c.90_91insGTCGCC						.																																			SO:0001652	inframe_insertion	5420	exon1			CTGGGAGGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89dupGTCGCC	7.37:g.131241030_131241035dupGGCGAC	ENSP00000367817:p.SerPro30dup	0	0		30	0	NM_005397	0	0	0	0	0	A6NHX8|Q52LZ7|Q53ER6	In_Frame_Ins	INS	ENST00000378555.3	37	CCDS34755.1																																																																																			.		0.752	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
PTPRF	5792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	44063549	44063550	+	Missense_Mutation	DNP	GG	GG	AT	rs376955084		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:44063549_44063550GG>AT	ENST00000359947.4	+	12	2284_2285	c.1944_1945GG>AT	c.(1942-1947)gcGGtg>gcATtg	p.V649L	PTPRF_ENST00000372414.3_Missense_Mutation_p.V649L|PTPRF_ENST00000438120.1_Missense_Mutation_p.V649L|PTPRF_ENST00000372413.3_Missense_Mutation_p.V649L|PTPRF_ENST00000422171.2_Intron	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	649	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTACGAGGCGGTGGACGGCGA	0.678																																					p.V649L		.											.	PTPRF-232	0			c.G1945T						.																																			SO:0001583	missense	5792	exon12			GAGGCGGTGGACG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	Exception_encountered	1.37:g.44063549_44063550delinsAT	ENSP00000353030:p.Val649Leu	49	0		280	0	NM_002840	0	0	0	0	0	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	DNP	ENST00000359947.4	37	CCDS489.2																																																																																			.		0.678	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
RGSL1	353299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	182499425	182499426	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:182499425_182499426CA>AT	ENST00000294854.8	+	12	2192_2193	c.2172_2173CA>AT	c.(2170-2175)tcCAtg>tcATtg	p.M725L	RGSL1_ENST00000456971.2_3'UTR|RGSL1_ENST00000542961.1_Missense_Mutation_p.M760L	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	725	RGS.				termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						AAATCGCTTCCATGCGTCATGT	0.396																																					p.M725L	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	.											.	RGSL1-226	0			c.A2173T						.																																			SO:0001583	missense	353299	exon12			GCTTCCATGCGTC	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	Exception_encountered	1.37:g.182499425_182499426delinsAT	ENSP00000457748:p.Met725Leu	95	0		165	0	NM_001137669	0	0	0	0	0	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Missense_Mutation	DNP	ENST00000294854.8	37	CCDS58049.1																																																																																			.		0.396	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	
CACNA1S	779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	201009798	201009799	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:201009798_201009799CA>AG	ENST00000362061.3	-	42	5403_5404	c.5177_5178TG>CT	c.(5176-5178)cTG>cCT	p.L1726P	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1707P|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1726					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L1726Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCTCTGGGTCAGCAGTCCCTT	0.619																																					p.L1726P		.											.	CACNA1S-94	1	Substitution - Missense(1)	kidney(1)	c.T5177C						.																																			SO:0001583	missense	779	exon42			TGGGTCAGCAGTC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5177_5178delinsAG	1.37:g.201009798_201009799delinsAG	ENSP00000355192:p.Leu1726Pro	74	0		140	0	NM_000069	0	0	0	0	0	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	DNP	ENST00000362061.3	37	CCDS1407.1																																																																																			.		0.619	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	237954769	237954770	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr1:237954769_237954770CC>AA	ENST00000366574.2	+	93	13834_13835	c.13517_13518CC>AA	c.(13516-13518)gCC>gAA	p.A4506E	RYR2_ENST00000542537.1_Missense_Mutation_p.A4490E|RYR2_ENST00000360064.6_Missense_Mutation_p.A4512E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4506					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAATGTTAGCCTTATTTGTCG	0.342																																					p.A4512E		.											.	RYR2-158	0			c.C13518A						.																																			SO:0001583	missense	6262	exon93			GTTAGCCTTATTT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	Exception_encountered	1.37:g.237954769_237954770delinsAA	ENSP00000355533:p.Ala4506Glu	99	0		139	8	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	DNP	ENST00000366574.2	37	CCDS55691.1																																																																																			.		0.342	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
CTNNA3	29119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	68139070	68139071	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:68139070_68139071GG>TT	ENST00000433211.2	-	12	1745_1746	c.1571_1572CC>AA	c.(1570-1572)gCC>gAA	p.A524E	CTNNA3_ENST00000373744.4_Missense_Mutation_p.A524E	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGTCTCTTAAGGCTATGATACA	0.421																																					p.A524E		.											.	CTNNA3-234	0			c.C1571A						.																																			SO:0001583	missense	29119	exon12			CTTAAGGCTATGA	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1571_1572delinsTT	10.37:g.68139070_68139071delinsTT	ENSP00000389714:p.Ala524Glu	115	0		123	7	NM_013266	0	0	0	0	0		Missense_Mutation	DNP	ENST00000433211.2	37	CCDS7269.1																																																																																			.		0.421	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
HMX2	3167	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	124907940	124907941	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:124907940_124907941GG>TT	ENST00000339992.3	+	1	303_304	c.46_47GG>TT	c.(46-48)GGc>TTc	p.G16F		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	16					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GGCGGCCGGTGGCGTCTCCAGC	0.644																																					p.G16F		.											.	HMX2-90	0			c.G47T						.																																			SO:0001583	missense	3167	exon1			CCGGTGGCGTCTC		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	Exception_encountered	10.37:g.124907940_124907941delinsTT	ENSP00000341108:p.Gly16Phe	102	0		226	13	NM_005519	0	0	0	0	0	B2RNV5	Missense_Mutation	DNP	ENST00000339992.3	37	CCDS31305.1																																																																																			.		0.644	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580	
