#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_Site_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_IGV	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	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_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
CSMD2	114784	mdanderson.org	37	1	34276465	34276465	+	Splice_Site	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr1:34276465G>T	ENST00000373381.4	-	10	1501	c.1325C>A	c.(1324-1326)gCc>gAc	p.A442D	CSMD2_ENST00000338325.1_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	402	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACACATGCGGGCTGCAGAGGA	0.527																																					p.A402D													.	.			0			c.C1205A												85.0	86.0	85.0					1																	34276465		2203	4300	6503	SO:0001630	splice_region_variant	114784	exon10			ATGCGGGCTGCAG	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1325-1C>A	1.37:g.34276465G>T			45	0	0		49	0.06	3	NM_052896	4	0.00	0	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	24.0	4.484833	0.84854	.	.	ENSG00000121904	ENST00000373381	T	0.25579	1.79	5.81	4.89	0.63831	Complement control module (1);Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	M	0.92412	3.305	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.73380	0.98;0.959	T	0.71925	-0.4445	10	0.59425	D	0.04	.	15.9979	0.80265	0.0:0.1348:0.8652:0.0	.	402;442	Q7Z408;E7EUA6	CSMD2_HUMAN;.	D	442	ENSP00000362479:A442D	ENSP00000241312:A402D	A	-	2	0	CSMD2	34049052	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.761000	0.98940	1.446000	0.47643	-0.274000	0.10170	GCC			0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_052896	Missense_Mutation
SUSD4	55061	mdanderson.org	37	1	223396687	223396687	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr1:223396687G>T	ENST00000343846.3	-	7	1981	c.1348C>A	c.(1348-1350)Caa>Aaa	p.Q450K	SUSD4_ENST00000454695.2_Missense_Mutation_p.Q290K|SUSD4_ENST00000494793.2_Missense_Mutation_p.Q450K|SUSD4_ENST00000366878.4_Missense_Mutation_p.Q450K|SUSD4_ENST00000484758.2_Missense_Mutation_p.Q381K|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	450						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTGCTCTCTTGGCACCTGGGA	0.582																																					p.Q450K													.	.			0			c.C1348A												62.0	68.0	66.0					1																	223396687		2068	4216	6284	SO:0001583	missense	55061	exon8			TCTCTTGGCACCT	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1348C>A	1.37:g.223396687G>T	ENSP00000344219:p.Gln450Lys		45	0	0		39	0.08	3	NM_017982	7	0.00	0	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	9.604	1.129396	0.21041	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.29655	1.56;1.56;1.64	5.16	4.23	0.50019	.	0.442647	0.19335	N	0.116806	T	0.22513	0.0543	L	0.34521	1.04	0.80722	D	1	P	0.35433	0.501	B	0.27608	0.081	T	0.02431	-1.1160	10	0.30854	T	0.27	-0.4267	15.2746	0.73732	0.0:0.141:0.8589:0.0	.	450	Q5VX71	SUSD4_HUMAN	K	450;450;381;290	ENSP00000344219:Q450K;ENSP00000355843:Q450K;ENSP00000399288:Q290K	ENSP00000344219:Q450K	Q	-	1	0	SUSD4	221463310	1.000000	0.71417	0.873000	0.34254	0.053000	0.15095	5.764000	0.68826	1.151000	0.42436	0.655000	0.94253	CAA			0.582	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092592.2		NM_017982	
WDR26	80232	broad.mit.edu	37	1	224581650	224581651	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr1:224581650_224581651delGT	ENST00000414423.2	-	13	2032_2033	c.1839_1840delAC	c.(1837-1842)acacgtfs	p.R614fs	WDR26_ENST00000295024.6_Frame_Shift_Del_p.R467fs|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	614						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TTTACTGTACGTGTGTGCCCTG	0.446																																					p.613_614del													.	WDR26	104		0			c.1839_1840del																																									SO:0001589	frameshift_variant	80232	exon13			CTGTACGTGTGTG	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1839_1840delAC	1.37:g.224581654_224581655delGT	ENSP00000408108:p.Arg614fs		224	0	0		266	0.03	8	NM_025160	247	0.00	0	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Frame_Shift_Del	DEL	ENST00000414423.2	37	CCDS31037.2																																																																																					0.446	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000091760.2		NM_025160	
OR6F1	343169	mdanderson.org	37	1	247875953	247875953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr1:247875953G>T	ENST00000302084.2	-	1	152	c.105C>A	c.(103-105)taC>taA	p.Y35*	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGTGAGGATGTACATCACCA	0.468																																					p.Y35X													.	.			0			c.C105A												148.0	145.0	146.0					1																	247875953		2203	4300	6503	SO:0001587	stop_gained	343169	exon1			GAGGATGTACATC	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.105C>A	1.37:g.247875953G>T	ENSP00000305640:p.Tyr35*		43	0	0		41	0.07	3	NM_001005286	0		0	B2RNV6|Q6IF02|Q96R39	Nonsense_Mutation	SNP	ENST00000302084.2	37	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673836	0.29693	.	.	ENSG00000169214	ENST00000302084	.	.	.	3.99	1.04	0.20106	.	0.000000	0.39687	N	0.001285	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.6925	8.7773	0.34769	0.2836:0.0:0.7164:0.0	.	.	.	.	X	35	.	ENSP00000305640:Y35X	Y	-	3	2	OR6F1	245942576	0.001000	0.12720	0.294000	0.24946	0.037000	0.13140	-0.413000	0.07123	0.443000	0.26582	-0.229000	0.12294	TAC			0.468	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096870.1		NM_001005286	
TUBB8	347688	broad.mit.edu	37	10	93106	93106	+	Missense_Mutation	SNP	G	G	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:93106G>A	ENST00000309812.4	-	4	1288	c.1226C>T	c.(1225-1227)aCc>aTc	p.T409I	TUBB8_ENST00000447903.2_Missense_Mutation_p.T337I|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	409					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTCGGCCTCGGTGAATTCCAT	0.552																																					p.T409I	Pancreas(192;2041 3010 9013 18103)												.	TUBB8	62		0			c.C1226T												24.0	26.0	25.0					10																	93106		2185	4252	6437	SO:0001583	missense	347688	exon4			GCCTCGGTGAATT	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.1226C>T	10.37:g.93106G>A	ENSP00000311042:p.Thr409Ile		85	0	0		52	0.06	3	NM_177987	63	0.00	0	Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280088	0.40294	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.71934	-0.61	.	.	.	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	U	0.000010	T	0.77798	0.4184	M	0.71206	2.165	0.36139	D	0.846632	D;D	0.67145	0.995;0.996	D;P	0.70487	0.969;0.859	T	0.77981	-0.2383	9	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	372;409	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	I	337;375;372;409	ENSP00000403895:T337I	ENSP00000272035:T375I	T	-	2	0	RP11-631M21.2	83106	1.000000	0.71417	0.519000	0.27824	0.523000	0.34469	6.543000	0.73874	0.119000	0.18210	0.121000	0.15741	ACC			0.552	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467795.1		NM_177987	
FAM208B	54906	mdanderson.org	37	10	5790488	5790488	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:5790488G>T	ENST00000328090.5	+	15	5729	c.5104G>T	c.(5104-5106)Gag>Tag	p.E1702*		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1702																	GCCTGAAGCTGAGTTACATAA	0.478																																					p.E1702X													.	.			0			c.G5104T												54.0	55.0	55.0					10																	5790488		2109	4238	6347	SO:0001587	stop_gained	54906	exon15			GAAGCTGAGTTAC	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5104G>T	10.37:g.5790488G>T	ENSP00000328426:p.Glu1702*		38	0.0263157895	1		30	0.10	3	NM_017782	68	0.00	0	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Nonsense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	46	12.882802	0.99703	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	.	.	.	5.23	-1.09	0.09904	.	0.851065	0.10178	N	0.706230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	6.0062	0.19547	0.2715:0.2544:0.474:0.0	.	.	.	.	X	1702;897	.	ENSP00000328426:E1702X	E	+	1	0	C10orf18	5830494	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.219000	0.17641	-0.087000	0.12528	-0.253000	0.11424	GAG			0.478	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046571.2		NM_017782	
SKIDA1	387640	mdanderson.org	37	10	21806056	21806056	+	Silent	SNP	G	G	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:21806056G>A	ENST00000449193.2	-	4	2948	c.696C>T	c.(694-696)gcC>gcT	p.A232A	SKIDA1_ENST00000444772.3_Intron|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	232	Ala-rich.			Missing (in Ref. 2; BAD18601). {ECO:0000305}.		nucleus (GO:0005634)											cggcagcagcggcggcggcgg	0.766																																					p.A232A													.	.			0			c.C696T												1.0	1.0	1.0					10																	21806056		64	241	305	SO:0001819	synonymous_variant	387640	exon4			AGCAGCGGCGGCG	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.696C>T	10.37:g.21806056G>A			15	0	0		18	0.17	3	NM_207371	0		0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.766	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371	
ZNF438	220929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	31137859	31137859	+	Missense_Mutation	SNP	C	C	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:31137859C>T	ENST00000361310.3	-	6	1804	c.1475G>A	c.(1474-1476)aGc>aAc	p.S492N	ZNF438_ENST00000538351.2_Missense_Mutation_p.S443N|ZNF438_ENST00000444692.2_Missense_Mutation_p.S482N|ZNF438_ENST00000413025.1_Missense_Mutation_p.S492N|ZNF438_ENST00000375311.1_Missense_Mutation_p.S56N|ZNF438_ENST00000452305.1_Missense_Mutation_p.S482N|ZNF438_ENST00000436087.2_Missense_Mutation_p.S492N|ZNF438_ENST00000331737.6_Missense_Mutation_p.S482N|ZNF438_ENST00000442986.1_Missense_Mutation_p.S492N			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	492					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GAACACGGAGCTGGGCTTAGG	0.478																																					p.S492N													.	.			0			c.G1475A												137.0	137.0	137.0					10																	31137859		2203	4300	6503	SO:0001583	missense	220929	exon7			ACGGAGCTGGGCT	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1475G>A	10.37:g.31137859C>T	ENSP00000354663:p.Ser492Asn		246	0	0		239	0.15	35	NM_182755	32	0.03	1	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243174	0.39697	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15	5.59	2.65	0.31530	.	0.883469	0.10378	N	0.681932	T	0.09686	0.0238	L	0.43152	1.355	0.09310	N	1	P;P	0.49090	0.868;0.919	B;B	0.43575	0.243;0.424	T	0.27054	-1.0085	10	0.45353	T	0.12	-4.4377	8.7154	0.34408	0.4943:0.4358:0.0:0.0699	.	492;482	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	N	482;492;492;492;492;482;482;443;211;56	ENSP00000333571:S482N;ENSP00000354663:S492N;ENSP00000406934:S492N;ENSP00000412363:S492N;ENSP00000387546:S492N;ENSP00000413060:S482N;ENSP00000410898:S482N;ENSP00000445461:S443N;ENSP00000364460:S56N	ENSP00000333571:S482N	S	-	2	0	ZNF438	31177865	0.000000	0.05858	0.274000	0.24659	0.701000	0.40568	-0.409000	0.07160	0.279000	0.22186	0.655000	0.94253	AGC			0.478	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000277006.1		NM_182755	
MMRN2	79812	mdanderson.org	37	10	88704996	88704996	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:88704996G>T	ENST00000372027.5	-	4	751	c.430C>A	c.(430-432)Cct>Act	p.P144T	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	144					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CTGTCACCAGGATCTGCAGGC	0.562																																					p.P144T													.	.			0			c.C430A												63.0	53.0	56.0					10																	88704996		2203	4300	6503	SO:0001583	missense	79812	exon4			CACCAGGATCTGC	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.430C>A	10.37:g.88704996G>T	ENSP00000361097:p.Pro144Thr		66	0	0		46	0.07	3	NM_024756	19	0.00	0	Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	6.629	0.484428	0.12641	.	.	ENSG00000173269	ENST00000372027	T	0.15372	2.43	4.68	0.692	0.18050	.	0.647889	0.15092	N	0.281009	T	0.13030	0.0316	L	0.57536	1.79	0.09310	N	1	B;P	0.35328	0.255;0.495	B;B	0.22753	0.038;0.041	T	0.13124	-1.0521	10	0.34782	T	0.22	-0.2494	8.2798	0.31894	0.0866:0.4618:0.4515:0.0	.	83;144	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	T	144	ENSP00000361097:P144T	ENSP00000361097:P144T	P	-	1	0	MMRN2	88694976	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.487000	0.22356	0.134000	0.18681	-0.886000	0.02939	CCT			0.562	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049179.2		NM_024756	
ANKRD1	27063	mdanderson.org	37	10	92675380	92675380	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:92675380G>T	ENST00000371697.3	-	8	1017	c.769C>A	c.(769-771)Cat>Aat	p.H257N		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	257					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				ACCGCATCATGCAACGGGGTA	0.517																																					p.H257N													.	.			0			c.C769A												114.0	103.0	107.0					10																	92675380		2203	4300	6503	SO:0001583	missense	27063	exon8			CATCATGCAACGG	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.769C>A	10.37:g.92675380G>T	ENSP00000360762:p.His257Asn		74	0	0		53	0.06	3	NM_014391	0		0	Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971617	0.74246	.	.	ENSG00000148677	ENST00000371697	T	0.61742	0.08	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.81250	0.4783	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84502	0.0617	10	0.87932	D	0	.	19.5118	0.95144	0.0:0.0:1.0:0.0	.	257	Q15327	ANKR1_HUMAN	N	257	ENSP00000360762:H257N	ENSP00000360762:H257N	H	-	1	0	ANKRD1	92665360	1.000000	0.71417	0.957000	0.39632	0.358000	0.29455	9.455000	0.97625	2.590000	0.87494	0.650000	0.86243	CAT			0.517	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049357.1		NM_014391	
HSPA12A	259217	bcgsc.ca;mdanderson.org	37	10	118458220	118458220	+	Missense_Mutation	SNP	C	C	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:118458220C>T	ENST00000369209.3	-	5	576	c.472G>A	c.(472-474)Gca>Aca	p.A158T		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	158						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TTGCCATTTGCTGCCGTCAGG	0.493																																					p.A158T													.	HSPA12A	81		0			c.G472A												144.0	137.0	140.0					10																	118458220		1951	4156	6107	SO:0001583	missense	259217	exon5			CATTTGCTGCCGT	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.472G>A	10.37:g.118458220C>T	ENSP00000358211:p.Ala158Thr		80	0	0		72	0.07	5	NM_025015	8	0.00	0		Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666982	0.96745	.	.	ENSG00000165868	ENST00000369209	T	0.03889	3.77	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.17152	0.0412	L	0.54323	1.7	0.80722	D	1	D	0.62365	0.991	P	0.62649	0.905	T	0.00164	-1.1968	10	0.39692	T	0.17	.	19.6322	0.95713	0.0:1.0:0.0:0.0	.	158	O43301	HS12A_HUMAN	T	158	ENSP00000358211:A158T	ENSP00000358211:A158T	A	-	1	0	HSPA12A	118448210	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	4.947000	0.63583	2.652000	0.90054	0.655000	0.94253	GCA			0.493	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050530.1		NM_025015	
