#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_Gene_Freq	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_TranscriptID	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
DENND5B	160518	hgsc.bcm.edu;broad.mit.edu	37	12	31604973	31604973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr12:31604973delA	ENST00000389082.5	-	5	1794	c.1530delT	c.(1528-1530)tttfs	p.F510fs	DENND5B_ENST00000306833.6_Frame_Shift_Del_p.F545fs|DENND5B_ENST00000354285.4_Frame_Shift_Del_p.F532fs|DENND5B_ENST00000536562.1_Frame_Shift_Del_p.F545fs|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	510	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACATCTGTGTAAAACGGTTAG	0.453																																					p.T511fs		.											.	DENND5B	114	0			c.1531delA						.						136.0	134.0	135.0					12																	31604973		1924	4145	6069	SO:0001589	frameshift_variant	160518	exon5			.	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1530delT	12.37:g.31604973delA	ENSP00000373734:p.Phe510fs	212.0	0.0		126.0	12.0	NM_144973	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Frame_Shift_Del	DEL	ENST00000389082.5	37	CCDS44857.1																																																																																			.		0.453	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	
TEX101	83639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	43920572	43920572	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr19:43920572G>A	ENST00000598265.1	+	4	422	c.256G>A	c.(256-258)Gag>Aag	p.E86K	TEX101_ENST00000253435.7_Missense_Mutation_p.E104K|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000602198.1_Missense_Mutation_p.E104K	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	86						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CCCGGAAGGGGAGGAGGCCAT	0.532																																					p.E104K		.											.	TEX101	28	0			c.G310A						.						151.0	140.0	144.0					19																	43920572		2203	4300	6503	SO:0001583	missense	83639	exon7			GAAGGGGAGGAGG	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.256G>A	19.37:g.43920572G>A	ENSP00000472769:p.Glu86Lys	138.0	0.0		108.0	17.0	NM_031451	Q7L5R2|Q9BPY7	Missense_Mutation	SNP	ENST00000598265.1	37	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	G	1.389	-0.581187	0.03854	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.69685	-0.42	4.26	-6.51	0.01878	.	3.000930	0.00951	N	0.002973	T	0.35740	0.0942	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.009;0.015	B;B	0.20577	0.01;0.03	T	0.44190	-0.9344	10	0.06099	T	0.92	0.5252	1.9355	0.03336	0.2081:0.1253:0.4201:0.2465	.	86;104	Q9BY14;Q9BY14-2	TX101_HUMAN;.	K	104;99	ENSP00000253435:E104K	ENSP00000253435:E104K	E	+	1	0	TEX101	48612412	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.072000	0.03434	-1.574000	0.01657	-1.108000	0.02087	GAG	.		0.532	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451	
VEZF1	7716	hgsc.bcm.edu;bcgsc.ca	37	17	56056604	56056604	+	Silent	SNP	T	T	C	rs57786397|rs138088904|rs369163670	byFrequency	TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr17:56056604T>C	ENST00000581208.1	-	5	1087	c.1047A>G	c.(1045-1047)caA>caG	p.Q349Q	VEZF1_ENST00000584396.1_Silent_p.Q340Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	349	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						gttgttgttgttgctgctgct	0.468													-|||	285	0.0569089	0.0938	0.036	5008	,	,		16688	0.0099		0.0656	False		,,,				2504	0.0613				p.Q349Q		.											VEZF1,colon,carcinoma,0,7	VEZF1	50	0			c.A1047G						.	-		1,4405		0,1,2202	161.0	149.0	153.0		1047		0.4	17	dbSNP_134	153	2,8598		0,2,4298	no	coding-synonymous	VEZF1	NM_007146.2		0,3,6500	CC,CT,TT		0.0233,0.0227,0.0231		349/522	56056604	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7716	exon5			TTGTTGTTGCTGC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1047A>G	17.37:g.56056604T>C		244.0	2.0		141.0	6.0	NM_007146		Silent	SNP	ENST00000581208.1	37	CCDS32687.1																																																																																			0.001		0.468	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1		
LRBA	987	hgsc.bcm.edu;bcgsc.ca	37	4	151773447	151773447	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr4:151773447A>G	ENST00000357115.3	-	23	3658	c.3415T>C	c.(3415-3417)Tct>Cct	p.S1139P	LRBA_ENST00000507224.1_Missense_Mutation_p.S1139P|LRBA_ENST00000510413.1_Missense_Mutation_p.S1139P|LRBA_ENST00000535741.1_Missense_Mutation_p.S1139P	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1139						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCGGCTTCAGATGCAGCTGGA	0.398																																					p.S1139P		.											.	LRBA	253	0			c.T3415C						.						97.0	95.0	96.0					4																	151773447		2203	4300	6503	SO:0001583	missense	987	exon23			CTTCAGATGCAGC	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3415T>C	4.37:g.151773447A>G	ENSP00000349629:p.Ser1139Pro	186.0	0.0		141.0	6.0	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.361289	0.24684	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.57752	0.8;0.95;0.8;0.38	5.87	1.99	0.26369	.	0.562244	0.17496	N	0.172173	T	0.32041	0.0816	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.14035	-1.0487	10	0.40728	T	0.16	.	2.1804	0.03873	0.5606:0.1258:0.1896:0.1239	.	1139;1139	P50851;P50851-2	LRBA_HUMAN;.	P	1139	ENSP00000446299:S1139P;ENSP00000421552:S1139P;ENSP00000349629:S1139P;ENSP00000422180:S1139P	ENSP00000349629:S1139P	S	-	1	0	LRBA	151992897	0.001000	0.12720	0.801000	0.32222	0.463000	0.32649	0.092000	0.15066	0.517000	0.28361	0.533000	0.62120	TCT	.		0.398	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
CEPT1	10390	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	111702071	111702071	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr1:111702071G>T	ENST00000545121.1	+	3	617	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	CEPT1_ENST00000357172.4_Missense_Mutation_p.G137W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	137					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TGCTATTGATGGGAAACAGGC	0.388																																					p.G137W		.											.	CEPT1	25	0			c.G409T						.						170.0	171.0	170.0					1																	111702071		2203	4300	6503	SO:0001583	missense	10390	exon3			ATTGATGGGAAAC	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.409G>T	1.37:g.111702071G>T	ENSP00000441980:p.Gly137Trp	345.0	0.0		273.0	11.0	NM_006090	Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	CCDS830.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516943	0.85495	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	D;D	0.95342	-3.68;-3.68	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99257	1.0889	10	0.87932	D	0	-18.579	16.3671	0.83335	0.0:0.0:1.0:0.0	.	137;137	Q9Y6K0;B3KN25	CEPT1_HUMAN;.	W	137	ENSP00000441980:G137W;ENSP00000349696:G137W	ENSP00000349696:G137W	G	+	1	0	CEPT1	111503594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.450000	0.82876	0.655000	0.94253	GGG	.		0.388	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090	
NTPCR	84284	hgsc.bcm.edu;bcgsc.ca	37	1	233105712	233105712	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr1:233105712A>G	ENST00000366628.5	+	4	439	c.352A>G	c.(352-354)Atg>Gtg	p.M118V	NTPCR_ENST00000490098.1_3'UTR|NTPCR_ENST00000366627.4_Missense_Mutation_p.M118V	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	118						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(1)|ovary(1)	4						GATTGGGAAGATGGAGCTCTT	0.502																																					p.M118V		.											.	NTPCR	15	0			c.A352G						.						150.0	132.0	138.0					1																	233105712		2203	4300	6503	SO:0001583	missense	84284	exon4			GGGAAGATGGAGC	BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"""human cancer-related NTPase"""		"""chromosome 1 open reading frame 57"""	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.352A>G	1.37:g.233105712A>G	ENSP00000355587:p.Met118Val	130.0	0.0		73.0	4.0	NM_032324		Missense_Mutation	SNP	ENST00000366628.5	37	CCDS1597.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385276	0.82792	.	.	ENSG00000135778	ENST00000366628;ENST00000366627	T;T	0.60171	0.21;0.21	4.59	4.59	0.56863	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.82724	0.5099	H	0.96080	3.765	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.995;0.994	D	0.88473	0.3063	10	0.87932	D	0	5.5874	14.4307	0.67249	1.0:0.0:0.0:0.0	.	118;118	Q9BSD7;Q5TDF0	NTPCR_HUMAN;.	V	118	ENSP00000355587:M118V;ENSP00000355586:M118V	ENSP00000355586:M118V	M	+	1	0	NTPCR	231172335	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	9.136000	0.94489	2.055000	0.61198	0.533000	0.62120	ATG	.		0.502	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092324.2	NM_032324	
TPX2	22974	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	30365314	30365314	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr20:30365314G>T	ENST00000300403.6	+	9	1283	c.755G>T	c.(754-756)aGc>aTc	p.S252I	TPX2_ENST00000340513.4_Missense_Mutation_p.S252I	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	252					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAATCAGTGAGCCAGGTCACC	0.428																																					p.S252I		.											.	TPX2	61	0			c.G755T						.						130.0	114.0	119.0					20																	30365314		2203	4300	6503	SO:0001583	missense	22974	exon9			CAGTGAGCCAGGT	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.755G>T	20.37:g.30365314G>T	ENSP00000300403:p.Ser252Ile	145.0	0.0		81.0	8.0	NM_012112	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.928142	0.34002	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.32515	1.45	5.36	3.36	0.38483	.	0.319078	0.35151	N	0.003412	T	0.19846	0.0477	N	0.22421	0.69	0.29470	N	0.857132	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12142	-1.0559	10	0.20046	T	0.44	-0.961	12.8578	0.57894	0.0:0.0:0.5725:0.4275	.	252;252	Q96RR5;Q9ULW0	.;TPX2_HUMAN	I	252	ENSP00000341145:S252I	ENSP00000300403:S252I	S	+	2	0	TPX2	29828975	0.494000	0.26043	1.000000	0.80357	0.993000	0.82548	0.640000	0.24705	0.706000	0.31912	0.655000	0.94253	AGC	.		0.428	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
CFAP46	54777	hgsc.bcm.edu;bcgsc.ca	37	10	134672635	134672635	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr10:134672635A>G	ENST00000368586.5	-	38	5415	c.5315T>C	c.(5314-5316)aTc>aCc	p.I1772T	TTC40_ENST00000263170.5_5'Flank	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCCACAGTCGATAAACTTTCT	0.512																																					p.I1772T		.											.	TTC40	100	0			c.T5315C						.																																			SO:0001583	missense	54777	exon38			CAGTCGATAAACT																												ENST00000368586.5:c.5315T>C	10.37:g.134672635A>G	ENSP00000357575:p.Ile1772Thr	162.0	0.0		74.0	4.0	NM_001200049		Missense_Mutation	SNP	ENST00000368586.5	37	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	a	4.874	0.162386	0.09287	.	.	ENSG00000171811	ENST00000368586	T	0.10382	2.88	4.17	-4.88	0.03113	.	.	.	.	.	T	0.03434	0.0099	N	0.03608	-0.345	0.09310	N	1	.	.	.	.	.	.	T	0.45512	-0.9256	7	0.20046	T	0.44	.	6.8483	0.24000	0.3525:0.1555:0.492:0.0	.	.	.	.	T	1772	ENSP00000357575:I1772T	ENSP00000357575:I1772T	I	-	2	0	C10orf93	134522625	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.167000	0.09940	-1.088000	0.03077	-1.019000	0.02448	ATC	.		0.512	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		
SACM1L	22908	hgsc.bcm.edu;bcgsc.ca	37	3	45744960	45744960	+	Silent	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr3:45744960A>G	ENST00000389061.5	+	2	267	c.63A>G	c.(61-63)gaA>gaG	p.E21E	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.K3R|SACM1L_ENST00000418611.1_5'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	21					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TTTATGTGGAAGCTTGTGATG	0.358																																					p.E21E		.											.	SACM1L	38	0			c.A63G						.						127.0	125.0	125.0					3																	45744960		2203	4300	6503	SO:0001819	synonymous_variant	22908	exon2			TGTGGAAGCTTGT	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.63A>G	3.37:g.45744960A>G		137.0	0.0		81.0	4.0	NM_014016	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	ENST00000389061.5	37	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185734	0.57909	.	.	ENSG00000211456	ENST00000438671;ENST00000541314	T	0.44881	0.91	5.33	2.5	0.30297	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.21740	N	0.99956	.	.	.	.	.	.	T	0.40534	-0.9558	6	0.87932	D	0	-14.8707	10.7129	0.45995	0.8459:0.0:0.1541:0.0	.	.	.	.	R	3	ENSP00000443373:K3R	ENSP00000411966:K3R	K	+	2	0	SACM1L	45719964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.370000	0.44240	0.817000	0.34445	0.482000	0.46254	AAG	.		0.358	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016	
ZSWIM2	151112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	187693106	187693106	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr2:187693106C>A	ENST00000295131.2	-	9	1546	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	503					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCAAATGACACAGTGGGTAAA	0.338																																					p.V503L		.											.	ZSWIM2	119	0			c.G1507T						.						63.0	63.0	63.0					2																	187693106		2203	4300	6503	SO:0001583	missense	151112	exon9			ATGACACAGTGGG	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1507G>T	2.37:g.187693106C>A	ENSP00000295131:p.Val503Leu	238.0	0.0		188.0	25.0	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	0.438	-0.900198	0.02472	.	.	ENSG00000163012	ENST00000295131	T	0.22336	1.96	5.6	-2.76	0.05896	.	1.923360	0.02246	N	0.066233	T	0.10895	0.0266	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25222	-1.0138	10	0.31617	T	0.26	1.1578	6.8641	0.24084	0.1214:0.3205:0.0:0.5581	.	503	Q8NEG5	ZSWM2_HUMAN	L	503	ENSP00000295131:V503L	ENSP00000295131:V503L	V	-	1	0	ZSWIM2	187401351	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.799000	0.04560	-0.434000	0.07275	-0.907000	0.02831	GTG	.		0.338	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521	
CYP1A2	1544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	75047231	75047231	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr15:75047231T>C	ENST00000343932.4	+	7	1416	c.1353T>C	c.(1351-1353)ttT>ttC	p.F451F		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	451				LF -> MLV (in Ref. 10; AAA52154). {ECO:0000305}.	alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	TGATGCTGTTTGGCATGGGCA	0.597																																					p.F451F		.											.	CYP1A2	70	0			c.T1353C						.						121.0	108.0	112.0					15																	75047231		2197	4296	6493	SO:0001819	synonymous_variant	1544	exon7			GCTGTTTGGCATG	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1353T>C	15.37:g.75047231T>C		151.0	0.0		64.0	8.0	NM_000761	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	CCDS32293.1																																																																																			.		0.597	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761	