CPXM2	119587	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	125639753	125639754	+	Missense_Mutation	DNP	CG	CG	AC	rs202210136		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr10:125639753_125639754CG>AC	ENST00000241305.3	-	2	530_531	c.376_377CG>GT	c.(376-378)CGt>GTt	p.R126V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	126					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACGGGCCACACGGACACTGTGA	0.54																																					p.R126V		.											.	CPXM2-92	0			c.C376G						.																																			SO:0001583	missense	119587	exon2			CCACACGGACACT	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.376_377delinsAC	10.37:g.125639753_125639754delinsAC	ENSP00000241305:p.Arg126Val	91	0		138	0	NM_198148	0	0	0	0	0	B4E3Q2	Missense_Mutation	DNP	ENST00000241305.3	37	CCDS7637.1																																																																																			.		0.540	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
OR4C6	219432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	55433022	55433023	+	Missense_Mutation	DNP	CC	CC	AA	rs139660252		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:55433022_55433023CC>AA	ENST00000314259.3	+	1	409_410	c.380_381CC>AA	c.(379-381)cCC>cAA	p.P127Q		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P127L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATCTGTAAGCCCCTGCACTACA	0.545																																					p.P127Q		.											.	OR4C6-70	1	Substitution - Missense(1)	skin(1)	c.C381A						.																																			SO:0001583	missense	219432	exon1			TAAGCCCCTGCAC	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	Exception_encountered	11.37:g.55433022_55433023delinsAA	ENSP00000324769:p.Pro127Gln	115	0		98	13	NM_001004704	0	0	0	0	0	B2RP11|Q6IFD2	Missense_Mutation	DNP	ENST00000314259.3	37	CCDS31506.1																																																																																			.		0.545	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704	
PDGFD	80310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	103818443	103818444	+	Nonsense_Mutation	DNP	GG	GG	AT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr11:103818443_103818444GG>AT	ENST00000393158.2	-	4	698_699	c.519_520CC>AT	c.(517-522)ttCCaa>ttATaa	p.173_174FQ>L*	PDGFD_ENST00000302251.5_Nonsense_Mutation_p.167_168FQ>L*|RP11-617B3.2_ENST00000527804.1_RNA			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	173					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GCTGCGGGTTGGAAATCTTCCT	0.411																																					p.FQ173L*		.											.	PDGFD-723	0			c.C519A						.																																			SO:0001587	stop_gained	80310	exon4			GGGTTGGAAATCT	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.519_520delinsAT	11.37:g.103818443_103818444delinsAT	ENSP00000376865:p.F173_Q174delinsL*	88	0		43	0	NM_025208	0	0	0	0	0	A8K9T6|Q9BWV5	Nonsense_Mutation	DNP	ENST00000393158.2	37	CCDS41703.1																																																																																			.		0.411	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208	
MYBPC1	4604	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	102055036	102055037	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr12:102055036_102055037CC>AA	ENST00000550270.1	+	18	1953_1954	c.1953_1954CC>AA	c.(1951-1956)atCCta>atAAta	p.L652I	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L652I|MYBPC1_ENST00000549145.1_Missense_Mutation_p.L665I|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L652I|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L553I|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L640I|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L633I|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L677I|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L638I|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L626I|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L652I|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L677I|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L652I|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L639I|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L652I			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	652	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GCTCTCCAATCCTAGGTAACTG	0.48																																					p.L652I		.											.	MYBPC1-94	0			c.C2029A						.																																			SO:0001583	missense	4604	exon20			CCAATCCTAGGTA		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	Exception_encountered	12.37:g.102055036_102055037delinsAA	ENSP00000449702:p.Leu652Ile	87	0		54	10	NM_206819	0	0	0	0	0	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	DNP	ENST00000550270.1	37	CCDS9085.1																																																																																			.		0.480	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		
KLHL1	57626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	70281793	70281794	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:70281793_70281794CA>AG	ENST00000377844.4	-	10	2909_2910	c.2150_2151TG>CT	c.(2149-2151)aTG>aCT	p.M717T	KLHL1_ENST00000545028.1_Missense_Mutation_p.M524T	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	717					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CATAGGATTCCATAGTGTTGAG	0.416																																					p.M717T		.											.	KLHL1-90	0			c.T2150C						.																																			SO:0001583	missense	57626	exon10			GATTCCATAGTGT	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.2150_2151delinsAG	13.37:g.70281793_70281794delinsAG	ENSP00000367075:p.Met717Thr	150	0		92	0	NM_020866	0	0	0	0	0	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	DNP	ENST00000377844.4	37	CCDS9445.1																																																																																			.		0.416	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
DACH1	1602	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	72063190	72063191	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr13:72063190_72063191GG>AT	ENST00000359684.2	-	8	1821_1822	c.1822_1823CC>AT	c.(1822-1824)CCa>ATa	p.P608I	DACH1_ENST00000354591.4_Missense_Mutation_p.P354I|DACH1_ENST00000313174.7_Missense_Mutation_p.P408I|DACH1_ENST00000305425.4_Missense_Mutation_p.P556I			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	608					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AAAAGGAGATGGAAAACCTGGA	0.47																																					p.P608I		.											.	DACH1-135	0			c.C1666A						.																																			SO:0001583	missense	1602	exon7			GAGATGGAAAACC	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1822_1823delinsAT	13.37:g.72063190_72063191delinsAT	ENSP00000352712:p.Pro608Ile	110	0		56	0	NM_080759	0	0	0	0	0	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	DNP	ENST00000359684.2	37																																																																																				.		0.470	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392	