GPR26	2849	mdanderson.org	37	10	125426014	125426014	+	Silent	SNP	C	C	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:125426014C>T	ENST00000284674.1	+	1	144	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	31					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCTCTGCCTGCTGCACAGCGC	0.697																																					p.L31L													.	.			0			c.C91T												8.0	9.0	8.0					10																	125426014		2155	4229	6384	SO:0001819	synonymous_variant	2849	exon1			TGCCTGCTGCACA		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.91C>T	10.37:g.125426014C>T			36	0	0		37	0.08	3	NM_153442	0		0	Q2M2E2	Silent	SNP	ENST00000284674.1	37	CCDS7636.1																																																																																					0.697	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050850.1			
CTBP2	1488	mdanderson.org	37	10	126715930	126715930	+	Intron	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:126715930G>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.S133R	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)	p.S133S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGACCGGCCGGCTGACTCCTG	0.652																																					p.S133R													CTBP2,caecum,carcinoma,0,1	CTBP2	0	1	1	Substitution - coding silent(1)	large_intestine(1)	c.C399A												44.0	47.0	46.0					10																	126715930		2203	4300	6503	SO:0001627	intron_variant	1488	exon1			CGGCCGGCTGACT	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11635C>A	10.37:g.126715930G>T			53	0	0		30	0.10	3	NM_022802	1	0.00	0	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618331	0.46736	.	.	ENSG00000175029	ENST00000309035	D	0.93426	-3.22	4.7	4.7	0.59300	.	3.328400	0.00567	N	0.000300	D	0.92938	0.7753	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.67465	-0.5664	9	0.72032	D	0.01	.	18.2238	0.89910	0.0:0.0:1.0:0.0	.	133	P56545-2	.	R	133	ENSP00000311825:S133R	ENSP00000311825:S133R	S	-	3	2	CTBP2	126705920	0.406000	0.25344	0.984000	0.44739	0.853000	0.48598	1.467000	0.35321	2.608000	0.88229	0.655000	0.94253	AGC			0.652	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050900.3		NM_001083914	
DHX32	55760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	127526837	127526837	+	Silent	SNP	G	G	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr10:127526837G>A	ENST00000284690.3	-	10	2491	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Silent_p.F291F|DHX32_ENST00000284688.6_Silent_p.F586F|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	667						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGAATTTATGGAAGAGGACCC	0.408																																					p.F667F													.	.			0			c.C2001T												133.0	129.0	130.0					10																	127526837		2203	4300	6503	SO:0001819	synonymous_variant	55760	exon10			TTTATGGAAGAGG		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.2001C>T	10.37:g.127526837G>A			71	0	0		72	0.39	28	NM_018180	79	0.49	39	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	CCDS7652.1																																																																																					0.408	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050945.2		NM_018180	
MUC2	4583	mdanderson.org	37	11	1078504	1078504	+	Missense_Mutation	SNP	C	C	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:1078504C>G	ENST00000441003.2	+	6	739	c.712C>G	c.(712-714)Cag>Gag	p.Q238E	MUC2_ENST00000359061.5_Missense_Mutation_p.Q238E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	238	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCGGACTGTCAGGACCTGGT	0.697																																					p.Q238E													.	.			0			c.C712G												6.0	10.0	8.0					11																	1078504		1966	4080	6046	SO:0001583	missense	4583	exon6			GACTGTCAGGACC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.712C>G	11.37:g.1078504C>G	ENSP00000415183:p.Gln238Glu		20	0	0		24	0.13	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	7.538	0.660017	0.14645	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.76186	-1.0;-1.0	3.58	2.65	0.31530	.	1.093860	0.07132	N	0.845810	T	0.69205	0.3085	L	0.39397	1.21	0.09310	N	0.999993	B	0.26577	0.153	B	0.38296	0.27	T	0.51004	-0.8760	10	0.02654	T	1	.	12.3267	0.55015	0.1697:0.8303:0.0:0.0	.	238	E7EUV1	.	E	238	ENSP00000415183:Q238E;ENSP00000351956:Q238E	ENSP00000351956:Q238E	Q	+	1	0	MUC2	1068504	0.000000	0.05858	0.016000	0.15963	0.003000	0.03518	-0.126000	0.10563	0.691000	0.31592	0.561000	0.74099	CAG			0.697	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457	
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000536719.1_Missense_Mutation_p.K265R|TSG101_ENST00000357193.3_Missense_Mutation_p.K160R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					p.K265R	GBM(99;1348 1396 8611 26475 50572)												TSG101,NS,carcinoma,0,1	TSG101	43	1	0			c.A794G												262.0	254.0	257.0					11																	18505466		2199	4293	6492	SO:0001583	missense	7251	exon8			TGACCCTTTTTCA	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg		105	0.019047619	2		120	0.03	3	NM_006292	581	0.00	0	Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG			0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395906.1		NM_006292	
TMEM258	746	mdanderson.org	37	11	61563042	61563042	+	5'Flank	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:61563042G>T	ENST00000537328.1	-	0	0				FEN1_ENST00000305885.2_Missense_Mutation_p.R70L|FADS2_ENST00000574708.1_Intron|TMEM258_ENST00000543510.1_5'Flank	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)											ATGTTCTACCGCACCATTCGC	0.562																																					p.R70L													.	.			0			c.G209T												87.0	78.0	81.0					11																	61563042		2202	4299	6501	SO:0001631	upstream_gene_variant	2237	exon2			TCTACCGCACCAT		CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 10"""	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172		11.37:g.61563042G>T	Exception_encountered		55	0	0		41	0.07	3	NM_004111	221	0.00	0	A8K6L8|Q9D953|Q9Y2Q7	Missense_Mutation	SNP	ENST00000537328.1	37	CCDS8009.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841810	0.71488	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.70164	-0.46;-0.46	5.44	5.44	0.79542	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92916	0.6351	10	0.87932	D	0	-6.9095	19.6661	0.95893	0.0:0.0:1.0:0.0	.	70	P39748	FEN1_HUMAN	L	70	ENSP00000305480:R70L;ENSP00000445692:R70L	ENSP00000305480:R70L	R	+	2	0	FEN1	61319618	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	7.506000	0.81665	2.724000	0.93272	0.561000	0.74099	CGC			0.562	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398577.1		NM_014206	
TBX10	347853	ucsc.edu;bcgsc.ca	37	11	67399115	67399115	+	Silent	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:67399115G>T	ENST00000335385.3	-	8	1206	c.1119C>A	c.(1117-1119)ccC>ccA	p.P373P	NUDT8_ENST00000376693.2_5'Flank|NUDT8_ENST00000301490.4_5'Flank	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	373					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						ACACCACAGTGGGGGACAGGA	0.662																																					p.P373P													.	TBX10	25		0			c.C1119A												14.0	14.0	14.0					11																	67399115		2196	4282	6478	SO:0001819	synonymous_variant	347853	exon8			CACAGTGGGGGAC	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.1119C>A	11.37:g.67399115G>T			22	0	0		25	0.16	4	NM_005995	0		0	Q14D64|Q86XS3	Silent	SNP	ENST00000335385.3	37	CCDS31621.1																																																																																					0.662	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394034.1		NM_005995	
INPPL1	3636	mdanderson.org	37	11	71942580	71942580	+	Silent	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:71942580G>T	ENST00000298229.2	+	13	1740	c.1536G>T	c.(1534-1536)gtG>gtT	p.V512V	INPPL1_ENST00000541756.1_Silent_p.V270V|INPPL1_ENST00000538751.1_Silent_p.V270V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	512					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGTGGCAGTGCTGGTCAAGC	0.577																																					p.V512V													.	.			0			c.G1536T												122.0	92.0	102.0					11																	71942580		2200	4293	6493	SO:0001819	synonymous_variant	3636	exon13			GGCAGTGCTGGTC	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1536G>T	11.37:g.71942580G>T			55	0	0		42	0.07	3	NM_001567	160	0.00	0	B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	CCDS8213.1																																																																																					0.577	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396789.1		NM_001567	
SIDT2	51092	bcgsc.ca	37	11	117064645	117064647	+	In_Frame_Del	DEL	TCT	TCT	-	rs369807521		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	TCT	TCT					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:117064645_117064647delTCT	ENST00000324225.4	+	24	2819_2821	c.2288_2290delTCT	c.(2287-2292)ctcttc>ctc	p.F767del	SIDT2_ENST00000431081.2_In_Frame_Del_p.F764del|SIDT2_ENST00000532062.1_In_Frame_Del_p.F59del	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	767	Poly-Phe.				cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGCTTCGCGCTCTTCTTCTTCTT	0.601																																					p.763_764del													.	SIDT2	82		0			c.2288_2290del																																									SO:0001651	inframe_deletion	51092	exon24			TCGCGCTCTTCTT	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2288_2290delTCT	11.37:g.117064654_117064656delTCT	ENSP00000314023:p.Phe767del		100	0	0		33	0.15	5	NM_001040455	82	0.00	0	Q8NBY7|Q9Y357	In_Frame_Del	DEL	ENST00000324225.4	37	CCDS31682.1																																																																																					0.601	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392836.1		NM_015996	
NCAPD3	23310	mdanderson.org	37	11	134063930	134063930	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr11:134063930G>T	ENST00000534548.2	-	15	1869	c.1805C>A	c.(1804-1806)tCt>tAt	p.S602Y		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	602					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCAGTAAGAGACTGGAGGGC	0.448																																					p.S602Y													.	.			0			c.C1805A												64.0	63.0	63.0					11																	134063930		2201	4297	6498	SO:0001583	missense	23310	exon15			GTAAGAGACTGGA	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1805C>A	11.37:g.134063930G>T	ENSP00000433681:p.Ser602Tyr		84	0	0		47	0.06	3	NM_015261	32	0.00	0	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765541	0.69878	.	.	ENSG00000151503	ENST00000534548	T	0.66460	-0.21	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.049005	0.85682	D	0.000000	D	0.82323	0.5012	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.81595	-0.0861	10	0.48119	T	0.1	-22.4763	19.8686	0.96842	0.0:0.0:1.0:0.0	.	602	P42695	CNDD3_HUMAN	Y	602	ENSP00000433681:S602Y	ENSP00000431612:S602Y	S	-	2	0	NCAPD3	133569140	1.000000	0.71417	0.935000	0.37517	0.855000	0.48748	6.429000	0.73387	2.768000	0.95171	0.655000	0.94253	TCT			0.448	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393575.2		NM_015261	
PLCZ1	89869	mdanderson.org	37	12	18837085	18837085	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:18837085G>T	ENST00000538330.1	-	10	1447	c.1066C>A	c.(1066-1068)Cca>Aca	p.P356T	PLCZ1_ENST00000447925.2_Missense_Mutation_p.P572T|PLCZ1_ENST00000435379.1_Missense_Mutation_p.P379T|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000534932.1_Missense_Mutation_p.P55T|PLCZ1_ENST00000539875.1_Missense_Mutation_p.P381T|PLCZ1_ENST00000266505.7_Missense_Mutation_p.P574T					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CATAGAAGTGGCAAAGTATAT	0.333																																					p.P574T													.	.			0			c.C1720A												89.0	85.0	87.0					12																	18837085		2203	4298	6501	SO:0001583	missense	89869	exon14			GAAGTGGCAAAGT	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1066C>A	12.37:g.18837085G>T	ENSP00000445880:p.Pro356Thr		79	0	0		128	0.04	5	NM_033123	0		0		Missense_Mutation	SNP	ENST00000538330.1	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.176273	0.78564	.	.	ENSG00000139151	ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.15	5.15	0.70609	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	M	0.88640	2.97	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56655	-0.7943	10	0.87932	D	0	.	15.4936	0.75632	0.0:0.0:1.0:0.0	.	574;356	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	T	55;356;574;572;379;381	ENSP00000438826:P55T;ENSP00000445880:P356T;ENSP00000266505:P574T;ENSP00000402358:P572T;ENSP00000400504:P379T;ENSP00000445026:P381T	ENSP00000266505:P574T	P	-	1	0	PLCZ1	18728352	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.611000	0.82962	2.674000	0.91012	0.655000	0.94253	CCA			0.333	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000401666.3		NM_033123	
CAPZA3	93661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	18891950	18891950	+	Missense_Mutation	SNP	G	G	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:18891950G>A	ENST00000317658.3	+	1	906	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	250					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GTTATCCAATGAAGCCCTGAG	0.433																																					p.E250K													.	.			0			c.G748A												49.0	52.0	51.0					12																	18891950		2203	4299	6502	SO:0001583	missense	93661	exon1			TCCAATGAAGCCC	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.748G>A	12.37:g.18891950G>A	ENSP00000326238:p.Glu250Lys		41	0	0		58	0.31	18	NM_033328	0		0	Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201227	0.22121	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.63	2.65	0.31530	.	0.620826	0.14115	N	0.340444	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B	0.31413	0.322	B	0.29176	0.099	T	0.15009	-1.0452	9	0.59425	D	0.04	-11.4578	8.1429	0.31093	0.0:0.32:0.5157:0.1643	.	250	Q96KX2	CAZA3_HUMAN	K	250	.	ENSP00000326238:E250K	E	+	1	0	CAPZA3	18783217	0.827000	0.29292	0.307000	0.25127	0.631000	0.37964	2.406000	0.44557	1.141000	0.42275	0.462000	0.41574	GAA			0.433	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401902.1		NM_033328	
KIF21A	55605	broad.mit.edu	37	12	39735383	39735383	+	Silent	SNP	C	C	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000395670.3_Silent_p.E615E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																					p.E615E													KIF21A,NS,carcinoma,0,2	KIF21A	238	2	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)	c.G1845A												85.0	82.0	83.0					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605	exon14			CTCCTCCTCTTCT	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1845G>A	12.37:g.39735383C>T			128	0	0		144	0.02	3	NM_001173464	27	0.00	0	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	CCDS53776.1																																																																																					0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403581.1		NM_017641	