TTC4	7268	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	55182348	55182348	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr1:55182348T>C	ENST00000371281.3	+	2	274	c.187T>C	c.(187-189)Tgt>Cgt	p.C63R	MROH7-TTC4_ENST00000414150.2_Silent_p.L1298L|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	63										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						TGACTTGGCTTGTCTCCAGTC	0.388																																					p.C63R		.											.	TTC4	21	0			c.T187C						.						98.0	94.0	95.0					1																	55182348		2203	4300	6503	SO:0001583	missense	7268	exon2			TTGGCTTGTCTCC		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.187T>C	1.37:g.55182348T>C	ENSP00000360329:p.Cys63Arg	75.0	0.0		46.0	5.0	NM_004623	Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	CCDS596.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240330	0.79912	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.13901	2.55	4.92	3.75	0.43078	.	.	.	.	.	T	0.28234	0.0697	M	0.78049	2.395	0.80722	D	1	P;D	0.56035	0.918;0.974	P;P	0.53861	0.451;0.736	T	0.03315	-1.1049	9	0.72032	D	0.01	-3.1047	10.0705	0.42330	0.0:0.0:0.1693:0.8307	.	63;74	O95801;Q5TA95	TTC4_HUMAN;.	R	63;74	ENSP00000360329:C63R	ENSP00000360329:C63R	C	+	1	0	TTC4	54954936	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.593000	0.74100	0.958000	0.37956	0.533000	0.62120	TGT	.		0.388	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623	
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	17153015	17153015	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr10:17153015G>C	ENST00000377833.4	-	9	983	c.918C>G	c.(916-918)atC>atG	p.I306M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	306	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACATTCATTGATATCTTCGC	0.453																																					p.I306M		.											.	CUBN	515	0			c.C918G						.						104.0	100.0	101.0					10																	17153015		2203	4300	6503	SO:0001583	missense	8029	exon9			TTCATTGATATCT	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.918C>G	10.37:g.17153015G>C	ENSP00000367064:p.Ile306Met	109.0	0.0		65.0	11.0	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795638	0.50208	.	.	ENSG00000107611	ENST00000377833	D	0.93547	-3.24	5.83	2.74	0.32292	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.289804	0.24640	N	0.036817	D	0.92355	0.7574	M	0.79614	2.46	0.80722	D	1	P	0.39717	0.684	P	0.45099	0.469	D	0.89301	0.3626	10	0.51188	T	0.08	.	3.7944	0.08733	0.4027:0.1787:0.4186:0.0	.	306	O60494	CUBN_HUMAN	M	306	ENSP00000367064:I306M	ENSP00000367064:I306M	I	-	3	3	CUBN	17193021	0.966000	0.33281	0.981000	0.43875	0.794000	0.44872	0.900000	0.28431	0.767000	0.33267	0.650000	0.86243	ATC	.		0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CDC27	996	hgsc.bcm.edu;bcgsc.ca	37	17	45234327	45234327	+	Missense_Mutation	SNP	C	C	T	rs7350889		TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr17:45234327C>T	ENST00000066544.3	-	7	887	c.794G>A	c.(793-795)gGt>gAt	p.G265D	CDC27_ENST00000531206.1_Missense_Mutation_p.G265D|CDC27_ENST00000446365.2_Missense_Mutation_p.G204D|CDC27_ENST00000527547.1_Missense_Mutation_p.G265D|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	265					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.G265D(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAAACTTCGACCAGTTTTTGG	0.368																																					p.G265D		.											CDC27_ENST00000531206,NS,adenoma,0,4	CDC27	337	2	Substitution - Missense(2)	skin(2)	c.G794A						.						60.0	65.0	63.0					17																	45234327		2201	4295	6496	SO:0001583	missense	996	exon7			CTTCGACCAGTTT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.794G>A	17.37:g.45234327C>T	ENSP00000066544:p.Gly265Asp	147.0	1.0		110.0	8.0	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725453	0.48833	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.68181	-0.31;-0.3;-0.11;-0.31;0.86	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.32350	0.251;0.366;0.247;0.251	B;B;B;B	0.27076	0.045;0.056;0.076;0.055	T	0.51694	-0.8673	10	0.33141	T	0.24	1.6987	17.2083	0.86924	0.0:1.0:0.0:0.0	rs7350889;rs7350889	204;265;265;265	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	D	265;265;204;265;265	ENSP00000066544:G265D;ENSP00000434614:G265D;ENSP00000392802:G204D;ENSP00000437339:G265D;ENSP00000432105:G265D	ENSP00000066544:G265D	G	-	2	0	CDC27	42589326	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.618000	0.67722	2.665000	0.90641	0.460000	0.39030	GGT	.		0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
DSG3	1830	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	29045290	29045290	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr18:29045290G>C	ENST00000257189.4	+	10	1364	c.1281G>C	c.(1279-1281)atG>atC	p.M427I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GATATGTCATGGGACGTAACG	0.264																																					p.M427I		.											.	DSG3	172	0			c.G1281C						.						67.0	73.0	71.0					18																	29045290		2203	4300	6503	SO:0001583	missense	1830	exon10			TGTCATGGGACGT	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1281G>C	18.37:g.29045290G>C	ENSP00000257189:p.Met427Ile	277.0	0.0		179.0	12.0	NM_001944	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	3.256	-0.152135	0.06585	.	.	ENSG00000134757	ENST00000257189	T	0.54479	0.57	5.82	4.94	0.65067	Cadherin (3);Cadherin-like (1);	0.234251	0.29722	N	0.011370	T	0.20861	0.0502	N	0.03000	-0.44	0.26889	N	0.967371	B	0.11235	0.004	B	0.10450	0.005	T	0.31194	-0.9952	10	0.02654	T	1	.	5.5788	0.17238	0.1735:0.1736:0.653:0.0	.	427	P32926	DSG3_HUMAN	I	427	ENSP00000257189:M427I	ENSP00000257189:M427I	M	+	3	0	DSG3	27299288	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	1.963000	0.40452	1.436000	0.47453	0.467000	0.42956	ATG	.		0.264	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
MOCS2	4338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	5	52402917	52402917	+	Nonsense_Mutation	SNP	C	C	A	rs34034664		TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr5:52402917C>A	ENST00000396954.3	-	3	765	c.88G>T	c.(88-90)Gag>Tag	p.E30*	MOCS2_ENST00000510818.2_3'UTR|CTD-2366F13.1_ENST00000502171.2_RNA|CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000582677.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000527216.1_3'UTR|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000508922.1_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CTAGATGGCTCAAAAGCACTA	0.433																																					p.E30X		.											.	MOCS2	28	0			c.G88T						.						96.0	82.0	87.0					5																	52402917		2203	4300	6503	SO:0001587	stop_gained	4338	exon3			ATGGCTCAAAAGC	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.88G>T	5.37:g.52402917C>A	ENSP00000380157:p.Glu30*	91.0	0.0		58.0	12.0	NM_004531		Nonsense_Mutation	SNP	ENST00000396954.3	37	CCDS3958.1	.	.	.	.	.	.	.	.	.	.	C	41	8.846833	0.98976	.	.	ENSG00000164172	ENST00000396954;ENST00000527216	.	.	.	5.92	4.1	0.47936	.	0.624751	0.16259	N	0.222307	.	.	.	.	.	.	0.20307	N	0.999912	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-13.4529	10.2954	0.43620	0.0:0.6788:0.2524:0.0688	.	.	.	.	X	30	.	ENSP00000380157:E30X	E	-	1	0	MOCS2	52438674	0.001000	0.12720	0.004000	0.12327	0.178000	0.23041	0.690000	0.25451	0.803000	0.34113	0.655000	0.94253	GAG	.		0.433	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418	
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	76972657	76972657	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chrX:76972657T>C	ENST00000373344.5	-	2	298	c.84A>G	c.(82-84)gaA>gaG	p.E28E	ATRX_ENST00000395603.3_Silent_p.E28E|ATRX_ENST00000373341.1_5'UTR|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	28					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTCTTCAGATTCTTCTGATG	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.E28E		.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX	833	1	Unknown(1)	bone(1)	c.A84G						.						172.0	159.0	163.0					X																	76972657		2203	4296	6499	SO:0001819	synonymous_variant	546	exon2			TTCAGATTCTTCT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.84A>G	X.37:g.76972657T>C		84.0	0.0		55.0	7.0	NM_138270	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	CCDS14434.1																																																																																			.		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
CEP97	79598	hgsc.bcm.edu;bcgsc.ca	37	3	101445525	101445525	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr3:101445525A>G	ENST00000341893.3	+	2	883	c.131A>G	c.(130-132)gAt>gGt	p.D44G	CEP97_ENST00000494050.1_Missense_Mutation_p.D44G|CEP97_ENST00000327230.4_Missense_Mutation_p.D44G			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	44					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGATTCTGGATAAAAATCAG	0.348																																					p.D44G		.											.	CEP97	122	0			c.A131G						.						65.0	68.0	67.0					3																	101445525		2203	4300	6503	SO:0001583	missense	79598	exon2			TTCTGGATAAAAA	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.131A>G	3.37:g.101445525A>G	ENSP00000342510:p.Asp44Gly	95.0	0.0		73.0	4.0	NM_024548	B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.195015	0.78902	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.24350	1.86;1.86;2.26	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	N	0.25992	0.78	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.987	T	0.31503	-0.9941	10	0.72032	D	0.01	-20.1694	14.7073	0.69200	1.0:0.0:0.0:0.0	.	44;44;44	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	G	44	ENSP00000342510:D44G;ENSP00000325881:D44G;ENSP00000418185:D44G	ENSP00000325881:D44G	D	+	2	0	CEP97	102928215	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.056000	0.89455	1.928000	0.55862	0.533000	0.62120	GAT	.		0.348	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548	
ASTE1	28990	hgsc.bcm.edu;bcgsc.ca	37	3	130733158	130733158	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr3:130733158T>C	ENST00000264992.3	-	6	2224	c.1783A>G	c.(1783-1785)Agc>Ggc	p.S595G	ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000422190.2_Intron|ASTE1_ENST00000514044.1_Missense_Mutation_p.S620G|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000328560.8_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	595					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GGACATATGCTCAGGAGACTT	0.433																																					p.S595G		.											.	ASTE1	67	0			c.A1783G						.						79.0	80.0	80.0					3																	130733158		2203	4300	6503	SO:0001583	missense	28990	exon6			ATATGCTCAGGAG	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1783A>G	3.37:g.130733158T>C	ENSP00000264992:p.Ser595Gly	225.0	0.0		121.0	5.0	NM_014065	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	T	9.905	1.207903	0.22205	.	.	ENSG00000034533	ENST00000514044;ENST00000264992	.	.	.	5.81	3.46	0.39613	.	0.332927	0.38778	N	0.001564	T	0.41673	0.1169	L	0.50333	1.59	0.32860	D	0.507849	B;B	0.28713	0.22;0.1	B;B	0.22386	0.039;0.024	T	0.49437	-0.8940	9	0.48119	T	0.1	-2.2679	6.87	0.24115	0.0:0.0796:0.1627:0.7578	.	620;595	D6RG30;Q2TB18	.;ASTE1_HUMAN	G	620;595	.	ENSP00000264992:S595G	S	-	1	0	ASTE1	132215848	0.000000	0.05858	0.713000	0.30519	0.288000	0.27193	0.044000	0.13992	0.485000	0.27652	0.455000	0.32223	AGC	.		0.433	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
CXorf22	170063	hgsc.bcm.edu;bcgsc.ca	37	X	35966467	35966467	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chrX:35966467T>C	ENST00000297866.5	+	4	620	c.554T>C	c.(553-555)aTc>aCc	p.I185T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	185										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CAATTACCCATCCTCATTTTT	0.408																																					p.I185T		.											.	CXorf22	272	0			c.T554C						.						207.0	163.0	178.0					X																	35966467		2202	4300	6502	SO:0001583	missense	170063	exon4			TACCCATCCTCAT	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.554T>C	X.37:g.35966467T>C	ENSP00000297866:p.Ile185Thr	78.0	0.0		52.0	5.0	NM_152632	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828867	0.32329	.	.	ENSG00000165164	ENST00000297866	T	0.42900	0.96	4.91	4.91	0.64330	.	0.297149	0.36628	N	0.002483	T	0.53530	0.1802	M	0.70275	2.135	0.09310	N	0.999999	P	0.51240	0.943	P	0.51777	0.679	T	0.53251	-0.8465	10	0.62326	D	0.03	-0.5245	13.0394	0.58891	0.0:0.0:0.0:1.0	.	185	Q6ZTR5	CX022_HUMAN	T	185	ENSP00000297866:I185T	ENSP00000297866:I185T	I	+	2	0	CXorf22	35876388	0.998000	0.40836	0.398000	0.26321	0.084000	0.17831	3.518000	0.53451	1.739000	0.51704	0.433000	0.28618	ATC	.		0.408	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
PIK3CA	5290	hgsc.bcm.edu;bcgsc.ca	37	3	178943817	178943817	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr3:178943817T>C	ENST00000263967.3	+	17	2641	c.2484T>C	c.(2482-2484)ggT>ggC	p.G828G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	828	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAAATCAAGGTCTTGATCTTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.G828G	Colon(199;1504 1750 3362 26421 31210 32040)	.		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	.	PIK3CA	8460	0			c.T2484C						.						94.0	88.0	90.0					3																	178943817		1841	4090	5931	SO:0001819	synonymous_variant	5290	exon17			TCAAGGTCTTGAT		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2484T>C	3.37:g.178943817T>C		142.0	0.0		75.0	4.0	NM_006218	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																			.		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MED13L	23389	hgsc.bcm.edu;bcgsc.ca	37	12	116413459	116413459	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr12:116413459C>T	ENST00000281928.3	-	24	5655	c.5449G>A	c.(5449-5451)Ggt>Agt	p.G1817S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1817						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTCGCCTCACCAAACGTCTCT	0.522																																					p.G1817S		.											.	MED13L	193	0			c.G5449A						.						105.0	105.0	105.0					12																	116413459		2203	4300	6503	SO:0001583	missense	23389	exon24			CCTCACCAAACGT	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5449G>A	12.37:g.116413459C>T	ENSP00000281928:p.Gly1817Ser	138.0	0.0		75.0	4.0	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.586455|5.586455	0.96578|0.96578	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000281928|ENST00000552447	D|.	0.82081|.	-1.57|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.049130|.	0.85682|.	D|.	0.000000|.	T|.	0.76227|.	0.3958|.	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.61070|.	0.883|.	T|.	0.72915|.	-0.4147|.	10|.	0.52906|.	T|.	0.07|.	-16.747|-16.747	20.3473|20.3473	0.98799|0.98799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1817|.	Q71F56|.	MD13L_HUMAN|.	S|X	1817|9	ENSP00000281928:G1817S|.	ENSP00000281928:G1817S|.	G|W	-|-	1|2	0|0	MED13L|MED13L	114897842|114897842	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.998000|0.998000	0.95712|0.95712	4.527000|4.527000	0.60573|0.60573	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGT|TGG	.		0.522	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