EHD4	30844	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	42246065	42246066	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:42246065_42246066TC>AT	ENST00000220325.4	-	2	392_393	c.309_310GA>AT	c.(307-312)gtGAtg>gtATtg	p.M104L		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	104	Dynamin-type G.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCTCCATACATCACGGCGATGA	0.53																																					p.M104L		.											.	EHD4-92	0			c.G309A						.																																			SO:0001583	missense	30844	exon2			ATACATCACGGCG	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.309_310delinsAT	15.37:g.42246065_42246066delinsAT	ENSP00000220325:p.Met104Leu	90	0		60	0	NM_139265	0	0	0	0	0	Q9HAR1|Q9NZN2	Missense_Mutation	DNP	ENST00000220325.4	37	CCDS10081.1																																																																																			.		0.530	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265	
ULK3	25989	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	75132951	75132952	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr15:75132951_75132952CC>AA	ENST00000440863.2	-	5	591_592	c.500_501GG>TT	c.(499-501)tGG>tTT	p.W167F	ULK3_ENST00000568667.1_Missense_Mutation_p.W178F|ULK3_ENST00000569437.1_Missense_Mutation_p.W167F	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GCTTCTCATCCCACGGGGACAT	0.609																																					p.W178F		.											.	ULK3-290	0			c.G500T						.																																			SO:0001583	missense	25989	exon5			TCATCCCACGGGG	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.500_501delinsAA	15.37:g.75132951_75132952delinsAA	ENSP00000400312:p.Trp167Phe	154	0		143	5	NM_001099436	0	0	0	0	0	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	DNP	ENST00000440863.2	37	CCDS45305.1																																																																																			.		0.609	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518	
TEKT5	146279	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	10769881	10769882	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:10769881_10769882CC>AA	ENST00000283025.2	-	5	1091_1092	c.1020_1021GG>TT	c.(1018-1023)ctGGcc>ctTTcc	p.A341S		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	341						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCGTTGAAGGCCAGGTTGGTGT	0.589																																					p.A341S		.											.	TEKT5-92	0			c.G1020T						.																																			SO:0001583	missense	146279	exon5			GAAGGCCAGGTTG		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1020_1021delinsAA	16.37:g.10769881_10769882delinsAA	ENSP00000283025:p.Ala341Ser	111	0		134	4	NM_144674	0	0	0	0	0	A1L3Z3	Missense_Mutation	DNP	ENST00000283025.2	37	CCDS10542.1																																																																																			.		0.589	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	
FAM65A	79567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	67579578	67579579	+	Missense_Mutation	DNP	CG	CG	TT	rs375623923		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr16:67579578_67579579CG>TT	ENST00000379312.3	+	19	3335_3336	c.3214_3215CG>TT	c.(3214-3216)CGg>TTg	p.R1072L	FAM65A_ENST00000422602.2_Missense_Mutation_p.R1088L|FAM65A_ENST00000428437.2_Missense_Mutation_p.R1082L|FAM65A_ENST00000540839.3_Missense_Mutation_p.R1087L|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.R1068L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1072						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCTACTGGTGCGGAATCTGAAC	0.634																																					p.R1088L		.											.	FAM65A-92	0			c.G3263T						.																																			SO:0001583	missense	79567	exon19			TGGTGCGGAATCT	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	Exception_encountered	16.37:g.67579578_67579579delinsTT	ENSP00000368614:p.Arg1072Leu	141	0		118	21	NM_001193523	0	0	0	0	0	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	DNP	ENST00000379312.3	37	CCDS54028.1																																																																																			.		0.634	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
CDRT15L2	256223	hgsc.bcm.edu	37	17	20483562	20483563	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:20483562_20483563GG>TT	ENST00000399044.1	+	2	386_387	c.366_367GG>TT	c.(364-369)gaGGga>gaTTga	p.122_123EG>D*	RP11-434D2.12_ENST00000580931.1_lincRNA	NM_001190790.1	NP_001177719.1	A8MXV6	CD15L_HUMAN	CMT1A duplicated region transcript 15-like 2	122						integral component of membrane (GO:0016021)				central_nervous_system(1)	1						TGGAGGTGGAGGGAGCTCCAGC	0.614																																					p.EG122D*		.											.	.	0			c.G367T						.																																			SO:0001587	stop_gained	256223	exon2			GTGGAGGGAGCTC		CCDS54096.1	17p11.2	2008-10-30			ENSG00000214819	ENSG00000214819			34075	protein-coding gene	gene with protein product							Standard	NM_001190790		Approved		uc021tsn.1	A8MXV6	OTTHUMG00000059557	Exception_encountered	17.37:g.20483562_20483563delinsTT	ENSP00000382000:p.E122_G123delinsD*	184	0		194	6	NM_001190790	0	0	0	0	0		Nonsense_Mutation	DNP	ENST00000399044.1	37	CCDS54096.1																																																																																			.		0.614	CDRT15L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132432.3	XM_170840	
PIPOX	51268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	27383223	27383224	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:27383223_27383224GG>AA	ENST00000323372.4	+	8	1399_1400	c.1073_1074GG>AA	c.(1072-1074)gGG>gAA	p.G358E	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	358					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CCTGTGGTGGGGAAGATCCTGT	0.52																																					p.G358E		.											.	PIPOX-90	0			c.G1074A						.																																			SO:0001583	missense	51268	exon8			GGTGGGGAAGATC	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	Exception_encountered	17.37:g.27383223_27383224delinsAA	ENSP00000317721:p.Gly358Glu	133	0		104	12	NM_016518	0	0	0	0	0	B3KNH0|Q96H28|Q9C070	Missense_Mutation	DNP	ENST00000323372.4	37	CCDS11248.1																																																																																			.		0.520	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518	
ABCA5	23461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	67285343	67285344	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:67285343_67285344CC>AG	ENST00000392676.3	-	14	1940_1941	c.1876_1877GG>CT	c.(1876-1878)GGa>CTa	p.G626L	ABCA5_ENST00000588877.1_Missense_Mutation_p.G626L|ABCA5_ENST00000392677.2_Missense_Mutation_p.G626L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	626	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AACAGCAATTCCTAATGACAGC	0.317																																					p.G626L		.											.	ABCA5-93	0			c.G1876C						.																																			SO:0001583	missense	23461	exon13			CAATTCCTAATGA	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1876_1877delinsAG	17.37:g.67285343_67285344delinsAG	ENSP00000376443:p.Gly626Leu	29	0		33	0	NM_018672	0	0	0	0	0	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	DNP	ENST00000392676.3	37	CCDS11685.1																																																																																			.		0.317	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