ESYT1	23344	broad.mit.edu	37	12	56532024	56532024	+	Missense_Mutation	SNP	A	A	C			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:56532024A>C	ENST00000394048.5	+	21	2569	c.2305A>C	c.(2305-2307)Acc>Ccc	p.T769P	ESYT1_ENST00000267113.4_Missense_Mutation_p.T779P|ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.T779P	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	769					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGAGCGTCTCACCCCCCGTCC	0.602																																					p.T779P													.	ESYT1	84		0			c.A2335C												116.0	118.0	117.0					12																	56532024		2203	4300	6503	SO:0001583	missense	23344	exon21			CGTCTCACCCCCC	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2305A>C	12.37:g.56532024A>C	ENSP00000377612:p.Thr769Pro		120	0.0083333333	1		132	0.07	9	NM_001184796	144	0.04	6	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.273565	0.40194	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.58210	0.37;0.35;0.35	5.47	5.47	0.80525	.	0.393724	0.28109	N	0.016570	T	0.35393	0.0930	N	0.13098	0.295	0.33638	D	0.606876	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42515	-0.9447	10	0.23302	T	0.38	-13.1828	13.8133	0.63276	1.0:0.0:0.0:0.0	.	779;769	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	P	769;723;779;779	ENSP00000377612:T769P;ENSP00000267113:T779P;ENSP00000445952:T779P	ENSP00000267113:T779P	T	+	1	0	ESYT1	54818291	0.699000	0.27786	0.982000	0.44146	0.931000	0.56810	2.474000	0.45154	2.211000	0.71520	0.459000	0.35465	ACC			0.602	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000407906.1		NM_015292	
KIAA1033	23325	mdanderson.org	37	12	105505042	105505042	+	Splice_Site	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:105505042G>T	ENST00000332180.5	+	2	288	c.201G>T	c.(199-201)aaG>aaT	p.K67N		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TAGCATTAAAGGTTTGATTTG	0.284																																					p.K67N													.	.			0			c.G201T												48.0	44.0	45.0					12																	105505042		1787	4061	5848	SO:0001630	splice_region_variant	23325	exon2			ATTAAAGGTTTGA	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.201+1G>T	12.37:g.105505042G>T			43	0	0		46	0.07	3	NM_015275	28	0.00	0		Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716302	0.30413	.	.	ENSG00000136051	ENST00000332180	T	0.29655	1.56	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	L	0.40543	1.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.03969	-1.0988	10	0.21014	T	0.42	.	15.2962	0.73910	0.0:0.0:0.8594:0.1406	.	67;67	B7ZKT9;Q2M389	.;WASH7_HUMAN	N	67	ENSP00000328062:K67N	ENSP00000328062:K67N	K	+	3	2	KIAA1033	104029172	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.436000	0.66538	2.646000	0.89796	0.462000	0.41574	AAG			0.284	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406138.4		NM_015275	Missense_Mutation
TMEM132C	92293	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	129190461	129190461	+	Missense_Mutation	SNP	G	G	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:129190461G>A	ENST00000435159.2	+	9	2948	c.2948G>A	c.(2947-2949)aGc>aAc	p.S983N	TMEM132C_ENST00000315208.8_Missense_Mutation_p.S599N|TMEM132C_ENST00000537538.1_Missense_Mutation_p.S368N	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	983						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CTCCTGGAGAGCATGGGGGAT	0.637																																					p.S983N													.	.			0			c.G2948A												20.0	28.0	25.0					12																	129190461		692	1591	2283	SO:0001583	missense	92293	exon9			TGGAGAGCATGGG	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.2948G>A	12.37:g.129190461G>A	ENSP00000410852:p.Ser983Asn		88	0	0		86	0.08	7	NM_001136103	31	0.06	2	Q69YX8	Missense_Mutation	SNP	ENST00000435159.2	37		.	.	.	.	.	.	.	.	.	.	G	0.006	-2.054759	0.00390	.	.	ENSG00000181234	ENST00000435159;ENST00000315208;ENST00000537538	T;T;T	0.09163	3.76;3.45;3.01	4.73	-6.36	0.01969	.	0.362513	0.25060	N	0.033442	T	0.01353	0.0044	N	0.00219	-1.825	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23940	-1.0174	10	0.02654	T	1	.	7.6544	0.28367	0.5378:0.1094:0.3528:0.0	.	983	Q8N3T6	T132C_HUMAN	N	983;599;368	ENSP00000410852:S983N;ENSP00000324458:S599N;ENSP00000438477:S368N	ENSP00000324458:S599N	S	+	2	0	TMEM132C	127756414	0.458000	0.25760	0.001000	0.08648	0.000000	0.00434	0.716000	0.25836	-1.463000	0.01904	-1.080000	0.02220	AGC			0.637	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				XM_044062	
TMEM132D	121256	broad.mit.edu	37	12	130184606	130184606	+	Silent	SNP	G	G	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr12:130184606G>A	ENST00000422113.2	-	2	1043	c.717C>T	c.(715-717)tgC>tgT	p.C239C	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	239					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTCCCTGACGCAGTCCCCTC	0.647																																					p.C239C													TMEM132D,NS,carcinoma,0,1	TMEM132D	299	1	0			c.C717T												84.0	76.0	79.0					12																	130184606		2203	4300	6503	SO:0001819	synonymous_variant	121256	exon2			CCTGACGCAGTCC	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.717C>T	12.37:g.130184606G>A			110	0	0		86	0.05	4	NM_133448	10	0.30	3	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																					0.647	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399592.1		NM_133448	
TPTE2	93492	bcgsc.ca	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C	rs201542496		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000390680.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																					p.M41V													.	TPTE2	225		0			c.A121G												47.0	46.0	47.0					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492	exon5			CTAACATACTTTA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C			575	0.0104347826	6		459	0.03	15	NM_199254	3	0.00	0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG			0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_199254	Missense_Mutation
CBLN3	643866	broad.mit.edu	37	14	24898130	24898130	+	Missense_Mutation	SNP	T	T	C			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr14:24898130T>C	ENST00000267406.6	-	1	601	c.131A>G	c.(130-132)gAg>gGg	p.E44G	CBLN3_ENST00000555436.1_Intron|KHNYN_ENST00000553935.1_5'Flank|KHNYN_ENST00000556842.1_5'Flank|KHNYN_ENST00000251343.5_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	44						cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CACCAGGCACTCCCCCTCCAG	0.726																																					p.E44G													.	CBLN3	21		0			c.A131G												10.0	12.0	11.0					14																	24898130		2158	4214	6372	SO:0001583	missense	643866	exon1			AGGCACTCCCCCT	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.131A>G	14.37:g.24898130T>C	ENSP00000267406:p.Glu44Gly		134	0	0		140	0.04	5	NM_001039771	3	0.00	0		Missense_Mutation	SNP	ENST00000267406.6	37	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.670853	0.67814	.	.	ENSG00000139899	ENST00000267406	D	0.82893	-1.66	5.17	5.17	0.71159	.	0.000000	0.51477	D	0.000098	T	0.73179	0.3554	N	0.22421	0.69	0.80722	D	1	B	0.29571	0.249	B	0.28991	0.097	T	0.73238	-0.4046	10	0.51188	T	0.08	-21.5647	13.0115	0.58733	0.0:0.0:0.0:1.0	.	44	Q6UW01	CBLN3_HUMAN	G	44	ENSP00000267406:E44G	ENSP00000267406:E44G	E	-	2	0	CBLN3	23967970	0.999000	0.42202	0.978000	0.43139	0.837000	0.47467	5.285000	0.65633	2.165000	0.68154	0.460000	0.39030	GAG			0.726	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412943.1		XM_115232	
TXNDC16	57544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	52978069	52978069	+	Missense_Mutation	SNP	A	A	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr14:52978069A>T	ENST00000281741.4	-	9	1016	c.645T>A	c.(643-645)caT>caA	p.H215Q	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	215					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTAGTTTACAATGAAAAAAGT	0.338																																					p.H215Q													.	.			0			c.T645A												129.0	119.0	122.0					14																	52978069		2203	4300	6503	SO:0001583	missense	57544	exon9			TTTACAATGAAAA	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.645T>A	14.37:g.52978069A>T	ENSP00000281741:p.His215Gln		275	0	0		249	0.32	80	NM_020784	5	0.40	2	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889936	0.72524	.	.	ENSG00000087301	ENST00000281741	T	0.22336	1.96	5.13	1.11	0.20524	.	0.045515	0.85682	D	0.000000	T	0.33469	0.0864	M	0.66939	2.045	0.43214	D	0.995087	D;P	0.63880	0.993;0.838	P;B	0.60949	0.881;0.347	T	0.03608	-1.1020	10	0.41790	T	0.15	-44.7773	7.2696	0.26250	0.6628:0.0:0.3372:0.0	.	210;215	B7ZME4;Q9P2K2	.;TXD16_HUMAN	Q	215	ENSP00000281741:H215Q	ENSP00000281741:H215Q	H	-	3	2	TXNDC16	52047819	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	0.374000	0.20501	0.373000	0.24621	0.377000	0.23210	CAT			0.338	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411681.1		XM_051699	
TTC7B	145567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	91252656	91252656	+	Silent	SNP	A	A	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr14:91252656A>G	ENST00000328459.6	-	2	259	c.138T>C	c.(136-138)ctT>ctC	p.L46L	TTC7B_ENST00000357056.2_Silent_p.L46L	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	46										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCCCGAGGAGAAGCTCTGCCA	0.597																																					p.L46L													.	.			0			c.T138C												43.0	49.0	47.0					14																	91252656		2203	4300	6503	SO:0001819	synonymous_variant	145567	exon2			GAGGAGAAGCTCT	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.138T>C	14.37:g.91252656A>G			50	0	0		66	0.18	12	NM_001010854	39	0.15	6	Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	CCDS32140.1																																																																																					0.597	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000411364.2			
JAG2	3714	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	14	105609508	105609508	+	Splice_Site	SNP	C	C	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr14:105609508C>T	ENST00000331782.3	-	26	3645		c.e26-1		JAG2_ENST00000347004.2_Splice_Site	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2						auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACCAGCAGACCTGGGGACCGG	0.701																																					.													.	.			0			c.3242-1G>A												20.0	29.0	26.0					14																	105609508		2184	4275	6459	SO:0001630	splice_region_variant	3714	exon27			GCAGACCTGGGGA	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3242-1G>A	14.37:g.105609508C>T			14	0	0		23	0.48	11	NM_002226	42	0.79	33	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Splice_Site	SNP	ENST00000331782.3	37	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249445	0.59103	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4312	0.75102	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAG2	104680553	1.000000	0.71417	0.827000	0.32855	0.777000	0.43975	4.414000	0.59802	2.111000	0.64477	0.491000	0.48974	.			0.701	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276506.2			Intron
FAN1	22909	broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	31197594	31197594	+	Missense_Mutation	SNP	A	A	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr15:31197594A>G	ENST00000362065.4	+	2	1019	c.728A>G	c.(727-729)aAg>aGg	p.K243R	FAN1_ENST00000565466.1_Missense_Mutation_p.K243R|FAN1_ENST00000561594.1_Missense_Mutation_p.K243R|FAN1_ENST00000561607.1_Missense_Mutation_p.K243R	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	243					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GAAAGCCAAAAGGCTACCCGG	0.393								Direct reversal of damage																													p.K243R													.	FAN1	77		0			c.A728G												55.0	53.0	54.0					15																	31197594		2202	4300	6502	SO:0001583	missense	22909	exon2			GCCAAAAGGCTAC		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.728A>G	15.37:g.31197594A>G	ENSP00000354497:p.Lys243Arg		135	0	0		131	0.04	5	NM_001146095	73	0.00	0	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885448	0.33255	.	.	ENSG00000198690	ENST00000362065	T	0.48836	0.8	5.23	-0.702	0.11265	.	1.257330	0.05000	N	0.468890	T	0.40372	0.1114	M	0.62723	1.935	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.08055	0.001;0.003	T	0.15378	-1.0439	10	0.19590	T	0.45	-1.2624	3.8158	0.08815	0.4754:0.3327:0.0764:0.1154	.	243;243	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	R	243	ENSP00000354497:K243R	ENSP00000354497:K243R	K	+	2	0	FAN1	28984886	0.000000	0.05858	0.000000	0.03702	0.636000	0.38137	-0.068000	0.11561	0.013000	0.14918	0.482000	0.46254	AAG			0.393	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430740.1		NM_014967	
MAN2C1	4123	broad.mit.edu;mdanderson.org	37	15	75650586	75650586	+	Silent	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr15:75650586G>T	ENST00000267978.5	-	21	2549	c.2503C>A	c.(2503-2505)Cga>Aga	p.R835R	MAN2C1_ENST00000565683.1_Silent_p.R852R|MAN2C1_ENST00000563622.1_Silent_p.R736R|MAN2C1_ENST00000569482.1_Silent_p.R835R|RP11-817O13.6_ENST00000563660.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	835					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGGTAGGTCGCTGCAGGTGC	0.602																																					p.R852R													.	MAN2C1	76		0			c.C2554A												114.0	93.0	100.0					15																	75650586		2197	4294	6491	SO:0001819	synonymous_variant	4123	exon21			TAGGTCGCTGCAG	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2503C>A	15.37:g.75650586G>T			104	0	0		116	0.04	5	NM_001256494	57	0.00	0	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	CCDS32298.1																																																																																					0.602	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000419965.1			
MESDC1	59274	mdanderson.org	37	15	81295326	81295326	+	Silent	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr15:81295326G>T	ENST00000267984.2	+	1	2032	c.714G>T	c.(712-714)gcG>gcT	p.A238A		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	238										endometrium(1)|lung(2)	3						TGAAGGTGGCGCCCAGTGAGC	0.701																																					p.A238A													.	.			0			c.G714T												10.0	11.0	11.0					15																	81295326		2173	4249	6422	SO:0001819	synonymous_variant	59274	exon1			GGTGGCGCCCAGT	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.714G>T	15.37:g.81295326G>T			11	0	0		11	0.18	2	NM_022566	52	0.00	0		Silent	SNP	ENST00000267984.2	37	CCDS10316.1																																																																																					0.701	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000291390.1		NM_022566	
MEX3B	84206	mdanderson.org	37	15	82338001	82338001	+	Missense_Mutation	SNP	C	C	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr15:82338001C>T	ENST00000329713.4	-	1	481	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	MEX3B_ENST00000558133.1_Missense_Mutation_p.G16S|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	16					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ccgccgccgccgccgctgccg	0.746																																					p.G16S													.	.			0			c.G46A												3.0	4.0	4.0					15																	82338001		1597	3334	4931	SO:0001583	missense	84206	exon1			CGCCGCCGCCGCT	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.46G>A	15.37:g.82338001C>T	ENSP00000329918:p.Gly16Ser		25	0	0		21	0.14	3	NM_032246	15	0.00	0	Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617377	0.66672	.	.	ENSG00000183496	ENST00000329713	T	0.32023	1.47	3.33	3.33	0.38152	.	0.100665	0.38111	N	0.001819	T	0.38558	0.1045	L	0.36672	1.1	0.43103	D	0.994792	D	0.89917	1.0	D	0.65684	0.937	T	0.10683	-1.0619	10	0.38643	T	0.18	-13.8881	9.4123	0.38500	0.2127:0.7873:0.0:0.0	.	16	Q6ZN04	MEX3B_HUMAN	S	16	ENSP00000329918:G16S	ENSP00000329918:G16S	G	-	1	0	MEX3B	80125056	1.000000	0.71417	0.999000	0.59377	0.727000	0.41649	0.878000	0.28126	1.692000	0.51112	0.305000	0.20034	GGC			0.746	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000304000.1		XM_290645	