ANKRD32	84250	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	93964624	93964624	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr5:93964624A>G	ENST00000265140.5	+	2	528	c.109A>G	c.(109-111)Agt>Ggt	p.S37G		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	37	BRCT 1.					centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TTTTATTAAGAGTGAGGTAAG	0.303																																					p.S37G		.											.	ANKRD32	117	0			c.A109G						.						94.0	84.0	87.0					5																	93964624		692	1588	2280	SO:0001583	missense	84250	exon2			ATTAAGAGTGAGG	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.109A>G	5.37:g.93964624A>G	ENSP00000265140:p.Ser37Gly	103.0	0.0		83.0	4.0	NM_032290	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126518	0.56721	.	.	ENSG00000133302	ENST00000265140;ENST00000504099	T;T	0.66815	-0.23;-0.23	5.47	5.47	0.80525	BRCT (2);	0.757107	0.11780	N	0.530310	T	0.61035	0.2315	L	0.42245	1.32	0.32350	N	0.558555	P	0.44006	0.824	B	0.37015	0.239	T	0.70525	-0.4848	10	0.72032	D	0.01	.	15.5395	0.76031	1.0:0.0:0.0:0.0	.	37	Q9BQI6	ANR32_HUMAN	G	37	ENSP00000265140:S37G;ENSP00000425022:S37G	ENSP00000265140:S37G	S	+	1	0	ANKRD32	93990380	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.188000	0.72045	2.089000	0.63090	0.533000	0.62120	AGT	.		0.303	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290	
LAMA1	284217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	7016513	7016513	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr18:7016513G>T	ENST00000389658.3	-	21	3059	c.2966C>A	c.(2965-2967)gCc>gAc	p.A989D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	989	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCCTGGTAGGCGTAGAAGCC	0.542																																					p.A989D		.											.	LAMA1	458	0			c.C2966A						.						143.0	99.0	114.0					18																	7016513		2203	4300	6503	SO:0001583	missense	284217	exon21			TGGTAGGCGTAGA	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2966C>A	18.37:g.7016513G>T	ENSP00000374309:p.Ala989Asp	66.0	0.0		56.0	10.0	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	4.633	0.117620	0.08881	.	.	ENSG00000101680	ENST00000389658	T	0.61158	0.13	5.8	-0.853	0.10709	EGF-like, laminin (4);	0.296144	0.30732	N	0.008998	T	0.32734	0.0839	N	0.05608	-0.0099999999999999	0.09310	N	1	B	0.32653	0.379	B	0.34536	0.185	T	0.28933	-1.0028	10	0.59425	D	0.04	.	8.7892	0.34841	0.0587:0.4137:0.4202:0.1074	.	989	P25391	LAMA1_HUMAN	D	989	ENSP00000374309:A989D	ENSP00000374309:A989D	A	-	2	0	LAMA1	7006513	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	0.480000	0.22244	-0.143000	0.11334	-0.149000	0.13747	GCC	.		0.542	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
INHA	3623	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	220439447	220439447	+	Silent	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr2:220439447A>G	ENST00000243786.2	+	2	480	c.300A>G	c.(298-300)agA>agG	p.R100R	INHA_ENST00000489456.1_3'UTR|OBSL1_ENST00000491370.1_5'Flank	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	100					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGCTGCCAGAGGGCTGGCCC	0.622																																					p.R100R		.											.	INHA	30	0			c.A300G						.						18.0	20.0	19.0					2																	220439447		2200	4299	6499	SO:0001819	synonymous_variant	3623	exon2			TGCCAGAGGGCTG		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.300A>G	2.37:g.220439447A>G		113.0	0.0		78.0	4.0	NM_002191	A8K8H5	Silent	SNP	ENST00000243786.2	37	CCDS2444.1																																																																																			.		0.622	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1		
MPDZ	8777	hgsc.bcm.edu;bcgsc.ca	37	9	13150535	13150535	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr9:13150535A>G	ENST00000319217.7	-	25	3852	c.3605T>C	c.(3604-3606)tTg>tCg	p.L1202S	MPDZ_ENST00000546205.1_Missense_Mutation_p.L1216S|MPDZ_ENST00000536827.1_Missense_Mutation_p.L1202S|MPDZ_ENST00000538841.1_Missense_Mutation_p.L94S|MPDZ_ENST00000541718.1_Missense_Mutation_p.L1202S|MPDZ_ENST00000381015.4_Missense_Mutation_p.L1202S|MPDZ_ENST00000447879.1_Missense_Mutation_p.L1202S|MPDZ_ENST00000381022.2_Missense_Mutation_p.L1202S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1202	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCAGGTTTCAAGGTTCCATT	0.383																																					p.L1202S		.											.	MPDZ	324	0			c.T3605C						.						164.0	162.0	163.0					9																	13150535		1848	4092	5940	SO:0001583	missense	8777	exon25			GGTTTCAAGGTTC	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3605T>C	9.37:g.13150535A>G	ENSP00000320006:p.Leu1202Ser	157.0	0.0		89.0	5.0	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	A	16.39	3.109717	0.56398	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359;ENST00000542239	T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.95	5.95	0.96441	.	0.000000	0.36591	N	0.002513	T	0.80497	0.4634	H	0.97291	3.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.87530	0.2452	10	0.87932	D	0	.	16.4159	0.83738	1.0:0.0:0.0:0.0	.	1202;94;1202;1152;1202	B7ZMI4;B7ZB24;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.	S	1202;1202;1202;208;94;1202;1202;1202;1152;1216;94;94	ENSP00000320006:L1202S;ENSP00000439807:L1202S;ENSP00000370410:L1202S;ENSP00000444230:L208S;ENSP00000444717:L94S;ENSP00000444151:L1202S;ENSP00000415208:L1202S;ENSP00000370403:L1202S;ENSP00000446358:L1216S;ENSP00000389705:L94S;ENSP00000443672:L94S	ENSP00000320006:L1202S	L	-	2	0	MPDZ	13140535	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	TTG	.		0.383	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
FBN2	2201	hgsc.bcm.edu;bcgsc.ca	37	5	127712455	127712455	+	Silent	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr5:127712455A>G	ENST00000508053.1	-	20	2915	c.1941T>C	c.(1939-1941)ttT>ttC	p.F647F	FBN2_ENST00000262464.4_Silent_p.F647F|FBN2_ENST00000508989.1_Silent_p.F614F|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	647	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAGCCAAGACAAATCCTGGTT	0.413																																					p.F647F		.											.	FBN2	858	0			c.T1941C						.						248.0	211.0	223.0					5																	127712455		2203	4300	6503	SO:0001819	synonymous_variant	2201	exon14			CAAGACAAATCCT	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1941T>C	5.37:g.127712455A>G		160.0	0.0		85.0	4.0	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																			.		0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
ZNF639	51193	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	179051221	179051221	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr3:179051221A>G	ENST00000326361.3	+	7	914	c.469A>G	c.(469-471)Aac>Gac	p.N157D	ZNF639_ENST00000496856.1_Missense_Mutation_p.N157D|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000484866.1_Missense_Mutation_p.N157D	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	157					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGAGACAGAAAACAATTCCTC	0.418																																					p.N157D		.											.	ZNF639	45	0			c.A469G						.						69.0	70.0	70.0					3																	179051221		2203	4300	6503	SO:0001583	missense	51193	exon7			ACAGAAAACAATT	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.469A>G	3.37:g.179051221A>G	ENSP00000325634:p.Asn157Asp	230.0	0.0		152.0	7.0	NM_016331	A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.712109	0.68730	.	.	ENSG00000121864	ENST00000496856;ENST00000491818;ENST00000326361;ENST00000466264;ENST00000484866	T;T;T;T	0.03689	3.84;3.84;4.47;3.84	5.87	5.87	0.94306	.	0.191571	0.46442	N	0.000292	T	0.09379	0.0231	L	0.29908	0.895	0.29633	N	0.845314	D	0.63880	0.993	D	0.70935	0.971	T	0.04268	-1.0964	10	0.56958	D	0.05	.	10.8542	0.46789	0.9299:0.0:0.0701:0.0	.	157	Q9UID6	ZN639_HUMAN	D	157	ENSP00000417740:N157D;ENSP00000325634:N157D;ENSP00000419650:N157D;ENSP00000418766:N157D	ENSP00000325634:N157D	N	+	1	0	ZNF639	180533915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.603000	0.61105	2.371000	0.80710	0.533000	0.62120	AAC	.		0.418	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331	
CEP350	9857	hgsc.bcm.edu;bcgsc.ca	37	1	180062484	180062484	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr1:180062484A>G	ENST00000367607.3	+	34	7662	c.7244A>G	c.(7243-7245)aAg>aGg	p.K2415R	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2415					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGCAGAGATAAGCCACAGCCA	0.418																																					p.K2415R		.											.	CEP350	418	0			c.A7244G						.						30.0	28.0	29.0					1																	180062484		2203	4300	6503	SO:0001583	missense	9857	exon34			GAGATAAGCCACA	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7244A>G	1.37:g.180062484A>G	ENSP00000356579:p.Lys2415Arg	214.0	0.0		149.0	6.0	NM_014810	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	7.515	0.655519	0.14580	.	.	ENSG00000135837	ENST00000367607	T	0.57752	0.38	5.38	3.01	0.34805	.	0.304180	0.23105	N	0.051869	T	0.38108	0.1028	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.20371	-1.0277	9	.	.	.	.	8.4496	0.32862	0.845:0.0:0.155:0.0	.	2415;2415	E7EU22;Q5VT06	.;CE350_HUMAN	R	2415	ENSP00000356579:K2415R	.	K	+	2	0	CEP350	178329107	1.000000	0.71417	0.712000	0.30502	0.761000	0.43186	2.011000	0.40922	0.341000	0.23771	0.528000	0.53228	AAG	.		0.418	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
MFSD2B	388931	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	24236185	24236185	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr2:24236185A>G	ENST00000406420.3	+	2	143	c.127A>G	c.(127-129)Aca>Gca	p.T43A	MFSD2B_ENST00000338315.4_Missense_Mutation_p.T43A	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	43					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CTCATTCTGTACAAAGGTGTG	0.542																																					p.T43A		.											.	MFSD2B	45	0			c.A127G						.						59.0	59.0	59.0					2																	24236185		1948	4148	6096	SO:0001583	missense	388931	exon2			TTCTGTACAAAGG		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.127A>G	2.37:g.24236185A>G	ENSP00000385527:p.Thr43Ala	75.0	0.0		41.0	4.0	NM_001080473	B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984662	0.53934	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	T;T	0.18502	2.21;2.21	5.49	4.27	0.50696	Major facilitator superfamily domain, general substrate transporter (1);	0.466367	0.23137	U	0.051510	T	0.16171	0.0389	L	0.44542	1.39	0.31522	N	0.662257	B	0.28258	0.205	B	0.32393	0.145	T	0.06427	-1.0827	10	0.35671	T	0.21	-4.5516	10.6471	0.45626	0.8564:0.0:0.0:0.1436	.	43	A6NFX1	MFS2B_HUMAN	A	43	ENSP00000385527:T43A;ENSP00000342501:T43A	ENSP00000342501:T43A	T	+	1	0	MFSD2B	24089689	0.998000	0.40836	0.857000	0.33713	0.695000	0.40330	3.599000	0.54045	2.225000	0.72522	0.379000	0.24179	ACA	.		0.542	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473	
ULK2	9706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	19705089	19705089	+	Splice_Site	SNP	C	C	A			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr17:19705089C>A	ENST00000395544.4	-	16	1941		c.e16+1		ULK2_ENST00000580130.1_Splice_Site|ULK2_ENST00000361658.2_Splice_Site	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2						autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACTCTACTTACCCAAAGGGGA	0.463																																					.		.											.	ULK2	142	0			c.1441+1G>T						.						123.0	124.0	124.0					17																	19705089		2203	4300	6503	SO:0001630	splice_region_variant	9706	exon17			TACTTACCCAAAG	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1441+1G>T	17.37:g.19705089C>A		98.0	0.0		71.0	8.0	NM_014683	A8MY69|O75119	Splice_Site	SNP	ENST00000395544.4	37	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993195	0.74703	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	.	.	.	5.6	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9996	0.71462	0.1434:0.8566:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK2	19645681	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.261000	0.78400	1.354000	0.45846	0.655000	0.94253	.	.		0.463	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683	Intron
TMC1	117531	hgsc.bcm.edu;bcgsc.ca	37	9	75403363	75403363	+	Silent	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr9:75403363A>G	ENST00000297784.5	+	14	1533	c.993A>G	c.(991-993)gcA>gcG	p.A331A	TMC1_ENST00000396237.3_Silent_p.A331A|TMC1_ENST00000340019.3_Silent_p.A331A	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	331					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CTGAAACAGCAGACAACAAAT	0.398																																					p.A331A	Pancreas(75;173 1345 14232 34245 43413)	.											.	TMC1	87	0			c.A993G						.						79.0	74.0	76.0					9																	75403363		2203	4300	6503	SO:0001819	synonymous_variant	117531	exon14			AACAGCAGACAAC	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.993A>G	9.37:g.75403363A>G		122.0	0.0		90.0	4.0	NM_138691	A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	CCDS6643.1																																																																																			.		0.398	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		
ANGPT2	285	hgsc.bcm.edu;bcgsc.ca	37	8	6420324	6420324	+	Silent	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr8:6420324A>G	ENST00000325203.5	-	1	606	c.132T>C	c.(130-132)acT>acC	p.T44T	ANGPT2_ENST00000523120.1_Silent_p.T44T|ANGPT2_ENST00000338312.6_Silent_p.T44T|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Silent_p.T44T			O15123	ANGP2_HUMAN	angiopoietin 2	44					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GCAGGAGGAAAGTGTAGCTGC	0.552																																					p.T44T		.											.	ANGPT2	126	0			c.T132C						.						127.0	102.0	111.0					8																	6420324		2203	4300	6503	SO:0001819	synonymous_variant	285	exon1			GAGGAAAGTGTAG	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.132T>C	8.37:g.6420324A>G		195.0	0.0		92.0	4.0	NM_001118888	A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Silent	SNP	ENST00000325203.5	37	CCDS5958.1																																																																																			.		0.552	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147	
PIWIL3	440822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	25153964	25153964	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr22:25153964G>A	ENST00000332271.5	-	4	682	c.266C>T	c.(265-267)cCc>cTc	p.P89L	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	89					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCCTGCAAGGGCGCTGTATG	0.443																																					p.P89L		.											.	PIWIL3	115	0			c.C266T						.						201.0	209.0	206.0					22																	25153964		2203	4300	6503	SO:0001583	missense	440822	exon4			TGCAAGGGCGCTG	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.266C>T	22.37:g.25153964G>A	ENSP00000330031:p.Pro89Leu	177.0	0.0		95.0	20.0	NM_001008496		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.184821	0.01620	.	.	ENSG00000184571	ENST00000332271	T	0.04275	3.66	2.21	1.18	0.20946	.	1.020570	0.07843	U	0.963402	T	0.02807	0.0084	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46442	-0.9191	10	0.30854	T	0.27	0.0061	6.8309	0.23909	0.1555:0.0:0.8445:0.0	.	89;89	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	L	89	ENSP00000330031:P89L	ENSP00000330031:P89L	P	-	2	0	PIWIL3	23483964	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.157000	0.16402	0.504000	0.28082	0.455000	0.32223	CCC	.		0.443	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
