#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
SRM	6723	hgsc.bcm.edu	37	1	11119899	11119899	+	Silent	SNP	T	T	C	rs7545802		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	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	19	19	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	
RPS6KA1	6195	hgsc.bcm.edu	37	1	26856462	26856462	+	Silent	SNP	T	T	G	rs11800553	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:26856462T>G	ENST00000374168.2	+	1	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	RPS6KA1_ENST00000374162.2_5'Flank|RPS6KA1_ENST00000374166.4_Silent_p.P17P|RPS6KA1_ENST00000526792.1_5'Flank	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		4	4	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	
RRAGC	64121	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	39321479	39321479	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:39321479T>A	ENST00000373001.3	-	3	718	c.542A>T	c.(541-543)gAt>gTt	p.D181V		NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AGACAGACCATCAACTTTGTG	0.393																																					p.D181V		.											.	RRAGC-91	0			c.A542T						.						161.0	156.0	158.0					1																	39321479		2203	4300	6503	SO:0001583	missense	64121	exon3			AGACCATCAACTT	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.542A>T	1.37:g.39321479T>A	ENSP00000362092:p.Asp181Val	115	0		95	6	NM_022157	0	0	7	7	0		Missense_Mutation	SNP	ENST00000373001.3	37	CCDS430.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814469	0.90790	.	.	ENSG00000116954	ENST00000373001	D	0.96856	-4.15	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.99	D	0.99675	1.0997	10	0.87932	D	0	-33.4265	16.6245	0.84952	0.0:0.0:0.0:1.0	.	147;115;181	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	V	181	ENSP00000362092:D181V	ENSP00000362092:D181V	D	-	2	0	RRAGC	39094066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	GAT	.		0.393	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157	
ZCCHC11	23318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	52943488	52943488	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:52943488A>G	ENST00000371544.3	-	12	2177	c.1915T>C	c.(1915-1917)Ttc>Ctc	p.F639L	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.F639L|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	639	PAP-associated 1.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTGTGTAGAATTTAAGCAGC	0.353																																					p.F639L		.											.	ZCCHC11-93	0			c.T1915C						.						106.0	108.0	107.0					1																	52943488		2203	4300	6503	SO:0001583	missense	23318	exon12			TGTAGAATTTAAG	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1915T>C	1.37:g.52943488A>G	ENSP00000360599:p.Phe639Leu	111	0		112	18	NM_001009881	0	0	1	1	0	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321294	0.81580	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.38	5.38	0.77491	PAP/25A-associated (1);	0.000000	0.85682	D	0.000000	D	0.86822	0.6025	M	0.71036	2.16	0.80722	D	1	P;D;P	0.76494	0.92;0.999;0.801	P;D;P	0.74674	0.575;0.984;0.458	D	0.87809	0.2630	10	0.56958	D	0.05	.	15.3685	0.74541	1.0:0.0:0.0:0.0	.	398;639;639	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	L	639;639;568;398	ENSP00000257177:F639L;ENSP00000360599:F639L;ENSP00000433486:F568L;ENSP00000435256:F398L	ENSP00000257177:F639L	F	-	1	0	ZCCHC11	52716076	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.725000	0.91468	2.023000	0.59567	0.528000	0.53228	TTC	.		0.353	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
SSBP3	23648	broad.mit.edu	37	1	54871665	54871665	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:54871665T>C	ENST00000371320.3	-	1	427	c.17A>G	c.(16-18)aAa>aGa	p.K6R	SSBP3_ENST00000417664.2_5'Flank|SSBP3_ENST00000357475.4_Missense_Mutation_p.K6R|SSBP3_ENST00000371319.3_Missense_Mutation_p.K6R	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	6					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						CGCCGAGCCTTTGCCTTTGGC	0.736																																					p.K6R		.											.	SSBP3-90	0			c.A17G						.						4.0	5.0	5.0					1																	54871665		2079	4010	6089	SO:0001583	missense	23648	exon1			GAGCCTTTGCCTT		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.17A>G	1.37:g.54871665T>C	ENSP00000360371:p.Lys6Arg	81	1		68	5	NM_001009955	0	0	10	10	0	A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	CCDS591.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645914	0.47258	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	2.64	2.64	0.31445	.	0.000000	0.46758	U	0.000271	T	0.45155	0.1328	L	0.38838	1.175	0.35702	D	0.815734	B;B;B	0.18968	0.02;0.004;0.032	B;B;B	0.24006	0.018;0.012;0.05	T	0.52540	-0.8562	9	0.62326	D	0.03	.	8.2855	0.31926	0.0:0.0:0.0:1.0	.	6;6;6	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	R	6	.	ENSP00000350067:K6R	K	-	2	0	SSBP3	54644253	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.586000	0.53950	0.978000	0.38470	0.240000	0.17902	AAA	.		0.736	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070	
ERICH3	127254	broad.mit.edu	37	1	75036922	75036922	+	Missense_Mutation	SNP	A	A	G	rs377014512		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:75036922A>G	ENST00000326665.5	-	14	4690	c.4472T>C	c.(4471-4473)cTa>cCa	p.L1491P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1491										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATCGCCTGTAGACTCTCCGG	0.527																																					p.L1491P		.											.	C1orf173-94	0			c.T4472C						.	A	PRO/LEU	0,4406		0,0,2203	186.0	172.0	177.0		4472	-10.2	0.0	1		177	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf173	NM_001002912.4	98	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	1491/1531	75036922	1,13005	2203	4300	6503	SO:0001583	missense	127254	exon14			GCCTGTAGACTCT																												ENST00000326665.5:c.4472T>C	1.37:g.75036922A>G	ENSP00000322609:p.Leu1491Pro	169	0		126	4	NM_001002912	0	0	0	0	0	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426642	0.43020	0.0	1.16E-4	ENSG00000178965	ENST00000326665	T	0.10960	2.82	5.08	-10.2	0.00374	.	.	.	.	.	T	0.01421	0.0046	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.45338	-0.9268	9	0.34782	T	0.22	1.7867	11.3387	0.49520	0.2179:0.2698:0.5124:0.0	.	1491	Q5RHP9	CA173_HUMAN	P	1491	ENSP00000322609:L1491P	ENSP00000322609:L1491P	L	-	2	0	C1orf173	74809510	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.961000	0.01516	-2.183000	0.00763	-0.379000	0.06801	CTA	.		0.527	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
NBPF14	25832	bcgsc.ca	37	1	148004732	148004732	+	Missense_Mutation	SNP	A	A	C	rs77570381	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:148004732A>C	ENST00000369219.1	-	22	2598	c.2582T>G	c.(2581-2583)aTa>aGa	p.I861R				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	861	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CGAATAACATATATCCAGTGA	0.443													-|||	888	0.177316	0.3563	0.17	5008	,	,		21568	0.0387		0.1571	False		,,,				2504	0.1043				p.I861R		.											.	NBPF14-91	0			c.T2582G						.						137.0	206.0	184.0					1																	148004732		1975	4175	6150	SO:0001583	missense	25832	exon22			TAACATATATCCA	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2582T>G	1.37:g.148004732A>C	ENSP00000358221:p.Ile861Arg	283	26		91	38	NM_015383	0	0	0	88	88	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0|0	-2.808263|-2.808263	0.00074|0.00074	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000369368|ENST00000310701	T|.	0.04758|.	3.56|.	0.445|0.445	-0.821|-0.821	0.10822|0.10822	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.00552|0.00552	0.0018|0.0018	N|N	0.00067|0.00067	-2.295|-2.295	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.25572|0.25572	-1.0128|-1.0128	8|4	0.02654|.	T|.	1|.	.|.	.|.	.|.	.|.	.|.	209;842;861|.	F8WEX8;B4DH59;Q5TI25|.	.;.;NBPFE_HUMAN|.	R|D	861;209|867	ENSP00000358221:I861R|.	ENSP00000358221:I861R|.	I|Y	-|-	2|1	0|0	NBPF14|NBPF14	146471356|146471356	0.672000|0.672000	0.27530|0.27530	0.001000|0.001000	0.08648|0.08648	0.018000|0.018000	0.09664|0.09664	-2.116000|-2.116000	0.01327|0.01327	-2.455000|-2.455000	0.00540|0.00540	-2.125000|-2.125000	0.00346|0.00346	ATA|TAT	C|1.000;|0.000		0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383	
NBPF14	25832	bcgsc.ca	37	1	148004749	148004749	+	Silent	SNP	C	C	T	rs77143638	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:148004749C>T	ENST00000369219.1	-	22	2581	c.2565G>A	c.(2563-2565)ttG>ttA	p.L855L				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	855	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GTGAGTCCTGCAAGACTTCAG	0.458													-|||	661	0.131989	0.2867	0.0922	5008	,	,		17971	0.0516		0.0964	False		,,,				2504	0.0706				p.L855L		.											.	NBPF14-91	0			c.G2565A						.						108.0	170.0	151.0					1																	148004749		1903	4152	6055	SO:0001819	synonymous_variant	25832	exon22			GTCCTGCAAGACT	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2565G>A	1.37:g.148004749C>T		216	6		68	12	NM_015383	0	0	131	150	19	Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37		.	.	.	.	.	.	.	.	.	.	N	0.300	-0.974481	0.02215	.	.	ENSG00000122497	ENST00000310701	.	.	.	0.464	-0.927	0.10451	.	.	.	.	.	T	0.05640	0.0148	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38286	-0.9668	3	.	.	.	.	.	.	.	.	.	.	.	Y	861	.	.	C	-	2	0	NBPF14	146471373	0.562000	0.26586	0.001000	0.08648	0.010000	0.07245	-2.181000	0.01257	-1.935000	0.01049	-1.057000	0.02308	TGC	C|0.986;T|0.014		0.458	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383	
PEA15	8682	broad.mit.edu;bcgsc.ca	37	1	160182974	160182974	+	Silent	SNP	A	A	C	rs61756023	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:160182974A>C	ENST00000360472.4	+	3	435	c.247A>C	c.(247-249)Aga>Cga	p.R83R	PEA15_ENST00000368076.1_Silent_p.R104R|PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368077.1_Silent_p.R61R	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	83					apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)				large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTGACTACAGAACCCGTGT	0.522																																					p.R83R		.											.	PEA15-658	0			c.A247C						.	A		1,4405	2.1+/-5.4	0,1,2202	186.0	158.0	167.0		247	4.4	1.0	1	dbSNP_129	167	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	PEA15	NM_003768.3		0,10,6493	CC,CA,AA		0.1047,0.0227,0.0769		83/131	160182974	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	8682	exon3			GACTACAGAACCC	Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"""Phosphoprotein enriched in astrocytes, 15kD"", ""homolog of mouse MAT-1 oncogene"""	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.247A>C	1.37:g.160182974A>C		254	0		191	7	NM_003768	0	0	53	56	3	B1AKZ3|O00511	Silent	SNP	ENST00000360472.4	37	CCDS1199.1																																																																																			A|0.999;C|0.001		0.522	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768	
SWT1	54823	bcgsc.ca	37	1	185240474	185240474	+	Missense_Mutation	SNP	A	A	G	rs12041704	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:185240474A>G	ENST00000367500.4	+	17	2626	c.2461A>G	c.(2461-2463)Aat>Gat	p.N821D	SWT1_ENST00000367501.3_Missense_Mutation_p.N821D	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	821			N -> D (in dbSNP:rs12041704). {ECO:0000269|PubMed:15489334}.							breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CCCAAACAGTAATTATCAAGA	0.284													A|||	1743	0.348043	0.2428	0.3963	5008	,	,		13198	0.245		0.4433	False		,,,				2504	0.4642				p.N821D		.											.	SWT1-91	0			c.A2461G						.	A	ASP/ASN,ASP/ASN	1203,3175	380.2+/-323.6	164,875,1150	38.0	39.0	39.0		2461,2461	4.8	1.0	1	dbSNP_120	39	3641,4921	504.5+/-376.2	786,2069,1426	yes	missense,missense	SWT1	NM_001105518.1,NM_017673.6	23,23	950,2944,2576	GG,GA,AA		42.5251,27.4783,37.4343	benign,benign	821/901,821/901	185240474	4844,8096	2189	4281	6470	SO:0001583	missense	54823	exon17			AACAGTAATTATC	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2461A>G	1.37:g.185240474A>G	ENSP00000356470:p.Asn821Asp	182	2		114	5	NM_017673	0	0	2	2	0	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	763	0.34935897435897434	132	0.2682926829268293	134	0.3701657458563536	170	0.2972027972027972	327	0.4313984168865435	A	16.44	3.123324	0.56613	0.274783	0.425251	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.20200	2.09;2.09	6.02	4.8	0.61643	.	0.263012	0.43747	D	0.000535	T	0.00012	0.0000	N	0.24115	0.695	0.41524	P	0.011584000000000039	P	0.49090	0.919	B	0.42692	0.395	T	0.42068	-0.9473	9	0.11794	T	0.64	.	9.9289	0.41510	0.838:0.0:0.0:0.162	rs12041704;rs12756341;rs17578728;rs17852826;rs52806916;rs60303559;rs12041704	821	Q5T5J6	SWT1_HUMAN	D	821	ENSP00000356471:N821D;ENSP00000356470:N821D	ENSP00000356470:N821D	N	+	1	0	SWT1	183507097	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.076000	0.50081	2.299000	0.77371	0.528000	0.53228	AAT	A|0.637;G|0.363		0.284	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
SLC30A1	7779	broad.mit.edu;ucsc.edu	37	1	211749518	211749518	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:211749518G>A	ENST00000367001.4	-	2	865	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	246					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AAAACTCCACGCATGTTAAGT	0.423																																					p.R246C		.											.	SLC30A1-93	0			c.C736T						.						53.0	54.0	54.0					1																	211749518		2203	4299	6502	SO:0001583	missense	7779	exon2			CTCCACGCATGTT	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.736C>T	1.37:g.211749518G>A	ENSP00000355968:p.Arg246Cys	119	0		113	3	NM_021194	0	0	15	17	2	Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749330	0.69533	.	.	ENSG00000170385	ENST00000367001	T	0.68479	-0.33	5.18	4.21	0.49690	.	0.049221	0.85682	D	0.000000	D	0.87561	0.6208	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91531	0.5242	10	0.72032	D	0.01	-7.6689	14.4607	0.67448	0.0:0.0:0.8522:0.1478	.	246	Q9Y6M5	ZNT1_HUMAN	C	246	ENSP00000355968:R246C	ENSP00000355968:R246C	R	-	1	0	SLC30A1	209816141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.575000	0.82447	2.419000	0.82065	0.557000	0.71058	CGT	.		0.423	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2		
RYR2	6262	broad.mit.edu;bcgsc.ca	37	1	237754280	237754280	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr1:237754280G>T	ENST00000366574.2	+	31	4465	c.4148G>T	c.(4147-4149)cGt>cTt	p.R1383L	RYR2_ENST00000542537.1_Missense_Mutation_p.R1367L|RYR2_ENST00000360064.6_Missense_Mutation_p.R1381L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1383	4 X approximate repeats.|B30.2/SPRY 3. {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)			AAGCCCTCTCGTCTGAAACAA	0.398																																					p.R1383L		.											.	RYR2-158	0			c.G4148T						.						51.0	48.0	49.0					1																	237754280		1858	4096	5954	SO:0001583	missense	6262	exon31			CCTCTCGTCTGAA	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.4148G>T	1.37:g.237754280G>T	ENSP00000355533:p.Arg1383Leu	34	0		37	4	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	12.55	1.971468	0.34754	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96940	-4.18;-4.15;-4.18	5.34	5.34	0.76211	B30.2/SPRY domain (1);	0.100459	0.40469	N	0.001098	D	0.88066	0.6337	N	0.02011	-0.69	0.80722	D	1	P	0.35401	0.499	B	0.26202	0.067	D	0.88555	0.3119	10	0.49607	T	0.09	.	17.7618	0.88466	0.0:0.0:1.0:0.0	.	1383	Q92736	RYR2_HUMAN	L	1383;1381;1367	ENSP00000355533:R1383L;ENSP00000353174:R1381L;ENSP00000443798:R1367L	ENSP00000353174:R1381L	R	+	2	0	RYR2	235820903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.283000	0.72646	2.937000	0.99478	0.650000	0.86243	CGT	.		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