ATF7IP2	80063	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	10534303	10534303	+	Missense_Mutation	SNP	G	G	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:10534303G>A	ENST00000396560.2	+	6	1405	c.1178G>A	c.(1177-1179)aGt>aAt	p.S393N	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.S393N|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.S393N|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.S393N	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						ATGTTATCCAGTAATGGAGCC	0.299																																					p.S393N													.	.			0			c.G1178A												43.0	47.0	46.0					16																	10534303		2194	4298	6492	SO:0001583	missense	80063	exon6			TATCCAGTAATGG	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1178G>A	16.37:g.10534303G>A	ENSP00000379808:p.Ser393Asn		348	0	0		344	0.07	24	NM_024997	5	0.20	1	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	2.570	-0.299812	0.05532	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.62	-0.403	0.12400	.	0.910700	0.09397	N	0.807716	T	0.25680	0.0625	N	0.25647	0.755	0.09310	N	1	B;B	0.18013	0.025;0.01	B;B	0.19391	0.025;0.01	T	0.25082	-1.0142	10	0.40728	T	0.16	-0.9368	3.5441	0.07821	0.3824:0.1935:0.4241:0.0	.	393;393	Q5U623-2;Q5U623	.;MCAF2_HUMAN	N	393	ENSP00000379807:S393N;ENSP00000379808:S393N;ENSP00000348799:S393N;ENSP00000322811:S393N	ENSP00000322811:S393N	S	+	2	0	ATF7IP2	10441804	0.870000	0.30015	0.059000	0.19551	0.048000	0.14542	0.169000	0.16641	0.124000	0.18369	0.591000	0.81541	AGT			0.299	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251961.1		NM_024997	
NOMO1	23420	bcgsc.ca	37	16	14973920	14973920	+	Missense_Mutation	SNP	G	G	C			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:14973920G>C	ENST00000287667.7	+	24	2977	c.2806G>C	c.(2806-2808)Gag>Cag	p.E936Q		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	936						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GTTCCGGTTTGAGCCATCCTC	0.532																																					p.E936Q													.	NOMO1	60		0			c.G2806C												81.0	81.0	81.0					16																	14973920		1586	3257	4843	SO:0001583	missense	23420	exon24			CGGTTTGAGCCAT	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2806G>C	16.37:g.14973920G>C	ENSP00000287667:p.Glu936Gln		1119	0.0044682752	5		1181	0.25	300	NM_014287	103	0.19	20	P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.953592	0.73902	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04119	3.7	3.04	3.04	0.35103	Carbohydrate-binding-like fold (1);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.01800	-1.1271	10	0.38643	T	0.18	-30.3966	11.9498	0.52948	0.0:0.0:1.0:0.0	.	936	Q15155	NOMO1_HUMAN	Q	936;936;769	ENSP00000287667:E936Q	ENSP00000287667:E936Q	E	+	1	0	NOMO1	14881421	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.134000	0.94467	1.701000	0.51217	0.398000	0.26397	GAG			0.532	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207065.1			
SH2B1	25970	broad.mit.edu	37	16	28877475	28877475	+	Silent	SNP	A	A	C			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:28877475A>C	ENST00000322610.8	+	4	499	c.60A>C	c.(58-60)ccA>ccC	p.P20P	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000337120.5_Silent_p.P20P|SH2B1_ENST00000538342.1_Intron|RP11-22P6.2_ENST00000567731.1_RNA|SH2B1_ENST00000359285.5_Silent_p.P20P|SH2B1_ENST00000395532.4_Silent_p.P20P|SH2B1_ENST00000563674.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	20	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						cgctgcccccacccccgcccc	0.716																																					p.P20P													.	SH2B1	160		0			c.A60C												2.0	3.0	3.0					16																	28877475		1450	3071	4521	SO:0001819	synonymous_variant	25970	exon2			GCCCCCACCCCCG	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.60A>C	16.37:g.28877475A>C			51	0.0588235294	3		55	0.27	15	NM_001145796	12	0.00	0	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	CCDS53996.1																																																																																					0.716	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000432666.1		NM_015503	
CORO1A	11151	mdanderson.org	37	16	30198195	30198195	+	Missense_Mutation	SNP	T	T	C			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:30198195T>C	ENST00000219150.5	+	4	685	c.380T>C	c.(379-381)cTg>cCg	p.L127P	CORO1A_ENST00000565497.1_Missense_Mutation_p.L127P|RP11-455F5.5_ENST00000566144.1_RNA|RP11-455F5.5_ENST00000567153.1_RNA|CORO1A_ENST00000570045.1_Missense_Mutation_p.L127P|RP11-455F5.5_ENST00000568506.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	127					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GTCGTCACCCTGGAGGGCCAC	0.662																																					p.L127P													.	.			0			c.T380C												34.0	37.0	36.0					16																	30198195		2197	4299	6496	SO:0001583	missense	11151	exon5			TCACCCTGGAGGG	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.380T>C	16.37:g.30198195T>C	ENSP00000219150:p.Leu127Pro		39	0.0256410256	1		42	0.07	3	NM_001193333	166	0.00	0	B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.563723	0.86335	.	.	ENSG00000102879	ENST00000219150	T	0.68479	-0.33	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.078160	0.53938	D	0.000060	D	0.88097	0.6345	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.91635	0.999;0.95;0.998	D	0.92116	0.5700	10	0.87932	D	0	-11.9051	14.7245	0.69332	0.0:0.0:0.0:1.0	.	127;161;127	B4DJS1;Q59G88;P31146	.;.;COR1A_HUMAN	P	127	ENSP00000219150:L127P	ENSP00000219150:L127P	L	+	2	0	CORO1A	30105696	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.945000	0.87732	2.137000	0.66172	0.533000	0.62120	CTG			0.662	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255195.2		NM_007074	
TAF1C	9013	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	84212696	84212698	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	TGG	TGG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:84212696_84212698delTGG	ENST00000567759.1	-	14	2641_2643	c.2459_2461delCCA	c.(2458-2463)gccaag>gag	p.820_821AK>E	TAF1C_ENST00000541676.1_In_Frame_Del_p.727_728AK>E|TAF1C_ENST00000341690.6_In_Frame_Del_p.726_727AK>E|TAF1C_ENST00000566732.1_In_Frame_Del_p.794_795AK>E|TAF1C_ENST00000378541.4_In_Frame_Del_p.820_821AK>E|TAF1C_ENST00000570117.1_In_Frame_Del_p.488_489AK>E	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	820					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGTGGTAGCTTGGCCATGTAGTC	0.695																																					p.820_821del													.	TAF1C	60		0			c.2460_2462del																																									SO:0001651	inframe_deletion	9013	exon14			GTAGCTTGGCCAT	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2459_2461delCCA	16.37:g.84212696_84212698delTGG	ENSP00000455265:p.Ala820_Lys821delinsGlu		49	0	0		38	0.29	11	NM_005679	251	0.37	93	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	In_Frame_Del	DEL	ENST00000567759.1	37	CCDS32496.1																																																																																					0.695	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000433045.2		NM_139353	
CPNE7	27132	mdanderson.org	37	16	89655121	89655121	+	Silent	SNP	G	G	T	rs540204930		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr16:89655121G>T	ENST00000268720.5	+	12	1321	c.1191G>T	c.(1189-1191)cgG>cgT	p.R397R	CPNE7_ENST00000319518.8_Silent_p.R322R	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	397	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.		R -> Q (in dbSNP:rs28568523).		lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GAGACCCGCGGAACAGCTGCT	0.647																																					p.R397R													.	.			0			c.G1191T												132.0	99.0	110.0					16																	89655121		2198	4300	6498	SO:0001819	synonymous_variant	27132	exon12			CCCGCGGAACAGC	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1191G>T	16.37:g.89655121G>T			38	0	0		39	0.08	3	NM_014427	0		0		Silent	SNP	ENST00000268720.5	37	CCDS10980.1																																																																																					0.647	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000269929.2			
RTN4RL1	146760	mdanderson.org	37	17	1840603	1840603	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr17:1840603G>T	ENST00000331238.6	-	2	992	c.513C>A	c.(511-513)gaC>gaA	p.D171E		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GGTTGACCAGGTCCACGAAGA	0.632																																					p.D171E	GBM(68;949 1139 14865 32798 38342)												.	.			0			c.C513A												41.0	47.0	45.0					17																	1840603		2096	4217	6313	SO:0001583	missense	146760	exon2			GACCAGGTCCACG	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.513C>A	17.37:g.1840603G>T	ENSP00000330631:p.Asp171Glu		41	0	0		40	0.10	4	NM_178568	19	0.05	1		Missense_Mutation	SNP	ENST00000331238.6	37	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731380	0.69189	.	.	ENSG00000185924	ENST00000331238	T	0.02446	4.29	5.72	5.72	0.89469	.	0.000000	0.41605	D	0.000860	T	0.06781	0.0173	L	0.43598	1.365	0.45056	D	0.998074	P	0.49783	0.928	P	0.52109	0.69	T	0.07028	-1.0794	10	0.66056	D	0.02	.	12.8619	0.57918	0.0751:0.0:0.9249:0.0	.	171	Q86UN2	R4RL1_HUMAN	E	171	ENSP00000330631:D171E	ENSP00000330631:D171E	D	-	3	2	RTN4RL1	1787353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.516000	0.53436	2.717000	0.92951	0.644000	0.83932	GAC			0.632	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450155.2		NM_178568	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274.0	265.0	268.0					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		246	0.0325203252	8		171	0.12	21	NM_145301	64	0.50	32	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301	
TNRC6C	57690	mdanderson.org	37	17	76047438	76047438	+	Silent	SNP	C	C	T	rs541145487		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr17:76047438C>T	ENST00000588061.1	+	5	3022	c.2295C>T	c.(2293-2295)acC>acT	p.T765T	TNRC6C_ENST00000541771.1_Silent_p.T765T|TNRC6C_ENST00000335749.4_Silent_p.T765T|TNRC6C_ENST00000544502.1_Silent_p.T765T|TNRC6C_ENST00000301624.4_Silent_p.T765T|TNRC6C_ENST00000588847.1_Silent_p.T765T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	765	Sufficient for interaction with argonaute family proteins.|Thr-rich.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ccaccaccaccactaccacga	0.547													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14023	0.0		0.0	False		,,,				2504	0.0				p.T765T													.	.			0			c.C2295T												14.0	16.0	15.0					17																	76047438		1740	3495	5235	SO:0001819	synonymous_variant	57690	exon4			CACCACCACTACC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2295C>T	17.37:g.76047438C>T			58	0	0		42	0.07	3	NM_018996	52	0.00	0	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																					0.547	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000395947.1		NM_018996	
CEP131	22994	broad.mit.edu	37	17	79174197	79174197	+	Silent	SNP	G	G	T	rs138379046		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr17:79174197G>T	ENST00000269392.4	-	8	1085	c.838C>A	c.(838-840)Cgg>Agg	p.R280R	AZI1_ENST00000374782.3_Silent_p.R280R|AZI1_ENST00000570482.2_5'UTR|AZI1_ENST00000450824.2_Silent_p.R280R|AZI1_ENST00000575907.1_Silent_p.R280R|RP11-455O6.2_ENST00000571085.1_RNA	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		280	IQ.				cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACCTGGTGCCGGTACCAGCGC	0.667																																					p.R280R													.	AZI1	145		0			c.C838A												20.0	21.0	21.0					17																	79174197		2159	4259	6418	SO:0001819	synonymous_variant	22994	exon8			GGTGCCGGTACCA																												ENST00000269392.4:c.838C>A	17.37:g.79174197G>T			109	0	0		122	0.03	4	NM_014984	91	0.00	0	A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37																																																																																						0.667	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000256070.1			
FOXK2	3607	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	80478070	80478070	+	Missense_Mutation	SNP	G	G	C			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr17:80478070G>C	ENST00000335255.5	+	1	480	c.306G>C	c.(304-306)caG>caC	p.Q102H		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	102	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			cgcccgcgcagcccaggcccg	0.751																																					p.Q102H													.	.			0			c.G306C												2.0	3.0	3.0					17																	80478070		1524	3255	4779	SO:0001583	missense	3607	exon1			CGCGCAGCCCAGG	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.306G>C	17.37:g.80478070G>C	ENSP00000335677:p.Gln102His		45	0	0		130	0.22	29	NM_004514	31	0.16	5	A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	.	12.05	1.821365	0.32237	.	.	ENSG00000141568	ENST00000535184;ENST00000335255;ENST00000335241	D	0.93859	-3.3	3.49	3.49	0.39957	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	.	.	.	.	D	0.87087	0.6090	N	0.08118	0	0.26519	N	0.974457	P;P;P	0.48503	0.891;0.911;0.785	P;P;B	0.45377	0.466;0.478;0.366	T	0.80480	-0.1364	9	0.42905	T	0.14	.	12.9759	0.58537	0.0:0.0:1.0:0.0	.	102;102;102	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	H	98;102;102	ENSP00000335677:Q102H	ENSP00000334321:Q102H	Q	+	3	2	FOXK2	78071359	1.000000	0.71417	0.895000	0.35142	0.266000	0.26442	1.349000	0.33998	1.790000	0.52503	0.492000	0.49549	CAG			0.751	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000277099.2		NM_181430	
MEX3C	51320	mdanderson.org	37	18	48703101	48703101	+	5'Flank	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr18:48703101G>T	ENST00000591040.1	-	0	799							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CTTCCTCTGCGCTGAGTCTTC	0.493																																					p.R534S													.	.			0			c.C1600A												88.0	85.0	86.0					18																	48703101		2203	4300	6503	SO:0001631	upstream_gene_variant	51320	exon2			CTCTGCGCTGAGT	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693		18.37:g.48703101G>T	Exception_encountered		113	0	0		55	0.05	3	NM_016626	236	0.00	0	A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000591040.1	37		.	.	.	.	.	.	.	.	.	.	G	14.37	2.516261	0.44763	.	.	ENSG00000176624	ENST00000406189	T	0.37235	1.21	5.87	5.87	0.94306	.	0.567693	0.19847	N	0.104733	T	0.37320	0.0999	M	0.64997	1.995	0.36053	D	0.840901	P	0.44380	0.834	B	0.36418	0.224	T	0.47169	-0.9138	10	0.29301	T	0.29	-7.6253	18.9748	0.92731	0.0:0.0:1.0:0.0	.	534	Q5U5Q3	MEX3C_HUMAN	S	534	ENSP00000385610:R534S	ENSP00000385610:R534S	R	-	1	0	MEX3C	46957099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.838000	0.48199	2.779000	0.95612	0.655000	0.94253	CGC			0.493	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding		OTTHUMT00000449559.1		NM_016626	
DSEL	92126	mdanderson.org	37	18	65178556	65178556	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr18:65178556G>T	ENST00000310045.7	-	2	4793	c.3320C>A	c.(3319-3321)tCc>tAc	p.S1107Y	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1097					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGACAAGAGGGACACTGCATT	0.393																																					p.S1107Y													.	.			0			c.C3320A												58.0	55.0	56.0					18																	65178556		2203	4300	6503	SO:0001583	missense	92126	exon2			AAGAGGGACACTG	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3320C>A	18.37:g.65178556G>T	ENSP00000310565:p.Ser1107Tyr		28	0	0		8	0.25	2	NM_032160	4	0.00	0	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486298	0.44147	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.83914	-1.78	4.79	4.79	0.61399	Sulfotransferase domain (1);	0.251318	0.30302	U	0.009930	D	0.88112	0.6349	L	0.57536	1.79	0.30121	N	0.80567	D	0.56746	0.977	P	0.59288	0.855	D	0.85902	0.1435	10	0.54805	T	0.06	-9.314	18.2029	0.89844	0.0:0.0:1.0:0.0	.	1097	Q8IZU8	DSEL_HUMAN	Y	1107;1097	ENSP00000310565:S1107Y	ENSP00000310565:S1107Y	S	-	2	0	DSEL	63329536	1.000000	0.71417	0.170000	0.22879	0.597000	0.36814	5.776000	0.68924	2.356000	0.79943	0.563000	0.77884	TCC			0.393	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256221.1		NM_032160	