SUGT1	10910	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	13	53237230	53237230	+	Splice_Site	SNP	G	G	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr13:53237230G>C	ENST00000343788.6	+	8	560		c.e8-1		SUGT1_ENST00000483074.1_Splice_Site|SUGT1_ENST00000310528.8_Splice_Site|SUGT1_ENST00000535397.1_Splice_Site	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)						innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		TGTTTTAATAGGCTCAGAATC	0.303																																					.		.											.	SUGT1	37	0			c.479-1G>C						.						114.0	110.0	112.0					13																	53237230		2202	4297	6499	SO:0001630	splice_region_variant	10910	exon8			TTAATAGGCTCAG	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.479-1G>C	13.37:g.53237230G>C		278.0	0.0		187.0	16.0	NM_001130912	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Splice_Site	SNP	ENST00000343788.6	37	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254771	0.59212	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9866	0.64339	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUGT1	52135231	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.262000	0.58847	2.438000	0.82558	0.555000	0.69702	.	.		0.303	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2		Intron
STRIP2	57464	hgsc.bcm.edu;bcgsc.ca	37	7	129079892	129079892	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr7:129079892T>C	ENST00000249344.2	+	2	199	c.159T>C	c.(157-159)ttT>ttC	p.F53F	STRIP2_ENST00000435494.2_Silent_p.F53F	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	53					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											CTCTGGAGTTTGAGTATGGAG	0.517																																					p.F53F		.											.	.	.	0			c.T159C						.						119.0	109.0	112.0					7																	129079892		2203	4300	6503	SO:0001819	synonymous_variant	57464	exon2			GGAGTTTGAGTAT	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.159T>C	7.37:g.129079892T>C		267.0	0.0		169.0	7.0	NM_020704	Q8WUZ4	Silent	SNP	ENST00000249344.2	37	CCDS34752.1																																																																																			.		0.517	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	
CTNNB1	1499	hgsc.bcm.edu;bcgsc.ca	37	3	41266610	41266610	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr3:41266610T>C	ENST00000349496.5	+	4	687	c.407T>C	c.(406-408)gTt>gCt	p.V136A	CTNNB1_ENST00000396185.3_Missense_Mutation_p.V136A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.V136A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.V136A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.V129A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	136					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_Q143del(7)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.I35_K170del(1)|p.E15_I140>V(1)|p.A20_N141del(1)|p.D11_Y142>H(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AAACATGCAGTTGTAAACTTG	0.448		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.V136A	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	.	CTNNB1	4904	23	Deletion - In frame(16)|Complex - deletion inframe(7)	liver(22)|skin(1)	c.T407C						.						147.0	128.0	134.0					3																	41266610		2203	4300	6503	SO:0001583	missense	1499	exon4	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	ATGCAGTTGTAAA	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.407T>C	3.37:g.41266610T>C	ENSP00000344456:p.Val136Ala	77.0	0.0		69.0	12.0	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766195	0.69878	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T;T	0.66638	-0.22;0.96;-0.22;-0.22;-0.22;-0.22	5.4	5.4	0.78164	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70919	0.3279	L	0.58810	1.83	0.80722	D	1	B;B	0.32425	0.171;0.371	B;P	0.44447	0.202;0.45	T	0.67086	-0.5759	10	0.24483	T	0.36	-2.7182	15.7251	0.77751	0.0:0.0:0.0:1.0	.	64;136	B4DSW9;P35222	.;CTNB1_HUMAN	A	136;136;136;136;129;136	ENSP00000385604:V136A;ENSP00000412219:V136A;ENSP00000379486:V136A;ENSP00000344456:V136A;ENSP00000411226:V129A;ENSP00000379488:V136A	ENSP00000344456:V136A	V	+	2	0	CTNNB1	41241614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.175000	0.68902	0.533000	0.62120	GTT	.		0.448	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
GPR161	23432	hgsc.bcm.edu;bcgsc.ca	37	1	168066409	168066409	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr1:168066409T>C	ENST00000367838.1	-	5	749	c.436A>G	c.(436-438)Atg>Gtg	p.M146V	GPR161_ENST00000367835.1_Missense_Mutation_p.M146V|GPR161_ENST00000367836.1_Missense_Mutation_p.M14V|GPR161_ENST00000539777.1_Missense_Mutation_p.M68V|GPR161_ENST00000537209.1_Missense_Mutation_p.M166V|GPR161_ENST00000271357.5_Missense_Mutation_p.M146V|GPR161_ENST00000546300.1_Missense_Mutation_p.M32V|GPR161_ENST00000361697.2_Missense_Mutation_p.M146V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	146					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					ACAAGTGCCATCACAGCCCGG	0.532																																					p.M166V		.											.	GPR161	56	0			c.A496G						.						82.0	69.0	74.0					1																	168066409		2203	4300	6503	SO:0001583	missense	23432	exon4			GTGCCATCACAGC	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.436A>G	1.37:g.168066409T>C	ENSP00000356812:p.Met146Val	102.0	0.0		72.0	4.0	NM_001267609	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	T	7.511	0.654590	0.14580	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	4.92	0.165	0.14995	GPCR, rhodopsin-like superfamily (1);	0.292632	0.37530	N	0.002045	T	0.14830	0.0358	N	0.03071	-0.42	0.28415	N	0.91801	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.002;0.001;0.001;0.0;0.0;0.001	T	0.10109	-1.0644	9	0.19147	T	0.46	-29.3646	6.4485	0.21890	0.0:0.2759:0.4948:0.2293	.	166;32;68;166;146;146	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	V	146;146;14;146;32;68;166;146	ENSP00000356812:M146V;ENSP00000271357:M146V;ENSP00000356810:M14V;ENSP00000356809:M146V;ENSP00000444348:M32V;ENSP00000437576:M68V;ENSP00000441039:M166V;ENSP00000355194:M146V	ENSP00000271357:M146V	M	-	1	0	GPR161	166333033	0.188000	0.23250	0.710000	0.30468	0.960000	0.62799	0.109000	0.15417	0.210000	0.20664	0.459000	0.35465	ATG	.		0.532	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
DHDH	27294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	49442937	49442937	+	Missense_Mutation	SNP	G	G	T	rs35453148	byFrequency	TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr19:49442937G>T	ENST00000221403.2	+	4	638	c.598G>T	c.(598-600)Gtg>Ttg	p.V200L	DHDH_ENST00000522614.1_Missense_Mutation_p.V200L|DHDH_ENST00000523250.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	200			V -> M (in dbSNP:rs35453148).		carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.V200M(1)		central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GATTTCTGTCGTGGGAAGGCG	0.542																																					p.V200L		.											DHDH,brainstem,primitive_neuroectodermal_tumour-medulloblastoma,0,1	DHDH	35	1	Substitution - Missense(1)	central_nervous_system(1)	c.G598T						.						106.0	109.0	108.0					19																	49442937		2203	4300	6503	SO:0001583	missense	27294	exon4			TCTGTCGTGGGAA	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.598G>T	19.37:g.49442937G>T	ENSP00000221403:p.Val200Leu	52.0	0.0		32.0	4.0	NM_014475		Missense_Mutation	SNP	ENST00000221403.2	37	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	G	8.545	0.874201	0.17395	.	.	ENSG00000104808	ENST00000221403;ENST00000522614	T;T	0.21191	2.02;2.02	5.12	-1.8	0.07907	.	0.904653	0.09763	N	0.758985	T	0.16896	0.0406	L	0.45581	1.43	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.34153	-0.9840	10	0.24483	T	0.36	-6.9556	9.9213	0.41466	0.461:0.0:0.539:0.0	.	200	Q9UQ10	DHDH_HUMAN	L	200	ENSP00000221403:V200L;ENSP00000428672:V200L	ENSP00000221403:V200L	V	+	1	0	DHDH	54134749	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.091000	0.11146	-0.183000	0.10585	-0.340000	0.08031	GTG	.		0.542	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475	
SV2C	22987	hgsc.bcm.edu;bcgsc.ca	37	5	75587051	75587051	+	Silent	SNP	C	C	T			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr5:75587051C>T	ENST00000502798.2	+	7	1585	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Silent_p.N381N	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	381					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TACAGGTAAACAAAATAAAAA	0.398																																					p.N381N		.											.	SV2C	97	0			c.C1143T						.						88.0	88.0	88.0					5																	75587051		2022	4226	6248	SO:0001819	synonymous_variant	22987	exon7			GGTAAACAAAATA	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1143C>T	5.37:g.75587051C>T		152.0	0.0		113.0	5.0	NM_014979	Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	CCDS43331.1																																																																																			.		0.398	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		
CPSF2	53981	hgsc.bcm.edu;bcgsc.ca	37	14	92621560	92621560	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr14:92621560T>C	ENST00000298875.4	+	11	1620	c.1335T>C	c.(1333-1335)ggT>ggC	p.G445G		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	445					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TGATGAAAGGTGAAGGCAGTC	0.408																																					p.G445G	Ovarian(78;28 1788 18702 44111)	.											.	CPSF2	63	0			c.T1335C						.						117.0	106.0	110.0					14																	92621560		2203	4300	6503	SO:0001819	synonymous_variant	53981	exon11			GAAAGGTGAAGGC	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1335T>C	14.37:g.92621560T>C		135.0	0.0		117.0	5.0	NM_017437	B3KME1|Q6NSJ1|Q9H3W7	Silent	SNP	ENST00000298875.4	37	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.633546	0.29068	.	.	ENSG00000165934	ENST00000555244	.	.	.	5.81	-9.09	0.00717	.	.	.	.	.	T	0.42630	0.1211	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47837	-0.9086	4	.	.	.	.	4.9248	0.13887	0.0862:0.2897:0.4208:0.2034	.	.	.	.	A	13	.	.	V	+	2	0	CPSF2	91691313	0.495000	0.26051	0.725000	0.30721	0.993000	0.82548	-0.336000	0.07863	-1.802000	0.01244	0.379000	0.24179	GTG	.		0.408	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1		
ZNF2	7549	hgsc.bcm.edu;bcgsc.ca	37	2	95843262	95843262	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr2:95843262T>C	ENST00000340539.5	+	3	530	c.68T>C	c.(67-69)tTc>tCc	p.F23S	ZNF2_ENST00000295210.6_Missense_Mutation_p.F23S|ZNF2_ENST00000425369.1_5'UTR|ZNF2_ENST00000453539.2_Missense_Mutation_p.F23S|ZNF2_ENST00000398107.2_5'UTR	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GCCGTGGTTTTCACAGATGAA	0.453																																					p.F23S		.											.	ZNF2	21	0			c.T68C						.						167.0	164.0	165.0					2																	95843262		1998	4193	6191	SO:0001583	missense	7549	exon3			TGGTTTTCACAGA	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.68T>C	2.37:g.95843262T>C	ENSP00000345392:p.Phe23Ser	153.0	0.0		80.0	5.0	NM_021088	A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345149	0.82022	.	.	ENSG00000163067	ENST00000340539;ENST00000295210;ENST00000453539	T;T;T	0.14766	2.48;2.48;2.48	5.07	5.07	0.68467	Krueppel-associated box (4);	0.000000	0.49916	D	0.000135	T	0.50888	0.1642	H	0.97077	3.935	0.37024	D	0.896359	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.71649	-0.4529	10	0.87932	D	0	-18.5907	12.8268	0.57725	0.0:0.0:0.0:1.0	.	23;23	B4DIR4;Q9BSG1	.;ZNF2_HUMAN	S	23	ENSP00000345392:F23S;ENSP00000295210:F23S;ENSP00000411051:F23S	ENSP00000295210:F23S	F	+	2	0	ZNF2	95206989	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	4.955000	0.63638	2.120000	0.65058	0.496000	0.49642	TTC	.		0.453	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088	
CXorf57	55086	hgsc.bcm.edu;bcgsc.ca	37	X	105876229	105876229	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chrX:105876229A>G	ENST00000372548.4	+	5	1265	c.1156A>G	c.(1156-1158)Agg>Ggg	p.R386G	CXorf57_ENST00000372544.2_Missense_Mutation_p.R386G	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	386							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTTGTAGGAAGGGTCCAGCG	0.294																																					p.R386G		.											.	CXorf57	107	0			c.A1156G						.						89.0	91.0	90.0					X																	105876229		2203	4298	6501	SO:0001583	missense	55086	exon5			GTAGGAAGGGTCC	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1156A>G	X.37:g.105876229A>G	ENSP00000361628:p.Arg386Gly	238.0	0.0		186.0	8.0	NM_018015	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826405	0.50739	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.66460	-0.21;-0.15;-0.04	4.53	4.53	0.55603	.	0.045750	0.85682	D	0.000000	T	0.78868	0.4351	M	0.66939	2.045	0.38835	D	0.955925	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.996	T	0.82151	-0.0599	10	0.66056	D	0.02	-16.1492	12.3285	0.55024	1.0:0.0:0.0:0.0	.	386;386;386	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	G	386;386;194	ENSP00000361623:R386G;ENSP00000361628:R386G;ENSP00000405866:R194G	ENSP00000361623:R386G	R	+	1	2	CXorf57	105762885	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.361000	0.59461	1.746000	0.51805	0.481000	0.45027	AGG	.		0.294	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
THUMPD3	25917	hgsc.bcm.edu;bcgsc.ca	37	3	9425958	9425958	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr3:9425958T>C	ENST00000345094.3	+	9	1632	c.1298T>C	c.(1297-1299)gTc>gCc	p.V433A	SETD5-AS1_ENST00000523354.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.V433A|SETD5-AS1_ENST00000519043.1_RNA|SETD5-AS1_ENST00000468186.1_RNA|SETD5-AS1_ENST00000520629.1_RNA|SETD5-AS1_ENST00000521609.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.V433A	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	433						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		ATGAGCCGTGTCTGCACACCT	0.458																																					p.V433A		.											.	THUMPD3	46	0			c.T1298C						.						195.0	201.0	199.0					3																	9425958		2203	4300	6503	SO:0001583	missense	25917	exon9			GCCGTGTCTGCAC	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1298T>C	3.37:g.9425958T>C	ENSP00000339532:p.Val433Ala	145.0	0.0		82.0	4.0	NM_001114092	Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506860	0.85282	.	.	ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662	T;T;T	0.34072	1.38;1.38;1.38	5.66	5.66	0.87406	Putative RNA methylase (1);	0.107605	0.64402	D	0.000007	T	0.64929	0.2643	M	0.86573	2.825	0.58432	D	0.999994	D	0.65815	0.995	D	0.68765	0.96	T	0.71718	-0.4508	10	0.72032	D	0.01	-8.377	15.5607	0.76244	0.0:0.0:0.0:1.0	.	433	Q9BV44	THUM3_HUMAN	A	433	ENSP00000395893:V433A;ENSP00000339532:V433A;ENSP00000424064:V433A	ENSP00000339532:V433A	V	+	2	0	THUMPD3	9400958	1.000000	0.71417	0.961000	0.40146	0.690000	0.40134	7.856000	0.86956	2.175000	0.68902	0.528000	0.53228	GTC	.		0.458	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453	