STOX1	219736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	70644430	70644430	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr10:70644430G>A	ENST00000298596.6	+	3	961	c.878G>A	c.(877-879)tGt>tAt	p.C293Y	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.C293Y|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.C183Y	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	293						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						CACCACATTTGTGAGAGCACC	0.463																																					p.C293Y		.											.	STOX1-92	0			c.G878A						.						118.0	118.0	118.0					10																	70644430		1920	4129	6049	SO:0001583	missense	219736	exon3			ACATTTGTGAGAG	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.878G>A	10.37:g.70644430G>A	ENSP00000298596:p.Cys293Tyr	113	0		138	63	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	12.12	1.843578	0.32606	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.74632	-0.86;-0.86;-0.54	6.08	0.875	0.19130	.	1.380690	0.04817	U	0.436176	T	0.75295	0.3830	M	0.69823	2.125	0.09310	N	1	P	0.45902	0.868	P	0.45577	0.486	T	0.60244	-0.7301	10	0.66056	D	0.02	.	4.5907	0.12306	0.1244:0.226:0.5326:0.117	.	293	Q6ZVD7	STOX1_HUMAN	Y	293;293;183	ENSP00000382121:C293Y;ENSP00000298596:C293Y;ENSP00000394509:C183Y	ENSP00000298596:C293Y	C	+	2	0	STOX1	70314436	0.997000	0.39634	0.001000	0.08648	0.451000	0.32288	3.420000	0.52735	0.159000	0.19401	0.591000	0.81541	TGT	.		0.463	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709	
OR52K2	119774	broad.mit.edu	37	11	4470956	4470956	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr11:4470956C>A	ENST00000325719.4	+	1	432	c.387C>A	c.(385-387)tgC>tgA	p.C129*	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, 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(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCTATCTGCAAGCCACTGC	0.562																																					p.C129X		.											.	OR52K2-70	0			c.C387A						.						103.0	90.0	94.0					11																	4470956		2201	4298	6499	SO:0001587	stop_gained	119774	exon1			TATCTGCAAGCCA	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.387C>A	11.37:g.4470956C>A	ENSP00000318956:p.Cys129*	163	0		142	4	NM_001005172	0	0	0	0	0	A8MUY8|B2RP35|Q6IFK4	Nonsense_Mutation	SNP	ENST00000325719.4	37	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788326	0.49997	.	.	ENSG00000181963	ENST00000325719	.	.	.	4.16	-0.738	0.11125	.	0.000000	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5072	0.33195	0.0:0.4161:0.0:0.5839	.	.	.	.	X	129	.	ENSP00000318956:C129X	C	+	3	2	OR52K2	4427532	0.000000	0.05858	0.998000	0.56505	0.569000	0.35902	-0.359000	0.07632	-0.011000	0.14247	0.479000	0.44913	TGC	.		0.562	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172	
OR10W1	81341	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	58034971	58034971	+	Silent	SNP	C	C	T	rs200368241	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr11:58034971C>T	ENST00000395079.2	-	1	761	c.360G>A	c.(358-360)ccG>ccA	p.P120P		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P120P(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GGTACTGCAACGGGTGGCAAA	0.532													t|||	4	0.000798722	0.0008	0.0014	5008	,	,		23338	0.0		0.0	False		,,,				2504	0.002				p.P120P		.											.	OR10W1-69	1	Substitution - coding silent(1)	lung(1)	c.G360A						.	T		1,4401	2.1+/-5.4	0,1,2200	117.0	80.0	92.0		360	-11.6	0.0	11		92	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	OR10W1	NM_207374.3		0,3,6493	TT,TC,CC		0.0233,0.0227,0.0231		120/306	58034971	3,12989	2201	4295	6496	SO:0001819	synonymous_variant	81341	exon1			CTGCAACGGGTGG	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.360G>A	11.37:g.58034971C>T		100	0		95	8	NM_207374	0	0	0	0	0	A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	ENST00000395079.2	37	CCDS7968.1																																																																																			C|0.999;T|0.001		0.532	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374	
TMEM132A	54972	hgsc.bcm.edu	37	11	60701987	60701987	+	Silent	SNP	G	G	A	rs7715	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr11:60701987G>A	ENST00000453848.2	+	9	1745	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S	TMEM132A_ENST00000005286.4_Silent_p.S530S			Q24JP5	T132A_HUMAN	transmembrane protein 132A	529						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAGAGGCGTCGGATGAGGCCG	0.776													A|||	2111	0.421526	0.4713	0.4467	5008	,	,		10338	0.3165		0.4225	False		,,,				2504	0.4438				p.S530S		.											.	TMEM132A-227	0			c.G1590A						.	A	,	942,1508		213,516,496	2.0	2.0	2.0		1590,1587	-7.2	0.0	11	dbSNP_52	2	2096,3524		468,1160,1182	no	coding-synonymous,coding-synonymous	TMEM132A	NM_017870.3,NM_178031.2	,	681,1676,1678	AA,AG,GG		37.2954,38.449,37.6456	,	530/1025,529/1024	60701987	3038,5032	1225	2810	4035	SO:0001819	synonymous_variant	54972	exon9			GGCGTCGGATGAG	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1587G>A	11.37:g.60701987G>A		0	0		4	4	NM_017870	0	0	0	29	29	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	CCDS44618.1	914	0.4184981684981685	245	0.49796747967479676	164	0.4530386740331492	185	0.32342657342657344	320	0.42216358839050133	A	4.934	0.173621	0.09391	0.38449	0.372954	ENSG00000006118	ENST00000536409	.	.	.	3.58	-7.16	0.01516	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.999999999658343	.	.	.	.	.	.	T	0.36792	-0.9733	3	.	.	.	.	2.6854	0.05106	0.499:0.0869:0.2045:0.2096	rs7715;rs1054244;rs3168133;rs17341674;rs17349396;rs60745855	.	.	.	R	121	.	.	G	+	1	0	TMEM132A	60458563	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.810000	0.00348	-1.376000	0.01182	GGA	G|0.581;A|0.419		0.776	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	
B4GALNT3	283358	bcgsc.ca	37	12	657404	657404	+	Missense_Mutation	SNP	G	G	A	rs11063529	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr12:657404G>A	ENST00000266383.5	+	9	807	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	265			R -> Q (in dbSNP:rs11063529).		metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGTGGCGACGGAACGACCCT	0.582													G|||	899	0.179513	0.1467	0.1254	5008	,	,		19647	0.1706		0.2525	False		,,,				2504	0.1963				p.R265Q		.											.	B4GALNT3-92	0			c.G794A						.	G	GLN/ARG	750,3656	309.1+/-290.9	62,626,1515	134.0	103.0	114.0		794	1.8	0.8	12	dbSNP_120	114	2010,6590	351.3+/-328.2	235,1540,2525	yes	missense	B4GALNT3	NM_173593.3	43	297,2166,4040	AA,AG,GG		23.3721,17.0222,21.221	benign	265/999	657404	2760,10246	2203	4300	6503	SO:0001583	missense	283358	exon9			GGCGACGGAACGA	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.794G>A	12.37:g.657404G>A	ENSP00000266383:p.Arg265Gln	189	0		227	8	NM_173593	0	0	0	0	0	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	CCDS8504.1	420	0.19230769230769232	89	0.18089430894308944	62	0.1712707182320442	85	0.1486013986013986	184	0.24274406332453827	G	11.78	1.740922	0.30865	0.170222	0.233721	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.23950	1.88;1.88	4.97	1.81	0.25067	PA14 (2);	0.304442	0.31051	N	0.008359	T	0.00012	0.0000	L	0.31752	0.955	0.38672	P	0.047668000000000044	P;P	0.40398	0.716;0.469	B;B	0.25405	0.06;0.035	T	0.40942	-0.9536	9	0.17832	T	0.49	-18.8557	4.382	0.11299	0.2013:0.0:0.4489:0.3498	rs11063529;rs17800762;rs59340019;rs11063529	167;265	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	Q	265;167	ENSP00000266383:R265Q;ENSP00000322953:R167Q	ENSP00000266383:R265Q	R	+	2	0	B4GALNT3	527665	1.000000	0.71417	0.764000	0.31436	0.285000	0.27093	2.952000	0.49097	1.075000	0.40932	-0.258000	0.10820	CGG	G|0.799;A|0.201		0.582	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	
CLEC4C	170482	bcgsc.ca	37	12	7894056	7894056	+	Missense_Mutation	SNP	G	G	A	rs73056605	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr12:7894056G>A	ENST00000542353.1	-	4	686	c.196C>T	c.(196-198)Cca>Tca	p.P66S	CLEC4C_ENST00000354629.5_Missense_Mutation_p.P35S|CLEC4C_ENST00000360345.3_Missense_Mutation_p.P66S|CLEC4C_ENST00000540085.1_Missense_Mutation_p.P35S	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	66				P -> S (in Ref. 3; AAQ88590). {ECO:0000305}.	innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P66S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		GTCAGGCTTGGATGATACTGT	0.428													G|||	936	0.186901	0.0446	0.3285	5008	,	,		-128	0.1994		0.2962	False		,,,				2504	0.1534				p.P66S		.											.	CLEC4C-93	1	Substitution - Missense(1)	stomach(1)	c.C196T						.	G	SER/PRO,SER/PRO	398,4008	197.1+/-221.3	21,356,1826	206.0	173.0	184.0		196,103	-1.3	0.0	12	dbSNP_130	184	2458,6142	406.9+/-349.0	375,1708,2217	yes	missense,missense	CLEC4C	NM_130441.2,NM_203503.1	74,74	396,2064,4043	AA,AG,GG		28.5814,9.0331,21.9591	benign,benign	66/214,35/183	7894056	2856,10150	2203	4300	6503	SO:0001583	missense	170482	exon4			GGCTTGGATGATA	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.196C>T	12.37:g.7894056G>A	ENSP00000440428:p.Pro66Ser	130	1		196	7	NM_130441	0	0	0	0	0	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	499	0.22847985347985347	24	0.04878048780487805	123	0.3397790055248619	132	0.23076923076923078	220	0.29023746701846964	G	0.005	-2.238978	0.00274	0.090331	0.285814	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.02121	4.49;4.44;4.44;4.49	1.79	-1.29	0.09288	.	.	.	.	.	T	0.00012	0.0000	N	0.00162	-1.95	0.80722	P	0.0	B;B	0.19583	0.0;0.037	B;B	0.14023	0.004;0.01	T	0.36432	-0.9748	8	0.05620	T	0.96	.	4.8437	0.13503	0.5335:0.0:0.4665:0.0	.	35;66	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	S	66;35;35;66	ENSP00000440428:P66S;ENSP00000346648:P35S;ENSP00000445338:P35S;ENSP00000353500:P66S	ENSP00000346648:P35S	P	-	1	0	CLEC4C	7785323	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.053000	0.11846	-0.356000	0.08187	-0.351000	0.07748	CCA	G|0.766;A|0.234		0.428	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503	
TBX5	6910	broad.mit.edu	37	12	114793360	114793360	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr12:114793360G>T	ENST00000310346.4	-	9	2200	c.1534C>A	c.(1534-1536)Cca>Aca	p.P512T	TBX5_ENST00000405440.2_Missense_Mutation_p.P512T|TBX5_ENST00000349716.5_Missense_Mutation_p.P462T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	512				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (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)		CTCCACTCTGGCACCATGCCA	0.532																																					p.P512T	NSCLC(152;1358 1980 4050 23898 40356)	.											.	TBX5-98	0			c.C1534A						.						48.0	46.0	47.0					12																	114793360		2203	4300	6503	SO:0001583	missense	6910	exon9			ACTCTGGCACCAT	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.1534C>A	12.37:g.114793360G>T	ENSP00000309913:p.Pro512Thr	123	0		122	4	NM_000192	0	0	0	0	0	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952366	0.73787	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440	D;D;D	0.87966	-2.27;-2.32;-2.32	5.31	4.39	0.52855	.	0.369078	0.30723	N	0.009020	D	0.82678	0.5089	L	0.47716	1.5	0.80722	D	1	P	0.37781	0.608	B	0.32465	0.146	T	0.82959	-0.0198	10	0.59425	D	0.04	.	15.6497	0.77081	0.0:0.1378:0.8622:0.0	.	512	Q99593	TBX5_HUMAN	T	462;512;512	ENSP00000337723:P462T;ENSP00000309913:P512T;ENSP00000384152:P512T	ENSP00000309913:P512T	P	-	1	0	TBX5	113277743	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	1.183000	0.42943	0.655000	0.94253	CCA	.		0.532	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	
MICU2	221154	hgsc.bcm.edu	37	13	22178258	22178258	+	Silent	SNP	C	C	T	rs9509812	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr13:22178258C>T	ENST00000382374.4	-	1	95	c.30G>A	c.(28-30)cgG>cgA	p.R10R		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	10	Ala-rich.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										AGGCCGCCACCCGCGCGCAGC	0.751													C|||	455	0.0908546	0.0113	0.1441	5008	,	,		12694	0.002		0.2545	False		,,,				2504	0.0838				p.R10R		.											.	EFHA1-90	0			c.G30A						.	C		108,3144		5,98,1523	3.0	3.0	3.0		30	-1.6	0.0	13	dbSNP_119	3	1216,5514		95,1026,2244	no	coding-synonymous	EFHA1	NM_152726.2		100,1124,3767	TT,TC,CC		18.0684,3.321,13.2639		10/435	22178258	1324,8658	1626	3365	4991	SO:0001819	synonymous_variant	221154	exon1			CGCCACCCGCGCG	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.30G>A	13.37:g.22178258C>T		0	0		9	9	NM_152726	0	0	0	6	6	Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	CCDS9297.1																																																																																			C|0.873;T|0.127		0.751	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726	
SACS	26278	hgsc.bcm.edu;bcgsc.ca	37	13	23906646	23906646	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr13:23906646T>A	ENST00000382292.3	-	9	11642	c.11369A>T	c.(11368-11370)cAg>cTg	p.Q3790L	SACS_ENST00000382298.3_Missense_Mutation_p.Q3790L|SACS_ENST00000402364.1_Missense_Mutation_p.Q3040L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3790					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCCTCGCAACTGAAAACGAAA	0.378																																					p.Q3790L		.											.	SACS-298	0			c.A11369T						.						95.0	87.0	90.0					13																	23906646		2203	4299	6502	SO:0001583	missense	26278	exon10			CGCAACTGAAAAC	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11369A>T	13.37:g.23906646T>A	ENSP00000371729:p.Gln3790Leu	111	0		70	4	NM_014363	0	0	1	1	0	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	13.16	2.152999	0.38021	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88277	-2.22;-2.36;-2.22	5.67	5.67	0.87782	.	0.058221	0.64402	D	0.000002	T	0.81645	0.4866	L	0.29908	0.895	0.44603	D	0.997572	P	0.38335	0.627	B	0.29598	0.104	T	0.82402	-0.0475	10	0.42905	T	0.14	.	15.9137	0.79491	0.0:0.0:0.0:1.0	.	3790	Q9NZJ4	SACS_HUMAN	L	3790;3040;3790	ENSP00000371729:Q3790L;ENSP00000385844:Q3040L;ENSP00000371735:Q3790L	ENSP00000371729:Q3790L	Q	-	2	0	SACS	22804646	1.000000	0.71417	0.996000	0.52242	0.206000	0.24218	6.221000	0.72243	2.159000	0.67721	0.383000	0.25322	CAG	.		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
PABPC3	5042	bcgsc.ca	37	13	25671027	25671027	+	Missense_Mutation	SNP	A	A	G	rs78826513	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr13:25671027A>G	ENST00000281589.3	+	1	728	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	231	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGAAAATCCAAAGGATTTGG	0.418																																					p.K231E		.											.	PABPC3-72	0			c.A691G						.						81.0	76.0	78.0					13																	25671027		2203	4300	6503	SO:0001583	missense	5042	exon1			AAATCCAAAGGAT	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.691A>G	13.37:g.25671027A>G	ENSP00000281589:p.Lys231Glu	102	1		77	6	NM_030979	0	0	158	158	0	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631048	0.46944	.	.	ENSG00000151846	ENST00000281589	T	0.08807	3.05	0.993	0.993	0.19825	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.49916	U	0.000136	T	0.27063	0.0663	M	0.90198	3.095	0.34162	D	0.668825	D	0.65815	0.995	D	0.67725	0.953	T	0.36553	-0.9743	10	0.87932	D	0	.	6.1165	0.20130	1.0:0.0:0.0:0.0	.	231	Q9H361	PABP3_HUMAN	E	231	ENSP00000281589:K231E	ENSP00000281589:K231E	K	+	1	0	PABPC3	24569027	0.998000	0.40836	0.994000	0.49952	0.967000	0.64934	2.374000	0.44274	0.692000	0.31613	0.374000	0.22700	AAA	A|0.500;G|0.500		0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