MIER2	54531	mdanderson.org	37	19	308655	308655	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:308655G>T	ENST00000264819.4	-	12	1130	c.1120C>A	c.(1120-1122)Cag>Aag	p.Q374K	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGGTCCTGGTCTGCGTCC	0.721																																					p.Q374K													.	.			0			c.C1120A												14.0	20.0	18.0					19																	308655		2196	4286	6482	SO:0001583	missense	54531	exon12			GGTCCTGGTCTGC	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1120C>A	19.37:g.308655G>T	ENSP00000264819:p.Gln374Lys		49	0	0		47	0.06	3	NM_017550	276	0.00	0	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190390	0.38707	.	.	ENSG00000105556	ENST00000264819	T	0.14022	2.54	3.38	2.22	0.28083	.	0.600779	0.13487	N	0.384259	T	0.05273	0.0140	N	0.03608	-0.345	0.25661	N	0.986002	B	0.30741	0.293	B	0.22386	0.039	T	0.25222	-1.0138	10	0.59425	D	0.04	-13.7144	7.2203	0.25983	0.0:0.0:0.7353:0.2647	.	374	Q8N344	MIER2_HUMAN	K	374	ENSP00000264819:Q374K	ENSP00000264819:Q374K	Q	-	1	0	MIER2	259655	1.000000	0.71417	0.996000	0.52242	0.842000	0.47809	2.621000	0.46418	1.865000	0.54081	0.462000	0.41574	CAG			0.721	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451784.1		XM_041843	
ZNF812	729648	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	9801772	9801772	+	Missense_Mutation	SNP	A	A	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:9801772A>T	ENST00000457674.2	-	5	925	c.407T>A	c.(406-408)cTt>cAt	p.L136H	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	136	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)			ovary(1)	1						AAATTTGGAAAGTTCCTGTCC	0.408																																					p.L136H													.	.			0			c.T407A																																									SO:0001583	missense	729648	exon6			TTGGAAAGTTCCT		CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.407T>A	19.37:g.9801772A>T	ENSP00000395629:p.Leu136His		96	0	0		141	0.34	48	NM_001199814	0		0		Missense_Mutation	SNP	ENST00000457674.2	37	CCDS54215.1	.	.	.	.	.	.	.	.	.	.	a	10.30	1.312144	0.23821	.	.	ENSG00000224689	ENST00000457674	T	0.06371	3.31	1.42	-2.83	0.05769	Krueppel-associated box (1);	.	.	.	.	T	0.08980	0.0222	N	0.20530	0.585	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	T	0.19582	-1.0301	9	0.72032	D	0.01	.	4.6575	0.12624	0.2512:0.2055:0.5433:0.0	.	136	P0C7V5	ZN812_HUMAN	H	136	ENSP00000395629:L136H	ENSP00000395629:L136H	L	-	2	0	ZNF812	9662772	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	-0.286000	0.08399	-1.188000	0.02705	0.164000	0.16699	CTT			0.408	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396726.1			
CACNA1A	773	bcgsc.ca	37	19	13443726	13443726	+	Silent	SNP	G	G	T	rs540579196		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:13443726G>T	ENST00000360228.5	-	9	1211	c.1212C>A	c.(1210-1212)ctC>ctA	p.L404L	CACNA1A_ENST00000573710.2_Silent_p.L404L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	404					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CATCCTCGGCGAGGATCACCT	0.572																																					p.L404L													.	CACNA1A	715		0			c.C1212A												69.0	69.0	69.0					19																	13443726		1918	4131	6049	SO:0001819	synonymous_variant	773	exon9			CTCGGCGAGGATC	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1212C>A	19.37:g.13443726G>T			41	0	0		48	0.08	4	NM_001127222	1	0.00	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																					0.572	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104062.2		NM_000068	
PODNL1	79883	mdanderson.org	37	19	14044048	14044048	+	Missense_Mutation	SNP	G	G	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:14044048G>A	ENST00000339560.5	-	8	1282	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	PODNL1_ENST00000254320.3_Missense_Mutation_p.R255W|PODNL1_ENST00000538371.2_Missense_Mutation_p.R335W|PODNL1_ENST00000538517.2_Missense_Mutation_p.R246W	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	337	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TGCAGGCCCCGCAGCGGCCGC	0.726																																					p.R337W													.	.			0			c.C1009T												3.0	5.0	4.0					19																	14044048		1927	3833	5760	SO:0001583	missense	79883	exon8			GGCCCCGCAGCGG	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1009C>T	19.37:g.14044048G>A	ENSP00000345175:p.Arg337Trp		16	0	0		10	0.20	2	NM_024825	3	0.00	0	B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003667	0.74932	.	.	ENSG00000132000	ENST00000538371;ENST00000538517;ENST00000339560;ENST00000545071;ENST00000254320	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.67	3.63	0.41609	.	0.180017	0.26684	N	0.023034	T	0.70185	0.3195	M	0.65320	2	0.30741	N	0.746138	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.982;0.973	T	0.70608	-0.4825	10	0.72032	D	0.01	.	9.9119	0.41411	0.0993:0.0:0.9007:0.0	.	335;255;246;337	F5H7F9;B7Z3M0;G3V1J6;Q6PEZ8	.;.;.;PONL1_HUMAN	W	335;246;337;187;255	ENSP00000442553:R335W;ENSP00000440080:R246W;ENSP00000345175:R337W;ENSP00000254320:R255W	ENSP00000254320:R255W	R	-	1	2	PODNL1	13905048	0.040000	0.19996	0.996000	0.52242	0.975000	0.68041	0.744000	0.26245	0.955000	0.37878	-0.234000	0.12200	CGG			0.726	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000457967.1		NM_024825	
SUGP2	10147	broad.mit.edu	37	19	19105286	19105286	+	Silent	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:19105286G>T	ENST00000601879.1	-	10	3435	c.3138C>A	c.(3136-3138)ccC>ccA	p.P1046P	AC004447.2_ENST00000594142.1_RNA|SUGP2_ENST00000452918.2_Silent_p.P1046P|SUGP2_ENST00000337018.6_Silent_p.P1046P|SUGP2_ENST00000600377.1_Silent_p.P1060P			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	1046	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCCTTCCGAGGGGGTTCCCC	0.567																																					p.P1046P													.	SUGP2	107		0			c.C3138A												151.0	136.0	141.0					19																	19105286		2203	4300	6503	SO:0001819	synonymous_variant	10147	exon10			TTCCGAGGGGGTT	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.3138C>A	19.37:g.19105286G>T			189	0	0		163	0.02	4	NM_014884	111	0.00	0	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	CCDS12392.1																																																																																					0.567	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464627.1		NM_001017392	
PAFAH1B3	5050	mdanderson.org	37	19	42806398	42806398	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:42806398G>T	ENST00000262890.3	-	1	325	c.64C>A	c.(64-66)Cgc>Agc	p.R22S	PRR19_ENST00000598490.1_5'UTR|PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.R22S|PRR19_ENST00000341747.3_5'UTR	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	22					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				GACATCCAGCGCCCGTCGCCC	0.667																																					p.R22S													.	.			0			c.C64A												29.0	25.0	26.0					19																	42806398		2201	4297	6498	SO:0001583	missense	5050	exon1			TCCAGCGCCCGTC	D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 1 subunit"""	603074	"""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)"", ""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"""			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.64C>A	19.37:g.42806398G>T	ENSP00000262890:p.Arg22Ser		62	0	0		50	0.06	3	NM_002573	435	0.01	3	Q53X88	Missense_Mutation	SNP	ENST00000262890.3	37	CCDS12602.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199034	0.79015	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.43688	0.94;0.94	5.48	4.45	0.53987	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.68484	-0.5396	10	0.48119	T	0.1	-20.2117	11.9732	0.53075	0.0844:0.0:0.9156:0.0	.	22	Q15102	PA1B3_HUMAN	S	22	ENSP00000444935:R22S;ENSP00000262890:R22S	ENSP00000262890:R22S	R	-	1	0	PAFAH1B3	47498238	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	5.583000	0.67484	1.318000	0.45170	-0.339000	0.08088	CGC			0.667	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463726.1		NM_002573	
CLASRP	11129	mdanderson.org	37	19	45567750	45567750	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:45567750G>T	ENST00000221455.3	+	13	1369	c.1271G>T	c.(1270-1272)cGc>cTc	p.R424L	CLASRP_ENST00000544944.2_Missense_Mutation_p.R424L|CLASRP_ENST00000391953.4_Missense_Mutation_p.R362L	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	424	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						tcctggtcccgctcccgctcc	0.756																																					p.R424L													.	.			0			c.G1271T												5.0	7.0	6.0					19																	45567750		1852	3586	5438	SO:0001583	missense	11129	exon13			GGTCCCGCTCCCG	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1271G>T	19.37:g.45567750G>T	ENSP00000221455:p.Arg424Leu		21	0	0		16	0.19	3	NM_007056	131	0.00	0	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755607	0.49362	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	4.52	4.52	0.55395	.	.	.	.	.	T	0.08582	0.0213	N	0.19112	0.55	0.43613	D	0.99598	D;P;P	0.56035	0.974;0.862;0.784	B;B;B	0.43445	0.42;0.28;0.145	T	0.25710	-1.0124	9	0.37606	T	0.19	-1.745	12.6473	0.56742	0.0:0.0:1.0:0.0	.	362;424;424	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	L	424;424;362;424	ENSP00000221455:R424L;ENSP00000375814:R424L;ENSP00000375815:R362L;ENSP00000438702:R424L	ENSP00000221455:R424L	R	+	2	0	CLASRP	50259590	0.956000	0.32656	0.963000	0.40424	0.925000	0.55904	2.310000	0.43708	2.354000	0.79902	0.655000	0.94253	CGC			0.756	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316749.1		NM_007056	
NKPD1	284353	mdanderson.org	37	19	45661943	45661943	+	5'UTR	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:45661943G>T	ENST00000438936.2	-	0	52				NKPD1_ENST00000317951.4_Silent_p.G169G			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1							integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAGTGAAGGAGCCACAGGCCG	0.706																																					p.G169G													.	.			0			c.C507A												6.0	10.0	9.0					19																	45661943		674	1563	2237	SO:0001623	5_prime_UTR_variant	284353	exon2			GAAGGAGCCACAG	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.-160C>A	19.37:g.45661943G>T			19	0	0		19	0.11	2	NM_198478	5	0.00	0	B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	ENST00000438936.2	37																																																																																						0.706	NKPD1-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000360950.2		NM_198478	
KLK10	5655	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	19	51518067	51518067	+	Missense_Mutation	SNP	G	G	T	rs370110864		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:51518067G>T	ENST00000309958.3	-	6	1038	c.820C>A	c.(820-822)Cgc>Agc	p.R274S	CTC-518B2.12_ENST00000596286.1_RNA|KLK10_ENST00000358789.3_Missense_Mutation_p.R274S|KLK10_ENST00000391805.1_Missense_Mutation_p.R274S|CTB-147C22.9_ENST00000594512.1_RNA	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	274	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGTTGGAGCGTATGACTTTA	0.537																																					p.R274S													KLK10,NS,carcinoma,+1,1	KLK10	1	1	0			c.C820A												150.0	135.0	140.0					19																	51518067		2203	4300	6503	SO:0001583	missense	5655	exon6			TGGAGCGTATGAC	AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"""Kallikreins"""	6358	protein-coding gene	gene with protein product		602673	"""kallikrein 10"""	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.820C>A	19.37:g.51518067G>T	ENSP00000311746:p.Arg274Ser		73	0	0		64	0.06	4	NM_145888	5	0.00	0	A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	CCDS12817.1	.	.	.	.	.	.	.	.	.	.	g	10.94	1.493091	0.26774	.	.	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.92911	-3.13;-3.13;-3.13	4.55	-0.8	0.10897	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	D	0.84804	0.5553	L	0.33093	0.98	0.09310	N	1	B	0.29988	0.264	B	0.25291	0.059	T	0.73701	-0.3900	9	0.48119	T	0.1	.	8.2428	0.31671	0.0:0.4134:0.3053:0.2813	.	274	O43240	KLK10_HUMAN	S	274	ENSP00000375681:R274S;ENSP00000311746:R274S;ENSP00000351640:R274S	ENSP00000311746:R274S	R	-	1	0	KLK10	56209879	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.237000	0.08990	0.100000	0.17581	-0.479000	0.04858	CGC			0.537	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464337.2		NM_002776	
LILRB3	11025	mdanderson.org	37	19	54724044	54724044	+	Silent	SNP	T	T	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr19:54724044T>A	ENST00000391750.1	-	8	1426	c.1290A>T	c.(1288-1290)acA>acT	p.T430T	LILRB3_ENST00000407860.2_Silent_p.T430T|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Silent_p.T430T|LILRB3_ENST00000424807.1_Silent_p.T430T|LILRB3_ENST00000346401.6_Intron|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000440558.2_Silent_p.T430T|LILRB3_ENST00000245620.9_Silent_p.T430T			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	430					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGCGGCCCTGTGGGTGGGA	0.697																																					p.T430T													.	.			0			c.A1290T												5.0	6.0	6.0					19																	54724044		1792	3192	4984	SO:0001819	synonymous_variant	11025	exon7			CGGCCCTGTGGGT	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1290A>T	19.37:g.54724044T>A			40	0	0		42	0.07	3	NM_006864	3	0.00	0	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																					0.697	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000142844.5		NM_006864	
RNASEH1	246243	bcgsc.ca;mdanderson.org	37	2	3605788	3605788	+	Silent	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:3605788G>T	ENST00000315212.3	-	1	418	c.63C>A	c.(61-63)ggC>ggA	p.G21G	AC108488.3_ENST00000438436.1_RNA|AC108488.3_ENST00000426725.1_RNA	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	21					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		ACCCGCGAGAGCCGCGGCGGC	0.697																																					p.G21G													.	RNASEH1	27		0			c.C63A												13.0	14.0	14.0					2																	3605788		2189	4281	6470	SO:0001819	synonymous_variant	246243	exon1			GCGAGAGCCGCGG	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.63C>A	2.37:g.3605788G>T			55	0	0		91	0.05	5	NM_002936	201	0.00	0	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	ENST00000315212.3	37	CCDS1647.1																																																																																					0.697	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206605.2			