KIRREL2	84063	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	36350514	36350514	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr19:36350514T>C	ENST00000360202.5	+	5	852	c.654T>C	c.(652-654)gcT>gcC	p.A218A	KIRREL2_ENST00000592409.1_Silent_p.A218A|KIRREL2_ENST00000262625.7_Silent_p.A218A|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Silent_p.A168A	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	218	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGACACAGCTATCACACTGA	0.622																																					p.A218A		.											.	KIRREL2	170	0			c.T654C						.						53.0	52.0	53.0					19																	36350514		2203	4300	6503	SO:0001819	synonymous_variant	84063	exon5			CACAGCTATCACA	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.654T>C	19.37:g.36350514T>C		40.0	0.0		40.0	4.0	NM_199180	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	CCDS12481.1																																																																																			.		0.622	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	
ROS1	6098	hgsc.bcm.edu;bcgsc.ca	37	6	117718268	117718268	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr6:117718268C>T	ENST00000368508.3	-	7	787	c.589G>A	c.(589-591)Gca>Aca	p.A197T	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A206T	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	197	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCAAAGGTGCAGTTTCAGGA	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.A197T		.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	ROS1	728	0			c.G589A						.						77.0	77.0	77.0					6																	117718268		2203	4300	6503	SO:0001583	missense	6098	exon7			AAGGTGCAGTTTC	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.589G>A	6.37:g.117718268C>T	ENSP00000357494:p.Ala197Thr	158.0	0.0		96.0	4.0	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203963	0.79127	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.56776	0.44;0.44	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	T	0.68063	0.2960	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67260	-0.5715	10	0.51188	T	0.08	.	18.8227	0.92103	0.0:1.0:0.0:0.0	.	197	P08922	ROS1_HUMAN	T	197;206	ENSP00000357494:A197T;ENSP00000357493:A206T	ENSP00000357493:A206T	A	-	1	0	ROS1	117824961	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.223000	0.42936	2.762000	0.94881	0.650000	0.86243	GCA	.		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
CHAMP1	283489	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	115089644	115089644	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr13:115089644T>C	ENST00000361283.1	+	3	636	c.327T>C	c.(325-327)ccT>ccC	p.P109P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	109	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										TGAAAAGCCCTCCTCTTCCTG	0.398																																					p.P109P		.											.	.	.	0			c.T327C						.						81.0	84.0	83.0					13																	115089644		2203	4300	6503	SO:0001819	synonymous_variant	283489	exon3			AAGCCCTCCTCTT	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.327T>C	13.37:g.115089644T>C		268.0	0.0		158.0	24.0	NM_001164144	B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	CCDS9545.1																																																																																			.		0.398	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436	
FBN1	2200	hgsc.bcm.edu;bcgsc.ca	37	15	48752514	48752514	+	Splice_Site	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr15:48752514T>C	ENST00000316623.5	-	43	5680	c.5225A>G	c.(5224-5226)gAt>gGt	p.D1742G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1742	TB 7.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCAAACTCATCTGCAATGAT	0.403																																					p.D1742G		.											.	FBN1	310	0			c.A5225G						.						75.0	67.0	70.0					15																	48752514		2198	4296	6494	SO:0001630	splice_region_variant	2200	exon43			AACTCATCTGCAA	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5225-1A>G	15.37:g.48752514T>C		87.0	0.0		72.0	5.0	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.787891	0.31593	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.92858	-3.12	6.16	6.16	0.99307	Matrix fibril-associated (3);TGF-beta binding (1);	0.090906	0.85682	D	0.000000	D	0.93507	0.7928	L	0.46614	1.455	0.80722	D	1	D	0.63046	0.992	D	0.72338	0.977	D	0.91451	0.5181	10	0.23302	T	0.38	.	12.3343	0.55058	0.0:0.0:0.1408:0.8592	.	1742	P35555	FBN1_HUMAN	G	1742;310;632	ENSP00000325527:D1742G	ENSP00000325527:D1742G	D	-	2	0	FBN1	46539806	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.989000	0.56958	2.367000	0.80283	0.528000	0.53228	GAT	.		0.403	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Missense_Mutation
CNTRL	11064	hgsc.bcm.edu;bcgsc.ca	37	9	123874744	123874744	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr9:123874744A>G	ENST00000373855.1	+	9	1270	c.1010A>G	c.(1009-1011)cAg>cGg	p.Q337R	CNTRL_ENST00000373865.2_Missense_Mutation_p.Q337R|CNTRL_ENST00000238341.5_Missense_Mutation_p.Q337R			Q7Z7A1	CNTRL_HUMAN	centriolin	337					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TAGCTAAAACAGAAGACCATA	0.338																																					p.Q337R		.											.	CNTRL	161	0			c.A1010G						.						104.0	98.0	100.0					9																	123874744		2203	4300	6503	SO:0001583	missense	11064	exon7			TAAAACAGAAGAC	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1010A>G	9.37:g.123874744A>G	ENSP00000362962:p.Gln337Arg	133.0	0.0		76.0	4.0	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072744	0.36566	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.26223	1.75;1.75	5.78	4.65	0.58169	.	.	.	.	.	T	0.22360	0.0539	L	0.47716	1.5	0.34699	D	0.726492	B	0.10296	0.003	B	0.06405	0.002	T	0.15407	-1.0438	9	0.35671	T	0.21	.	9.2543	0.37573	0.918:0.0:0.082:0.0	.	337	Q7Z7A1	CNTRL_HUMAN	R	337	ENSP00000362962:Q337R;ENSP00000238341:Q337R	ENSP00000238341:Q337R	Q	+	2	0	CNTRL	122914565	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	4.452000	0.60054	1.028000	0.39785	0.460000	0.39030	CAG	.		0.338	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
HHIP	64399	hgsc.bcm.edu;bcgsc.ca	37	4	145636456	145636456	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr4:145636456T>C	ENST00000296575.3	+	10	2207	c.1552T>C	c.(1552-1554)Ttc>Ctc	p.F518L		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	518					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTGTAGGAATTTCCTAACTCT	0.373																																					p.F518L		.											.	HHIP	100	0			c.T1552C						.						91.0	87.0	88.0					4																	145636456		2203	4300	6503	SO:0001583	missense	64399	exon10			AGGAATTTCCTAA	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1552T>C	4.37:g.145636456T>C	ENSP00000296575:p.Phe518Leu	131.0	0.0		95.0	5.0	NM_022475	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	T	8.653	0.898663	0.17686	.	.	ENSG00000164161	ENST00000296575	T	0.04406	3.63	6.06	6.06	0.98353	Six-bladed beta-propeller, TolB-like (1);	0.049365	0.85682	D	0.000000	T	0.02418	0.0074	N	0.02854	-0.475	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.36866	-0.9730	10	0.02654	T	1	-22.1949	16.6127	0.84892	0.0:0.0:0.0:1.0	.	518	Q96QV1	HHIP_HUMAN	L	518	ENSP00000296575:F518L	ENSP00000296575:F518L	F	+	1	0	HHIP	145855906	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.305000	0.51873	2.322000	0.78497	0.528000	0.53228	TTC	.		0.373	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2		
GPATCH1	55094	hgsc.bcm.edu;bcgsc.ca	37	19	33579153	33579153	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr19:33579153A>G	ENST00000170564.2	+	2	501	c.187A>G	c.(187-189)Aat>Gat	p.N63D		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	63					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGGATACTTCAATACTGTTGG	0.388																																					p.N63D	Pancreas(67;88 1713 4567 18227)	.											.	GPATCH1	79	0			c.A187G						.						103.0	107.0	105.0					19																	33579153		2203	4300	6503	SO:0001583	missense	55094	exon2			TACTTCAATACTG	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.187A>G	19.37:g.33579153A>G	ENSP00000170564:p.Asn63Asp	200.0	0.0		100.0	4.0	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196296	0.78902	.	.	ENSG00000076650	ENST00000170564	T	0.44482	0.92	5.43	5.43	0.79202	Domain of unknown function DUF1604 (1);	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77653	-0.2507	10	0.72032	D	0.01	-30.4861	14.9395	0.70983	1.0:0.0:0.0:0.0	.	63	Q9BRR8	GPTC1_HUMAN	D	63	ENSP00000170564:N63D	ENSP00000170564:N63D	N	+	1	0	GPATCH1	38270993	1.000000	0.71417	0.997000	0.53966	0.548000	0.35241	8.595000	0.90840	2.190000	0.69967	0.533000	0.62120	AAT	.		0.388	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
TCAP	8557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	37822111	37822111	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr17:37822111T>C	ENST00000309889.2	+	2	1426	c.253T>C	c.(253-255)Tac>Cac	p.Y85H	PNMT_ENST00000394246.1_5'Flank|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|TCAP_ENST00000578283.1_Missense_Mutation_p.Y61H			O15273	TELT_HUMAN	titin-cap	85					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCAGCTGCCCTACCAGCGGGT	0.677																																					p.Y85H		.											.	TCAP	12	0			c.T253C						.						20.0	20.0	20.0					17																	37822111		2198	4292	6490	SO:0001583	missense	8557	exon2			CTGCCCTACCAGC	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.253T>C	17.37:g.37822111T>C	ENSP00000312624:p.Tyr85His	56.0	0.0		43.0	8.0	NM_003673	Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234409	0.39498	.	.	ENSG00000173991	ENST00000309889	D	0.88201	-2.35	5.71	5.71	0.89125	.	0.125315	0.53938	D	0.000047	D	0.90817	0.7116	L	0.29908	0.895	0.51482	D	0.999924	D	0.76494	0.999	D	0.72338	0.977	D	0.92096	0.5684	10	0.87932	D	0	-27.7638	14.9524	0.71086	0.0:0.0:0.0:1.0	.	85	O15273	TELT_HUMAN	H	85	ENSP00000312624:Y85H	ENSP00000312624:Y85H	Y	+	1	0	TCAP	35075637	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.142000	0.64820	2.176000	0.68965	0.379000	0.24179	TAC	.		0.677	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673	
ZNF320	162967	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	53384285	53384285	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr19:53384285G>A	ENST00000595635.1	-	8	1595	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.A365V|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ACTCCGGAAAGCCTTGTCACA	0.408																																					p.A365V		.											.	ZNF320	67	0			c.C1094T						.						129.0	122.0	124.0					19																	53384285		2203	4300	6503	SO:0001583	missense	162967	exon4			CGGAAAGCCTTGT	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1094C>T	19.37:g.53384285G>A	ENSP00000473091:p.Ala365Val	157.0	0.0		111.0	5.0	NM_207333	Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	0.659	-0.806637	0.02819	.	.	ENSG00000182986	ENST00000391781	T	0.13778	2.56	1.74	-0.844	0.10741	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11750	0.0286	L	0.35249	1.045	0.19300	N	0.99997	P	0.50617	0.937	P	0.49276	0.605	T	0.18840	-1.0324	9	0.33141	T	0.24	.	3.7473	0.08552	0.2968:0.2043:0.4988:0.0	.	365	A2RRD8	ZN320_HUMAN	V	365	ENSP00000375660:A365V	ENSP00000375660:A365V	A	-	2	0	ZNF320	58076097	0.000000	0.05858	0.008000	0.14137	0.208000	0.24298	-2.623000	0.00876	-0.339000	0.08401	0.184000	0.17185	GCT	.		0.408	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333	
CNKSR2	22866	hgsc.bcm.edu;bcgsc.ca	37	X	21458842	21458842	+	Silent	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chrX:21458842A>G	ENST00000379510.3	+	4	498	c.462A>G	c.(460-462)tcA>tcG	p.S154S	CNKSR2_ENST00000279451.4_Silent_p.S154S|CNKSR2_ENST00000425654.2_Silent_p.S154S|CNKSR2_ENST00000543067.1_Silent_p.S154S	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	154	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGACTATTCAGTTACAAGAA	0.348																																					p.S154S		.											.	CNKSR2	158	0			c.A462G						.						91.0	77.0	82.0					X																	21458842		2203	4299	6502	SO:0001819	synonymous_variant	22866	exon4			CTATTCAGTTACA	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.462A>G	X.37:g.21458842A>G		60.0	0.0		55.0	4.0	NM_001168647	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	CCDS14198.1																																																																																			.		0.348	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
ZNF471	57573	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	57027722	57027722	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr19:57027722T>G	ENST00000308031.5	+	3	245	c.112T>G	c.(112-114)Tta>Gta	p.L38V	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.L38V	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCAGAAGCGTTTATACAGGAG	0.403																																					p.L38V	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	.											.	ZNF471	99	0			c.T112G						.						166.0	152.0	157.0					19																	57027722		2203	4300	6503	SO:0001583	missense	57573	exon3			AAGCGTTTATACA	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.112T>G	19.37:g.57027722T>G	ENSP00000309161:p.Leu38Val	255.0	0.0		163.0	16.0	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480783	0.26598	.	.	ENSG00000196263	ENST00000308031	T	0.05081	3.5	3.77	-1.3	0.09259	Krueppel-associated box (4);	.	.	.	.	T	0.28333	0.0700	H	0.94542	3.55	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.03993	-1.0986	9	0.72032	D	0.01	.	5.9946	0.19487	0.0:0.5124:0.1813:0.3063	.	38	Q9BX82	ZN471_HUMAN	V	38	ENSP00000309161:L38V	ENSP00000309161:L38V	L	+	1	2	ZNF471	61719534	0.000000	0.05858	0.009000	0.14445	0.308000	0.27856	-0.447000	0.06828	-0.179000	0.10654	0.528000	0.53228	TTA	.		0.403	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
TXNL4B	54957	hgsc.bcm.edu;bcgsc.ca	37	16	72120695	72120695	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr16:72120695T>C	ENST00000268483.3	-	4	612	c.291A>G	c.(289-291)ccA>ccG	p.P97P	RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000426362.2_Silent_p.P97P|TXNL4B_ENST00000423037.1_Silent_p.P97P	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	97					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						TAGTGTGATCTGGAGATCTAG	0.373																																					p.P97P		.											.	TXNL4B	17	0			c.A291G						.						69.0	66.0	67.0					16																	72120695		2198	4300	6498	SO:0001819	synonymous_variant	54957	exon4			GTGATCTGGAGAT	BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.291A>G	16.37:g.72120695T>C		157.0	0.0		109.0	5.0	NM_001142318	D3DWS6	Silent	SNP	ENST00000268483.3	37	CCDS10906.1																																																																																			.		0.373	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269007.2	NM_017853	