RBFOX3	146713	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	77111616	77111617	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr17:77111616_77111617TC>AA	ENST00000453134.2	-	5	693_694	c.181_182GA>TT	c.(181-183)GAg>TTg	p.E61L	RBFOX3_ENST00000582043.1_Missense_Mutation_p.E61L|RBFOX3_ENST00000584778.1_Missense_Mutation_p.E61L|RBFOX3_ENST00000583458.1_Missense_Mutation_p.E61L|RBFOX3_ENST00000415831.1_Missense_Mutation_p.E61L|RBFOX3_ENST00000580155.1_Missense_Mutation_p.E61L			A6NFN3	RFOX3_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 3	61					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perikaryon (GO:0043204)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)	2						TGTGCTGGCCTCGGAGCCTGGC	0.698																																					p.E61L		.											.	.	0			c.G181T						.																																			SO:0001583	missense	146713	exon5			TGGCCTCGGAGCC		CCDS45805.1	17q25.3	2013-02-12			ENSG00000167281	ENSG00000167281		"""RNA binding motif (RRM) containing"""	27097	protein-coding gene	gene with protein product	"""neuronal nuclei"", ""hexaribonucleotide binding protein 3"""					16260614	Standard	NM_001082575		Approved	FOX-3, NeuN, HRNBP3	uc010dhs.4	A6NFN3	OTTHUMG00000150183	ENST00000453134.2:c.181_182delinsAA	17.37:g.77111616_77111617delinsAA	ENSP00000393262:p.Glu61Leu	26	0		22	2	NM_001082575	0	0	0	0	0	B4DEG6|B4DF29	Missense_Mutation	DNP	ENST00000453134.2	37	CCDS45805.1																																																																																			.		0.698	RBFOX3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437658.1	NM_001082575	
TSHZ3	57616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	31769009	31769010	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr19:31769009_31769010GG>CT	ENST00000240587.4	-	2	2016_2017	c.1689_1690CC>AG	c.(1687-1692)tcCCtg>tcAGtg	p.L564V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	564					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)					GACGAGCCCAGGGACAACTTCA	0.579																																					p.L564V		.											.	TSHZ3-232	0			c.C1689A						.																																			SO:0001583	missense	57616	exon2			GCCCAGGGACAAC	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.1689_1690delinsCT	19.37:g.31769009_31769010delinsCT	ENSP00000240587:p.Leu564Val	211	0		156	0	NM_020856	0	0	0	0	0	Q9H0G6|Q9P254	Missense_Mutation	DNP	ENST00000240587.4	37	CCDS12421.2																																																																																			.		0.579	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
MEIS1	4211	broad.mit.edu	37	2	66667049	66667050	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:66667049_66667050GG>TT	ENST00000272369.9	+	3	771_772	c.314_315GG>TT	c.(313-315)gGG>gTT	p.G105V	MEIS1_ENST00000495021.2_Missense_Mutation_p.G40V|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000444274.2_Missense_Mutation_p.G73V|MEIS1_ENST00000407092.2_Missense_Mutation_p.G105V|MEIS1_ENST00000398506.2_Missense_Mutation_p.G103V|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000488550.1_Missense_Mutation_p.G105V|MEIS1_ENST00000560281.2_Missense_Mutation_p.G105V	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	105					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CGCGAGCCGGGGGTGGCGGGCG	0.47																																					p.G105V		.											.	MEIS1-226	0			c.G315T						.																																			SO:0001583	missense	4211	exon3			GCCGGGGGTGGCG		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	Exception_encountered	2.37:g.66667049_66667050delinsTT	ENSP00000272369:p.Gly105Val	54	0		47	1	NM_002398	0	0	0	0	0	A8MV50	Missense_Mutation	DNP	ENST00000272369.9	37	CCDS46309.1																																																																																			.		0.470	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398	
LOXL3	84695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	74761338	74761339	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:74761338_74761339GG>TT	ENST00000264094.3	-	12	2035_2036	c.1964_1965CC>AA	c.(1963-1965)gCC>gAA	p.A655E	LOXL3_ENST00000409249.1_Missense_Mutation_p.A373E|LOXL3_ENST00000409549.1_Missense_Mutation_p.A599E|LOXL3_ENST00000409986.1_Missense_Mutation_p.A510E|LOXL3_ENST00000393937.2_Missense_Mutation_p.A510E	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	655	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTCCAAAGTTGGCACACTCATA	0.5																																					p.A655E		.											.	LOXL3-226	0			c.C1964A						.																																			SO:0001583	missense	84695	exon12			AAGTTGGCACACT	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1964_1965delinsTT	2.37:g.74761338_74761339delinsTT	ENSP00000264094:p.Ala655Glu	204	0		190	2	NM_032603	0	0	0	0	0	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	DNP	ENST00000264094.3	37	CCDS1953.1																																																																																			.		0.500	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	179481738	179481739	+	Splice_Site	DNP	CA	CA	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:179481738_179481739CA>TT	ENST00000591111.1	-	206	43178_43179	c.42954_42955TG>AA	c.(42952-42957)gtTGaa>gtAAaa	p.E14319K	TTN_ENST00000342175.6_Splice_Site_p.E7087K|TTN_ENST00000359218.5_Splice_Site_p.E7020K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.E6895K|TTN_ENST00000342992.6_Splice_Site_p.E13392K|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.E15960K			Q8WZ42	TITIN_HUMAN	titin	14319					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGTTGGTTCAACTACAAAGA	0.391																																					p.E13392K		.											.	TTN-636	0			c.T47877A						.																																			SO:0001630	splice_region_variant	7273	exon256			TGGTTCAACTACA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42954_42955delinsTT	2.37:g.179481738_179481739delinsTT		46	0		31	2	NM_001267550	0	0	0	0	0	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	DNP	ENST00000591111.1	37																																																																																				.		0.391	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation
DNPEP	23549	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	220239604	220239605	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr2:220239604_220239605TC>AT	ENST00000273075.4	-	14	1599_1600	c.1379_1380GA>AT	c.(1378-1380)gGA>gAT	p.G460D	DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Missense_Mutation_p.G468D|DNPEP_ENST00000373972.1_Missense_Mutation_p.G385D	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	450					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)		TCTGGAGGACTCCTGTGGTGCA	0.609																																					p.G468D		.											.	DNPEP-90	0			c.G1379A						.																																			SO:0001583	missense	23549	exon14			AGGACTCCTGTGG		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.1379_1380delinsAT	2.37:g.220239604_220239605delinsAT	ENSP00000273075:p.Gly460Asp	72	0		121	0	NM_012100	0	0	0	0	0	Q9BW44|Q9NUV5	Missense_Mutation	DNP	ENST00000273075.4	37	CCDS42823.1																																																																																			.		0.609	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100	