WDR35	57539	ucsc.edu	37	2	20113319	20113319	+	Silent	SNP	T	T	C			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:20113319T>C	ENST00000345530.3	-	28	3661	c.3546A>G	c.(3544-3546)taA>taG	p.*1182*	WDR35_ENST00000281405.4_Silent_p.*1171*|WDR35_ENST00000416055.2_3'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	0					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATCATTCCTTTATCCCACTG	0.363																																					p.X1182X													.	WDR35	92		0			c.A3546G												126.0	122.0	123.0					2																	20113319		2203	4300	6503	SO:0001819	synonymous_variant	57539	exon28			ATTCCTTTATCCC	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3546A>G	2.37:g.20113319T>C			118	0	0		203	0.00	1	NM_001006657	24	0.29	7	B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	CCDS33152.1																																																																																					0.363	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000207472.2		NM_020779	
DPYSL5	56896	mdanderson.org	37	2	27150268	27150268	+	Missense_Mutation	SNP	G	G	T	rs144366814		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:27150268G>T	ENST00000288699.6	+	4	726	c.568G>T	c.(568-570)Gtc>Ttc	p.V190F	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V190F	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	190					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCGCCCGCGTCCATGCTGA	0.532																																					p.V190F													.	.			0			c.G568T												85.0	68.0	74.0					2																	27150268		2203	4300	6503	SO:0001583	missense	56896	exon4			GCCCGCGTCCATG	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.568G>T	2.37:g.27150268G>T	ENSP00000288699:p.Val190Phe		91	0	0		129	0.04	5	NM_020134	120	0.00	0	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339169	0.95783	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.91351	-2.83;-2.83	5.52	5.52	0.82312	Amidohydrolase 1 (1);	0.056905	0.64402	D	0.000001	D	0.95843	0.8647	M	0.85373	2.75	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	D	0.95570	0.8637	9	.	.	.	-36.6976	18.569	0.91128	0.0:0.0:1.0:0.0	.	190	Q9BPU6	DPYL5_HUMAN	F	190	ENSP00000288699:V190F;ENSP00000385549:V190F	.	V	+	1	0	DPYSL5	27003772	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	7.446000	0.80609	2.767000	0.95098	0.655000	0.94253	GTC			0.532	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214187.2		NM_020134	
HK2	3099	broad.mit.edu	37	2	75107420	75107420	+	Missense_Mutation	SNP	C	C	T	rs148796379	byFrequency	TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:75107420C>T	ENST00000290573.2	+	10	1894	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	HK2_ENST00000409174.1_Missense_Mutation_p.R404W	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	432	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TAAGACCGTGCGGCGGCTGGT	0.592																																					p.R432W													.	HK2	85		0			c.C1294T							C	TRP/ARG	0,4404		0,0,2202	160.0	180.0	173.0		1294	-0.9	0.9	2	dbSNP_134	173	1,8599	1.2+/-3.3	0,1,4299	no	missense	HK2	NM_000189.4	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	432/918	75107420	1,13003	2202	4300	6502	SO:0001583	missense	3099	exon10			ACCGTGCGGCGGC		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1294C>T	2.37:g.75107420C>T	ENSP00000290573:p.Arg432Trp		93	0	0		139	0.03	4	NM_000189	41	0.02	1	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472189	0.43942	0.0	1.16E-4	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97041	-4.22;-4.22	4.89	-0.896	0.10557	Hexokinase, C-terminal (1);	0.049777	0.85682	D	0.000000	D	0.96160	0.8748	M	0.86805	2.84	0.80722	D	1	B	0.15473	0.013	B	0.08055	0.003	D	0.91653	0.5336	10	0.56958	D	0.05	-19.21	13.8741	0.63643	0.6189:0.381:0.0:0.0	.	432	P52789	HXK2_HUMAN	W	432;432;404	ENSP00000290573:R432W;ENSP00000387140:R404W	ENSP00000290573:R432W	R	+	1	2	HK2	74960928	0.995000	0.38212	0.876000	0.34364	0.932000	0.56968	0.473000	0.22132	0.014000	0.14944	0.563000	0.77884	CGG			0.592	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252238.2		NM_000189	
LINC00152	112597	broad.mit.edu	37	2	87778085	87778086	+	lincRNA	INS	-	-	A	rs565207735	byFrequency	TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:87778085_87778086insA	ENST00000409054.1	+	0	278				RP11-1399P15.1_ENST00000608142.1_RNA	NR_015395.1				long intergenic non-protein coding RNA 152																		actctatctataaaaaaaaata	0.525																																					.													.	.			0			.																																											0	.			TATCTATAAAAAA	BC009508		2p11.2	2014-02-14	2011-08-11	2011-08-11	ENSG00000222041	ENSG00000222041		"""Long non-coding RNAs"""	28717	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 59"", ""non-protein coding RNA 152"""	C2orf59, NCRNA00152		24523021, 23801869, 22689435, 24036268	Standard	NR_024204		Approved	MGC4677	uc002ssk.4		OTTHUMG00000130273		2.37:g.87778094_87778094dupA			6	0	0		8	0.25	2	.	0		0		RNA	INS	ENST00000409054.1	37																																																																																						0.525	LINC00152-005	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000330387.3		XR_042051	
DPP4	1803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	162865128	162865128	+	Missense_Mutation	SNP	C	C	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:162865128C>T	ENST00000360534.3	-	22	2491	c.1931G>A	c.(1930-1932)aGt>aAt	p.S644N	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	644					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GAACACGCCACTTCCCGATCC	0.463																																					p.S644N													.	.			0			c.G1931A												102.0	89.0	94.0					2																	162865128		2203	4300	6503	SO:0001583	missense	1803	exon22			ACGCCACTTCCCG	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1931G>A	2.37:g.162865128C>T	ENSP00000353731:p.Ser644Asn		82	0	0		123	0.15	18	NM_001935	3	0.00	0	Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802984	0.90623	.	.	ENSG00000197635	ENST00000360534	T	0.30981	1.51	5.84	5.84	0.93424	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.081102	0.85682	N	0.000000	T	0.45538	0.1347	L	0.41632	1.29	0.53688	D	0.999975	D	0.57571	0.98	P	0.57776	0.827	T	0.20306	-1.0279	10	0.54805	T	0.06	-18.3225	20.1346	0.98019	0.0:1.0:0.0:0.0	.	644	P27487	DPP4_HUMAN	N	644	ENSP00000353731:S644N	ENSP00000353731:S644N	S	-	2	0	DPP4	162573374	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.144000	0.58057	2.765000	0.95021	0.655000	0.94253	AGT			0.463	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255079.2			
DUSP19	142679	mdanderson.org	37	2	183960356	183960356	+	Missense_Mutation	SNP	G	G	T	rs534821816		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:183960356G>T	ENST00000354221.4	+	4	799	c.624G>T	c.(622-624)aaG>aaT	p.K208N	AC064871.3_ENST00000413954.1_RNA|AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Missense_Mutation_p.K157N	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	208					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AAAGCAATAAGTGTGACAGAA	0.393																																					p.K208N													.	.			0			c.G624T												102.0	99.0	100.0					2																	183960356		2203	4300	6503	SO:0001583	missense	142679	exon4			CAATAAGTGTGAC	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.624G>T	2.37:g.183960356G>T	ENSP00000346160:p.Lys208Asn		77	0	0		89	0.04	4	NM_080876	16	0.00	0	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450652	0.43531	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	T;T	0.14893	2.47;3.69	5.48	1.6	0.23607	.	1.039210	0.07659	N	0.933385	T	0.09642	0.0237	N	0.21282	0.65	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.41124	-0.9526	10	0.23302	T	0.38	.	1.4119	0.02293	0.2439:0.12:0.4551:0.181	.	157;208	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	N	157;208	ENSP00000343905:K157N;ENSP00000346160:K208N	ENSP00000343905:K157N	K	+	3	2	DUSP19	183668601	0.000000	0.05858	0.002000	0.10522	0.859000	0.49053	0.248000	0.18198	0.078000	0.16900	-0.291000	0.09656	AAG			0.393	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255866.1			
TTLL4	9654	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	219603651	219603651	+	Missense_Mutation	SNP	C	C	T	rs200872563		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:219603651C>T	ENST00000392102.1	+	3	1592	c.1252C>T	c.(1252-1254)Cgt>Tgt	p.R418C	TTLL4_ENST00000258398.4_Missense_Mutation_p.R418C|TTLL4_ENST00000457313.1_Missense_Mutation_p.R253C|TTLL4_ENST00000442769.1_Missense_Mutation_p.R418C	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	418			R -> H (in dbSNP:rs2114664).		protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTGTACCAAGCGTATCAGCAT	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		19958	0.001		0.0	False		,,,				2504	0.0				p.R418C	GBM(172;1818 2053 15407 20943 49753)												.	.			0			c.C1252T												129.0	125.0	126.0					2																	219603651		2203	4300	6503	SO:0001583	missense	9654	exon3			ACCAAGCGTATCA		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1252C>T	2.37:g.219603651C>T	ENSP00000375951:p.Arg418Cys		99	0	0		147	0.04	6	NM_014640	149	0.07	10	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.94	3.260444	0.59431	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.14022	3.07;3.26;2.54;3.26	4.54	3.62	0.41486	.	0.475716	0.19742	N	0.107085	T	0.24005	0.0581	L	0.34521	1.04	0.38888	D	0.957045	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.74023	0.972;0.84;0.982	T	0.02805	-1.1108	10	0.87932	D	0	.	10.3029	0.43663	0.2468:0.7532:0.0:0.0	.	253;418;418	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	C	253;418;418;418	ENSP00000393332:R253C;ENSP00000375951:R418C;ENSP00000396555:R418C;ENSP00000258398:R418C	ENSP00000258398:R418C	R	+	1	0	TTLL4	219311895	0.526000	0.26298	0.998000	0.56505	0.985000	0.73830	1.533000	0.36040	1.030000	0.39839	0.462000	0.41574	CGT	0		0.522	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256726.1		NM_014640	
CUL3	8452	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	225370731	225370731	+	Missense_Mutation	SNP	C	C	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:225370731C>A	ENST00000264414.4	-	8	1486	c.1148G>T	c.(1147-1149)aGg>aTg	p.R383M	CUL3_ENST00000344951.4_Missense_Mutation_p.R317M|CUL3_ENST00000409777.1_Missense_Mutation_p.R359M|CUL3_ENST00000409096.1_Missense_Mutation_p.R359M	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	383					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCAGGAGACCTGGAGTTGAG	0.358																																					p.R389M													.	.			0			c.G1166T												78.0	76.0	77.0					2																	225370731		2203	4300	6503	SO:0001583	missense	8452	exon8			GGAGACCTGGAGT	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1148G>T	2.37:g.225370731C>A	ENSP00000264414:p.Arg383Met		241	0	0		329	0.42	138	NM_001257198	192	0.46	89	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703775	0.88924	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.63	5.63	0.86233	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	M	0.85041	2.73	0.80722	D	1	D;D;D	0.61080	0.989;0.97;0.97	P;P;P	0.57776	0.735;0.827;0.827	D	0.87981	0.2743	10	0.87932	D	0	.	20.0529	0.97634	0.0:1.0:0.0:0.0	.	317;361;383	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	M	383;317;359;359	ENSP00000264414:R383M;ENSP00000343601:R317M;ENSP00000387200:R359M;ENSP00000386525:R359M	ENSP00000264414:R383M	R	-	2	0	CUL3	225078975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.701000	0.68325	2.814000	0.96858	0.591000	0.81541	AGG			0.358	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256871.2			
IQCA1	79781	broad.mit.edu	37	2	237327853	237327855	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr2:237327853_237327855delTTC	ENST00000409907.3	-	8	1345_1347	c.1071_1073delGAA	c.(1069-1074)aagaaa>aaa	p.357_358KK>K	IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_In_Frame_Del_p.353_354KK>K|IQCA1_ENST00000431676.2_Intron	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	357	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						Tttttcctttttcttcttcttct	0.281																																					p.364_365del													.	IQCA1	170		0			c.1092_1094del																																									SO:0001651	inframe_deletion	79781	exon8			TCCTTTTTCTTCT	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1071_1073delGAA	2.37:g.237327862_237327864delTTC	ENSP00000387347:p.Lys359del		619	0	0		785	0.01	7	NM_001270585	4	0.00	0	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	In_Frame_Del	DEL	ENST00000409907.3	37	CCDS46549.1																																																																																					0.281	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000329266.1		NM_024726	
GATSL3	652968	mdanderson.org	37	22	30685382	30685382	+	Silent	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr22:30685382G>T	ENST00000407689.3	-	1	234	c.105C>A	c.(103-105)cgC>cgA	p.R35R	RP1-130H16.18_ENST00000447976.1_Intron|GATSL3_ENST00000404953.3_Silent_p.R35R|GATSL3_ENST00000459785.1_5'Flank	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	35										breast(1)|endometrium(1)|lung(1)	3						ACCGGCTGCGGCGGGGCAGGA	0.692																																					p.R35R													.	.			0			c.C105A												8.0	12.0	11.0					22																	30685382		1596	3726	5322	SO:0001819	synonymous_variant	652968	exon1			GCTGCGGCGGGGC		CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.105C>A	22.37:g.30685382G>T			20	0	0		36	0.08	3	NM_001037666	35	0.00	0	O76052|Q96ND9|Q9UIE8	Silent	SNP	ENST00000407689.3	37	CCDS43001.1																																																																																					0.692	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320581.2		NM_001037666	
ELFN2	114794	mdanderson.org	37	22	37770851	37770851	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr22:37770851G>T	ENST00000402918.2	-	3	1509	c.724C>A	c.(724-726)Cag>Aag	p.Q242K	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	242	LRRCT.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CACTTGGCCTGGAGTACGGTG	0.687																																					p.Q242K													.	.			0			c.C724A												35.0	45.0	42.0					22																	37770851		2203	4299	6502	SO:0001583	missense	114794	exon3			TGGCCTGGAGTAC	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.724C>A	22.37:g.37770851G>T	ENSP00000385277:p.Gln242Lys		30	0	0		43	0.07	3	NM_052906	8	0.00	0	Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440559	0.25900	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.49432	0.78;0.78	4.96	4.96	0.65561	.	0.268386	0.37530	N	0.002060	T	0.42877	0.1222	L	0.53249	1.67	0.41181	D	0.986231	B	0.06786	0.001	B	0.06405	0.002	T	0.28459	-1.0043	10	0.22706	T	0.39	-24.7295	14.342	0.66633	0.0:0.0:0.8512:0.1488	.	242	Q5R3F8	PPR29_HUMAN	K	242	ENSP00000300147:Q242K;ENSP00000385277:Q242K	ENSP00000300147:Q242K	Q	-	1	0	ELFN2	36100797	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.304000	0.59104	2.468000	0.83385	0.609000	0.83330	CAG			0.687	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318900.2		NM_052906	
FBLN1	2192	hgsc.bcm.edu;broad.mit.edu	37	22	45928977	45928977	+	Silent	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr22:45928977G>T	ENST00000327858.6	+	6	674	c.579G>T	c.(577-579)acG>acT	p.T193T	FBLN1_ENST00000262722.7_Silent_p.T193T|FBLN1_ENST00000340923.5_Silent_p.T193T|FBLN1_ENST00000442170.2_Silent_p.T193T|FBLN1_ENST00000348697.2_Silent_p.T193T|FBLN1_ENST00000402984.3_Silent_p.T231T	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	193	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCCGAGACACGGGTGACGAGG	0.627																																					p.T193T													.	.			0			c.G579T												147.0	98.0	115.0					22																	45928977		2203	4300	6503	SO:0001819	synonymous_variant	2192	exon6			AGACACGGGTGAC		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.579G>T	22.37:g.45928977G>T			108	0	0		113	0.05	6	NM_006487	1125	0.00	0	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																					0.627	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000322287.1		NM_006486	