ABHD1	84696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	27351823	27351823	+	Missense_Mutation	SNP	C	C	A	rs370556895		TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr2:27351823C>A	ENST00000316470.4	+	3	400	c.286C>A	c.(286-288)Caa>Aaa	p.Q96K		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	96						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACATCCTCCAAACACCAGA	0.517																																					p.Q96K		.											.	ABHD1	18	0			c.C286A						.						85.0	84.0	84.0					2																	27351823		2203	4300	6503	SO:0001583	missense	84696	exon3			ATCCTCCAAACAC	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.286C>A	2.37:g.27351823C>A	ENSP00000326491:p.Gln96Lys	103.0	0.0		71.0	8.0	NM_032604	B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	C	0.681	-0.798159	0.02862	.	.	ENSG00000143994	ENST00000316470;ENST00000416071	T;T	0.41758	3.11;0.99	4.82	3.93	0.45458	.	0.644473	0.15463	N	0.261009	T	0.30510	0.0767	L	0.38175	1.15	0.28692	N	0.904561	B	0.09022	0.002	B	0.09377	0.004	T	0.19549	-1.0302	10	0.12766	T	0.61	8.6033	11.0174	0.47698	0.0:0.7959:0.2041:0.0	.	96	Q96SE0	ABHD1_HUMAN	K	96;33	ENSP00000326491:Q96K;ENSP00000397522:Q33K	ENSP00000326491:Q96K	Q	+	1	0	ABHD1	27205327	0.019000	0.18553	0.972000	0.41901	0.497000	0.33675	0.433000	0.21477	1.221000	0.43506	0.561000	0.74099	CAA	.		0.517	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604	
IMPACT	55364	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	22029801	22029801	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr18:22029801G>A	ENST00000284202.4	+	10	919	c.778G>A	c.(778-780)Gtc>Atc	p.V260I		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	260					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TGTGAAGAATGTCATGGTGGT	0.348																																					p.V260I		.											.	IMPACT	37	0			c.G778A						.						101.0	91.0	94.0					18																	22029801		2203	4300	6503	SO:0001583	missense	55364	exon10			AAGAATGTCATGG	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.778G>A	18.37:g.22029801G>A	ENSP00000284202:p.Val260Ile	123.0	0.0		93.0	11.0	NM_018439	A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.301790	0.60195	.	.	ENSG00000154059	ENST00000284202	T	0.46063	0.88	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);Uncharacterised protein family UPF0029, Impact, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	M	0.62016	1.91	0.80722	D	1	P	0.44877	0.845	P	0.48654	0.585	T	0.53690	-0.8403	10	0.62326	D	0.03	.	19.1136	0.93328	0.0:0.0:1.0:0.0	.	260	Q9P2X3	IMPCT_HUMAN	I	260	ENSP00000284202:V260I	ENSP00000284202:V260I	V	+	1	0	IMPACT	20283799	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.250000	0.95477	2.810000	0.96702	0.655000	0.94253	GTC	.		0.348	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439	
MMS22L	253714	hgsc.bcm.edu;bcgsc.ca	37	6	97627437	97627437	+	Splice_Site	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr6:97627437T>C	ENST00000275053.4	-	17	2650		c.e17-2		MMS22L_ENST00000369251.2_Splice_Site	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein						double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CATAATGTGCTGTAGAAACAA	0.318																																					.		.											.	MMS22L	102	0			c.2385-2A>G						.						44.0	43.0	43.0					6																	97627437		2203	4299	6502	SO:0001630	splice_region_variant	253714	exon18			ATGTGCTGTAGAA		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2385-2A>G	6.37:g.97627437T>C		61.0	0.0		55.0	4.0	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Splice_Site	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094512	0.76870	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9664	0.71198	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMS22L	97734158	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	4.896000	0.63222	2.272000	0.75746	0.524000	0.50904	.	.		0.318	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	Intron
METTL12	751071	hgsc.bcm.edu;bcgsc.ca	37	11	62434058	62434058	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr11:62434058T>C	ENST00000532971.1	+	3	515	c.258T>C	c.(256-258)acT>acC	p.T86T	C11orf48_ENST00000354588.3_Intron|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000524958.1_5'Flank|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000525675.1_5'Flank|METTL12_ENST00000398922.2_3'UTR	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	86						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GCTGTGGGACTTCCAGCCTAT	0.582																																					p.T86T		.											.	METTL12	11	0			c.T258C						.						57.0	65.0	62.0					11																	62434058		2002	4160	6162	SO:0001819	synonymous_variant	751071	exon3			TGGGACTTCCAGC	BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.258T>C	11.37:g.62434058T>C		87.0	0.0		77.0	5.0	NM_001043229	B7Z4C1	Silent	SNP	ENST00000532971.1	37	CCDS41657.1																																																																																			.		0.582	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1	NM_001043229	
LRRCC1	85444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	86022370	86022370	+	Silent	SNP	C	C	T			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr8:86022370C>T	ENST00000360375.3	+	3	480	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	LRRCC1_ENST00000414626.2_Silent_p.L91L	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	111					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACTAATTAATCTGACTAGACT	0.249																																					p.L111L		.											.	LRRCC1	212	0			c.C331T						.						95.0	86.0	89.0					8																	86022370		1808	4064	5872	SO:0001819	synonymous_variant	85444	exon3			ATTAATCTGACTA	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.331C>T	8.37:g.86022370C>T		123.0	0.0		107.0	22.0	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	CCDS43750.1																																																																																			.		0.249	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	
CUBN	8029	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	17024537	17024537	+	Silent	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr10:17024537A>G	ENST00000377833.4	-	31	4706	c.4641T>C	c.(4639-4641)cgT>cgC	p.R1547R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1547	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAAGAGAACACGATGATTTC	0.433																																					p.R1547R		.											.	CUBN	515	0			c.T4641C						.						131.0	107.0	115.0					10																	17024537		2203	4300	6503	SO:0001819	synonymous_variant	8029	exon31			GAGAACACGATGA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4641T>C	10.37:g.17024537A>G		87.0	0.0		58.0	7.0	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																			.		0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
NUP98	4928	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	3720345	3720345	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr11:3720345T>C	ENST00000324932.7	-	25	4396	c.3976A>G	c.(3976-3978)Atc>Gtc	p.I1326V	NUP98_ENST00000355260.3_Missense_Mutation_p.I1326V|NUP98_ENST00000359171.4_Missense_Mutation_p.I1326V|NUP98_ENST00000488828.1_5'Flank	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1343					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GCCTCACTGATCCTTTTGCCT	0.552			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																p.I1326V		.		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	NUP98	149	0			c.A3976G						.						168.0	164.0	165.0					11																	3720345		2201	4298	6499	SO:0001583	missense	4928	exon25			CACTGATCCTTTT	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3976A>G	11.37:g.3720345T>C	ENSP00000316032:p.Ile1326Val	139.0	0.0		94.0	8.0	NM_016320	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.46|19.46	3.832340|3.832340	0.71258|0.71258	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932;ENST00000359171;ENST00000355260	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62925|0.62925	0.2468|0.2468	L|L	0.28776|0.28776	0.89|0.89	0.43364|0.43364	D|D	0.995441|0.995441	.|D;P;D	.|0.69078	.|0.997;0.596;0.991	.|D;P;D	.|0.77557	.|0.99;0.495;0.978	T|T	0.56637|0.56637	-0.7946|-0.7946	5|9	.|0.12430	.|T	.|0.62	-15.952|-15.952	15.3831|15.3831	0.74676|0.74676	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1326;1326;1240	.|P52948-2;P52948-5;P52948-6	.|.;.;.	G|V	278|1326	.|.	.|ENSP00000316032:I1326V	D|I	-|-	2|1	0|0	NUP98|NUP98	3676921|3676921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.201000|7.201000	0.77847|0.77847	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	GAT|ATC	.		0.552	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
ARF4	378	hgsc.bcm.edu;bcgsc.ca	37	3	57563094	57563094	+	Silent	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr3:57563094A>G	ENST00000303436.6	-	4	546	c.279T>C	c.(277-279)gaT>gaC	p.D93D	ARF4_ENST00000496292.1_Silent_p.D66D|ARF4_ENST00000489843.1_5'UTR	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	93					activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GATCGTTGCTATCTACCACAA	0.353																																					p.D93D		.											.	ARF4	14	0			c.T279C						.						114.0	129.0	124.0					3																	57563094		2203	4300	6503	SO:0001819	synonymous_variant	378	exon4			GTTGCTATCTACC	M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"""ADP-ribosylation factors"""	655	protein-coding gene	gene with protein product		601177	"""ADP-ribosylation factor 2"""	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.279T>C	3.37:g.57563094A>G		175.0	0.0		90.0	4.0	NM_001660	B2R7J7|P21371	Silent	SNP	ENST00000303436.6	37	CCDS2884.1																																																																																			.		0.353	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351443.1	NM_001660	
TUBA1B	10376	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	49522077	49522077	+	Silent	SNP	G	G	A			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr12:49522077G>A	ENST00000336023.5	-	4	1114	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	340				S -> T (in Ref. 1; AAA91576). {ECO:0000305}.	'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CAAACTGGATGCTGCGCTTGG	0.547																																					p.S340S		.											.	TUBA1B	24	0			c.C1020T						.						92.0	80.0	84.0					12																	49522077		2203	4300	6503	SO:0001819	synonymous_variant	10376	exon4			CTGGATGCTGCGC	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.1020C>T	12.37:g.49522077G>A		282.0	0.0		182.0	32.0	NM_006082	P04687|P05209|Q27I68|Q8WU19	Silent	SNP	ENST00000336023.5	37	CCDS31792.1																																																																																			.		0.547	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082	
FARP1	10160	hgsc.bcm.edu;bcgsc.ca	37	13	99063059	99063059	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr13:99063059T>C	ENST00000319562.6	+	15	1939	c.1674T>C	c.(1672-1674)gaT>gaC	p.D558D	FARP1_ENST00000376586.2_Silent_p.D558D|FARP1_ENST00000595437.1_Silent_p.D558D	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	558	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATCTGAAGGATCTCGAAGTTA	0.433																																					p.D558D		.											.	FARP1	207	0			c.T1674C						.						131.0	115.0	120.0					13																	99063059		2202	4299	6501	SO:0001819	synonymous_variant	10160	exon15			GAAGGATCTCGAA	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1674T>C	13.37:g.99063059T>C		224.0	0.0		148.0	6.0	NM_005766	Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	T	6.218	0.408279	0.11754	.	.	ENSG00000152767	ENST00000457029	.	.	.	5.66	-1.08	0.09936	.	.	.	.	.	T	0.65059	0.2655	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61456	-0.7059	4	.	.	.	.	13.382	0.60773	0.0:0.6488:0.0:0.3512	.	.	.	.	T	87	.	.	I	+	2	0	FARP1	97861060	0.988000	0.35896	0.905000	0.35620	0.598000	0.36846	0.253000	0.18296	-0.402000	0.07633	0.460000	0.39030	ATC	.		0.433	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
DGKA	1606	hgsc.bcm.edu;bcgsc.ca	37	12	56345833	56345833	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr12:56345833T>C	ENST00000331886.5	+	19	2056	c.1602T>C	c.(1600-1602)gcT>gcC	p.A534A	DGKA_ENST00000394147.1_Silent_p.A534A|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.A534A	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	534					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCTCTATTGCTCATCGATTCC	0.547																																					p.A534A		.											.	DGKA	70	0			c.T1602C						.						106.0	96.0	100.0					12																	56345833		2203	4300	6503	SO:0001819	synonymous_variant	1606	exon19			TATTGCTCATCGA	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1602T>C	12.37:g.56345833T>C		121.0	0.0		73.0	5.0	NM_201554	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	CCDS8896.1																																																																																			.		0.547	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		
IDH2	3418	hgsc.bcm.edu;bcgsc.ca	37	15	90628063	90628063	+	Missense_Mutation	SNP	A	A	G	rs554169929		TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr15:90628063A>G	ENST00000330062.3	-	10	1369	c.1256T>C	c.(1255-1257)aTt>aCt	p.I419T	RP11-617F23.1_ENST00000558334.1_RNA|IDH2_ENST00000539790.1_Missense_Mutation_p.I289T|IDH2_ENST00000540499.2_Missense_Mutation_p.I367T|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	419					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GAGGCCGTGAATGCAGCCCGC	0.627			M		GBM								A|||	1	0.000199681	0.0008	0.0	5008	,	,		19294	0.0		0.0	False		,,,				2504	0.0				p.I419T		.		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	.	IDH2	1372	0			c.T1256C						.						105.0	107.0	106.0					15																	90628063		2200	4298	6498	SO:0001583	missense	3418	exon10			CCGTGAATGCAGC		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.1256T>C	15.37:g.90628063A>G	ENSP00000331897:p.Ile419Thr	87.0	0.0		69.0	4.0	NM_002168	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664260	0.47572	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.77098	-1.07;-1.07;-1.07	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.82761	0.5107	M	0.62209	1.925	0.80722	D	1	D	0.52996	0.957	P	0.54889	0.763	D	0.84890	0.0836	10	0.87932	D	0	.	13.6826	0.62496	1.0:0.0:0.0:0.0	.	419	P48735	IDHP_HUMAN	T	419;289;367	ENSP00000331897:I419T;ENSP00000438457:I289T;ENSP00000446147:I367T	ENSP00000331897:I419T	I	-	2	0	IDH2	88429067	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	7.469000	0.80959	2.117000	0.64856	0.459000	0.35465	ATT	.		0.627	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1		