FRY	10129	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	13	32810275	32810275	+	Silent	SNP	T	T	C			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr13:32810275T>C	ENST00000380250.3	+	43	6272	c.5776T>C	c.(5776-5778)Ttg>Ctg	p.L1926L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1926						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTCTGACTGCTTGAAGAACAG	0.438																																					p.L1926L		.											.	FRY-142	0			c.T5776C						.						141.0	136.0	138.0					13																	32810275		1922	4141	6063	SO:0001819	synonymous_variant	10129	exon43			GACTGCTTGAAGA	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5776T>C	13.37:g.32810275T>C		116	0		98	7	NM_023037	0	0	5	5	0	Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1																																																																																			.		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr13:50235160G>C	ENST00000242827.6	-	4	615	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	189					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418																																					p.L189V	NSCLC(39;857 1083 36109 42364 51411)	.											.	EBPL-90	9	Substitution - Missense(9)	endometrium(6)|kidney(3)	c.C565G						.						67.0	67.0	67.0					13																	50235160		2203	4300	6503	SO:0001583	missense	84650	exon4			GTTCTAGCCATGA	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.565C>G	13.37:g.50235160G>C	ENSP00000242827:p.Leu189Val	139	1		102	3	NM_032565	0	0	72	72	0	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	3.076	-0.189988	0.06299	.	.	ENSG00000123179	ENST00000242827	D	0.97850	-4.57	5.61	2.84	0.33178	.	0.689671	0.14945	N	0.289287	D	0.88179	0.6367	N	0.00621	-1.32	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.79482	-0.1785	10	0.25751	T	0.34	-0.2032	8.3049	0.32036	0.0:0.4998:0.3595:0.1406	.	189	Q9BY08	EBPL_HUMAN	V	189	ENSP00000242827:L189V	ENSP00000242827:L189V	L	-	1	2	EBPL	49133161	0.000000	0.05858	0.303000	0.25071	0.899000	0.52679	-1.071000	0.03437	0.397000	0.25310	-0.127000	0.14921	CTA	.		0.418	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565	
UGGT2	55757	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	13	96579505	96579505	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr13:96579505C>A	ENST00000376747.3	-	18	2133	c.2063G>T	c.(2062-2064)cGt>cTt	p.R688L		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	688					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CTGGTTAGTACGCAAAATCAA	0.289																																					p.R688L		.											.	UGGT2-92	0			c.G2063T						.						72.0	74.0	73.0					13																	96579505		2202	4294	6496	SO:0001583	missense	55757	exon18			TTAGTACGCAAAA	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2063G>T	13.37:g.96579505C>A	ENSP00000365938:p.Arg688Leu	225	0		137	6	NM_020121	0	0	0	0	0	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	c	5.889	0.348126	0.11126	.	.	ENSG00000102595	ENST00000376747	T	0.29655	1.56	5.95	0.777	0.18538	.	0.579374	0.20664	N	0.087963	T	0.13243	0.0321	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	10	0.54805	T	0.06	1.3507	5.5367	0.17016	0.0:0.4758:0.1817:0.3424	.	688	Q9NYU1	UGGG2_HUMAN	L	688	ENSP00000365938:R688L	ENSP00000365938:R688L	R	-	2	0	UGGT2	95377506	0.001000	0.12720	0.001000	0.08648	0.206000	0.24218	0.344000	0.19962	0.139000	0.18822	-0.295000	0.09555	CGT	.		0.289	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)gaafs	p.E1294fs	CDH24_ENST00000487137.2_5'Flank|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.1294_1294del		.											.	ACIN1-156	0			c.3880_3881del						.																																			SO:0001589	frameshift_variant	22985	exon19			TCCCTTTCTCTCT	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3880_3881delGA	14.37:g.23528512_23528513delTC	ENSP00000262710:p.Glu1294fs	114	0	764	76	8	NM_014977	0	0	0	0	0	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Del	DEL	ENST00000262710.1	37	CCDS9587.1																																																																																			.		0.629	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
NDUFB1	4707	bcgsc.ca	37	14	92588002	92588002	+	5'UTR	SNP	T	T	G	rs3818263	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr14:92588002T>G	ENST00000553514.1	-	0	66				NDUFB1_ENST00000555441.1_5'Flank|NDUFB1_ENST00000329559.3_Silent_p.V40V|NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000556555.1_5'UTR|CPSF2_ENST00000298875.4_5'Flank			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa						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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		CCTCAGCGCCTACAGCGACCC	0.711													G|||	2703	0.539736	0.5514	0.379	5008	,	,		10980	0.8552		0.334	False		,,,				2504	0.5245				p.V40V		.											.	NDUFB1-90	0			c.A120C						.	G		2232,2174		573,1086,544	33.0	39.0	37.0		120	-7.0	0.0	14	dbSNP_107	37	2915,5681		489,1937,1872	no	coding-synonymous	NDUFB1	NM_004545.3		1062,3023,2416	GG,GT,TT		33.9111,49.3418,39.5862		40/106	92588002	5147,7855	2203	4298	6501	SO:0001623	5_prime_UTR_variant	4707	exon1			AGCGCCTACAGCG	BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"""Mitochondrial respiratory chain complex / Complex I"""	7695	protein-coding gene	gene with protein product	"""complex I MNLL subunit"""	603837	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"""			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000553514.1:c.-140A>C	14.37:g.92588002T>G		163	0		115	6	NM_004545	0	0	443	443	0	A0AV68	Silent	SNP	ENST00000553514.1	37																																																																																				T|0.520;G|0.480		0.711	NDUFB1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412116.2	NM_004545	
ARNT2	9915	bcgsc.ca	37	15	80884025	80884025	+	Missense_Mutation	SNP	G	G	A	rs4072568	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr15:80884025G>A	ENST00000303329.4	+	18	2200	c.2035G>A	c.(2035-2037)Ggt>Agt	p.G679S	ARNT2_ENST00000533983.1_Missense_Mutation_p.G668S|ARNT2_ENST00000527771.1_Missense_Mutation_p.G668S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	679			G -> S (in dbSNP:rs4072568). {ECO:0000269|PubMed:9205841}.		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)			CCAGCAGCCCGGTCAGACTGA	0.637													G|||	561	0.112021	0.1377	0.1066	5008	,	,		18357	0.003		0.166	False		,,,				2504	0.138				p.G679S		.											.	ARNT2-175	0			c.G2035A						.	G	SER/GLY	602,3804	263.8+/-265.7	33,536,1634	111.0	107.0	108.0		2035	1.7	1.0	15	dbSNP_108	108	1684,6916	309.4+/-309.4	182,1320,2798	yes	missense	ARNT2	NM_014862.3	56	215,1856,4432	AA,AG,GG		19.5814,13.6632,17.5765	benign	679/718	80884025	2286,10720	2203	4300	6503	SO:0001583	missense	9915	exon18			CAGCCCGGTCAGA	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.2035G>A	15.37:g.80884025G>A	ENSP00000307479:p.Gly679Ser	221	1		152	6	NM_014862	0	0	2	2	0	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	239	0.10943223443223443	72	0.14634146341463414	45	0.12430939226519337	0	0.0	122	0.16094986807387862	G	10.84	1.462974	0.26248	0.136632	0.195814	ENSG00000172379	ENST00000360062;ENST00000303329	T	0.03920	3.76	5.07	1.74	0.24563	.	0.276124	0.39274	N	0.001420	T	0.00012	0.0000	N	0.02011	-0.69	0.35400	P	0.20852800000000005	B	0.06786	0.001	B	0.06405	0.002	T	0.46992	-0.9151	9	0.11794	T	0.64	.	6.8547	0.24034	0.4281:0.0:0.5719:0.0	rs4072568;rs17608916;rs52827902;rs56876472;rs4072568	679	Q9HBZ2	ARNT2_HUMAN	S	668;679	ENSP00000307479:G679S	ENSP00000307479:G679S	G	+	1	0	ARNT2	78671080	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	2.649000	0.46656	0.533000	0.28675	0.313000	0.20887	GGT	G|0.856;A|0.144		0.637	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
SRRM2	23524	broad.mit.edu	37	16	2820442	2820442	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr16:2820442A>G	ENST00000301740.8	+	13	8660	c.8111A>G	c.(8110-8112)cAg>cGg	p.Q2704R	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2704	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						CCCTCGCCCCAGCCCTCACCA	0.637																																					p.Q2704R		.											.	SRRM2-93	0			c.A8111G						.						25.0	22.0	23.0					16																	2820442		2197	4299	6496	SO:0001583	missense	23524	exon13			CGCCCCAGCCCTC	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.8111A>G	16.37:g.2820442A>G	ENSP00000301740:p.Gln2704Arg	103	0		104	3	NM_016333	0	0	327	327	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	3.993	-0.003993	0.07773	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000382300	T	0.27720	1.65	5.31	5.31	0.75309	.	0.110995	0.40818	N	0.001002	T	0.17916	0.0430	N	0.19112	0.55	0.26920	N	0.96671	B	0.33694	0.421	B	0.27500	0.08	T	0.14755	-1.0461	10	0.46703	T	0.11	-10.3699	9.4472	0.38703	0.8212:0.1788:0.0:0.0	.	2704	Q9UQ35	SRRM2_HUMAN	R	2704;2286;185	ENSP00000301740:Q2704R	ENSP00000301740:Q2704R	Q	+	2	0	SRRM2	2760443	1.000000	0.71417	0.997000	0.53966	0.693000	0.40251	3.275000	0.51639	2.018000	0.59344	0.533000	0.62120	CAG	.		0.637	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
ARMC5	79798	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	31477224	31477224	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr16:31477224delG	ENST00000563544.1	+	6	2464	c.1918delG	c.(1918-1920)gggfs	p.G640fs	ARMC5_ENST00000268314.4_Frame_Shift_Del_p.G640fs|ARMC5_ENST00000408912.3_Frame_Shift_Del_p.G735fs|ARMC5_ENST00000412665.2_Frame_Shift_Del_p.G284fs|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000538189.1_Frame_Shift_Del_p.G672fs			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	640										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTTTGGGGTTGGGGCCCTGAC	0.637																																					p.G640fs		.											.	ARMC5-24	0			c.1918delG						.						41.0	50.0	47.0					16																	31477224		2182	4289	6471	SO:0001589	frameshift_variant	79798	exon5			GGGGTTGGGGCCC	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.1918delG	16.37:g.31477224delG	ENSP00000456877:p.Gly640fs	49	0		55	24	NM_001105247	0	0	0	0	0	Q86WM9|Q9H7P8|Q9H925	Frame_Shift_Del	DEL	ENST00000563544.1	37	CCDS45472.1																																																																																			.		0.637	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742	
KIFC3	3801	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	57793684	57793684	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr16:57793684G>A	ENST00000379655.4	-	18	2689	c.2432C>T	c.(2431-2433)aCc>aTc	p.T811I	KIFC3_ENST00000543930.1_Missense_Mutation_p.T669I|KIFC3_ENST00000562903.1_Missense_Mutation_p.T672I|KIFC3_ENST00000465878.2_Missense_Mutation_p.T672I|KIFC3_ENST00000541240.1_Missense_Mutation_p.T833I|KIFC3_ENST00000540079.2_Missense_Mutation_p.T709I|KIFC3_ENST00000539578.1_Missense_Mutation_p.T753I|KIFC3_ENST00000421376.2_Missense_Mutation_p.T672I|KIFC3_ENST00000445690.2_Missense_Mutation_p.T811I	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	811					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GCGGCTACTGGTCCCAGAGCT	0.692																																					p.T811I		.											.	KIFC3-91	0			c.C2432T						.						23.0	28.0	26.0					16																	57793684		2198	4300	6498	SO:0001583	missense	3801	exon18			CTACTGGTCCCAG	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.2432C>T	16.37:g.57793684G>A	ENSP00000368976:p.Thr811Ile	105	0		130	7	NM_001130100	0	0	20	20	0	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039475	0.19669	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.74737	-0.82;-0.82;-0.79;-0.83;-0.79;-0.87;-0.79	5.52	4.57	0.56435	.	1.500450	0.03634	N	0.238368	T	0.61949	0.2388	N	0.12182	0.205	0.26568	N	0.973618	B;B;B;B;B;B	0.17038	0.008;0.012;0.001;0.003;0.02;0.001	B;B;B;B;B;B	0.20955	0.006;0.032;0.004;0.013;0.004;0.006	T	0.52117	-0.8618	10	0.51188	T	0.08	.	8.0505	0.30575	0.1901:0.0:0.8099:0.0	.	833;753;669;709;811;672	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	I	811;811;672;833;709;669;753	ENSP00000368976:T811I;ENSP00000401696:T811I;ENSP00000396399:T672I;ENSP00000442008:T833I;ENSP00000438805:T709I;ENSP00000444012:T669I;ENSP00000444884:T753I	ENSP00000368976:T811I	T	-	2	0	KIFC3	56351185	0.497000	0.26067	0.066000	0.19879	0.221000	0.24807	2.643000	0.46604	1.338000	0.45544	0.555000	0.69702	ACC	.		0.692	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550	
CSNK2A2	1459	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	58200519	58200519	+	Silent	SNP	G	G	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr16:58200519G>A	ENST00000262506.3	-	9	979	c.796C>T	c.(796-798)Cta>Tta	p.L266L	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						TGTGGATCTAGGTCTATGTGA	0.428																																					p.L266L	Melanoma(54;119 1219 18349 35700 39738)	.											.	CSNK2A2-790	0			c.C796T						.						241.0	198.0	213.0					16																	58200519		2198	4300	6498	SO:0001819	synonymous_variant	1459	exon9			GATCTAGGTCTAT	M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.796C>T	16.37:g.58200519G>A		121	1		130	58	NM_001896	0	0	16	23	7		Silent	SNP	ENST00000262506.3	37	CCDS10794.1																																																																																			.		0.428	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896	
KCNG4	93107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	84271024	84271024	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr16:84271024C>G	ENST00000308251.4	-	2	136	c.68G>C	c.(67-69)tGg>tCg	p.W23S	KCNG4_ENST00000568181.1_Missense_Mutation_p.W23S	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	23					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)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GAGCTGACTCCAAGGGCTGTG	0.632																																					p.W23S		.											.	KCNG4-93	0			c.G68C						.						47.0	51.0	49.0					16																	84271024		2200	4300	6500	SO:0001583	missense	93107	exon2			TGACTCCAAGGGC	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.68G>C	16.37:g.84271024C>G	ENSP00000312129:p.Trp23Ser	70	0		86	26	NM_172347	0	0	0	0	0	Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	5.462	0.270228	0.10349	.	.	ENSG00000168418	ENST00000308251	D	0.96200	-3.94	4.42	2.19	0.27852	.	1.387460	0.04407	N	0.365346	D	0.89406	0.6706	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.001	T	0.78743	-0.2085	10	0.19590	T	0.45	.	6.216	0.20656	0.7425:0.1705:0.0871:0.0	.	23;23	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	S	23	ENSP00000312129:W23S	ENSP00000312129:W23S	W	-	2	0	KCNG4	82828525	0.998000	0.40836	0.001000	0.08648	0.020000	0.10135	3.380000	0.52448	0.266000	0.21894	-0.425000	0.05940	TGG	.		0.632	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347	