CHGB	1114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	5904314	5904315	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:5904314_5904315CC>AA	ENST00000378961.4	+	4	1728_1729	c.1524_1525CC>AA	c.(1522-1527)tcCCat>tcAAat	p.H509N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	509						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AATATAGCTCCCATCACACAGC	0.485																																					p.H509N		.											.	CHGB-96	0			c.C1525A						.																																			SO:0001583	missense	1114	exon4			AGCTCCCATCACA		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	Exception_encountered	20.37:g.5904314_5904315delinsAA	ENSP00000368244:p.His509Asn	124	0		90	3	NM_001819	0	0	0	0	0	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	DNP	ENST00000378961.4	37	CCDS13092.1																																																																																			.		0.485	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
LAMP5	24141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	9510300	9510301	+	Missense_Mutation	DNP	CC	CC	AA	rs111239272		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr20:9510300_9510301CC>AA	ENST00000246070.2	+	6	1168_1169	c.676_677CC>AA	c.(676-678)CCa>AAa	p.P226K	LAMP5_ENST00000427562.2_Missense_Mutation_p.P182K	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	226						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											GCATAAATGCCCAGTGGATGAG	0.465																																					p.P226K		.											.	.	0			c.C677A						.																																			SO:0001583	missense	24141	exon6			AATGCCCAGTGGA	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	Exception_encountered	20.37:g.9510300_9510301delinsAA	ENSP00000246070:p.Pro226Lys	113	0		72	2	NM_012261	0	0	0	0	0	B4DHZ7|B7Z9Z9	Missense_Mutation	DNP	ENST00000246070.2	37	CCDS13106.1																																																																																			C|0.500;T|0.500		0.465	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261	
TMPRSS15	5651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	19666953	19666954	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:19666953_19666954CC>AT	ENST00000284885.3	-	20	2310_2311	c.2277_2278GG>AT	c.(2275-2280)caGGat>caATat	p.D760Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	760	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATCAAGGAATCCTGTAAACACT	0.282																																					p.D760Y		.											.	TMPRSS15-160	0			c.G2277A						.																																			SO:0001583	missense	5651	exon20			GGAATCCTGTAAA		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2277_2278delinsAT	21.37:g.19666953_19666954delinsAT	ENSP00000284885:p.Asp760Tyr	277	0		227	0	NM_002772	0	0	0	0	0	Q2NKL7	Missense_Mutation	DNP	ENST00000284885.3	37	CCDS13571.1																																																																																			.		0.282	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
KRTAP15-1	254950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	31812927	31812928	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr21:31812927_31812928CC>AA	ENST00000334067.3	+	1	331_332	c.282_283CC>AA	c.(280-285)tcCCtt>tcAAtt	p.L95I		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	95						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ACATAAGATCCCTTGGATGTGG	0.505																																					p.L95I		.											.	KRTAP15-1-90	0			c.C283A						.																																			SO:0001583	missense	254950	exon1			AGATCCCTTGGAT	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	Exception_encountered	21.37:g.31812927_31812928delinsAA	ENSP00000334866:p.Leu95Ile	107	0		119	35	NM_181623	0	0	0	0	0	Q2M3F4	Missense_Mutation	DNP	ENST00000334067.3	37	CCDS13593.1																																																																																			.		0.505	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1		
TRH	7200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	129695711	129695712	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:129695711_129695712CG>AA	ENST00000302649.3	+	3	908_909	c.381_382CG>AA	c.(379-384)gtCGat>gtAAat	p.D128N	TRH_ENST00000507066.1_Missense_Mutation_p.D124N	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	128					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CATGGTCAGTCGATGTAACCCA	0.619																																					p.D128N	Esophageal Squamous(60;321 1330 17401 41911)	.											.	TRH-91	0			c.G382A						.																																			SO:0001583	missense	7200	exon3			TCAGTCGATGTAA		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		Exception_encountered	3.37:g.129695711_129695712delinsAA	ENSP00000303452:p.Asp128Asn	189	0		188	5	NM_007117	0	0	0	0	0	B2R8R1|Q2TB83	Missense_Mutation	DNP	ENST00000302649.3	37	CCDS3066.1																																																																																			.		0.619	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117	
COL6A5	256076	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	130159376	130159377	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:130159376_130159377CC>AA	ENST00000432398.2	+	35	6688_6689	c.6194_6195CC>AA	c.(6193-6195)aCC>aAA	p.T2065K	COL6A5_ENST00000265379.6_Missense_Mutation_p.T2065K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2065	Nonhelical region.|VWFA 9. {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						CTACTGTGGACCACTGAAAATC	0.386																																					p.T2065K		.											.	.	0			c.C6195A						.																																			SO:0001583	missense	256076	exon35			GTGGACCACTGAA	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	Exception_encountered	3.37:g.130159376_130159377delinsAA	ENSP00000390895:p.Thr2065Lys	126	0		146	30	NM_153264	0	0	0	0	0	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	DNP	ENST00000432398.2	37																																																																																				.		0.386	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
TM4SF1	4071	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	149095253	149095254	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr3:149095253_149095254GC>TT	ENST00000305366.3	-	1	398_399	c.81_82GC>AA	c.(79-84)ttGCtt>ttAAtt	p.L28I	TM4SF1_ENST00000472441.1_5'Flank|TM4SF1-AS1_ENST00000484046.1_RNA|TM4SF1-AS1_ENST00000496491.1_RNA	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	28						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGAAAGTAAAGCAAAATATTAG	0.525																																					p.L28I		.											.	TM4SF1-90	0			c.G81A						.																																			SO:0001583	missense	4071	exon1			GTAAAGCAAAATA	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"""transmembrane 4 superfamily member 1"""	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.81_82delinsTT	3.37:g.149095253_149095254delinsTT	ENSP00000304277:p.Leu28Ile	276	0		241	30	NM_014220	0	0	0	0	0	Q6IB51	Missense_Mutation	DNP	ENST00000305366.3	37	CCDS3143.1																																																																																			.		0.525	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1		