ZC3H18	124245	hgsc.bcm.edu;bcgsc.ca	37	16	88666240	88666240	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr16:88666240T>C	ENST00000301011.5	+	6	1172	c.972T>C	c.(970-972)gaT>gaC	p.D324D	ZC3H18_ENST00000452588.2_Silent_p.D348D	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	324						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGGAGCCTGATTTTGAAGAGA	0.413																																					p.D324D	Ovarian(121;375 2276 20373 38669)	.											.	ZC3H18	90	0			c.T972C						.						141.0	162.0	155.0					16																	88666240		2198	4300	6498	SO:0001819	synonymous_variant	124245	exon6			GCCTGATTTTGAA	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.972T>C	16.37:g.88666240T>C		106.0	0.0		64.0	4.0	NM_144604	Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	CCDS10967.1																																																																																			.		0.413	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
PCDH19	57526	hgsc.bcm.edu;bcgsc.ca	37	X	99657571	99657571	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chrX:99657571T>C	ENST00000373034.4	-	3	4242	c.2567A>G	c.(2566-2568)cAg>cGg	p.Q856R	PCDH19_ENST00000420881.2_Missense_Mutation_p.Q809R|PCDH19_ENST00000255531.7_Missense_Mutation_p.Q809R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	856					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGGGGCCCCTGGCTGTTGAA	0.557																																					p.Q856R		.											.	PCDH19	269	0			c.A2567G						.						101.0	94.0	96.0					X																	99657571		2022	4170	6192	SO:0001583	missense	57526	exon3			GGCCCCTGGCTGT	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2567A>G	X.37:g.99657571T>C	ENSP00000362125:p.Gln856Arg	139.0	0.0		69.0	4.0	NM_001184880	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	t	16.77	3.215336	0.58452	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53640	0.61;0.64;0.61	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	L	0.43152	1.355	0.58432	D	0.999999	P;P;B	0.42827	0.791;0.572;0.437	B;B;B	0.38755	0.212;0.281;0.146	T	0.20306	-1.0279	10	0.22706	T	0.39	.	14.8534	0.70316	0.0:0.0:0.0:1.0	.	856;809;809	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	R	809;856;809	ENSP00000400327:Q809R;ENSP00000362125:Q856R;ENSP00000255531:Q809R	ENSP00000255531:Q809R	Q	-	2	0	PCDH19	99544227	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.448000	0.80631	1.889000	0.54706	0.481000	0.45027	CAG	.		0.557	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
COA5	493753	hgsc.bcm.edu;bcgsc.ca	37	2	99217252	99217252	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr2:99217252T>C	ENST00000328709.3	-	3	274	c.188A>G	c.(187-189)gAt>gGt	p.D63G	COA5_ENST00000483527.1_5'UTR	NM_001008215.2	NP_001008216.1	Q86WW8	COA5_HUMAN	cytochrome c oxidase assembly factor 5	63						mitochondrion (GO:0005739)											TGCCCTGTTATCCAACTGAAA	0.318																																					p.D63G		.											.	.	.	0			c.A188G						.						89.0	79.0	82.0					2																	99217252		2200	4297	6497	SO:0001583	missense	493753	exon3			CTGTTATCCAACT		CCDS33257.1	2q11.2	2012-10-15	2012-10-15	2011-07-19	ENSG00000183513	ENSG00000183513		"""Mitochondrial respiratory chain complex assembly factors"""	33848	protein-coding gene	gene with protein product		613920	"""chromosome 2 open reading frame 64"""	C2orf64		21457908	Standard	NM_001008215		Approved	MGC52110, FLJ27524, Pet191	uc002syz.3	Q86WW8	OTTHUMG00000153101	ENST00000328709.3:c.188A>G	2.37:g.99217252T>C	ENSP00000330730:p.Asp63Gly	120.0	0.0		81.0	4.0	NM_001008215		Missense_Mutation	SNP	ENST00000328709.3	37	CCDS33257.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868991	0.72065	.	.	ENSG00000183513	ENST00000328709	D	0.82803	-1.65	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.87124	0.6099	.	.	.	0.80722	D	1	P	0.43938	0.822	P	0.51055	0.657	D	0.88748	0.3248	9	0.87932	D	0	-15.5939	14.3354	0.66586	0.0:0.0:0.0:1.0	.	63	Q86WW8	COA5_HUMAN	G	63	ENSP00000330730:D63G	ENSP00000330730:D63G	D	-	2	0	COA5	98583684	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	5.629000	0.67798	2.173000	0.68751	0.533000	0.62120	GAT	.		0.318	COA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329529.2	NM_001008215	
SSPO	23145	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	149500388	149500388	+	RNA	SNP	C	C	T			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr7:149500388C>T	ENST00000378016.2	+	0	7914							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCACCCTCCTGCCTGGATC	0.652																																					p.S2638S		.											.	.	.	0			c.C7914T						.						40.0	51.0	47.0					7																	149500388		2110	4235	6345			23145	exon53			ACCCTCCTGCCTG	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500388C>T		48.0	0.0		39.0	5.0	NM_198455	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																				.		0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
POU5F2	134187	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	93076777	93076777	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr5:93076777A>C	ENST00000510627.4	-	1	566	c.493T>G	c.(493-495)Tgc>Ggc	p.C165G	FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'UTR|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	165	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TCGAAGCGGCAGATGGTCGTC	0.582																																					p.C165G		.											.	POU5F2	10	0			c.T493G						.						88.0	92.0	91.0					5																	93076777		2169	4284	6453	SO:0001583	missense	134187	exon1			AGCGGCAGATGGT		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.493T>G	5.37:g.93076777A>C	ENSP00000464890:p.Cys165Gly	71.0	0.0		45.0	7.0	NM_153216	Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	CCDS59489.1																																																																																			.		0.582	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216	
SLC6A1	6529	hgsc.bcm.edu;bcgsc.ca	37	3	11072874	11072874	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr3:11072874T>C	ENST00000287766.4	+	13	1756	c.1335T>C	c.(1333-1335)taT>taC	p.Y445Y	SLC6A1_ENST00000536032.1_Silent_p.Y267Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	445					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GGGGTATTTATGTCTTCAAAC	0.493																																					p.Y445Y		.											.	SLC6A1	88	0			c.T1335C						.						272.0	252.0	259.0					3																	11072874		2203	4300	6503	SO:0001819	synonymous_variant	6529	exon13			TATTTATGTCTTC		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1335T>C	3.37:g.11072874T>C		144.0	0.0		92.0	5.0	NM_003042	Q8N4K8	Silent	SNP	ENST00000287766.4	37	CCDS2603.1																																																																																			.		0.493	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	
CEP63	80254	hgsc.bcm.edu;bcgsc.ca	37	3	134270832	134270832	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr3:134270832A>G	ENST00000337090.3	+	12	1618	c.1445A>G	c.(1444-1446)aAa>aGa	p.K482R	CEP63_ENST00000332047.5_Missense_Mutation_p.K436R|CEP63_ENST00000513612.2_Missense_Mutation_p.K482R|CEP63_ENST00000606977.1_Missense_Mutation_p.K482R|CEP63_ENST00000354446.3_Missense_Mutation_p.K436R|CEP63_ENST00000383229.3_Missense_Mutation_p.K482R			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	482					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGGTGATGAAATTGGAATTG	0.289																																					p.K482R		.											.	CEP63	56	0			c.A1445G						.						77.0	88.0	84.0					3																	134270832		2203	4295	6498	SO:0001583	missense	80254	exon13			TGATGAAATTGGA	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1445A>G	3.37:g.134270832A>G	ENSP00000336524:p.Lys482Arg	90.0	0.0		56.0	4.0	NM_025180	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.10|12.10	1.836635|1.836635	0.32421|0.32421	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000337090;ENST00000383229;ENST00000513612;ENST00000514678|ENST00000504929	T;T;T;T;T;T|.	0.33438|.	1.48;1.89;2.22;1.49;2.22;1.41|.	4.94|4.94	3.74|3.74	0.42951|0.42951	.|.	0.247017|.	0.38778|.	N|.	0.001575|.	T|T	0.47002|0.47002	0.1422|0.1422	L|L	0.45581|0.45581	1.43|1.43	0.29859|0.29859	N|N	0.827813|0.827813	D;B;B;P|.	0.65815|.	0.995;0.114;0.136;0.844|.	P;B;B;P|.	0.61477|.	0.889;0.084;0.05;0.503|.	T|T	0.44221|0.44221	-0.9342|-0.9342	10|5	0.30854|.	T|.	0.27|.	-18.0577|-18.0577	10.7337|10.7337	0.46111|0.46111	0.8403:0.1597:0.0:0.0|0.8403:0.1597:0.0:0.0	.|.	482;482;436;436|.	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3|.	CEP63_HUMAN;.;.;.|.	R|D	436;436;482;482;482;155|171	ENSP00000328382:K436R;ENSP00000346432:K436R;ENSP00000336524:K482R;ENSP00000372716:K482R;ENSP00000426129:K482R;ENSP00000427526:K155R|.	ENSP00000328382:K436R|.	K|N	+|+	2|1	0|0	CEP63|CEP63	135753522|135753522	0.997000|0.997000	0.39634|0.39634	0.821000|0.821000	0.32701|0.32701	0.749000|0.749000	0.42624|0.42624	4.001000|4.001000	0.57046|0.57046	0.976000|0.976000	0.38417|0.38417	0.477000|0.477000	0.44152|0.44152	AAA|AAT	.		0.289	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180	
C1orf131	128061	hgsc.bcm.edu;bcgsc.ca	37	1	231360124	231360124	+	Silent	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr1:231360124T>C	ENST00000366649.2	-	7	808	c.783A>G	c.(781-783)tcA>tcG	p.S261S	C1orf131_ENST00000366651.3_Silent_p.S260S|C1orf131_ENST00000318906.2_3'UTR			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	262							poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCCGTCCATTTGACAAAATAC	0.373																																					p.S261S		.											.	C1orf131	30	0			c.A783G						.						78.0	77.0	77.0					1																	231360124		2203	4300	6503	SO:0001819	synonymous_variant	128061	exon7			TCCATTTGACAAA	BC062353	CCDS1591.2, CCDS73049.1	1q42.2	2012-06-27			ENSG00000143633	ENSG00000143633			25332	protein-coding gene	gene with protein product						12975309	Standard	XM_005273051		Approved	DKFZp547B1713	uc001hul.3	Q8NDD1	OTTHUMG00000038023	ENST00000366649.2:c.783A>G	1.37:g.231360124T>C		220.0	0.0		165.0	9.0	NM_152379	Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6	Silent	SNP	ENST00000366649.2	37	CCDS1591.2																																																																																			.		0.373	C1orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092864.1	NM_152379	
SPATA6L	55064	hgsc.bcm.edu;bcgsc.ca	37	9	4604223	4604223	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr9:4604223T>C	ENST00000454239.2	-	12	1381	c.1136A>G	c.(1135-1137)tAc>tGc	p.Y379C	SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Missense_Mutation_p.Y256C|SPATA6L_ENST00000475086.1_Missense_Mutation_p.Y321C			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	379																	CTTCAGAGGGTAGCTTGGTCT	0.338																																					p.Y321C		.											.	SPATA6L	3	0			c.A962G						.						145.0	136.0	139.0					9																	4604223		1813	4084	5897	SO:0001583	missense	55064	exon10			AGAGGGTAGCTTG	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.1136A>G	9.37:g.4604223T>C	ENSP00000404277:p.Tyr379Cys	155.0	0.0		111.0	6.0	NM_001039395	B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	ENST00000454239.2	37		.	.	.	.	.	.	.	.	.	.	T	0.739	-0.777003	0.02929	.	.	ENSG00000106686	ENST00000454239;ENST00000475086;ENST00000381895	T;T;T	0.25579	1.87;1.85;1.79	4.99	-7.07	0.01563	.	.	.	.	.	T	0.14141	0.0342	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.0;0.0;0.003	T	0.31971	-0.9924	9	0.41790	T	0.15	-7.8174	6.9088	0.24323	0.0:0.388:0.227:0.3851	.	321;256;379	B4DIY4;E7ENB5;Q8N4H0	.;.;CI068_HUMAN	C	379;321;256	ENSP00000404277:Y379C;ENSP00000417063:Y321C;ENSP00000371319:Y256C	ENSP00000371319:Y256C	Y	-	2	0	C9orf68	4594223	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.240000	0.08952	-1.072000	0.03141	-2.352000	0.00242	TAC	.		0.338	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985	
STXBP4	252983	hgsc.bcm.edu;bcgsc.ca	37	17	53155463	53155463	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr17:53155463A>G	ENST00000376352.2	+	14	1420	c.1213A>G	c.(1213-1215)Aga>Gga	p.R405G	STXBP4_ENST00000434978.2_Missense_Mutation_p.R383G	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	405					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTTAAAAAAGAGAATCATGGT	0.348																																					p.R405G		.											.	STXBP4	41	0			c.A1213G						.						82.0	84.0	83.0					17																	53155463		2203	4300	6503	SO:0001583	missense	252983	exon14			AAAAAGAGAATCA	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1213A>G	17.37:g.53155463A>G	ENSP00000365530:p.Arg405Gly	154.0	0.0		121.0	5.0	NM_178509	Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166225	0.78339	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.54866	0.55;0.55	5.33	4.24	0.50183	.	0.042741	0.85682	D	0.000000	T	0.72095	0.3418	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.962	T	0.75263	-0.3379	10	0.87932	D	0	-18.8204	12.0609	0.53562	0.8559:0.1441:0.0:0.0	.	383;405	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	G	405;383	ENSP00000365530:R405G;ENSP00000391087:R383G	ENSP00000365530:R405G	R	+	1	2	STXBP4	50510462	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	6.265000	0.72534	0.948000	0.37687	0.533000	0.62120	AGA	.		0.348	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509	
PHACTR3	116154	hgsc.bcm.edu;broad.mit.edu	37	20	58342290	58342290	+	Silent	SNP	C	C	A			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr20:58342290C>A	ENST00000371015.1	+	5	1058	c.591C>A	c.(589-591)ctC>ctA	p.L197L	PHACTR3_ENST00000355648.4_Silent_p.L156L|PHACTR3_ENST00000541461.1_Silent_p.L156L|PHACTR3_ENST00000395636.2_Silent_p.L156L|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000359926.3_Silent_p.L194L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	197						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTGGCAGCCTCCTGCCCACCA	0.577																																					p.L197L		.											.	PHACTR3	104	0			c.C591A						.						53.0	49.0	51.0					20																	58342290		2203	4300	6503	SO:0001819	synonymous_variant	116154	exon5			CAGCCTCCTGCCC	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.591C>A	20.37:g.58342290C>A		145.0	0.0		103.0	7.0	NM_080672	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	CCDS13480.1																																																																																			.		0.577	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
ATP5B	506	ucsc.edu;bcgsc.ca	37	12	57038965	57038965	+	Silent	SNP	G	G	A			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr12:57038965G>A	ENST00000262030.3	-	2	350	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ATP5B_ENST00000552919.1_Silent_p.A100A|SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000550162.1_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	100					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCAAATGCTGGGCCACCTCCA	0.473																																					p.A100A		.											.	ATP5B	91	0			c.C300T						.						86.0	90.0	89.0					12																	57038965		2203	4300	6503	SO:0001819	synonymous_variant	506	exon2			ATGCTGGGCCACC	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.300C>T	12.37:g.57038965G>A		93.0	1.0		69.0	0.0	NM_001686	A8K4X0|Q14283	Silent	SNP	ENST00000262030.3	37	CCDS8924.1																																																																																			.		0.473	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686	