TUBGCP6	85378	broad.mit.edu	37	22	50656423	50656423	+	Silent	SNP	A	A	C			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr22:50656423A>C	ENST00000248846.5	-	24	5396	c.5292T>G	c.(5290-5292)ggT>ggG	p.G1764G	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1764					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGTGCTCTGCACCCCGCGGGC	0.617																																					p.G1764G													.	TUBGCP6	132		0			c.T5292G												22.0	29.0	27.0					22																	50656423		2163	4221	6384	SO:0001819	synonymous_variant	85378	exon24			CTCTGCACCCCGC	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5292T>G	22.37:g.50656423A>C			55	0.1454545455	8		44	0.30	13	NM_020461	72	0.18	13	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	CCDS14087.1																																																																																					0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075004.3		NM_020461	
TATDN2	9797	mdanderson.org	37	3	10318068	10318068	+	Silent	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:10318068G>T	ENST00000287652.4	+	5	2908	c.1857G>T	c.(1855-1857)ctG>ctT	p.L619L	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000496355.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.L619L	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	619					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGCTGCAGCTGGCTGTGTCTC	0.507																																					p.L619L													.	.			0			c.G1857T												106.0	108.0	107.0					3																	10318068		2203	4300	6503	SO:0001819	synonymous_variant	9797	exon5			GCAGCTGGCTGTG	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1857G>T	3.37:g.10318068G>T			48	0	0		49	0.06	3	NM_014760	78	0.00	0	Q3MIL9|Q5BKU0	Silent	SNP	ENST00000287652.4	37	CCDS33698.1																																																																																					0.507	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339641.1		XM_376203	
ZNF619	285267	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	40519494	40519494	+	5'UTR	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:40519494G>T	ENST00000314686.5	+	0	331				ZNF619_ENST00000456778.1_Splice_Site_p.A16S|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Splice_Site_p.Q8H|ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000447116.2_Splice_Site_p.Q8H|ZNF619_ENST00000521353.1_Splice_Site_p.Q8H|ZNF619_ENST00000429348.2_Splice_Site_p.Q8H			Q8N2I2	ZN619_HUMAN	zinc finger protein 619						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTGGTTCCAGGTGAGCAGAG	0.498																																					p.A16S													.	.			0			c.G46T												146.0	127.0	133.0					3																	40519494		692	1591	2283	SO:0001623	5_prime_UTR_variant	285267	exon2			GTTCCAGGTGAGC	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.-75G>T	3.37:g.40519494G>T			106	0	0		90	0.06	5	NM_001145083	0		0	B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.370|8.370	0.835010|0.835010	0.16820|0.16820	.|.	.|.	ENSG00000177873|ENSG00000177873	ENST00000456778|ENST00000447116;ENST00000429348;ENST00000521353;ENST00000432264	T|T;T;T;T	0.06449|0.05925	3.3|3.37;3.56;3.37;3.56	2.52|2.52	2.52|2.52	0.30459|0.30459	.|.	.|.	.|.	.|.	.|.	T|T	0.17408|0.17408	0.0418|0.0418	.|.	.|.	.|.	0.29095|0.29095	N|N	0.881837|0.881837	P|D;D	0.39022|0.58970	0.655|0.984;0.984	B|D;D	0.22601|0.74674	0.04|0.984;0.984	T|T	0.01899|0.01899	-1.1251|-1.1251	8|8	0.87932|0.41790	D|T	0|0.15	.|.	8.6515|8.6515	0.34038|0.34038	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	16|8;8	B4E271|C9JRN5;E9PCD9	.|.;.	S|H	16|8	ENSP00000397232:A16S|ENSP00000411132:Q8H;ENSP00000398024:Q8H;ENSP00000430705:Q8H;ENSP00000388710:Q8H	ENSP00000397232:A16S|ENSP00000398024:Q8H	A|Q	+|+	1|3	0|2	ZNF619|ZNF619	40494498|40494498	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.093000|0.093000	0.18481|0.18481	3.244000|3.244000	0.51399|0.51399	1.715000|1.715000	0.51383|0.51383	0.491000|0.491000	0.48974|0.48974	GCA|CAG			0.498	ZNF619-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000254180.2		NM_173656	
ABTB1	80325	mdanderson.org	37	3	127396684	127396684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:127396684G>T	ENST00000232744.8	+	10	1113	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	ABTB1_ENST00000393363.3_Nonsense_Mutation_p.E201*|ABTB1_ENST00000468137.1_Nonsense_Mutation_p.E201*|ABTB1_ENST00000453791.2_Nonsense_Mutation_p.E201*					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CGACCACACTGAGGTGGGGGC	0.667																																					p.E343X													.	.			0			c.G1027T												29.0	29.0	29.0					3																	127396684		2203	4300	6503	SO:0001587	stop_gained	80325	exon10			CACACTGAGGTGG	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1027G>T	3.37:g.127396684G>T	ENSP00000232744:p.Glu343*		34	0	0		45	0.07	3	NM_172027	72	0.00	0		Nonsense_Mutation	SNP	ENST00000232744.8	37	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	G	41	8.970198	0.99021	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	.	.	.	5.17	5.17	0.71159	.	0.102616	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-6.0473	18.6737	0.91521	0.0:0.0:1.0:0.0	.	.	.	.	X	179;201;343;201;201	.	ENSP00000232744:E343X	E	+	1	0	ABTB1	128879374	1.000000	0.71417	0.953000	0.39169	0.978000	0.69477	6.273000	0.72581	2.394000	0.81467	0.591000	0.81541	GAG			0.667	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356595.1		NM_172027	
DNAJC13	23317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	132224196	132224196	+	Missense_Mutation	SNP	C	C	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:132224196C>G	ENST00000260818.6	+	42	5183	c.4935C>G	c.(4933-4935)aaC>aaG	p.N1645K		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1645					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGATATGGAACAATTCTACAA	0.269																																					p.N1645K													.	.			0			c.C4935G												49.0	50.0	50.0					3																	132224196		2202	4287	6489	SO:0001583	missense	23317	exon42			ATGGAACAATTCT	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4935C>G	3.37:g.132224196C>G	ENSP00000260818:p.Asn1645Lys		580	0	0		534	0.41	219	NM_015268	133	0.42	56	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.219040	0.58560	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.23147	1.92	6.16	4.17	0.49024	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	M	0.71206	2.165	0.49915	D	0.999834	B	0.26445	0.149	B	0.25140	0.058	T	0.18085	-1.0348	10	0.72032	D	0.01	.	12.0967	0.53758	0.0:0.8218:0.0:0.1782	.	1645	O75165	DJC13_HUMAN	K	1645;292	ENSP00000260818:N1645K	ENSP00000260818:N1645K	N	+	3	2	DNAJC13	133706886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.794000	0.26958	1.629000	0.50426	0.650000	0.86243	AAC			0.269	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356807.2		NM_015268	
PRR23A	729627	broad.mit.edu	37	3	138724758	138724758	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:138724758G>T	ENST00000383163.2	-	1	352	c.353C>A	c.(352-354)tCg>tAg	p.S118*	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	118										endometrium(3)|kidney(1)|lung(7)	11						CCCAGCAGACGAGTCGTCCTG	0.612																																					p.S118X													PRR23A,NS,carcinoma,+1,1	PRR23A	35	1	0			c.C353A												37.0	35.0	35.0					3																	138724758		692	1591	2283	SO:0001587	stop_gained	729627	exon1			GCAGACGAGTCGT		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.353C>A	3.37:g.138724758G>T	ENSP00000372649:p.Ser118*		219	0	0		215	0.02	5	NM_001134659	29	0.00	0		Nonsense_Mutation	SNP	ENST00000383163.2	37	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636811	0.47049	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.75	-0.421	0.12332	.	2.599750	0.01665	N	0.025311	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	3.3247	0.07062	0.2772:0.2199:0.5029:0.0	.	.	.	.	X	118	.	ENSP00000372649:S118X	S	-	2	0	PRR23A	140207448	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.289000	0.18957	-0.094000	0.12374	0.484000	0.47621	TCG			0.612	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361503.1		NM_001134659	
NAALADL2	254827	mdanderson.org	37	3	175473106	175473106	+	Missense_Mutation	SNP	C	C	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr3:175473106C>A	ENST00000454872.1	+	13	2217	c.2089C>A	c.(2089-2091)Ccc>Acc	p.P697T		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	697						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGCTAATGATCCCAAGGAGAG	0.493																																					p.P697T													.	.			0			c.C2089A												84.0	82.0	83.0					3																	175473106		1971	4155	6126	SO:0001583	missense	254827	exon13			AATGATCCCAAGG		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2089C>A	3.37:g.175473106C>A	ENSP00000404705:p.Pro697Thr		76	0	0		63	0.06	4	NM_207015	0		0	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524096	0.64747	.	.	ENSG00000177694	ENST00000454872	T	0.32272	1.46	5.71	5.71	0.89125	Transferrin receptor-like, dimerisation domain (2);	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	L	0.32530	0.975	0.51767	D	0.999932	D	0.89917	1.0	D	0.85130	0.997	T	0.09796	-1.0658	10	0.12766	T	0.61	-10.9565	19.8494	0.96733	0.0:1.0:0.0:0.0	.	697	Q58DX5	NADL2_HUMAN	T	697	ENSP00000404705:P697T	ENSP00000404705:P697T	P	+	1	0	NAALADL2	176955800	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	7.223000	0.78033	2.694000	0.91930	0.591000	0.81541	CCC			0.493	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347390.2		NM_207015	
FGFR3	2261	mdanderson.org	37	4	1803151	1803151	+	Missense_Mutation	SNP	C	C	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr4:1803151C>T	ENST00000260795.2	+	4	605	c.503C>T	c.(502-504)gCc>gTc	p.A168V	FGFR3_ENST00000481110.2_Missense_Mutation_p.A168V|FGFR3_ENST00000440486.2_Missense_Mutation_p.A168V|FGFR3_ENST00000352904.1_Missense_Mutation_p.A168V|FGFR3_ENST00000412135.2_Missense_Mutation_p.A168V|FGFR3_ENST00000340107.4_Missense_Mutation_p.A168V			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	168	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GCCGTGCCGGCCGCCAACACC	0.692		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																												p.A168V				Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"""L, E"""	.	.			0			c.C503T												6.0	6.0	6.0					4																	1803151		2043	4009	6052	SO:0001583	missense	2261	exon5	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	TGCCGGCCGCCAA	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.503C>T	4.37:g.1803151C>T	ENSP00000260795:p.Ala168Val		60	0	0		20	0.15	3	NM_022965	438	0.00	0	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	14.52	2.559725	0.45590	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	3.67	2.8	0.32819	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058951	0.64402	D	0.000003	T	0.70037	0.3178	L	0.41710	1.295	0.28676	N	0.905396	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.985;0.999	D;D;D;D;D;P	0.91635	0.999;0.994;0.995;0.999;0.913;0.637	T	0.66544	-0.5897	10	0.72032	D	0.01	.	13.0568	0.58984	0.0:0.8364:0.1636:0.0	.	131;168;168;168;168;168	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	V	168	ENSP00000420533:A168V;ENSP00000339824:A168V;ENSP00000414914:A168V;ENSP00000412903:A168V;ENSP00000260795:A168V;ENSP00000231803:A168V	ENSP00000260795:A168V	A	+	2	0	FGFR3	1772949	1.000000	0.71417	0.780000	0.31762	0.771000	0.43674	7.397000	0.79903	0.623000	0.30267	0.436000	0.28706	GCC			0.692	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000241632.2		NM_000142	
QRFPR	84109	broad.mit.edu	37	4	122261656	122261656	+	Silent	SNP	A	A	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr4:122261656A>G	ENST00000394427.2	-	2	861	c.450T>C	c.(448-450)ccT>ccC	p.P150P	QRFPR_ENST00000334383.5_Silent_p.P150P	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	150					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TCATTTTAAAAGGATGCACAA	0.468																																					p.P150P													.	QRFPR	65		0			c.T450C												133.0	115.0	121.0					4																	122261656		2203	4300	6503	SO:0001819	synonymous_variant	84109	exon2			TTTAAAAGGATGC	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.450T>C	4.37:g.122261656A>G			121	0	0		79	0.04	3	NM_198179	3	0.00	0		Silent	SNP	ENST00000394427.2	37	CCDS3719.1																																																																																					0.468	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256641.2		NM_198179	
FBN2	2201	broad.mit.edu	37	5	127648441	127648441	+	Silent	SNP	A	A	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:127648441A>G	ENST00000508053.1	-	43	5738	c.4764T>C	c.(4762-4764)gaT>gaC	p.D1588D	FBN2_ENST00000262464.4_Silent_p.D1588D			P35556	FBN2_HUMAN	fibrillin 2	1588	TB 6.				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)		ACAGACTCCCATCTCCTCGAG	0.557																																					p.D1588D													.	FBN2	858		0			c.T4764C												227.0	226.0	227.0					5																	127648441		2203	4300	6503	SO:0001819	synonymous_variant	2201	exon37			ACTCCCATCTCCT	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.4764T>C	5.37:g.127648441A>G			150	0	0		105	0.03	3	NM_001999	0		0	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																					0.557	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000371618.2		NM_001999	
PURA	5813	mdanderson.org	37	5	139494333	139494333	+	Silent	SNP	G	G	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:139494333G>A	ENST00000331327.3	+	1	626	c.567G>A	c.(565-567)gcG>gcA	p.A189A		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	189					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCATTGCGCTGCCCGCGC	0.687																																					p.A189A													PURA,NS,carcinoma,+1,1	PURA	1	1	0			c.G567A												21.0	24.0	23.0					5																	139494333		2201	4297	6498	SO:0001819	synonymous_variant	5813	exon1			CATTGCGCTGCCC	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.567G>A	5.37:g.139494333G>A			64	0	0		35	0.09	3	NM_005859	35	0.00	0		Silent	SNP	ENST00000331327.3	37	CCDS4220.1																																																																																					0.687	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251341.3		NM_005859	