C17orf97	400566	hgsc.bcm.edu	37	17	263682	263682	+	Missense_Mutation	SNP	G	G	A	rs181299622		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:263682G>A	ENST00000360127.6	+	2	1064	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	380	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCGAGGCCCTCAA	0.687																																					p.E350K		.											.	C17orf97-91	0			c.G1048A						.						16.0	22.0	20.0					17																	263682		1742	3568	5310	SO:0001583	missense	400566	exon2			GACCCCGAGGCCC	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1048G>A	17.37:g.263682G>A	ENSP00000353245:p.Glu350Lys	84	0		113	6	NM_001013672	0	0	52	70	18	A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	CCDS32519.2	49	0.022435897435897436	17	0.034552845528455285	7	0.019337016574585635	14	0.024475524475524476	11	0.014511873350923483	G	0.012	-1.652098	0.00785	.	.	ENSG00000187624	ENST00000360127	T	0.31247	1.5	2.05	-4.1	0.03940	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.21520	0.057	B	0.06405	0.002	T	0.18304	-1.0341	9	0.06891	T	0.86	.	1.6079	0.02687	0.4397:0.2798:0.1518:0.1287	.	350	Q6ZQX7-4	.	K	350	ENSP00000353245:E350K	ENSP00000353245:E350K	E	+	1	0	C17orf97	264028	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.613000	0.02059	-2.563000	0.00472	-0.974000	0.02594	GAG	G|0.978;A|0.022		0.687	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672	
GLTPD2	388323	hgsc.bcm.edu	37	17	4693342	4693342	+	Missense_Mutation	SNP	C	C	A	rs35910358	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:4693342C>A	ENST00000331264.7	+	4	680	c.627C>A	c.(625-627)gaC>gaA	p.D209E		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	209				D -> E (in Ref. 2; AAI50537). {ECO:0000305}.		cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GAGGCCCGGACGCGGGCGTGC	0.761													C|||	4904	0.979233	0.9228	1.0	5008	,	,		11019	1.0		0.998	False		,,,				2504	1.0				p.D209E		.											.	GLTPD2-68	0			c.C627A						.	C	GLU/ASP	2706,78		1314,78,0	2.0	2.0	2.0		627	0.2	0.1	17	dbSNP_126	2	6028,0		3014,0,0	no	missense	GLTPD2	NM_001014985.2	45	4328,78,0	AA,AC,CC		0.0,2.8017,0.8852	benign	209/292	4693342	8734,78	1392	3014	4406	SO:0001583	missense	388323	exon4			CCCGGACGCGGGC	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.627C>A	17.37:g.4693342C>A	ENSP00000328070:p.Asp209Glu	0	0		5	5	NM_001014985	0	0	0	0	0	A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	CCDS32534.1	2151	0.9848901098901099	466	0.9471544715447154	362	1.0	572	1.0	751	0.9907651715039578	C	9.155	1.017148	0.19355	0.971983	1.0	ENSG00000182327	ENST00000331264	.	.	.	4.58	0.162	0.14981	Glycolipid transfer protein domain (3);	.	.	.	.	T	0.00012	0.0000	L	0.41027	1.25	0.80722	P	0.0	B	0.22080	0.064	B	0.31614	0.133	T	0.34650	-0.9820	7	0.12103	T	0.63	-20.1635	5.889	0.18897	0.0:0.5269:0.298:0.1751	rs35910358	209	A6NH11	GLTD2_HUMAN	E	209	.	ENSP00000328070:D209E	D	+	3	2	GLTPD2	4640082	0.004000	0.15560	0.082000	0.20525	0.081000	0.17604	0.011000	0.13264	-0.068000	0.12953	0.555000	0.69702	GAC	C|0.015;A|0.985		0.761	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985	
POLR2A	5430	bcgsc.ca	37	17	7399866	7399866	+	Silent	SNP	G	G	A	rs2301609	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:7399866G>A	ENST00000322644.6	+	4	870	c.471G>A	c.(469-471)ggG>ggA	p.G157G	POLR2A_ENST00000572844.1_Silent_p.G157G	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	157					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)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCGAGGGTGGGGAGGAGATGG	0.532													G|||	859	0.171526	0.2186	0.0994	5008	,	,		19352	0.0278		0.1849	False		,,,				2504	0.2935				p.G157G		.											.	POLR2A-91	0			c.G471A						.	G		913,3493	352.8+/-311.9	90,733,1380	143.0	148.0	146.0		471	-0.5	1.0	17	dbSNP_100	146	1798,6802	323.7+/-316.1	221,1356,2723	no	coding-synonymous	POLR2A	NM_000937.4		311,2089,4103	AA,AG,GG		20.907,20.7217,20.8442		157/1971	7399866	2711,10295	2203	4300	6503	SO:0001819	synonymous_variant	5430	exon4			GGGTGGGGAGGAG			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.471G>A	17.37:g.7399866G>A		199	2		203	7	NM_000937	0	0	2	2	0	A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	CCDS32548.1																																																																																			G|0.810;A|0.190		0.532	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
C17orf96	100170841	hgsc.bcm.edu	37	17	36830459	36830459	+	Missense_Mutation	SNP	G	G	A	rs111565436	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:36830459G>A	ENST00000325814.5	-	1	728	c.290C>T	c.(289-291)cCc>cTc	p.P97L		NM_001130677.1	NP_001124149.1	A6NHQ4	CQ096_HUMAN	chromosome 17 open reading frame 96	97	Pro-rich.				neuron fate commitment (GO:0048663)												AGGAACGCCGGGCCGCCCGGT	0.776													G|||	1323	0.264177	0.5272	0.1671	5008	,	,		10122	0.0942		0.1789	False		,,,				2504	0.2403				p.P97L		.											.	.	0			c.C290T						.						2.0	3.0	3.0					17																	36830459		485	1247	1732	SO:0001583	missense	100170841	exon1			ACGCCGGGCCGCC		CCDS45661.1	17q12	2014-04-17			ENSG00000179294	ENSG00000273604			34493	protein-coding gene	gene with protein product	"""proline rich 28"""					24550272	Standard	NM_001130677		Approved	LOC100170841, PRR28	uc010wdq.2	A6NHQ4	OTTHUMG00000188495	ENST00000325814.5:c.290C>T	17.37:g.36830459G>A	ENSP00000317905:p.Pro97Leu	0	0		5	5	NM_001130677	0	0	0	0	0		Missense_Mutation	SNP	ENST00000325814.5	37	CCDS45661.1	546	0.25	273	0.5548780487804879	71	0.19613259668508287	65	0.11363636363636363	137	0.18073878627968337	G	12.55	1.970645	0.34754	.	.	ENSG00000179294	ENST00000325814	.	.	.	3.57	1.42	0.22433	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.24426	0.103	B	0.25405	0.06	T	0.43782	-0.9370	7	0.87932	D	0	.	6.42	0.21738	0.0:0.2024:0.589:0.2087	.	97	A6NHQ4	CQ096_HUMAN	L	97	.	ENSP00000317905:P97L	P	-	2	0	C17orf96	34083985	0.001000	0.12720	0.308000	0.25141	0.049000	0.14656	0.571000	0.23669	0.121000	0.18284	0.313000	0.20887	CCC	G|0.750;A|0.250		0.776	C17orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255465.2	NM_001130677	
BTBD17	388419	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	72356326	72356326	+	Silent	SNP	C	C	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:72356326C>T	ENST00000375366.3	-	2	270	c.144G>A	c.(142-144)gcG>gcA	p.A48A		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	48					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						GCTGGAGCACCGCCTGGGAGT	0.657																																					p.A48A		.											.	BTBD17-22	0			c.G144A						.						20.0	20.0	20.0					17																	72356326		2203	4298	6501	SO:0001819	synonymous_variant	388419	exon2			GAGCACCGCCTGG		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.144G>A	17.37:g.72356326C>T		163	1		228	96	NM_001080466	0	0	0	0	0		Silent	SNP	ENST00000375366.3	37	CCDS32719.1																																																																																			.		0.657	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466	
LLGL2	3993	broad.mit.edu	37	17	73565071	73565071	+	Silent	SNP	C	C	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:73565071C>A	ENST00000392550.3	+	13	1452	c.1335C>A	c.(1333-1335)ggC>ggA	p.G445G	LLGL2_ENST00000577200.1_Silent_p.G445G|LLGL2_ENST00000167462.5_Silent_p.G445G	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	445					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACGAGGACGGCACGGTGCGGT	0.667																																					p.G445G		.											.	LLGL2-251	0			c.C1335A						.						41.0	42.0	41.0					17																	73565071		2203	4300	6503	SO:0001819	synonymous_variant	3993	exon13			GGACGGCACGGTG	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1335C>A	17.37:g.73565071C>A		70	2		81	11	NM_004524	0	0	0	0	0	Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	CCDS32733.1																																																																																			.		0.667	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524	
DNAH17	8632	broad.mit.edu	37	17	76433833	76433833	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr17:76433833C>T	ENST00000585328.1	-	74	12032	c.11908G>A	c.(11908-11910)Gag>Aag	p.E3970K	DNAH17_ENST00000389840.5_Missense_Mutation_p.E3969K|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3969	AAA 6. {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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGTGGGTCTCGGGGCTGGGG	0.637																																					p.E3975K		.											.	DNAH17-142	0			c.G11923A						.						54.0	51.0	52.0					17																	76433833		2203	4299	6502	SO:0001583	missense	8632	exon74			GGGTCTCGGGGCT	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11908G>A	17.37:g.76433833C>T	ENSP00000465516:p.Glu3970Lys	95	1		102	4	NM_173628	0	0	0	0	0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	13.03	2.114307	0.37339	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.24151	1.87	5.22	5.22	0.72569	.	2.153880	0.01959	N	0.043216	T	0.39911	0.1096	M	0.70108	2.13	0.40760	D	0.982993	B	0.28933	0.228	B	0.28784	0.094	T	0.43653	-0.9378	10	0.25751	T	0.34	.	18.7837	0.91946	0.0:1.0:0.0:0.0	.	3970	E7EUM8	.	K	3970;3969	ENSP00000374490:E3969K	ENSP00000300671:E3970K	E	-	1	0	DNAH17	73945428	0.996000	0.38824	0.985000	0.45067	0.447000	0.32167	3.725000	0.54970	2.432000	0.82394	0.561000	0.74099	GAG	.		0.637	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
ZNF271	10778	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	32886662	32886662	+	RNA	SNP	A	A	G			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr18:32886662A>G	ENST00000399070.3	+	0	1056					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						GGGAGAAACCATATCCATGTA	0.403																																					.		.											.	ZNF271-90	0			.						.						67.0	70.0	69.0					18																	32886662		2203	4300	6503			10778	.			GAAACCATATCCA	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.32886662A>G		50	0		37	27	.	0	0	0	6	6	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	ENST00000399070.3	37																																																																																				.		0.403	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565	
WDR7	23335	broad.mit.edu	37	18	54424373	54424373	+	Missense_Mutation	SNP	G	G	C	rs200902295		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr18:54424373G>C	ENST00000254442.3	+	15	2760	c.2549G>C	c.(2548-2550)gGt>gCt	p.G850A	WDR7_ENST00000357574.3_Missense_Mutation_p.G850A|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	850					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ATGCTGCCGGGTTATAATCAG	0.512																																					p.G850A		.											.	WDR7-93	0			c.G2549C						.						154.0	136.0	142.0					18																	54424373		2203	4300	6503	SO:0001583	missense	23335	exon15			TGCCGGGTTATAA	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2549G>C	18.37:g.54424373G>C	ENSP00000254442:p.Gly850Ala	228	2		173	4	NM_052834	0	0	0	0	0	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826720	0.32329	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.68479	-0.26;-0.33	5.86	5.86	0.93980	.	0.112240	0.64402	D	0.000006	T	0.73225	0.3560	L	0.49126	1.545	0.44668	D	0.997654	D;B	0.59357	0.985;0.088	P;B	0.53722	0.733;0.034	T	0.69518	-0.5124	10	0.34782	T	0.22	.	19.797	0.96490	0.0:0.0:1.0:0.0	.	850;850	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	A	850;850;175;850	ENSP00000254442:G850A;ENSP00000350187:G850A	ENSP00000254442:G850A	G	+	2	0	WDR7	52575371	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.402000	0.66332	2.776000	0.95493	0.655000	0.94253	GGT	G|0.999;C|0.001		0.512	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
TCF3	6929	hgsc.bcm.edu	37	19	1619339	1619339	+	Silent	SNP	T	T	C	rs8140	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:1619339T>C	ENST00000262965.5	-	15	1646	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	TCF3_ENST00000453954.2_Silent_p.S350S|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.S383S|TCF3_ENST00000588136.1_Silent_p.S434S|TCF3_ENST00000344749.5_Silent_p.S434S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|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)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GCCCGCCCAGTGACATGGGGC	0.746			T	"""PBX1, HLF, TFPT"""	pre B-ALL								C|||	3124	0.623802	0.7723	0.5187	5008	,	,		13680	0.8839		0.3658	False		,,,				2504	0.4949				p.S434S		.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	TCF3-721	0			c.A1302G						.	C	,	3016,1346		1071,874,236	11.0	14.0	13.0		1302,1302	-7.1	0.0	19	dbSNP_52	13	3268,5190		653,1962,1614	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	1724,2836,1850	CC,CT,TT		38.638,30.8574,49.0172	,	434/652,434/655	1619339	6284,6536	2181	4229	6410	SO:0001819	synonymous_variant	6929	exon15			GCCCAGTGACATG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1302A>G	19.37:g.1619339T>C		0	0		7	4	NM_003200	0	0	7	7	0	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																			T|0.403;C|0.597		0.746	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200	
DOHH	83475	hgsc.bcm.edu	37	19	3492318	3492318	+	Silent	SNP	G	G	C	rs78287632	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:3492318G>C	ENST00000427575.1	-	4	982	c.531C>G	c.(529-531)cgC>cgG	p.R177R	DOHH_ENST00000250937.3_Silent_p.R177R	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAACATGGCGCGGTATCGCT	0.741													G|||	93	0.0185703	0.0227	0.013	5008	,	,		12700	0.0		0.0298	False		,,,				2504	0.0245				p.R177R		.											.	DOHH-90	0			c.C531G						.	G	,	68,4070		0,68,2001	5.0	7.0	6.0		531,531	-7.8	0.8	19	dbSNP_132	6	159,7969		1,157,3906	no	coding-synonymous,coding-synonymous	DOHH	NM_001145165.1,NM_031304.4	,	1,225,5907	CC,CG,GG		1.9562,1.6433,1.8506	,	177/303,177/303	3492318	227,12039	2069	4064	6133	SO:0001819	synonymous_variant	83475	exon4			CATGGCGCGGTAT	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"""HEAT-like (PBS lyase) repeat containing 1"""	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.531C>G	19.37:g.3492318G>C		2	0		26	11	NM_001145165	0	0	6	12	6		Silent	SNP	ENST00000427575.1	37	CCDS12108.1																																																																																			G|0.979;C|0.021		0.741	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304	
FUT3	2525	broad.mit.edu;bcgsc.ca	37	19	5844265	5844265	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:5844265C>T	ENST00000303225.6	-	3	1220	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	FUT3_ENST00000589918.1_Missense_Mutation_p.A196T|FUT3_ENST00000589620.1_Missense_Mutation_p.A196T|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.A196T	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	196					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TTGGACACCGCCCAGGCCACC	0.667																																					p.A196T	Esophageal Squamous(82;745 1728 24593 44831)	.											.	FUT3-90	0			c.G586A						.						39.0	41.0	40.0					19																	5844265		2203	4300	6503	SO:0001583	missense	2525	exon3			ACACCGCCCAGGC		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.586G>A	19.37:g.5844265C>T	ENSP00000305603:p.Ala196Thr	204	1		217	66	NM_001097640	0	0	0	0	0	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750265	0.15778	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.23348	1.91;1.91	2.2	2.2	0.27929	.	0.677919	0.13004	N	0.421399	T	0.19248	0.0462	L	0.31752	0.955	0.24531	N	0.994113	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.14578	0.011;0.005;0.005;0.005	T	0.20009	-1.0288	10	0.54805	T	0.06	.	10.498	0.44789	0.0:1.0:0.0:0.0	.	196;196;196;196	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	T	196	ENSP00000305603:A196T;ENSP00000416443:A196T	ENSP00000305603:A196T	A	-	1	0	FUT3	5795265	0.966000	0.33281	0.978000	0.43139	0.069000	0.16628	1.959000	0.40412	1.163000	0.42636	0.194000	0.17425	GCG	.		0.667	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149	
PGLS	25796	hgsc.bcm.edu	37	19	17622614	17622614	+	Silent	SNP	C	C	T	rs11086075	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2.0	2.0	2.0		133	2.6	1.0	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		2	0		6	5	NM_012088	0	0	9	13	4		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1		