GRIA2	2891	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	158281286	158281287	+	Nonsense_Mutation	DNP	CC	CC	AG	rs375723423	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:158281286_158281287CC>AG	ENST00000264426.9	+	13	2561_2562	c.2282_2283CC>AG	c.(2281-2283)tCC>tAG	p.S761*	GRIA2_ENST00000296526.7_Nonsense_Mutation_p.S761*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.S714*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.S714*|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.S714*	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	761					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CCTAAAGGATCCTCATTAAGGT	0.421																																					p.S761*		.											.	GRIA2-515	0			c.C2283G						.																																			SO:0001587	stop_gained	2891	exon13			AGGATCCTCATTA		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	Exception_encountered	4.37:g.158281286_158281287delinsAG	ENSP00000264426:p.Ser761*	231	0		151	0	NM_000826	0	0	0	0	0	A8MT92|I6L997|Q96FP6	Nonsense_Mutation	DNP	ENST00000264426.9	37	CCDS43274.1																																																																																			.		0.421	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	187539244	187539245	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr4:187539244_187539245CC>AA	ENST00000441802.2	-	10	8704_8705	c.8495_8496GG>TT	c.(8494-8496)aGG>aTT	p.R2832I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2832	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATCAGATGCCCTGATCTGAAT	0.441										HNSCC(5;0.00058)																											p.R2834I	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.G8495T						.																																			SO:0001583	missense	2195	exon10			GATGCCCTGATCT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8495_8496delinsAA	4.37:g.187539244_187539245delinsAA	ENSP00000406229:p.Arg2832Ile	112	0		64	3	NM_005245	0	0	0	0	0		Missense_Mutation	DNP	ENST00000441802.2	37	CCDS47177.1																																																																																			.		0.441	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
HCN1	348980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	45262200	45262201	+	Missense_Mutation	DNP	CC	CC	AA	rs199887416|rs267600644		TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr5:45262200_45262201CC>AA	ENST00000303230.4	-	8	2552_2553	c.2495_2496GG>TT	c.(2494-2496)aGG>aTT	p.R832I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	832					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R832S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGACAGTGCTCCTGCCCCCTGC	0.673																																					p.R832I		.											.	HCN1-91	1	Substitution - Missense(1)	lung(1)	c.G2495T						.																																			SO:0001583	missense	348980	exon8			GTGCTCCTGCCCC	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2495_2496delinsAA	5.37:g.45262200_45262201delinsAA	ENSP00000307342:p.Arg832Ile	44	0		70	7	NM_021072	0	0	0	0	0		Missense_Mutation	DNP	ENST00000303230.4	37	CCDS3952.1																																																																																			C|0.999;G|0.000		0.673	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
HLA-DQB2	3120	broad.mit.edu;bcgsc.ca	37	6	32729575	32729576	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:32729575_32729576GG>CT	ENST00000437316.2	-	2	288_289	c.225_226CC>AG	c.(223-228)ttCCag>ttAGag	p.75_76FQ>LE	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.75_76FQ>LE|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.75_76FQ>LE			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	79	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						GTCACCGCCTGGAACTCCCCAA	0.609																																					p.FQ75LE		.											.	.	0			c.C225A						.																																			SO:0001583	missense	3120	exon2			CGCCTGGAACTCC	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.225_226delinsCT	6.37:g.32729575_32729576delinsCT	ENSP00000396330:p.F75_Q76delinsLE	122	0		179	0	NM_001198858	0	0	0	0	0	A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	DNP	ENST00000437316.2	37																																																																																				.		0.609	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2		
GPR111	222611	hgsc.bcm.edu	37	6	47649787	47649788	+	Nonsense_Mutation	DNP	GC	GC	TG			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr6:47649787_47649788GC>TG	ENST00000296862.1	+	6	1492_1493	c.1492_1493GC>TG	c.(1492-1494)GCa>TGa	p.A498*	GPR111_ENST00000398742.2_Nonsense_Mutation_p.A430*|GPR111_ENST00000507065.1_Nonsense_Mutation_p.A430*			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	498					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTTGCTGATGGCAGATGTGTGG	0.446																																					p.A498*		.											.	GPR111-91	0			c.C1289G						.																																			SO:0001587	stop_gained	222611	exon7			TGATGGCAGATGT	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	Exception_encountered	6.37:g.47649787_47649788delinsTG	ENSP00000296862:p.Ala498*	264	0		276	0	NM_153839	0	0	0	0	0	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Nonsense_Mutation	DNP	ENST00000296862.1	37																																																																																				.		0.446	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839	
ICA1	3382	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	8258073	8258074	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:8258073_8258074CC>AA	ENST00000402384.3	-	6	706_707	c.440_441GG>TT	c.(439-441)cGG>cTT	p.R147L	ICA1_ENST00000407906.1_Missense_Mutation_p.R147L|ICA1_ENST00000476942.1_5'UTR|ICA1_ENST00000396675.3_Missense_Mutation_p.R147L|ICA1_ENST00000401396.1_Missense_Mutation_p.R135L|ICA1_ENST00000406470.2_Missense_Mutation_p.R147L|ICA1_ENST00000422063.2_Missense_Mutation_p.R147L|ICA1_ENST00000265577.7_Missense_Mutation_p.R146L			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	147	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTGAGATGGCCCGATGCCGAAA	0.49																																					p.R147L		.											.	ICA1-515	0			c.G440T						.																																			SO:0001583	missense	3382	exon6			ATGGCCCGATGCC		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.440_441delinsAA	7.37:g.8258073_8258074delinsAA	ENSP00000385570:p.Arg147Leu	123	0		89	7	NM_022307	0	0	0	0	0	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	DNP	ENST00000402384.3	37	CCDS34602.1																																																																																			.		0.490	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968	