EIF4G2	1982	broad.mit.edu;ucsc.edu	37	11	10825934	10825934	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr11:10825934T>C	ENST00000526148.1	-	6	893	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.Y128C|EIF4G2_ENST00000525995.1_5'Flank|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.Y128C|EIF4G2_ENST00000396525.2_Missense_Mutation_p.Y128C	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAGTGAGCTATACTTTGGCTC	0.433																																					p.Y128C		.											.	EIF4G2	91	0			c.A383G						.						110.0	103.0	106.0					11																	10825934		2201	4294	6495	SO:0001583	missense	1982	exon6			GAGCTATACTTTG	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.383A>G	11.37:g.10825934T>C	ENSP00000433664:p.Tyr128Cys	183.0	0.0		180.0	0.0	NM_001042559		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.473182	0.84640	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082;ENST00000524932;ENST00000527419;ENST00000532570	T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.67	5.67	0.87782	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	M	0.83384	2.64	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64571	-0.6376	9	0.87932	D	0	-6.0227	16.2076	0.82138	0.0:0.0:0.0:1.0	.	128;201	P78344;B4DZF2	IF4G2_HUMAN;.	C	128;128;128;128;201;128;128;128;59;128	ENSP00000433664:Y128C;ENSP00000433371:Y128C;ENSP00000340281:Y128C;ENSP00000379778:Y128C;ENSP00000431583:Y128C;ENSP00000433121:Y128C;ENSP00000435523:Y128C;ENSP00000434940:Y59C;ENSP00000431511:Y128C	ENSP00000340281:Y128C	Y	-	2	0	EIF4G2	10782510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.285000	0.76669	0.477000	0.44152	TAT	.		0.433	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418	
F8	2157	ucsc.edu;bcgsc.ca	37	X	154124423	154124423	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chrX:154124423A>G	ENST00000360256.4	-	22	6558	c.6358T>C	c.(6358-6360)Ttt>Ctt	p.F2120L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2120	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.		F -> C (in HEMA). {ECO:0000269|PubMed:10404764}.|F -> L (in HEMA; mild).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATGATGATAAACTGAGAGATG	0.418																																					p.F2120L		.											.	F8	182	0			c.T6358C						.						163.0	157.0	159.0					X																	154124423		2203	4300	6503	SO:0001583	missense	2157	exon22			TGATAAACTGAGA	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6358T>C	X.37:g.154124423A>G	ENSP00000353393:p.Phe2120Leu	63.0	1.0		85.0	0.0	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	a	32	5.108669	0.94292	.	.	ENSG00000185010	ENST00000360256	D	0.99023	-5.34	5.65	5.65	0.86999	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.048363	0.85682	D	0.000000	D	0.99233	0.9733	M	0.84082	2.675	0.51482	D	0.999928	D	0.89917	1.0	D	0.87578	0.998	D	0.99312	1.0904	10	0.72032	D	0.01	-19.1187	13.6173	0.62118	1.0:0.0:0.0:0.0	.	2120	P00451	FA8_HUMAN	L	2120	ENSP00000353393:F2120L	ENSP00000353393:F2120L	F	-	1	0	F8	153777617	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	8.107000	0.89557	1.895000	0.54865	0.486000	0.48141	TTT	.		0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
FNIP1	96459	broad.mit.edu;bcgsc.ca	37	5	131008597	131008597	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr5:131008597C>T	ENST00000510461.1	-	14	1635	c.1540G>A	c.(1540-1542)Ggc>Agc	p.G514S	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.G469S|FNIP1_ENST00000307968.7_Missense_Mutation_p.G486S	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	514					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACGGGAGAGCCAATAGCGCCA	0.393																																					p.G514S		.											.	FNIP1	92	0			c.G1540A						.						65.0	68.0	67.0					5																	131008597		2197	4295	6492	SO:0001583	missense	96459	exon14			GAGAGCCAATAGC	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1540G>A	5.37:g.131008597C>T	ENSP00000421985:p.Gly514Ser	98.0	0.0		66.0	0.0	NM_133372	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648963	0.87958	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.74209	-0.82;-0.82;-0.82	5.88	5.88	0.94601	.	.	.	.	.	D	0.88559	0.6469	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.996	D	0.89072	0.3470	9	0.72032	D	0.01	-6.8631	20.2228	0.98330	0.0:1.0:0.0:0.0	.	514;486;514	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	S	486;469;274;514	ENSP00000309266:G486S;ENSP00000310453:G469S;ENSP00000421985:G514S	ENSP00000310453:G469S	G	-	1	0	FNIP1	131036496	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.487000	0.81328	2.789000	0.95967	0.655000	0.94253	GGC	.		0.393	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372	
GRM2	2912	broad.mit.edu;bcgsc.ca	37	3	51749655	51749664	+	Frame_Shift_Del	DEL	CTTCATTGCC	CTTCATTGCC	-			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	CTTCATTGCC	CTTCATTGCC	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr3:51749655_51749664delCTTCATTGCC	ENST00000395052.3	+	4	2100_2109	c.1866_1875delCTTCATTGCC	c.(1864-1875)atcttcattgccfs	p.IFIA622fs	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	622					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGACCTTCATCTTCATTGCCAAGCCATCCA	0.567																																					p.622_625del		.											.	GRM2	522	0			c.1866_1875del						.																																			SO:0001589	frameshift_variant	2912	exon4			CTTCATCTTCATT	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1866_1875delCTTCATTGCC	3.37:g.51749655_51749664delCTTCATTGCC	ENSP00000378492:p.Ile622fs	200.0	0.0		220.0	0.0	NM_000839	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Frame_Shift_Del	DEL	ENST00000395052.3	37	CCDS2834.1																																																																																			.		0.567	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1		
IL6ST	3572	broad.mit.edu;bcgsc.ca	37	5	55260061	55260075	+	In_Frame_Del	DEL	AATACACAGTAGAAT	AATACACAGTAGAAT	-			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	AATACACAGTAGAAT	AATACACAGTAGAAT	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr5:55260061_55260075delAATACACAGTAGAAT	ENST00000381298.2	-	6	869_883	c.557_571delATTCTACTGTGTATT	c.(556-573)tattctactgtgtatttt>ttt	p.YSTVY186del	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_In_Frame_Del_p.YSTVY186del|IL6ST_ENST00000396816.1_In_Frame_Del_p.ILLCI44del|IL6ST_ENST00000522633.2_In_Frame_Del_p.YSTVY186del|IL6ST_ENST00000502326.3_In_Frame_Del_p.YSTVY186del|IL6ST_ENST00000536319.1_In_Frame_Del_p.YSTVY186del|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_In_Frame_Del_p.YSTVY186del|IL6ST_ENST00000577363.1_5'UTR|IL6ST_ENST00000336909.5_In_Frame_Del_p.YSTVY186del	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	186	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.Y186_Y190delYSTVY(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGTTGACAAAATACACAGTAGAATAATCAACAGT	0.367			O		hepatocellular ca																																p.186_191del		.		Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	.	IL6ST	290	1	Deletion - In frame(1)	liver(1)	c.557_571del						.																																			SO:0001651	inframe_deletion	3572	exon6			TGACAAAATACAC	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.557_571delATTCTACTGTGTATT	5.37:g.55260061_55260075delAATACACAGTAGAAT	ENSP00000370698:p.Tyr186_Tyr190del	326.0	0.0		299.0	0.0	NM_175767	A0N0L4|Q5FC04|Q9UQ41	In_Frame_Del	DEL	ENST00000381298.2	37	CCDS3971.1																																																																																			.		0.367	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	
MAP2	4133	broad.mit.edu;bcgsc.ca	37	2	210560370	210560370	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr2:210560370C>G	ENST00000360351.4	+	7	3982	c.3476C>G	c.(3475-3477)tCt>tGt	p.S1159C	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S1155C|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1159					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCAGAATCATCTCTAATTCAA	0.458																																					p.S1159C	Pancreas(27;423 979 28787 29963)	.											.	MAP2	591	0			c.C3476G						.						71.0	67.0	69.0					2																	210560370		2203	4300	6503	SO:0001583	missense	4133	exon7			AATCATCTCTAAT		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3476C>G	2.37:g.210560370C>G	ENSP00000353508:p.Ser1159Cys	143.0	1.0		176.0	0.0	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191524	0.38707	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25749	1.78;1.78	5.83	5.83	0.93111	MAP2/Tau projection (1);	0.106321	0.42420	D	0.000708	T	0.46132	0.1377	L	0.53249	1.67	0.18873	N	0.999988	D;D	0.69078	0.996;0.997	P;D	0.63113	0.855;0.911	T	0.31943	-0.9925	10	0.59425	D	0.04	-15.1716	18.2989	0.90157	0.0:1.0:0.0:0.0	.	1155;1159	P11137-3;P11137	.;MAP2_HUMAN	C	1159;1155	ENSP00000353508:S1159C;ENSP00000392164:S1155C	ENSP00000353508:S1159C	S	+	2	0	MAP2	210268615	0.008000	0.16893	1.000000	0.80357	0.981000	0.71138	2.135000	0.42112	2.775000	0.95449	0.650000	0.86243	TCT	.		0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
PDE1B	5153	ucsc.edu;bcgsc.ca	37	12	54970385	54970385	+	Silent	SNP	G	G	A			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr12:54970385G>A	ENST00000243052.3	+	14	1843	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.V428V|PDE1B_ENST00000550620.1_Silent_p.V449V|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	469	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTCTGGATGTGGAAGTGGGAG	0.572																																					p.V469V		.											.	PDE1B	92	0			c.G1407A						.						75.0	68.0	70.0					12																	54970385		2203	4300	6503	SO:0001819	synonymous_variant	5153	exon14			GGATGTGGAAGTG	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1407G>A	12.37:g.54970385G>A		73.0	0.0		72.0	0.0	NM_000924	Q92825|Q96KP3	Silent	SNP	ENST00000243052.3	37	CCDS8882.1																																																																																			.		0.572	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1		
PLCG2	5336	broad.mit.edu;ucsc.edu	37	16	81819689	81819689	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr16:81819689G>A	ENST00000359376.3	+	2	309	c.95G>A	c.(94-96)aGc>aAc	p.S32N		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	32	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACTGTGTTCAGCTTCCGCAAG	0.582																																					p.S32N		.											.	PLCG2	892	0			c.G95A						.						67.0	74.0	72.0					16																	81819689		2024	4176	6200	SO:0001583	missense	5336	exon2			TGTTCAGCTTCCG		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.95G>A	16.37:g.81819689G>A	ENSP00000352336:p.Ser32Asn	100.0	0.0		104.0	0.0	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211517	0.39102	.	.	ENSG00000197943	ENST00000359376	T	0.64085	-0.08	5.14	4.16	0.48862	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.152577	0.56097	N	0.000022	T	0.43077	0.1231	N	0.14661	0.345	0.34417	D	0.697037	B	0.10296	0.003	B	0.11329	0.006	T	0.49173	-0.8967	10	0.36615	T	0.2	.	10.3101	0.43704	0.1537:0.0:0.8463:0.0	.	32	P16885	PLCG2_HUMAN	N	32	ENSP00000352336:S32N	ENSP00000352336:S32N	S	+	2	0	PLCG2	80377190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.441000	0.73439	1.127000	0.42034	0.655000	0.94253	AGC	.		0.582	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
SLC10A2	6555	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	103698606	103698606	+	Silent	SNP	A	A	G			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr13:103698606A>G	ENST00000245312.3	-	6	1520	c.924T>C	c.(922-924)taT>taC	p.Y308Y		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	308					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TGTATGCCACATAAACTAGAA	0.333																																					p.Y308Y		.											.	SLC10A2	94	0			c.T924C						.						81.0	72.0	75.0					13																	103698606		2203	4298	6501	SO:0001819	synonymous_variant	6555	exon6			TGCCACATAAACT	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.924T>C	13.37:g.103698606A>G		235.0	2.0		241.0	0.0	NM_000452	A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	CCDS9506.1																																																																																			.		0.333	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1		
STAU1	6780	ucsc.edu;bcgsc.ca	37	20	47741040	47741040	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr20:47741040T>C	ENST00000371856.2	-	7	1104	c.694A>G	c.(694-696)Aaa>Gaa	p.K232E	STAU1_ENST00000371828.3_Missense_Mutation_p.K157E|STAU1_ENST00000340954.7_Missense_Mutation_p.K151E|STAU1_ENST00000347458.5_Missense_Mutation_p.K151E|STAU1_ENST00000371802.1_Missense_Mutation_p.K157E|STAU1_ENST00000360426.4_Missense_Mutation_p.K151E|STAU1_ENST00000371792.1_Missense_Mutation_p.K151E	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	232	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTCTTGCTTTTCCCTTCACCT	0.507																																					p.K232E		.											.	STAU1	230	0			c.A694G						.						126.0	139.0	135.0					20																	47741040		2203	4300	6503	SO:0001583	missense	6780	exon7			TGCTTTTCCCTTC		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.694A>G	20.37:g.47741040T>C	ENSP00000360922:p.Lys232Glu	78.0	0.0		108.0	0.0	NM_017453	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	T	32	5.112803	0.94339	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.33	5.33	0.75918	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.87059	0.6083	M	0.84326	2.69	0.80722	D	1	D;D	0.54964	0.969;0.969	P;P	0.59288	0.855;0.81	D	0.89121	0.3503	10	0.72032	D	0.01	-19.4204	15.3236	0.74141	0.0:0.0:0.0:1.0	.	232;157	O95793;Q5JW29	STAU1_HUMAN;.	E	157;151;232;151;151;151;157;151;157	ENSP00000360893:K157E;ENSP00000345425:K151E;ENSP00000360922:K232E;ENSP00000353604:K151E;ENSP00000323443:K151E;ENSP00000360867:K157E;ENSP00000360857:K151E;ENSP00000416779:K157E	ENSP00000345425:K151E	K	-	1	0	STAU1	47174447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	2.017000	0.59298	0.528000	0.53228	AAA	.		0.507	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453	
ZNF271	10778	broad.mit.edu;bcgsc.ca	37	18	32889822	32889822	+	RNA	SNP	G	G	T	rs569387923|rs58173030	byFrequency	TCGA-DD-A1ED-01A-11D-A152-10	TCGA-DD-A1ED-10A-01D-A152-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	4c3eda94-56f4-46d3-8c88-50d476e773f6	09455f77-1bc1-4f4b-9b75-dd79fd3237c3	g.chr18:32889822G>T	ENST00000399070.3	+	0	4216					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						atggacatgagattggtgtcc	0.413																																					.		.											.	ZNF271	90	0			.						.																																					10778	.			ACATGAGATTGGT	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.32889822G>T		91.0	0.0		71.0	0.0	.	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	ENST00000399070.3	37																																																																																				.		0.413	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565	