HAPLN4	404037	hgsc.bcm.edu	37	19	19373528	19373553	+	Start_Codon_Del	DEL	GCCCCACTTACCATCTTGCCCGCGCG	GCCCCACTTACCATCTTGCCCGCGCG	-	rs140808775	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	GCCCCACTTACCATCTTGCCCGCGCG	GCCCCACTTACCATCTTGCCCGCGCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:19373528_19373553delGCCCCACTTACCATCTTGCCCGCGCG	ENST00000291481.7	-	0	52_67				AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4						cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CGCGCCCGCAGCCCCACTTACCATCTTgcccgcgcggcccccgccg	0.642																																							.											.	HAPLN4-91	0									.																																			SO:0001582	initiator_codon_variant	404037	wholegene			CCCGCAGCCCCAC	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8			19.37:g.19373528_19373553delGCCCCACTTACCATCTTGCCCGCGCG		37	0		70	19	NM_023002	0	0	0	0	0	A5PKW5|Q96PW2	Frame_Shift_Del	DEL	ENST00000291481.7	37	CCDS12398.1																																																																																			.		0.642	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002	
FBXO17	115290	hgsc.bcm.edu	37	19	39440918	39440918	+	Silent	SNP	T	T	C	rs2304117	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	CTC-360G5.8_ENST00000599996.1_5'Flank|SARS2_ENST00000448145.2_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3.0	4.0	3.0		42,69	0.5	0.0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		0	0		7	7	NM_148169	0	0	0	2	2	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907	
ZNF229	7772	broad.mit.edu;bcgsc.ca	37	19	44933163	44933163	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:44933163C>G	ENST00000588931.1	-	6	2226	c.1793G>C	c.(1792-1794)aGg>aCg	p.R598T	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.R592T|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	598					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(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CACGTAGGGCCTCTCTCCCGT	0.542																																					p.R598T		.											.	ZNF229-94	0			c.G1793C						.						61.0	67.0	65.0					19																	44933163		2187	4294	6481	SO:0001583	missense	7772	exon6			TAGGGCCTCTCTC	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1793G>C	19.37:g.44933163C>G	ENSP00000466519:p.Arg598Thr	111	1		155	7	NM_014518	0	0	10	10	0	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786001	0.49997	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	-0.52	0.11935	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35248	0.0925	L	0.35249	1.045	0.23653	N	0.997192	P	0.47841	0.901	P	0.52823	0.71	T	0.24621	-1.0155	8	0.66056	D	0.02	.	6.9632	0.24610	0.0:0.4373:0.0:0.5627	.	598	Q9UJW7	ZN229_HUMAN	T	598	.	ENSP00000291187:R598T	R	-	2	0	ZNF229	49625003	0.001000	0.12720	0.012000	0.15200	0.575000	0.36095	-0.399000	0.07250	0.121000	0.18284	0.609000	0.83330	AGG	.		0.542	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
LMTK3	114783	broad.mit.edu	37	19	49004261	49004261	+	Silent	SNP	C	C	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:49004261C>T	ENST00000600059.1	-	10	1370	c.1143G>A	c.(1141-1143)gcG>gcA	p.A381A	LMTK3_ENST00000270238.3_Silent_p.A410A			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		ACCAGTAGTCCGCGTAAGGCA	0.682																																					p.A410A		.											.	LMTK3-1357	0			c.G1230A						.						12.0	16.0	15.0					19																	49004261		1967	4121	6088	SO:0001819	synonymous_variant	114783	exon11			GTAGTCCGCGTAA	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1143G>A	19.37:g.49004261C>T		177	0		199	4	NM_001080434	0	0	0	0	0	Q4G0U1	Silent	SNP	ENST00000600059.1	37																																																																																				.		0.682	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895	
NR1H2	7376	hgsc.bcm.edu	37	19	50881825	50881825	+	Silent	SNP	G	G	A	rs55817866	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr19:50881825G>A	ENST00000253727.5	+	6	754	c.519G>A	c.(517-519)caG>caA	p.Q173Q	NR1H2_ENST00000411902.2_Silent_p.Q76Q|NR1H2_ENST00000598168.1_Silent_p.Q173Q|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Silent_p.Q173Q|NR1H2_ENST00000599105.1_Silent_p.Q173Q	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	173					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTCGGAAACAGCAGCAGGAGT	0.637																																					p.Q173Q		.											.	NR1H2-186	0			c.G519A						.						38.0	47.0	44.0					19																	50881825		2140	4249	6389	SO:0001819	synonymous_variant	7376	exon6			GAAACAGCAGCAG	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.519G>A	19.37:g.50881825G>A		100	0		101	6	NM_007121	0	0	0	0	0	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	CCDS42593.1																																																																																			G|0.903;A|0.097		0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2		
DNMT3A	1788	broad.mit.edu	37	2	25469926	25469926	+	Silent	SNP	G	G	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:25469926G>A	ENST00000264709.3	-	9	1453	c.1116C>T	c.(1114-1116)gtC>gtT	p.V372V	DNMT3A_ENST00000321117.5_Silent_p.V372V|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Silent_p.V183V|DNMT3A_ENST00000402667.1_Silent_p.V149V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	372	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACCTGCAGGACCTCGTAGA	0.597			"""Mis, F, N, S"""		AML																																p.V372V		.		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	DNMT3A-1924	0			c.C1116T						.						114.0	81.0	92.0					2																	25469926		2203	4300	6503	SO:0001819	synonymous_variant	1788	exon9			CTGCAGGACCTCG		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1116C>T	2.37:g.25469926G>A		162	1		106	4	NM_175629	0	0	0	0	0	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	CCDS33157.1																																																																																			.		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
DYSF	8291	bcgsc.ca	37	2	71780215	71780215	+	Silent	SNP	T	T	C	rs2303596	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:71780215T>C	ENST00000258104.3	+	20	2104	c.1827T>C	c.(1825-1827)gaT>gaC	p.D609D	DYSF_ENST00000429174.2_Silent_p.D609D|DYSF_ENST00000409366.1_Silent_p.D610D|DYSF_ENST00000410020.3_Silent_p.D627D|DYSF_ENST00000410041.1_Silent_p.D627D|DYSF_ENST00000409651.1_Silent_p.D641D|DYSF_ENST00000394120.2_Silent_p.D610D|DYSF_ENST00000413539.2_Silent_p.D640D|DYSF_ENST00000409582.3_Silent_p.D626D|DYSF_ENST00000409762.1_Silent_p.D626D|DYSF_ENST00000409744.1_Silent_p.D596D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	609					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						ATGTGGATGATGCCATCCAGT	0.562													C|||	2882	0.575479	0.7753	0.6412	5008	,	,		19523	0.2222		0.7336	False		,,,				2504	0.4601				p.D641D		.											.	DYSF-158	0			c.T1923C						.	C	,,,,,,,,,,,,,	3451,955	363.9+/-316.7	1351,749,103	120.0	97.0	105.0		1830,1785,1785,1827,1920,1878,1878,1923,1830,1788,1881,1788,1881,1827	-1.7	0.4	2	dbSNP_100	105	6107,2493	409.6+/-349.9	2178,1751,371	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	,,,,,,,,,,,,,	3529,2500,474	CC,CT,TT		28.9884,21.675,26.5108	,,,,,,,,,,,,,	610/2082,595/2067,595/2088,609/2102,640/2112,626/2098,626/2119,641/2113,610/2103,596/2089,627/2099,596/2068,627/2120,609/2081	71780215	9558,3448	2203	4300	6503	SO:0001819	synonymous_variant	8291	exon21			GGATGATGCCATC	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.1827T>C	2.37:g.71780215T>C		421	4		305	10	NM_001130982	0	0	6	6	0	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																			T|0.328;C|0.672		0.562	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
LRP2	4036	bcgsc.ca	37	2	170096095	170096095	+	Silent	SNP	C	C	G	rs34915742	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:170096095C>G	ENST00000263816.3	-	26	4521	c.4236G>C	c.(4234-4236)cgG>cgC	p.R1412R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1412	EGF-like 6; calcium-binding. {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)"""	CACACGAGCACCGGAAAGAAC	0.433													C|||	266	0.053115	0.1725	0.0202	5008	,	,		18952	0.0		0.004	False		,,,				2504	0.0204				p.R1412R		.											.	LRP2-175	0			c.G4236C						.	C		482,3924	226.5+/-242.0	30,422,1751	143.0	132.0	136.0		4236	-1.6	1.0	2	dbSNP_126	136	55,8545	34.3+/-88.2	1,53,4246	no	coding-synonymous	LRP2	NM_004525.2		31,475,5997	GG,GC,CC		0.6395,10.9396,4.1289		1412/4656	170096095	537,12469	2203	4300	6503	SO:0001819	synonymous_variant	4036	exon26			CGAGCACCGGAAA		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.4236G>C	2.37:g.170096095C>G		248	3		201	7	NM_004525	0	0	0	0	0	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																			C|0.714;G|0.286		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
HOXD4	3233	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	177016766	177016766	+	Silent	SNP	C	C	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:177016766C>A	ENST00000306324.3	+	1	817	c.405C>A	c.(403-405)ccC>ccA	p.P135P	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	135					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TGGTCTACCCCTGGATGAAGA	0.667																																					p.P135P		.											.	HOXD4-91	0			c.C405A						.						38.0	49.0	45.0					2																	177016766		2137	4273	6410	SO:0001819	synonymous_variant	3233	exon1			CTACCCCTGGATG		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.405C>A	2.37:g.177016766C>A		135	0		81	12	NM_014621	0	0	0	0	0	B2R9R3|Q96AU0	Silent	SNP	ENST00000306324.3	37	CCDS2269.1																																																																																			.		0.667	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2		
MARCH4	57574	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	217124357	217124357	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:217124357C>T	ENST00000273067.4	-	4	2677	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	304						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AGCCTGCCACCGTTTAAAGAT	0.552																																					p.R304Q		.											.	MARCH4-69	0			c.G911A						.						75.0	64.0	67.0					2																	217124357		2203	4300	6503	SO:0001583	missense	57574	exon4			TGCCACCGTTTAA	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.911G>A	2.37:g.217124357C>T	ENSP00000273067:p.Arg304Gln	87	0		87	52	NM_020814	0	0	0	0	0	Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	36	5.756478	0.96898	.	.	ENSG00000144583	ENST00000273067	T	0.59906	0.23	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78851	-0.2041	10	0.66056	D	0.02	-3.9764	18.4124	0.90557	0.0:1.0:0.0:0.0	.	304	Q9P2E8	MARH4_HUMAN	Q	304	ENSP00000273067:R304Q	ENSP00000273067:R304Q	R	-	2	0	MARCH4	216832602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.590000	0.87494	0.561000	0.74099	CGG	.		0.552	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814	
TIGD1	200765	hgsc.bcm.edu;broad.mit.edu	37	2	233414422	233414422	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:233414422G>T	ENST00000408957.3	-	1	804	c.171C>A	c.(169-171)ttC>ttA	p.F57L	EIF4E2_ENST00000258416.3_5'Flank|EIF4E2_ENST00000409394.1_5'Flank|EIF4E2_ENST00000409322.1_5'Flank|EIF4E2_ENST00000409098.1_5'Flank|EIF4E2_ENST00000409495.1_5'Flank|EIF4E2_ENST00000409167.3_5'Flank|EIF4E2_ENST00000409514.1_5'Flank|MIR5001_ENST00000580185.1_RNA	NM_145702.1	NP_663748.1	Q96MW7	TIGD1_HUMAN	tigger transposable element derived 1	57	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|skin(1)	2		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;2e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00842)|GBM - Glioblastoma multiforme(43;0.233)		cttccttcaagaacttttcct	0.428																																					p.F57L		.											.	TIGD1-22	0			c.C171A						.						40.0	44.0	43.0					2																	233414422		1327	2309	3636	SO:0001583	missense	200765	exon1			CTTCAAGAACTTT		CCDS2495.1	2q37.1	2011-01-17			ENSG00000221944	ENSG00000221944			14523	protein-coding gene	gene with protein product		612972					Standard	NM_145702		Approved	EEYORE	uc002vsy.2	Q96MW7	OTTHUMG00000133260	ENST00000408957.3:c.171C>A	2.37:g.233414422G>T	ENSP00000386186:p.Phe57Leu	53	0		51	4	NM_145702	0	0	6	6	0	Q6P4D2|Q6PIF9	Missense_Mutation	SNP	ENST00000408957.3	37	CCDS2495.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514061	0.27123	.	.	ENSG00000221944	ENST00000408957	T	0.36699	1.24	0.685	-0.265	0.12946	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	.	.	.	.	T	0.31670	0.0804	L	0.31120	0.905	0.23282	N	0.997983	B	0.29862	0.259	B	0.43386	0.418	T	0.46830	-0.9163	8	0.45353	T	0.12	.	.	.	.	.	57	Q96MW7	TIGD1_HUMAN	L	57	ENSP00000386186:F57L	ENSP00000386186:F57L	F	-	3	2	TIGD1	233122666	0.980000	0.34600	0.986000	0.45419	0.985000	0.73830	0.529000	0.23019	-0.149000	0.11215	-0.142000	0.14014	TTC	.		0.428	TIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257037.1	NM_145702	
MYEOV2	150678	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	241066032	241066032	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr2:241066032G>T	ENST00000307266.3	-	5	706	c.707C>A	c.(706-708)gCt>gAt	p.A236D		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTCTCCACCAGCAACGGATGG	0.458																																					p.A236D		.											.	MYEOV2-68	0			c.C707A						.						139.0	113.0	122.0					2																	241066032		2203	4300	6503	SO:0001583	missense	150678	exon5			CCACCAGCAACGG	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.707C>A	2.37:g.241066032G>T	ENSP00000304147:p.Ala236Asp	195	0		156	9	NM_138336	0	0	0	0	0	Q8N110	Missense_Mutation	SNP	ENST00000307266.3	37	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	G	8.267	0.812402	0.16537	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.05	1.05	0.20165	.	.	.	.	.	T	0.55986	0.1955	.	.	.	0.09310	N	0.999998	D	0.76494	0.999	D	0.76575	0.988	T	0.36792	-0.9733	7	0.87932	D	0	.	5.4524	0.16572	0.0:0.0:1.0:0.0	.	236	Q8WXC6-1	.	D	236	.	ENSP00000304147:A236D	A	-	2	0	MYEOV2	240714705	0.002000	0.14202	0.004000	0.12327	0.005000	0.04900	0.252000	0.18278	0.865000	0.35603	0.591000	0.81541	GCT	.		0.458	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336	
WISP2	8839	hgsc.bcm.edu	37	20	43348735	43348735	+	Silent	SNP	C	C	A	rs2296530	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Silent_p.G86G|WISP2_ENST00000372865.4_Silent_p.G86G|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	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)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119				p.G86G		.											.	WISP2-130	0			c.C258A						.	C		1905,2317		492,921,698	5.0	5.0	5.0		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839	exon2			CGGTGGCCGGGGG	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.258C>A	20.37:g.43348735C>A		0	0		12	9	NM_003881	0	0	54	101	47	B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																			C|0.615;A|0.385		0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881	