THSD7A	221981	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	11419314	11419315	+	Missense_Mutation	DNP	AG	AG	CA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	AG	AG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:11419314_11419315AG>CA	ENST00000423059.4	-	25	4783_4784	c.4532_4533CT>TG	c.(4531-4533)cCT>cTG	p.P1511L	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1511					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTCGGCATCAGGCTGGCTCAT	0.46										HNSCC(18;0.044)																											p.P1511L		.											.	THSD7A-71	0			c.C4532T						.																																			SO:0001583	missense	221981	exon24			GCATCAGGCTGGC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4532_4533delinsCA	7.37:g.11419314_11419315delinsCA	ENSP00000406482:p.Pro1511Leu	127	0		86	0	NM_015204	0	0	0	0	0		Missense_Mutation	DNP	ENST00000423059.4	37	CCDS47543.1																																																																																			.		0.460	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
ADCY1	107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	45697346	45697347	+	Missense_Mutation	DNP	AG	AG	GA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	AG	AG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:45697346_45697347AG>GA	ENST00000297323.7	+	6	1191_1192	c.1169_1170AG>GA	c.(1168-1170)gAG>gGA	p.E390G	ADCY1_ENST00000432715.1_Missense_Mutation_p.E165G	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	390					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAAGCCACCGAGGTGGATCTGA	0.609																																					p.E390G		.											.	ADCY1-95	0			c.G1170A						.																																			SO:0001583	missense	107	exon6			CACCGAGGTGGAT	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	Exception_encountered	7.37:g.45697346_45697347delinsGA	ENSP00000297323:p.Glu390Gly	200	0		136	0	NM_021116	0	0	0	0	0	A4D2L8|Q75MI1	Missense_Mutation	DNP	ENST00000297323.7	37	CCDS34631.1																																																																																			.		0.609	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
HGF	3082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	81359060	81359061	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:81359060_81359061CC>AA	ENST00000222390.5	-	8	1126_1127	c.900_901GG>TT	c.(898-903)ttGGaa>ttTTaa	p.300_301LE>F*	HGF_ENST00000457544.2_Nonsense_Mutation_p.295_296LE>F*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	300				L -> M (in Ref. 2; CAA34387). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCAGTTGTTTCCAAAGGAACAT	0.381																																					p.LE300F*		.											.	HGF-516	0			c.G900T						.																																			SO:0001587	stop_gained	3082	exon8			TGTTTCCAAAGGA		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.900_901delinsAA	7.37:g.81359060_81359061delinsAA	ENSP00000222390:p.L300_E301delinsF*	94	0		59	4	NM_000601	0	0	0	0	0	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	DNP	ENST00000222390.5	37	CCDS5597.1																																																																																			.		0.381	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
EPO	2056	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	100320745	100320746	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:100320745_100320746GG>AT	ENST00000252723.2	+	5	752_753	c.571_572GG>AT	c.(571-573)GGg>ATg	p.G191M		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	191					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGCAGGACAGGGGACAGATGA	0.584																																					p.G191M		.											.	EPO-514	0			c.G572T						.																																			SO:0001583	missense	2056	exon5			GGACAGGGGACAG	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	Exception_encountered	7.37:g.100320745_100320746delinsAT	ENSP00000252723:p.Gly191Met	135	0		167	0	NM_000799	0	0	0	0	0	Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	DNP	ENST00000252723.2	37	CCDS5705.1																																																																																			.		0.584	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799	
PLOD3	8985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	100855544	100855545	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:100855544_100855545CC>AT	ENST00000223127.3	-	10	1514_1515	c.1116_1117GG>AT	c.(1114-1119)agGGac>agATac	p.D373Y		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	373					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATGGCCATGTCCCTGGCCTCGC	0.663																																					p.D373Y		.											.	PLOD3-92	0			c.G1116A						.																																			SO:0001583	missense	8985	exon10			CATGTCCCTGGCC	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1116_1117delinsAT	7.37:g.100855544_100855545delinsAT	ENSP00000223127:p.Asp373Tyr	104	0		162	0	NM_001084	0	0	0	0	0	B2R6W6|Q540C3	Missense_Mutation	DNP	ENST00000223127.3	37	CCDS5715.1																																																																																			.		0.663	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1		
DENND2A	27147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	140269463	140269464	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:140269463_140269464CC>AA	ENST00000275884.6	-	6	1938_1939	c.1521_1522GG>TT	c.(1519-1524)atGGag>atTTag	p.507_508ME>I*	DENND2A_ENST00000496613.1_Nonsense_Mutation_p.507_508ME>I*|DENND2A_ENST00000492720.1_Nonsense_Mutation_p.507_508ME>I*|DENND2A_ENST00000537639.1_Nonsense_Mutation_p.507_508ME>I*			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	507					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAGTTGCTCTCCATTGACTGGG	0.52																																					p.ME507I*		.											.	DENND2A-138	0			c.G1521T						.																																			SO:0001587	stop_gained	27147	exon5			GCTCTCCATTGAC	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1521_1522delinsAA	7.37:g.140269463_140269464delinsAA	ENSP00000275884:p.M507_E508delinsI*	56	0		95	4	NM_015689	0	0	0	0	0	C9JUI3|Q1RMD5|Q86XY0	Nonsense_Mutation	DNP	ENST00000275884.6	37	CCDS43659.1																																																																																			.		0.520	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
FAM115A	9747	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	143573262	143573263	+	Missense_Mutation	DNP	CC	CC	AA	rs200784338	byFrequency	TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chr7:143573262_143573263CC>AA	ENST00000479870.1	-	2	647_648	c.439_440GG>TT	c.(439-441)GGc>TTc	p.G147F	FAM115A_ENST00000355951.2_Missense_Mutation_p.G147F|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	147										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					TATGAGCAAGCCGCCACCACAT	0.53																																					p.G147F		.											.	FAM115A-68	0			c.G439T						.																																			SO:0001583	missense	9747	exon2			GCAAGCCGCCACC	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.439_440delinsAA	7.37:g.143573262_143573263delinsAA	ENSP00000419235:p.Gly147Phe	132	0		187	12	NM_001206938	0	0	0	0	0	A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Missense_Mutation	DNP	ENST00000479870.1	37	CCDS5886.1																																																																																			C|0.999;T|0.001		0.530	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719	
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	32360319	32360320	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:32360319_32360320CC>AA	ENST00000357033.4	-	41	6025_6026	c.5819_5820GG>TT	c.(5818-5820)gGG>gTT	p.G1940V	DMD_ENST00000378677.2_Missense_Mutation_p.G1936V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1940					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCATTGCGGCCCCATCCTCAGA	0.49																																					p.G1940V		.											.	DMD-265	0			c.G5819T						.																																			SO:0001583	missense	1756	exon41			GCGGCCCCATCCT	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5819_5820delinsAA	X.37:g.32360319_32360320delinsAA	ENSP00000354923:p.Gly1940Val	195	0		179	9	NM_004006	0	0	0	0	0	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	DNP	ENST00000357033.4	37	CCDS14233.1																																																																																			.		0.490	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
RBMXL3	139804	ucsc.edu;bcgsc.ca;mdanderson.org	37	X	114425745	114425746	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:114425745_114425746CA>TG	ENST00000424776.3	+	1	1783_1784	c.1741_1742CA>TG	c.(1741-1743)CAg>TGg	p.Q581W	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	581	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						CAGTTCCAGCCAGAGCAACCGC	0.673																																					p.Q581W		.											.	.	0			c.A1742G						.																																			SO:0001583	missense	139804	exon1			CCAGCCAGAGCAA	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	Exception_encountered	X.37:g.114425745_114425746delinsTG	ENSP00000417451:p.Gln581Trp	207	0		294	0	NM_001145346	0	0	0	0	0	B4DXC0	Missense_Mutation	DNP	ENST00000424776.3	37	CCDS55478.1																																																																																			.		0.673	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
NKRF	55922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	118723961	118723962	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	AG	AG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:118723961_118723962AG>TT	ENST00000371527.1	-	2	2078_2079	c.1426_1427CT>AA	c.(1426-1428)CTc>AAc	p.L476N	NKRF_ENST00000304449.5_Missense_Mutation_p.L476N|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.L491N	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	476					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TTTCCAGCGGAGGCCTGTCATC	0.436																																					p.L491N		.											.	NKRF-131	0			c.C1471A						.																																			SO:0001583	missense	55922	exon4			AGCGGAGGCCTGT	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1426_1427delinsTT	X.37:g.118723961_118723962delinsTT	ENSP00000360582:p.Leu476Asn	48	0		54	5	NM_001173487	0	0	0	0	0	G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	DNP	ENST00000371527.1	37	CCDS35375.1																																																																																			.		0.436	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544	
BCORL1	63035	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	129147234	129147235	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:129147234_129147235GG>TT	ENST00000218147.7	+	4	683_684	c.486_487GG>TT	c.(484-489)ttGGac>ttTTac	p.162_163LD>FY	BCORL1_ENST00000540052.1_Missense_Mutation_p.162_163LD>FY|BCORL1_ENST00000359304.2_Missense_Mutation_p.162_163LD>FY|BCORL1_ENST00000303743.5_Missense_Mutation_p.162_163LD>FY			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	162					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TAAAGGCTTTGGACTCTCGGCA	0.564																																					p.LD162FY		.											.	BCORL1-294	0			c.G487T						.																																			SO:0001583	missense	63035	exon3			GCTTTGGACTCTC	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	Exception_encountered	X.37:g.129147234_129147235delinsTT	ENSP00000218147:p.L162_D163delinsFY	208	0		237	10	NM_021946	0	0	0	0	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	DNP	ENST00000218147.7	37	CCDS14616.1																																																																																			.		0.564	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
OR13H1	347468	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	130678317	130678318	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:130678317_130678318CT>AA	ENST00000338616.3	+	1	368_369	c.270_271CT>AA	c.(268-273)ccCTac>ccAAac	p.Y91N		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CTACCCATCCCTACCTCTCTTA	0.505																																					p.Y91N		.											.	OR13H1-108	0			c.T271A						.																																			SO:0001583	missense	347468	exon1			CATCCCTACCTCT		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	Exception_encountered	X.37:g.130678317_130678318delinsAA	ENSP00000340748:p.Tyr91Asn	204	0		185	10	NM_001004486	0	0	0	0	0	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	DNP	ENST00000338616.3	37	CCDS35396.1																																																																																			.		0.505	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1		
DDX26B	203522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	134679497	134679498	+	Splice_Site	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:134679497_134679498GG>TT	ENST00000370752.4	+	3	673	c.339_339GG>TT	c.(337-339)caGG>caTTg	p.Q113H	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	113	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ATTATGGACAGGTAAAAATAAT	0.342																																					.		.											.	DDX26B-226	0			c.339+1G>T						.																																			SO:0001630	splice_region_variant	203522	exon3			GGACAGGTAAAAA	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	Exception_encountered	X.37:g.134679497_134679498delinsTT		113	0		87	2	NM_182540	0	0	0	0	0	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Splice_Site	DNP	ENST00000370752.4	37	CCDS35401.1																																																																																			.		0.342	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	Missense_Mutation
IL9R	3581	broad.mit.edu;bcgsc.ca	37	X	155239857	155239858	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-OR-A5KB-01A-11D-A30A-10	TCGA-OR-A5KB-11A-11D-A30A-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	345f8ed2-85e0-4e5d-ab6e-2927776208ea	589759bc-d52f-438a-a57d-8498c9c9929c	g.chrX:155239857_155239858GG>TT	ENST00000244174.5	+	9	1528_1529	c.1349_1350GG>TT	c.(1348-1350)gGG>gTT	p.G450V	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.G429V|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	450					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTGCTATGGGGGATGGCACC	0.629																																					p.G450V		.											.	IL9R-40	0			c.G1350T						.																																			SO:0001583	missense	3581	exon9			CTATGGGGGATGG	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	Exception_encountered	X.37:g.155239857_155239858delinsTT	ENSP00000244174:p.Gly450Val	336	0		360	20	NM_002186	0	0	0	0	0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	DNP	ENST00000244174.5	37	CCDS14771.4																																																																																			.		0.629	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186	