ATF4	468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	39918189	39918189	+	Missense_Mutation	SNP	C	C	T	rs539627686		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr22:39918189C>T	ENST00000337304.2	+	2	1520	c.638C>T	c.(637-639)aCc>aTc	p.T213I	ATF4_ENST00000396680.1_Missense_Mutation_p.T213I|ATF4_ENST00000404241.2_Missense_Mutation_p.T213I	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	213					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|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 involved in positive regulation of transcription (GO:0001077)|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(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	GAGGAAGACACCCCTTCAGAT	0.517																																					p.T213I		.											.	ATF4-90	0			c.C638T						.						36.0	32.0	34.0					22																	39918189		2203	4298	6501	SO:0001583	missense	468	exon2			AAGACACCCCTTC	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.638C>T	22.37:g.39918189C>T	ENSP00000336790:p.Thr213Ile	419	1		308	216	NM_001675	0	0	27	312	285	Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435534	0.25813	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.23754	1.89;1.89;1.89	5.24	1.87	0.25490	.	1.067660	0.07217	N	0.860157	T	0.21718	0.0523	L	0.34521	1.04	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.33111	-0.9881	10	0.87932	D	0	-0.5129	8.8407	0.35140	0.2793:0.4477:0.273:0.0	.	213	P18848	ATF4_HUMAN	I	213	ENSP00000384587:T213I;ENSP00000336790:T213I;ENSP00000379912:T213I	ENSP00000336790:T213I	T	+	2	0	ATF4	38248135	0.000000	0.05858	0.192000	0.23308	0.942000	0.58702	-0.037000	0.12164	0.177000	0.19895	0.462000	0.41574	ACC	.		0.517	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675	
KLHDC8B	200942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	49211828	49211828	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr3:49211828A>G	ENST00000332780.2	+	3	742	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	178						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AACAAGATCTATGTCCTGGGT	0.587																																					p.Y178C		.											.	KLHDC8B-90	0			c.A533G						.						58.0	54.0	55.0					3																	49211828		2203	4300	6503	SO:0001583	missense	200942	exon3			AGATCTATGTCCT		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.533A>G	3.37:g.49211828A>G	ENSP00000327468:p.Tyr178Cys	92	0		102	33	NM_173546	0	0	1	4	3		Missense_Mutation	SNP	ENST00000332780.2	37	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051223	0.55218	.	.	ENSG00000185909	ENST00000332780	T	0.69306	-0.39	5.4	4.12	0.48240	Kelch-type beta propeller (1);	0.217609	0.39210	N	0.001436	D	0.85066	0.5612	H	0.95574	3.69	0.52501	D	0.999957	D	0.76494	0.999	D	0.71870	0.975	D	0.88483	0.3070	10	0.87932	D	0	-32.4244	11.109	0.48221	0.8226:0.0:0.0:0.1774	.	178	Q8IXV7	KLD8B_HUMAN	C	178	ENSP00000327468:Y178C	ENSP00000327468:Y178C	Y	+	2	0	KLHDC8B	49186832	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.136000	0.50554	2.036000	0.60181	0.459000	0.35465	TAT	.		0.587	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546	
GMPPB	29925	broad.mit.edu	37	3	49755684	49755684	+	3'UTR	SNP	T	T	G			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr3:49755684T>G	ENST00000480687.1	-	0	4700				RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.P405P|AMIGO3_ENST00000535833.1_Silent_p.P405P|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR			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		55	8		92	19	NM_198722	0	0	3	5	2	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	
STAB1	23166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52554839	52554839	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr3:52554839G>T	ENST00000321725.6	+	55	5802	c.5726G>T	c.(5725-5727)tGg>tTg	p.W1909L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1909					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GAGGCCTGCTGGCGCTTCTAC	0.657																																					p.W1909L		.											.	STAB1-139	0			c.G5726T						.						127.0	150.0	142.0					3																	52554839		2203	4300	6503	SO:0001583	missense	23166	exon55			CCTGCTGGCGCTT	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5726G>T	3.37:g.52554839G>T	ENSP00000312946:p.Trp1909Leu	52	0		58	12	NM_015136	0	0	43	43	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251336	0.22880	.	.	ENSG00000010327	ENST00000321725	D	0.83419	-1.72	5.49	3.57	0.40892	.	0.573366	0.17768	N	0.162680	T	0.69214	0.3086	N	0.20685	0.6	0.34693	D	0.725931	B	0.02656	0.0	B	0.01281	0.0	T	0.66168	-0.5991	10	0.11485	T	0.65	.	12.8876	0.58053	0.0:0.0:0.7089:0.2911	.	1909	Q9NY15	STAB1_HUMAN	L	1909	ENSP00000312946:W1909L	ENSP00000312946:W1909L	W	+	2	0	STAB1	52529879	0.966000	0.33281	1.000000	0.80357	0.722000	0.41435	1.091000	0.30915	1.419000	0.47118	0.655000	0.94253	TGG	.		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
EEFSEC	60678	hgsc.bcm.edu	37	3	127872602	127872602	+	Silent	SNP	A	A	G	rs11719546	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr3:127872602A>G	ENST00000254730.6	+	1	306	c.252A>G	c.(250-252)ccA>ccG	p.P84P	RUVBL1_ENST00000464873.1_5'UTR|EEFSEC_ENST00000483457.1_Silent_p.P84P	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	84	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGGCGAGCCACTGCTTCAGG	0.741													A|||	685	0.136781	0.2337	0.134	5008	,	,		10616	0.0069		0.1143	False		,,,				2504	0.1646				p.P84P		.											.	EEFSEC-91	0			c.A252G						.	A		592,3228		50,492,1368	3.0	5.0	5.0		252	2.2	1.0	3	dbSNP_120	5	763,7091		37,689,3201	no	coding-synonymous	EEFSEC	NM_021937.3		87,1181,4569	GG,GA,AA		9.7148,15.4974,11.607		84/597	127872602	1355,10319	1910	3927	5837	SO:0001819	synonymous_variant	60678	exon1			CGAGCCACTGCTT		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.252A>G	3.37:g.127872602A>G		2	0		5	5	NM_021937	0	0	0	2	2	Q96HZ6	Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																			A|0.881;G|0.119		0.741	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937	
DNAJC13	23317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	132245070	132245070	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr3:132245070C>G	ENST00000260818.6	+	53	6574	c.6326C>G	c.(6325-6327)gCc>gGc	p.A2109G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2109					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GTTGGTCTAGCCTGTGAAGCA	0.413																																					p.A2109G		.											.	DNAJC13-272	0			c.C6326G						.						118.0	113.0	115.0					3																	132245070		2203	4300	6503	SO:0001583	missense	23317	exon53			GTCTAGCCTGTGA	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6326C>G	3.37:g.132245070C>G	ENSP00000260818:p.Ala2109Gly	131	0		219	85	NM_015268	0	0	23	45	22	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127773	0.77549	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.63096	-0.02	5.58	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.105066	0.64402	N	0.000004	T	0.71273	0.3320	L	0.43598	1.365	0.54753	D	0.999985	D	0.69078	0.997	D	0.66084	0.941	T	0.70454	-0.4867	10	0.35671	T	0.21	.	16.8227	0.85922	0.0:0.8711:0.1289:0.0	.	2109	O75165	DJC13_HUMAN	G	2109;756	ENSP00000260818:A2109G	ENSP00000260818:A2109G	A	+	2	0	DNAJC13	133727760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.923000	0.70045	1.485000	0.48380	0.591000	0.81541	GCC	.		0.413	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
IDUA	3425	hgsc.bcm.edu	37	4	996888	996888	+	Silent	SNP	C	C	T	rs115929690	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr4:996888C>T	ENST00000247933.4	+	10	1555	c.1467C>T	c.(1465-1467)cgC>cgT	p.R489R	IDUA_ENST00000453894.1_Silent_p.R511R|IDUA_ENST00000514224.1_Silent_p.R357R	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	489			R -> P (in MPS1H; dbSNP:rs4690226). {ECO:0000269|PubMed:7951228}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGTGGCGGCGCCTGGGCCGGC	0.776													C|||	1093	0.218251	0.2489	0.111	5008	,	,		7326	0.2133		0.169	False		,,,				2504	0.3088				p.R489R		.											.	IDUA-91	0			c.C1467T						.	C		677,3347		57,563,1392	6.0	7.0	7.0		1467	0.7	0.3	4	dbSNP_132	7	1138,6988		82,974,3007	no	coding-synonymous	IDUA	NM_000203.3		139,1537,4399	TT,TC,CC		14.0044,16.8241,14.9383		489/654	996888	1815,10335	2012	4063	6075	SO:0001819	synonymous_variant	3425	exon10			GCGGCGCCTGGGC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1467C>T	4.37:g.996888C>T		2	0		9	5	NM_000203	0	0	0	0	0	B3KWK6	Silent	SNP	ENST00000247933.4	37	CCDS3343.1																																																																																			C|0.817;T|0.183		0.776	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203	
EXOC1	55763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	56737029	56737029	+	Silent	SNP	C	C	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr4:56737029C>T	ENST00000381295.2	+	6	1137	c.789C>T	c.(787-789)aaC>aaT	p.N263N	EXOC1_ENST00000346134.7_Silent_p.N263N|EXOC1_ENST00000349598.6_Silent_p.N263N	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	263					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)					ATCTTAGTAACACTAATAATG	0.318																																					p.N263N		.											.	EXOC1-950	0			c.C789T						.						82.0	87.0	85.0					4																	56737029		2203	4300	6503	SO:0001819	synonymous_variant	55763	exon6			TAGTAACACTAAT	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.789C>T	4.37:g.56737029C>T		170	0		191	86	NM_018261	0	0	8	9	1	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	CCDS3502.1																																																																																			.		0.318	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261	
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77231087	77231087	+	Silent	SNP	C	C	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr4:77231087C>T	ENST00000237642.6	+	2	1755	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Silent_p.C188C	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		GGGAAGAATGCAGCAATAGAT	0.473																																					p.C337C		.											.	STBD1-69	0			c.C1011T						.						139.0	140.0	139.0					4																	77231087		2203	4300	6503	SO:0001819	synonymous_variant	8987	exon2			AGAATGCAGCAAT		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.1011C>T	4.37:g.77231087C>T		90	0		115	3	NM_003943	0	0	42	42	0		Silent	SNP	ENST00000237642.6	37	CCDS3578.1																																																																																			.		0.473	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2		
SOWAHB	345079	hgsc.bcm.edu	37	4	77818202	77818202	+	Silent	SNP	T	T	C	rs2645674	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	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		7	5	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	
FBXO8	26269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	175158607	175158607	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr4:175158607G>A	ENST00000393674.2	-	6	1778	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	FBXO8_ENST00000503293.1_Missense_Mutation_p.H265Y	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	306					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TCATAAAGATGCCCTACAAAA	0.388																																					p.H306Y		.											.	FBXO8-290	0			c.C916T						.						93.0	92.0	93.0					4																	175158607		2203	4300	6503	SO:0001583	missense	26269	exon6			AAAGATGCCCTAC	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.916C>T	4.37:g.175158607G>A	ENSP00000377280:p.His306Tyr	101	0		83	26	NM_012180	0	0	18	36	18	B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	ENST00000393674.2	37	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532584	0.85812	.	.	ENSG00000164117	ENST00000393674;ENST00000503293;ENST00000296517	T;T	0.53857	0.6;0.6	5.52	5.52	0.82312	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	L	0.28694	0.88	0.80722	D	1	D;D	0.67145	0.994;0.996	P;P	0.60609	0.805;0.877	T	0.64364	-0.6425	10	0.72032	D	0.01	.	19.442	0.94824	0.0:0.0:1.0:0.0	.	265;306	G5E9Z0;Q9NRD0	.;FBX8_HUMAN	Y	306;265;219	ENSP00000377280:H306Y;ENSP00000422905:H265Y	ENSP00000296517:H219Y	H	-	1	0	FBXO8	175395182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.844000	0.92147	2.593000	0.87608	0.655000	0.94253	CAT	.		0.388	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180	
PDZD2	23037	bcgsc.ca	37	5	32074509	32074509	+	Silent	SNP	G	G	A	rs2291113	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr5:32074509G>A	ENST00000438447.1	+	18	3685	c.3297G>A	c.(3295-3297)acG>acA	p.T1099T	PDZD2_ENST00000282493.3_Silent_p.T1099T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1099					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGAGTCCGACGAACACTGGGA	0.592													G|||	494	0.0986422	0.0318	0.1066	5008	,	,		19596	0.2232		0.0507	False		,,,				2504	0.1043				p.T1099T		.											.	PDZD2-563	0			c.G3297A						.	G		202,4204	126.6+/-163.6	2,198,2003	80.0	90.0	86.0		3297	3.6	0.0	5	dbSNP_100	86	587,8013	157.5+/-211.1	23,541,3736	no	coding-synonymous	PDZD2	NM_178140.2		25,739,5739	AA,AG,GG		6.8256,4.5847,6.0664		1099/2840	32074509	789,12217	2203	4300	6503	SO:0001819	synonymous_variant	23037	exon17			TCCGACGAACACT	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3297G>A	5.37:g.32074509G>A		98	1		125	5	NM_178140	0	0	0	0	0	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																			G|0.922;A|0.078		0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
NUP155	9631	broad.mit.edu;bcgsc.ca	37	5	37328505	37328505	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr5:37328505C>T	ENST00000231498.3	-	17	2034	c.1831G>A	c.(1831-1833)Ggt>Agt	p.G611S	RNU7-75P_ENST00000516071.1_RNA|NUP155_ENST00000381843.2_Missense_Mutation_p.G552S|NUP155_ENST00000513532.1_Missense_Mutation_p.G611S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	611	Pro-rich.				atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|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 pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGGACTACCACTAGGAACA	0.348																																					p.G611S		.											.	NUP155-205	0			c.G1831A						.						84.0	76.0	79.0					5																	37328505		2203	4300	6503	SO:0001583	missense	9631	exon17			GACTACCACTAGG	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1831G>A	5.37:g.37328505C>T	ENSP00000231498:p.Gly611Ser	503	0		627	18	NM_153485	0	0	6	7	1	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	9.800	1.180276	0.21787	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.76186	-1.0;-1.0;-0.99	4.86	1.98	0.26296	.	0.464686	0.25887	N	0.027659	T	0.51160	0.1658	N	0.16307	0.4	0.32288	N	0.566743	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46442	-0.9191	10	0.07325	T	0.83	-2.8704	9.008	0.36124	0.0:0.6731:0.0:0.3269	.	611;611	E9PF10;O75694	.;NU155_HUMAN	S	611;552;573;611	ENSP00000231498:G611S;ENSP00000371265:G552S;ENSP00000422019:G611S	ENSP00000231498:G611S	G	-	1	0	NUP155	37364262	0.997000	0.39634	0.998000	0.56505	0.908000	0.53690	0.500000	0.22562	0.164000	0.19529	-0.229000	0.12294	GGT	.		0.348	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298	
SOWAHA	134548	hgsc.bcm.edu	37	5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	rs40274	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2.0	3.0	3.0		371	-0.3	0.0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	0	0		5	5	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873	
PCDHB10	56126	broad.mit.edu	37	5	140573548	140573548	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr5:140573548G>C	ENST00000239446.4	+	1	1607	c.1423G>C	c.(1423-1425)Gcc>Ccc	p.A475P		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	475	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)			CAGCGTCAGCGCCACAGACAG	0.662																																					p.A475P		.											.	PCDHB10-92	0			c.G1423C						.						46.0	57.0	53.0					5																	140573548		2202	4292	6494	SO:0001583	missense	56126	exon1			GTCAGCGCCACAG	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.1423G>C	5.37:g.140573548G>C	ENSP00000239446:p.Ala475Pro	208	0		267	5	NM_018930	0	0	18	18	0	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	15.89	2.966256	0.53507	.	.	ENSG00000120324	ENST00000239446	T	0.61980	0.06	3.22	3.22	0.36961	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83603	0.5290	H	0.99357	4.53	0.42057	D	0.99114	P	0.38335	0.627	P	0.48738	0.588	D	0.90067	0.4160	9	0.87932	D	0	.	14.6181	0.68562	0.0:0.0:1.0:0.0	.	475	Q9UN67	PCDBA_HUMAN	P	475	ENSP00000239446:A475P	ENSP00000239446:A475P	A	+	1	0	PCDHB10	140553732	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	6.399000	0.73248	1.819000	0.53055	0.549000	0.68633	GCC	.		0.662	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
C5orf52	100190949	broad.mit.edu	37	5	157102159	157102159	+	Missense_Mutation	SNP	G	G	A	rs10051838	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr5:157102159G>A	ENST00000409999.3	+	2	334	c.272G>A	c.(271-273)cGg>cAg	p.R91Q		NM_001145132.1	NP_001138604.1	A6NGY3	CE052_HUMAN	chromosome 5 open reading frame 52	91										endometrium(2)|lung(1)	3						CATTTATCTCGGGTGATTATT	0.448													.|||	913	0.182308	0.3071	0.111	5008	,	,		19662	0.119		0.1252	False		,,,				2504	0.1881				p.R91Q		.											.	.	0			c.G272A						.	G	GLN/ARG	412,972		53,306,333	123.0	111.0	115.0		272	2.2	1.0	5	dbSNP_119	115	431,2751		32,367,1192	yes	missense	C5orf52	NM_001145132.1	43	85,673,1525	AA,AG,GG		13.5449,29.7688,18.4625	probably-damaging	91/160	157102159	843,3723	692	1591	2283	SO:0001583	missense	100190949	exon2			TATCTCGGGTGAT	BG721329	CCDS47329.1	5q33.3	2012-02-24			ENSG00000187658	ENSG00000187658			35121	protein-coding gene	gene with protein product							Standard	NM_001145132		Approved		uc011ddt.2	A6NGY3	OTTHUMG00000154518	ENST00000409999.3:c.272G>A	5.37:g.157102159G>A	ENSP00000387027:p.Arg91Gln	96	0		120	3	NM_001145132	0	0	0	0	0		Missense_Mutation	SNP	ENST00000409999.3	37	CCDS47329.1	355	0.16254578754578755	148	0.3008130081300813	39	0.10773480662983426	74	0.12937062937062938	94	0.12401055408970976	G	11.63	1.697086	0.30142	0.297688	0.135449	ENSG00000187658	ENST00000409999	T	0.36878	1.23	2.22	2.22	0.28083	.	.	.	.	.	T	0.00012	0.0000	L	0.32530	0.975	0.39575	P	0.030656000000000017	P	0.46952	0.887	B	0.32211	0.142	T	0.37753	-0.9692	8	0.66056	D	0.02	-17.8701	7.8836	0.29637	0.0:0.0:1.0:0.0	rs10051838;rs52825189;rs61469151;rs10051838	91	A6NGY3	CE052_HUMAN	Q	91	ENSP00000387027:R91Q	ENSP00000387027:R91Q	R	+	2	0	C5orf52	157034737	0.989000	0.36119	0.998000	0.56505	0.581000	0.36288	0.228000	0.17814	1.235000	0.43724	0.313000	0.20887	CGG	G|0.823;A|0.177		0.448	C5orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335664.1	NM_001145132	
GPLD1	2822	bcgsc.ca	37	6	24437408	24437408	+	Silent	SNP	G	G	A	rs61733145	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr6:24437408G>A	ENST00000230036.1	-	21	2240	c.2130C>T	c.(2128-2130)agC>agT	p.S710S		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	710					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						GGCGGTCTCCGCTGAAGGTGC	0.557													G|||	120	0.0239617	0.028	0.0375	5008	,	,		19974	0.002		0.0398	False		,,,				2504	0.0153				p.S710S		.											.	GPLD1-228	0			c.C2130T						.	G		134,4272	95.7+/-134.4	3,128,2072	112.0	96.0	102.0		2130	-6.3	0.9	6	dbSNP_129	102	409,8191	129.5+/-187.6	5,399,3896	no	coding-synonymous	GPLD1	NM_001503.2		8,527,5968	AA,AG,GG		4.7558,3.0413,4.175		710/841	24437408	543,12463	2203	4300	6503	SO:0001819	synonymous_variant	2822	exon21			GTCTCCGCTGAAG	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.2130C>T	6.37:g.24437408G>A		183	2		115	5	NM_001503	0	0	0	0	0	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	CCDS4553.1																																																																																			G|0.961;A|0.039		0.557	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
COL11A2	1302	ucsc.edu;bcgsc.ca	37	6	33138677	33138677	+	Silent	SNP	G	G	A	rs1799911	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr6:33138677G>A	ENST00000374708.4	-	44	3384	c.3126C>T	c.(3124-3126)ccC>ccT	p.P1042P	COL11A2_ENST00000361917.1_Silent_p.P1021P|COL11A2_ENST00000341947.2_Silent_p.P1128P|COL11A2_ENST00000374712.1_Silent_p.P1047P|COL11A2_ENST00000395197.1_Silent_p.P1068P|COL11A2_ENST00000374714.1_Silent_p.P1102P|COL11A2_ENST00000357486.1_Silent_p.P1107P|COL11A2_ENST00000374713.1_Silent_p.P1081P|COL11A2_ENST00000477772.1_Intron	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1128	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCGAGCTCCGGGCTCCCCAT	0.572													G|||	1231	0.245807	0.1225	0.2579	5008	,	,		17393	0.2431		0.2525	False		,,,				2504	0.3998				p.P1128P	Melanoma(1;90 116 3946 5341 17093)	.											.	COL11A2-95	0			c.C3384T						.	G	,,	447,2575		34,379,1098	66.0	74.0	71.0		3063,3384,3126	-9.3	0.7	6	dbSNP_89	71	1509,3909		207,1095,1407	yes	coding-synonymous,coding-synonymous,coding-synonymous	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	,,	241,1474,2505	AA,AG,GG		27.8516,14.7915,23.1754	,,	1021/1630,1128/1737,1042/1651	33138677	1956,6484	1511	2709	4220	SO:0001819	synonymous_variant	1302	exon46			AGCTCCGGGCTCC	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3126C>T	6.37:g.33138677G>A		50	0		35	4	NM_080680	0	0	0	0	0	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	CCDS43452.1																																																																																			G|0.763;A|0.237		0.572	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
MICAL1	64780	broad.mit.edu;bcgsc.ca	37	6	109767928	109767928	+	Nonsense_Mutation	SNP	C	C	A	rs552227069	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr6:109767928C>A	ENST00000358807.3	-	18	2586	c.2275G>T	c.(2275-2277)Gaa>Taa	p.E759*	MICAL1_ENST00000358577.3_Nonsense_Mutation_p.E673*|MICAL1_ENST00000368952.4_Nonsense_Mutation_p.E778*	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	759					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCGCTGCCTTCCGCTTTGTGG	0.567																																					p.E759X		.											.	MICAL1-154	0			c.G2275T						.						78.0	70.0	73.0					6																	109767928		2203	4300	6503	SO:0001587	stop_gained	64780	exon18			TGCCTTCCGCTTT	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2275G>T	6.37:g.109767928C>A	ENSP00000351664:p.Glu759*	130	0		144	6	NM_022765	0	0	1	1	0	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Nonsense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	38	6.728781	0.97792	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	.	.	.	5.61	4.56	0.56223	.	0.854162	0.10500	N	0.667355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	10.2843	0.43558	0.0:0.8963:0.0:0.1037	.	.	.	.	X	759;778;673;283	.	ENSP00000351385:E673X	E	-	1	0	MICAL1	109874621	0.000000	0.05858	0.024000	0.17045	0.002000	0.02628	0.449000	0.21744	2.644000	0.89710	0.561000	0.74099	GAA	.		0.567	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765	
DNAH11	8701	broad.mit.edu;bcgsc.ca	37	7	21892238	21892238	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr7:21892238A>T	ENST00000409508.3	+	67	11081	c.11050A>T	c.(11050-11052)Ata>Tta	p.I3684L	DNAH11_ENST00000328843.6_Missense_Mutation_p.I3691L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3691	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						CGTGGCAGAGATAGAGCACAA	0.517									Kartagener syndrome																												.		.											.	DNAH11-146	0			.						.						95.0	98.0	97.0					7																	21892238		2018	4195	6213	SO:0001583	missense	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GCAGAGATAGAGC	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.11050A>T	7.37:g.21892238A>T	ENSP00000475939:p.Ile3684Leu	157	0		230	7	.	0	0	0	0	0	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.1|21.1	4.100558|4.100558	0.76983|0.76983	.|.	.|.	ENSG00000105877|ENSG00000105877	ENST00000421290|ENST00000328843	.|T	.|0.59364	.|0.27	6.16|6.16	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67906|0.67906	0.2943|0.2943	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.51537	.|0.946	.|P	.|0.54060	.|0.741	T|T	0.71341|0.71341	-0.4622|-0.4622	4|9	.|0.87932	.|D	.|0	.|.	12.253|12.253	0.54610|0.54610	0.9334:0.0:0.0666:0.0|0.9334:0.0:0.0666:0.0	.|.	.|3691	.|Q96DT5	.|DYH11_HUMAN	V|L	78|3691	.|ENSP00000330671:I3691L	.|ENSP00000330671:I3691L	D|I	+|+	2|1	0|0	DNAH11|DNAH11	21858763|21858763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.425000|0.425000	0.31504|0.31504	6.238000|6.238000	0.72350|0.72350	1.143000|1.143000	0.42306|0.42306	0.528000|0.528000	0.53228|0.53228	GAT|ATA	.		0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
GHRHR	2692	broad.mit.edu;bcgsc.ca	37	7	31016898	31016898	+	Silent	SNP	C	C	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr7:31016898C>A	ENST00000326139.2	+	12	1153	c.1107C>A	c.(1105-1107)ggC>ggA	p.G369G	GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409316.1_Missense_Mutation_p.L136I|GHRHR_ENST00000409904.3_Silent_p.G305G	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	369					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	ACCCACAGGGCTTCATTGTTG	0.547																																					p.G369G		.											.	GHRHR-586	0			c.C1107A						.						217.0	190.0	199.0					7																	31016898		2203	4300	6503	SO:0001819	synonymous_variant	2692	exon12			ACAGGGCTTCATT		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1107C>A	7.37:g.31016898C>A		180	0		208	7	NM_000823	0	0	0	0	0	Q99863	Silent	SNP	ENST00000326139.2	37	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	c	7.516	0.655577	0.14580	.	.	ENSG00000106128	ENST00000409233;ENST00000409316	.	.	.	5.25	-1.67	0.08238	.	.	.	.	.	T	0.29423	0.0733	.	.	.	0.80722	D	1	B	0.17667	0.023	B	0.18871	0.023	T	0.11299	-1.0593	7	0.24483	T	0.36	.	1.7958	0.03061	0.1312:0.3996:0.1287:0.3404	.	136	Q9HB43	.	I	157;136	.	ENSP00000386919:L157I	L	+	1	0	GHRHR	30983423	0.000000	0.05858	0.979000	0.43373	0.324000	0.28378	-2.246000	0.01191	-0.050000	0.13356	0.645000	0.84053	CTT	.		0.547	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2		
NACAD	23148	broad.mit.edu	37	7	45123900	45123900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr7:45123900delA	ENST00000490531.2	-	2	1898	c.1879delT	c.(1879-1881)tccfs	p.S627fs		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	627					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						GCCTGCTGGGACACAATCGTG	0.592																																					p.S627fs		.											.	.	0			c.1879delT						.			13,2001		2,9,996	3.0	5.0	4.0			2.1	0.0	7		4	36,3936		1,34,1951	no	frameshift	NACAD	NM_001146334.1		3,43,2947	A1A1,A1R,RR		0.9063,0.6455,0.8186			45123900	49,5937	628	1428	2056	SO:0001589	frameshift_variant	23148	exon2			GCTGGGACACAAT	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1879delT	7.37:g.45123900delA	ENSP00000420477:p.Ser627fs	10	0		6	2	NM_001146334	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000490531.2	37	CCDS47582.1																																																																																			.		0.592	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
NACAD	23148	hgsc.bcm.edu	37	7	45125700	45125700	+	Missense_Mutation	SNP	C	C	T	rs141784618	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr7:45125700C>T	ENST00000490531.2	-	2	98	c.79G>A	c.(79-81)Gat>Aat	p.D27N		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	27					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						GCGGCCGCATCGCAGGACAGA	0.657													C|||	15	0.00299521	0.0008	0.0	5008	,	,		15496	0.0		0.0139	False		,,,				2504	0.0				p.D27N		.											.	.	0			c.G79A						.						2.0	5.0	4.0					7																	45125700		601	1454	2055	SO:0001583	missense	23148	exon2			CCGCATCGCAGGA	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.79G>A	7.37:g.45125700C>T	ENSP00000420477:p.Asp27Asn	4	0		5	4	NM_001146334	0	0	0	0	0		Missense_Mutation	SNP	ENST00000490531.2	37	CCDS47582.1	10	0.004578754578754579	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	8	0.010554089709762533	C	15.11	2.735692	0.49045	.	.	ENSG00000136274	ENST00000490531	T	0.18810	2.19	4.06	2.16	0.27623	.	.	.	.	.	T	0.07863	0.0197	N	0.24115	0.695	0.18873	N	0.999981	D	0.57899	0.981	B	0.37943	0.261	T	0.17653	-1.0362	9	0.87932	D	0	.	5.1329	0.14919	0.0:0.6693:0.2128:0.118	.	27	O15069	NACAD_HUMAN	N	27	ENSP00000420477:D27N	ENSP00000420477:D27N	D	-	1	0	NACAD	45092225	0.937000	0.31787	0.287000	0.24848	0.658000	0.38924	0.664000	0.25068	0.330000	0.23485	0.561000	0.74099	GAT	C|0.995;T|0.005		0.657	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
ZNF394	84124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	99092230	99092230	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr7:99092230T>C	ENST00000337673.6	-	3	811	c.608A>G	c.(607-609)aAa>aGa	p.K203R	ZNF394_ENST00000394177.3_5'UTR|ZNF394_ENST00000426306.2_Missense_Mutation_p.K161E|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	203	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	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)					AATCAACTCTTTGTTCTCCAC	0.468																																					p.K203R	Ovarian(24;589 697 9939 12704 40742)	.											.	ZNF394-90	0			c.A608G						.						61.0	64.0	63.0					7																	99092230		2202	4300	6502	SO:0001583	missense	84124	exon3			AACTCTTTGTTCT	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.608A>G	7.37:g.99092230T>C	ENSP00000337363:p.Lys203Arg	21	0		46	24	NM_032164	0	0	1	6	5	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	CCDS5666.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.02|11.02	1.517096|1.517096	0.27123|0.27123	.|.	.|.	ENSG00000160908|ENSG00000160908	ENST00000426306|ENST00000337673	T|T	0.03717|0.05717	3.83|3.4	3.97|3.97	-1.35|-1.35	0.09114|0.09114	.|Krueppel-associated box (3);	0.438058|0.438058	0.19541|0.19541	N|N	0.111801|0.111801	T|T	0.03178|0.03178	0.0093|0.0093	N|N	0.25286|0.25286	0.73|0.73	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.43750|0.43750	-0.9372|-0.9372	8|10	0.29301|0.18276	T|T	0.29|0.48	.|.	4.2208|4.2208	0.10556|0.10556	0.0:0.2075:0.3739:0.4186|0.0:0.2075:0.3739:0.4186	.|.	.|203	.|Q53GI3	.|ZN394_HUMAN	E|R	161|203	ENSP00000409565:K161E|ENSP00000337363:K203R	ENSP00000409565:K161E|ENSP00000337363:K203R	K|K	-|-	1|2	0|0	ZNF394|ZNF394	98930166|98930166	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.360000|0.360000	0.29518|0.29518	-0.329000|-0.329000	0.07935|0.07935	-0.229000|-0.229000	0.09854|0.09854	0.533000|0.533000	0.62120|0.62120	AAG|AAA	.		0.468	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164	
NUTM2F	54754	broad.mit.edu	37	9	97080947	97080948	+	Frame_Shift_Del	DEL	AA	AA	-	rs150455117|rs112857574|rs199550948	byFrequency	TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr9:97080947_97080948delAA	ENST00000253262.4	-	7	2090_2091	c.2070_2071delTT	c.(2068-2073)ccttctfs	p.S691fs	NUTM2F_ENST00000341207.4_Frame_Shift_Del_p.S676fs|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.P556P(1)|p.S557delS(1)									CTGGCAGGAGAAGGTGATGGGC	0.619																																					p.690_691del		.											.	FAM22F-68	2	Substitution - coding silent(1)|Deletion - In frame(1)	prostate(1)|central_nervous_system(1)	c.2070_2071del						.																																			SO:0001589	frameshift_variant	54754	exon7			CAGGAGAAGGTGA		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2070_2071delTT	9.37:g.97080947_97080948delAA	ENSP00000253262:p.Ser691fs	206	1		286	7	NM_017561	0	0	0	0	0	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Frame_Shift_Del	DEL	ENST00000253262.4	37	CCDS47994.1																																																																																			.		0.619	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561	
NUTM2F	54754	broad.mit.edu	37	9	97080951	97080951	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr9:97080951delT	ENST00000253262.4	-	7	2087	c.2067delA	c.(2065-2067)tcafs	p.S689fs	NUTM2F_ENST00000341207.4_Frame_Shift_Del_p.S674fs|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	689																	CAGGAGAAGGTGATGGGCTGA	0.617																																					p.S689fs		.											.	FAM22F-68	0			c.2067delA						.						28.0	24.0	26.0					9																	97080951		1858	4072	5930	SO:0001589	frameshift_variant	54754	exon7			AGAAGGTGATGGG		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2067delA	9.37:g.97080951delT	ENSP00000253262:p.Ser689fs	208	1		284	7	NM_017561	0	0	0	0	0	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Frame_Shift_Del	DEL	ENST00000253262.4	37	CCDS47994.1																																																																																			.		0.617	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561	
WDR34	89891	hgsc.bcm.edu	37	9	131418828	131418828	+	Missense_Mutation	SNP	A	A	C	rs4837292		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr9:131418828A>C	ENST00000372715.2	-	1	238	c.178T>G	c.(178-180)Tgg>Ggg	p.W60G		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	60				W -> G (in Ref. 2; AAH11874/AAH01614). {ECO:0000305}.		axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCGTCTCCCAGCGGATGCCC	0.806																																					p.W60G		.											.	WDR34-92	0			c.T178G						.	C	GLY/TRP	1803,9		897,9,0	1.0	1.0	1.0		178	2.1	1.0	9	dbSNP_111	1	3858,0		1929,0,0	no	missense	WDR34	NM_052844.3	184	2826,9,0	CC,CA,AA		0.0,0.4967,0.1587	benign	60/537	131418828	5661,9	906	1929	2835	SO:0001583	missense	89891	exon1			TCTCCCAGCGGAT	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.178T>G	9.37:g.131418828A>C	ENSP00000361800:p.Trp60Gly	0	0		4	4	NM_052844	0	0	0	0	0	Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	CCDS6906.2	2170	0.9935897435897436	486	0.9878048780487805	362	1.0	571	0.9982517482517482	751	0.9907651715039578	C	7.343	0.621247	0.14193	0.995033	1.0	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T;T;T	0.74106	-0.81;-0.81;-0.81	4.02	2.12	0.27331	.	0.538297	0.18788	N	0.131154	T	0.00012	0.0000	N	0.00538	-1.39	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34625	-0.9821	9	0.08381	T	0.77	-3.0135	7.4804	0.27402	0.1755:0.4462:0.3784:0.0	rs4837292;rs56752541	45;60	A2A3F8;Q96EX3	.;WDR34_HUMAN	G	60;51;45	ENSP00000361800:W60G;ENSP00000411370:W51G;ENSP00000415421:W45G	ENSP00000361800:W60G	W	-	1	0	WDR34	130458649	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	0.709000	0.25734	0.259000	0.21709	-0.126000	0.14955	TGG	A|0.006;C|0.994		0.806	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844	
MXRA5	25878	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	3229333	3229333	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:3229333A>T	ENST00000217939.6	-	7	7065	c.6911T>A	c.(6910-6912)tTc>tAc	p.F2304Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2304	Ig-like C2-type 7.					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)				CCCATTGTTGAAGACGACATA	0.547																																					p.F2304Y		.											.	MXRA5-136	0			c.T6911A						.						162.0	125.0	138.0					X																	3229333		2203	4300	6503	SO:0001583	missense	25878	exon7			TTGTTGAAGACGA	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.6911T>A	X.37:g.3229333A>T	ENSP00000217939:p.Phe2304Tyr	118	1		152	52	NM_015419	0	0	0	0	0	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911401	0.52439	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66815	-0.23	4.16	4.16	0.48862	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39759	U	0.001273	T	0.72890	0.3517	L	0.41356	1.27	0.44162	D	0.996964	D	0.89917	1.0	D	0.85130	0.997	T	0.70350	-0.4896	10	0.31617	T	0.26	.	12.7526	0.57316	1.0:0.0:0.0:0.0	.	2304	Q9NR99	MXRA5_HUMAN	Y	2304	ENSP00000217939:F2304Y	ENSP00000217939:F2304Y	F	-	2	0	MXRA5	3239333	1.000000	0.71417	0.528000	0.27938	0.443000	0.32047	7.930000	0.87610	1.373000	0.46208	0.414000	0.27820	TTC	.		0.547	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
ASB12	142689	broad.mit.edu	37	X	63444868	63444868	+	Silent	SNP	T	T	G			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:63444868T>G	ENST00000396130.2	-	1	635	c.636A>C	c.(634-636)ccA>ccC	p.P212P	MTMR8_ENST00000453546.1_Silent_p.P596P|ASB12_ENST00000362002.2_Silent_p.P221P			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	212					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TGCGGGGTCTTGGGACACGAG	0.532																																					p.P221P		.											.	ASB12-228	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)	c.A663C						.						51.0	46.0	48.0					X																	63444868		2203	4300	6503	SO:0001819	synonymous_variant	142689	exon2			GGGTCTTGGGACA	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.636A>C	X.37:g.63444868T>G		177	6		245	16	NM_130388	0	0	4	4	0	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37																																																																																				.		0.532	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
ARMCX1	51309	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	100808269	100808269	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:100808269C>T	ENST00000372829.3	+	4	727	c.356C>T	c.(355-357)gCa>gTa	p.A119V		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	119						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						AAGGAACAGGCAAGTGCAAAG	0.597																																					p.A119V		.											.	ARMCX1-134	0			c.C356T						.						80.0	73.0	75.0					X																	100808269		2203	4300	6503	SO:0001583	missense	51309	exon4			AACAGGCAAGTGC	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.356C>T	X.37:g.100808269C>T	ENSP00000361917:p.Ala119Val	113	1		140	44	NM_016608	0	0	36	36	0	Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	c	18.07	3.541907	0.65198	.	.	ENSG00000126947	ENST00000372829	T	0.37584	1.19	3.62	3.62	0.41486	.	.	.	.	.	T	0.38612	0.1047	N	0.24115	0.695	0.30816	N	0.738285	D	0.63880	0.993	D	0.70227	0.968	T	0.09164	-1.0687	9	0.11794	T	0.64	-4.4793	9.7523	0.40483	0.0:1.0:0.0:0.0	.	119	Q9P291	ARMX1_HUMAN	V	119	ENSP00000361917:A119V	ENSP00000361917:A119V	A	+	2	0	ARMCX1	100694925	1.000000	0.71417	0.997000	0.53966	0.855000	0.48748	2.994000	0.49433	2.049000	0.60858	0.499000	0.49734	GCA	.		0.597	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608	
ATP11C	286410	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	138901556	138901556	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:138901556G>C	ENST00000327569.3	-	3	285	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V	ATP11C_ENST00000370557.1_Missense_Mutation_p.L60V|ATP11C_ENST00000370543.1_Missense_Mutation_p.L63V|ATP11C_ENST00000361648.2_Missense_Mutation_p.L63V|ATP11C_ENST00000359686.2_Missense_Mutation_p.L63V	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	63					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTTCAAACAGATTCTTTGGG	0.308																																					p.L63V		.											.	ATP11C-198	0			c.C187G						.						30.0	34.0	32.0					X																	138901556		2198	4278	6476	SO:0001583	missense	286410	exon3			CAAACAGATTCTT	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.187C>G	X.37:g.138901556G>C	ENSP00000332756:p.Leu63Val	104	1		93	25	NM_001010986	0	0	4	4	0	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164849	0.57476	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.34	2.61	0.31194	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	D	0.91195	0.7226	H	0.94222	3.51	0.40804	D	0.983364	D;D	0.60160	0.987;0.978	P;P	0.62382	0.901;0.799	D	0.89980	0.4100	10	0.87932	D	0	.	7.9575	0.30051	0.2739:0.0:0.7261:0.0	.	63;63	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	V	60;63;63;63;63	ENSP00000359588:L60V;ENSP00000355165:L63V;ENSP00000332756:L63V;ENSP00000359574:L63V;ENSP00000352715:L63V	ENSP00000332756:L63V	L	-	1	2	ATP11C	138729222	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	2.231000	0.43009	0.240000	0.21263	-0.192000	0.12808	CTG	.		0.308	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
PLXNB3	5365	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	153035385	153035385	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:153035385G>C	ENST00000361971.5	+	7	1734	c.1620G>C	c.(1618-1620)gaG>gaC	p.E540D	PLXNB3_ENST00000538543.1_Missense_Mutation_p.E90D|PLXNB3_ENST00000538282.1_Missense_Mutation_p.E150D|PLXNB3_ENST00000538966.1_Missense_Mutation_p.E563D|PLXNB3_ENST00000538776.1_Missense_Mutation_p.E193D	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	540					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)					CCCGCCAGGAGCAGGGCCAGG	0.687																																					p.E563D		.											.	PLXNB3-130	0			c.G1689C						.						18.0	20.0	19.0					X																	153035385		2192	4292	6484	SO:0001583	missense	5365	exon8			CCAGGAGCAGGGC	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.1620G>C	X.37:g.153035385G>C	ENSP00000355378:p.Glu540Asp	203	2		181	68	NM_001163257	0	0	0	0	0	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590091	0.66105	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538543;ENST00000538282	T;T;T;T;T	0.68903	5.16;5.12;4.57;1.87;-0.36	4.71	3.83	0.44106	.	0.185756	0.45606	D	0.000343	T	0.76630	0.4014	M	0.83118	2.625	0.31358	N	0.681724	P;D;D;D;P	0.71674	0.945;0.998;0.963;0.991;0.945	P;P;P;P;P	0.61477	0.777;0.831;0.721;0.889;0.83	T	0.75156	-0.3417	10	0.18276	T	0.48	.	9.1703	0.37076	0.1123:0.0:0.8877:0.0	.	193;222;90;563;540	B7Z3H9;B7Z9A5;F5GZZ4;F5H773;Q9ULL4	.;.;.;.;PLXB3_HUMAN	D	563;540;193;90;150	ENSP00000442736:E563D;ENSP00000355378:E540D;ENSP00000445569:E193D;ENSP00000444086:E90D;ENSP00000441919:E150D	ENSP00000355378:E540D	E	+	3	2	PLXNB3	152688579	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	1.356000	0.34079	0.756000	0.33013	0.600000	0.82982	GAG	.		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
HCFC1	3054	bcgsc.ca	37	X	153215839	153215839	+	Silent	SNP	G	G	A	rs3027875		TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chrX:153215839G>A	ENST00000310441.7	-	24	6825	c.5859C>T	c.(5857-5859)tgC>tgT	p.C1953C	HCFC1_ENST00000354233.3_Silent_p.C1884C|HCFC1_ENST00000369984.4_Silent_p.C1998C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1953	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)					GGCTGGGCCCGCAGTACACCC	0.652													G|||	722	0.191258	0.0197	0.1816	3775	,	,		11049	0.002		0.4821	False		,,,				2504	0.0849				p.C1953C		.											.	HCFC1-132	0			c.C5859T						.	G		298,3211		22,216,38,1232,531	41.0	47.0	45.0		5859	-5.3	0.9	X	dbSNP_102	45	4106,2410		924,1122,1136,313,662	no	coding-synonymous	HCFC1	NM_005334.2		946,1338,1174,1545,1193	AA,AG,A,GG,G		36.9859,8.4924,43.9302		1953/2036	153215839	4404,5621	2039	4157	6196	SO:0001819	synonymous_variant	3054	exon24			GGGCCCGCAGTAC		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.5859C>T	X.37:g.153215839G>A		138	0		152	7	NM_005334	0	0	21	21	0	Q6P4G5	Silent	SNP	ENST00000310441.7	37	CCDS44020.1	475	0.2863170584689572	17	0.035269709543568464	46	0.15333333333333332	2	0.0034965034965034965	261	0.4943181818181818	G	10.91	1.485602	0.26686	0.084924	0.630141	ENSG00000172534	ENST00000444191	.	.	.	5.42	-5.26	0.02772	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.11108	-1.0601	3	.	.	.	.	15.8112	0.78565	0.7732:0.0:0.2268:0.0	rs3027875	.	.	.	W	529	.	.	R	-	1	2	HCFC1	152869033	0.009000	0.17119	0.935000	0.37517	0.942000	0.58702	-0.600000	0.05693	-1.195000	0.02680	-0.411000	0.06167	CGG	G|0.712;A|0.288		0.652	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
NACAD	23148	broad.mit.edu	37	7	45123894	45123895	+	Frame_Shift_Ins	INS	-	-	C			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr7:45123894_45123895insC	ENST00000490531.2	-	2	1903_1904	c.1884_1885insG	c.(1882-1887)cagcagfs	p.Q629fs		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	629					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TCTTCAGCCTGCTGGGACACAA	0.599																																					p.Q629fs		.											.	.	0			c.1885_1886insG						.			19,1991		3,13,989						-4.1	0.0			5	55,4031		3,49,1991	no	frameshift	NACAD	NM_001146334.1		6,62,2980	A1A1,A1R,RR		1.3461,0.9453,1.2139				74,6022				SO:0001589	frameshift_variant	23148	exon2			CAGCCTGCTGGGA	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1885dupG	7.37:g.45123895_45123895dupC	ENSP00000420477:p.Gln629fs	11	0		6	2	NM_001146334	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000490531.2	37	CCDS47582.1																																																																																			.		0.599	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
CHMP4C	92421	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	82667643	82667644	+	Frame_Shift_Ins	INS	-	-	A			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr8:82667643_82667644insA	ENST00000297265.4	+	3	600_601	c.407_408insA	c.(406-411)acagagfs	p.E137fs		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	137	Intramolecular interaction with C- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|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)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CAAGAGATCACAGAGCAACAGG	0.347																																					p.T136fs		.											.	CHMP4C-92	0			c.407_408insA						.																																			SO:0001589	frameshift_variant	92421	exon3			AGATCACAGAGCA	AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"""Charged multivesicular body proteins"""	30599	protein-coding gene	gene with protein product	"""Snf7 homologue associated with Alix 3"""	610899	"""chromatin modifying protein 4C"""			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.408dupA	8.37:g.82667644_82667644dupA	ENSP00000297265:p.Glu137fs	138	0		176	63	NM_152284	0	0	0	0	0	B2RBZ1	Frame_Shift_Ins	INS	ENST00000297265.4	37	CCDS6233.1																																																																																			.		0.347	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284	
SLC25A37	51312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	23429210	23429211	+	Missense_Mutation	DNP	CG	CG	TT			TCGA-OR-A5JD-01A-11D-A29I-10	TCGA-OR-A5JD-10B-01D-A29L-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	98c81e55-69a1-4d15-8d59-a092e14f8989	cd3b2d7f-d517-41f5-9c2f-996138055173	g.chr8:23429210_23429211CG>TT	ENST00000519973.1	+	4	1057_1058	c.859_860CG>TT	c.(859-861)CGg>TTg	p.R287L	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	287					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CAATGCCTTCCGGACGGTGTAC	0.604																																					p.R287L		.											.	SLC25A37-90	0			c.G860T						.																																			SO:0001583	missense	51312	exon4			CCTTCCGGACGGT	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	Exception_encountered	8.37:g.23429210_23429211delinsTT	ENSP00000429200:p.Arg287Leu	80	0		116	12	NM_016612	0	0	0	0	0	A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	DNP	ENST00000519973.1	37	CCDS47828.1																																																																																			.		0.604	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612	