SLC4A9	83697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	139741434	139741434	+	Missense_Mutation	SNP	C	C	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:139741434C>A	ENST00000230993.6	+	4	654	c.619C>A	c.(619-621)Ccc>Acc	p.P207T	SLC4A9_ENST00000506545.1_Missense_Mutation_p.P183T|SLC4A9_ENST00000506757.2_Missense_Mutation_p.P183T|SLC4A9_ENST00000507527.1_Missense_Mutation_p.P207T|SLC4A9_ENST00000432095.2_Missense_Mutation_p.P183T	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	207					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGAAGCCCCCCTGAGGGA	0.507																																					p.P207T													.	.			0			c.C619A												128.0	124.0	125.0					5																	139741434		1841	4084	5925	SO:0001583	missense	83697	exon4			GAAGCCCCCCTGA	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.619C>A	5.37:g.139741434C>A	ENSP00000230993:p.Pro207Thr		288	0	0		167	0.13	22	NM_001258428	0		0	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774694	0.49786	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.63	3.74	0.42951	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	1.265650	0.05588	N	0.574141	T	0.75576	0.3868	M	0.76328	2.33	0.09310	N	1	D;P;P;P	0.57257	0.979;0.901;0.879;0.879	P;P;P;P	0.62491	0.903;0.743;0.504;0.504	T	0.53012	-0.8498	10	0.52906	T	0.07	.	5.5766	0.17227	0.1979:0.7024:0.0:0.0997	.	183;207;183;183	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	T	207;183;183;183;207	ENSP00000230993:P207T;ENSP00000424424:P183T;ENSP00000410056:P183T;ENSP00000422855:P183T;ENSP00000427661:P207T	ENSP00000230993:P207T	P	+	1	0	SLC4A9	139721618	0.000000	0.05858	0.002000	0.10522	0.353000	0.29299	0.494000	0.22467	1.136000	0.42199	0.655000	0.94253	CCC			0.507	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000372823.1		NM_031467	
GALNT10	55568	mdanderson.org	37	5	153709200	153709200	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:153709200G>T	ENST00000297107.6	+	4	607	c.470G>T	c.(469-471)gGc>gTc	p.G157V	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.G157V|GALNT10_ENST00000377661.2_Missense_Mutation_p.G157V	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	157	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CACAACGAGGGCTGGTCCTCC	0.577																																					p.G157V													.	.			0			c.G470T												191.0	138.0	156.0					5																	153709200		2203	4300	6503	SO:0001583	missense	55568	exon4			ACGAGGGCTGGTC	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.470G>T	5.37:g.153709200G>T	ENSP00000297107:p.Gly157Val		129	0	0		80	0.05	4	NM_198321	13	0.00	0	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958789	0.92726	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59772	0.24;0.24;0.24	5.28	5.28	0.74379	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.75806	-0.3188	10	0.54805	T	0.06	.	18.9027	0.92449	0.0:0.0:1.0:0.0	.	157;157;157	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	V	157	ENSP00000415210:G157V;ENSP00000297107:G157V;ENSP00000366889:G157V	ENSP00000297107:G157V	G	+	2	0	GALNT10	153689393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.472000	0.97709	2.465000	0.83290	0.655000	0.94253	GGC			0.577	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252453.1		NM_198321	
RAB24	53917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	176729427	176729427	+	Missense_Mutation	SNP	T	T	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:176729427T>G	ENST00000303251.6	-	5	823	c.404A>C	c.(403-405)gAc>gCc	p.D135A	PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000393611.2_Missense_Mutation_p.D135A|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000303270.6_Missense_Mutation_p.D106A	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	135					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCGTGGAAGTCCACACGTCG	0.567																																					p.D135A													.	.			0			c.A404C												104.0	105.0	104.0					5																	176729427		2203	4300	6503	SO:0001583	missense	53917	exon5			TGGAAGTCCACAC	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.404A>C	5.37:g.176729427T>G	ENSP00000304376:p.Asp135Ala		78	0	0		57	0.07	4	NM_001031677	46	0.13	6	Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022333	0.75275	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.76186	-1.0;-1.0;-1.0	5.13	5.13	0.70059	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.63402	0.2508	N	0.20986	0.625	0.80722	D	1	P;P	0.49307	0.752;0.922	B;B	0.43052	0.388;0.406	T	0.63283	-0.6672	10	0.27785	T	0.31	-20.5339	14.9316	0.70919	0.0:0.0:0.0:1.0	.	135;106	Q969Q5;F8W8H5	RAB24_HUMAN;.	A	135;135;106	ENSP00000377235:D135A;ENSP00000304376:D135A;ENSP00000302085:D106A	ENSP00000304376:D135A	D	-	2	0	RAB24	176662033	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.590000	0.82653	1.933000	0.56026	0.454000	0.30748	GAC			0.567	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253416.1		NM_130781	
MGAT4B	11282	ucsc.edu	37	5	179226299	179226299	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr5:179226299G>T	ENST00000292591.7	-	10	1403	c.1053C>A	c.(1051-1053)gaC>gaA	p.D351E	MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000337755.5_Missense_Mutation_p.D366E|MGAT4B_ENST00000521305.1_5'Flank	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	351					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTTCTGCCGGTCACAGTGCT	0.627																																					p.D366E	GBM(13;414 434 4098 22176 23230)												.	MGAT4B	41		0			c.C1098A												74.0	73.0	73.0					5																	179226299		2201	4300	6501	SO:0001583	missense	11282	exon9			CTGCCGGTCACAG	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1053C>A	5.37:g.179226299G>T	ENSP00000292591:p.Asp351Glu		60	0	0		42	0.10	4	NM_054013	216	0.00	0	A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	CCDS4448.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.37|14.37|14.37	2.513846|2.513846|2.513846	0.44763|0.44763|0.44763	.|.|.	.|.|.	ENSG00000161013|ENSG00000161013|ENSG00000161013	ENST00000337755;ENST00000292591|ENST00000518778;ENST00000518867|ENST00000520969	T;T|.|.	0.40756|.|.	1.02;1.02|.|.	3.74|3.74|3.74	0.513|0.513|0.513	0.17000|0.17000|0.17000	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.47967|0.47967|0.47967	0.1474|0.1474|0.1474	L|L|L	0.33137|0.33137|0.33137	0.985|0.985|0.985	0.50467|0.50467|0.50467	D|D|D	0.999871|0.999871|0.999871	P;B;D|.|.	0.61697|.|.	0.884;0.005;0.99|.|.	P;B;D|.|.	0.72625|.|.	0.608;0.019;0.978|.|.	T|T|T	0.25152|0.25152|0.25152	-1.0140|-1.0140|-1.0140	10|5|5	0.25106|.|.	T|.|.	0.35|.|.	-34.5428|-34.5428|-34.5428	8.7735|8.7735|8.7735	0.34747|0.34747|0.34747	0.4723:0.0:0.5277:0.0|0.4723:0.0:0.5277:0.0|0.4723:0.0:0.5277:0.0	.|.|.	351;366;350|.|.	Q9UQ53;A8MPR0;Q9UQ53-2|.|.	MGT4B_HUMAN;.;.|.|.	E|T|N	366;351|176;163|48	ENSP00000338487:D366E;ENSP00000292591:D351E|.|.	ENSP00000292591:D351E|.|.	D|P|T	-|-|-	3|1|2	2|0|0	MGAT4B|MGAT4B|MGAT4B	179158905|179158905|179158905	0.975000|0.975000|0.975000	0.34042|0.34042|0.34042	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.945000|0.945000|0.945000	0.59286|0.59286|0.59286	0.160000|0.160000|0.160000	0.16462|0.16462|0.16462	0.223000|0.223000|0.223000	0.20920|0.20920|0.20920	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAC|CCG|ACC			0.627	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253503.3		NM_014275	
DPCR1	135656	hgsc.bcm.edu	37	6	30917807	30917807	+	Silent	SNP	C	C	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr6:30917807C>T	ENST00000462446.1	+	2	1594	c.1566C>T	c.(1564-1566)caC>caT	p.H522H	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	268						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CTACAGAACACGGAGAAAGGA	0.512																																					p.H522H													.	.			0			c.C1566T												70.0	79.0	77.0					6																	30917807		692	1591	2283	SO:0001819	synonymous_variant	135656	exon2			AGAACACGGAGAA	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1566C>T	6.37:g.30917807C>T			88	0	0		74	0.08	6	NM_080870	0		0	C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	CCDS4692.2																																																																																					0.512	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000076173.3		NM_080870	
LY6G5B	58496	broad.mit.edu	37	6	31639910	31639910	+	Missense_Mutation	SNP	A	A	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr6:31639910A>G	ENST00000375864.4	+	3	1241	c.457A>G	c.(457-459)Acg>Gcg	p.T153A	CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR|LY6G5B_ENST00000409525.1_Missense_Mutation_p.T98A	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	153						extracellular region (GO:0005576)				lung(4)	4						CCATGCTGGGACGGAGCCTGA	0.592																																					p.T153A													.	LY6G5B	8		0			c.A457G												77.0	67.0	70.0					6																	31639910		1511	2708	4219	SO:0001583	missense	58496	exon3			GCTGGGACGGAGC	AF129756	CCDS34400.1	6p21.3	2008-08-01	2002-07-29	2002-08-01	ENSG00000240053	ENSG00000240053			13931	protein-coding gene	gene with protein product		610433	"""chromosome 6 open reading frame 19"""	C6orf19		8812450, 12079290, 17008713	Standard	NM_021221		Approved	G5b		Q8NDX9	OTTHUMG00000031227	ENST00000375864.4:c.457A>G	6.37:g.31639910A>G	ENSP00000365024:p.Thr153Ala		203	0.0049261084	1		176	0.03	5	NM_021221	69	0.00	0	B0UXB2|B0UZ65|B0UZP8|B7ZCA3|Q5SQ62|Q5SST3|Q9UKT0|Q9UMQ0	Missense_Mutation	SNP	ENST00000375864.4	37	CCDS34400.1	.	.	.	.	.	.	.	.	.	.	A	9.514	1.106548	0.20714	.	.	ENSG00000240053	ENST00000409691;ENST00000375864;ENST00000409525	T;T	0.22539	1.96;1.95	4.3	0.66	0.17868	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.39375	-0.9617	8	0.51188	T	0.08	-0.6858	5.8594	0.18738	0.6611:0.0:0.3389:0.0	.	153	Q8NDX9	LY65B_HUMAN	A	150;153;98	ENSP00000365024:T153A;ENSP00000386365:T98A	ENSP00000365024:T153A	T	+	1	0	LY6G5B	31747889	0.001000	0.12720	0.072000	0.20136	0.629000	0.37895	-0.243000	0.08915	0.296000	0.22592	0.379000	0.24179	ACG			0.592	LY6G5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000124389.4			
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	66094357	66094357	+	Missense_Mutation	SNP	T	T	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr6:66094357T>A	ENST00000370621.3	-	8	1747	c.1221A>T	c.(1219-1221)aaA>aaT	p.K407N	EYS_ENST00000503581.1_Missense_Mutation_p.K407N|EYS_ENST00000370616.2_Missense_Mutation_p.K407N|EYS_ENST00000393380.2_Missense_Mutation_p.K407N|EYS_ENST00000370618.3_Missense_Mutation_p.K407N|EYS_ENST00000342421.5_Missense_Mutation_p.K407N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	407					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGTCAATTGCTTTCTCACAGT	0.289																																					p.K407N													.	.			0			c.A1221T												91.0	87.0	88.0					6																	66094357		2202	4295	6497	SO:0001583	missense	346007	exon8			AATTGCTTTCTCA		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1221A>T	6.37:g.66094357T>A	ENSP00000359655:p.Lys407Asn		81	0	0		85	0.35	30	NM_001142801	0		0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	T	14.13	2.442920	0.43326	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	6.07	3.66	0.41972	.	.	.	.	.	T	0.14614	0.0353	L	0.28608	0.87	0.24154	N	0.99569	D;D;D	0.63880	0.96;0.993;0.988	P;P;P	0.57057	0.663;0.812;0.654	T	0.03981	-1.0987	9	0.17369	T	0.5	.	5.4184	0.16386	0.128:0.1402:0.0:0.7318	.	407;407;407	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	407	ENSP00000424243:K407N;ENSP00000359655:K407N;ENSP00000359650:K407N;ENSP00000377042:K407N;ENSP00000341818:K407N;ENSP00000359652:K407N	ENSP00000341818:K407N	K	-	3	2	EYS	66151078	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	1.923000	0.40055	1.114000	0.41781	0.533000	0.62120	AAA			0.289	EYS-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000351351.3		XM_294050	
TMEM200A	114801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	130762743	130762743	+	Silent	SNP	G	G	T	rs141571184		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr6:130762743G>T	ENST00000296978.3	+	3	2047	c.1176G>T	c.(1174-1176)tcG>tcT	p.S392S	TMEM200A_ENST00000545622.1_Silent_p.S392S|TMEM200A_ENST00000392429.1_Silent_p.S392S	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	392						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATTTGCTCTCGTCACACTCAA	0.527																																					p.S392S													.	.			0			c.G1176T												88.0	82.0	84.0					6																	130762743		2203	4300	6503	SO:0001819	synonymous_variant	114801	exon3			GCTCTCGTCACAC	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1176G>T	6.37:g.130762743G>T			65	0	0		63	0.32	20	NM_001258277	4	0.50	2	Q96PX5	Silent	SNP	ENST00000296978.3	37	CCDS5140.1																																																																																					0.527	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042201.1		NM_052913	
PMS2CL	441194	broad.mit.edu	37	7	6786205	6786206	+	RNA	INS	-	-	T	rs563654191|rs370173844	byFrequency	TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr7:6786205_6786206insT	ENST00000486256.1	+	0	1963					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		CATATAGACTGtttttttttta	0.272													|||unknown(HR)	316	0.063099	0.034	0.0331	5008	,	,		12018	0.0764		0.0696	False		,,,				2504	0.1033				.													.	.			0			.																																											0	.			TAGACTGTTTTTT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6786215_6786215dupT			7	0	0		9	0.33	3	.	0		0	B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.272	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000324193.1		NR_002217	
PLEKHA8	84725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	7	30129789	30129789	+	Nonstop_Mutation	SNP	T	T	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr7:30129789T>G	ENST00000258679.7	+	13	1722	c.1321T>G	c.(1321-1323)Tga>Gga	p.*441G	PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000396257.2_Intron	NM_032639.3	NP_116028.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	0	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						agaaaacacttgacaccaaaa	0.368																																					p.X441G													.	.			0			c.T1321G												108.0	100.0	103.0					7																	30129789		1327	2309	3636	SO:0001578	stop_lost	84725	exon13			AACACTTGACACC	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000258679.7:c.1321T>G	7.37:g.30129789T>G	ENSP00000258679:p.*441Glyext*6		249	0	0		332	0.11	38	NM_032639	2	0.50	1	B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000258679.7	37	CCDS5424.1	.	.	.	.	.	.	.	.	.	.	T	1.535	-0.543404	0.04053	.	.	ENSG00000106086	ENST00000258679	.	.	.	1.01	-0.352	0.12598	.	.	.	.	.	.	.	.	.	.	.	0.20975	N	0.999817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6957	0.08364	0.0:0.0:0.4096:0.5904	.	.	.	.	G	441	.	.	X	+	1	0	PLEKHA8	30096314	0.023000	0.18921	0.276000	0.24689	0.158000	0.22134	0.318000	0.19504	-0.106000	0.12110	0.421000	0.28195	TGA			0.368	PLEKHA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000214982.1		NM_032639	
GTF2IRD2P1	401375	broad.mit.edu;bcgsc.ca	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																					.													.	.			0			.																																											0	.			CCGGGGTCCTTGA	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G			129	0.015503876	2		172	0.05	8	.	1	0.00	0		RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000345921.1		NR_002164	
ARHGEF5	7984	broad.mit.edu	37	7	144062343	144062343	+	Missense_Mutation	SNP	A	A	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr7:144062343A>G	ENST00000056217.5	+	2	2755	c.2581A>G	c.(2581-2583)Agg>Ggg	p.R861G	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	861					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GTCCAGGGGGAGGAGCAGGAG	0.592																																					p.R861G													.	ARHGEF5	73		0			c.A2581G												65.0	74.0	71.0					7																	144062343		2201	4298	6499	SO:0001583	missense	7984	exon2			AGGGGGAGGAGCA	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2581A>G	7.37:g.144062343A>G	ENSP00000056217:p.Arg861Gly		563	0.0035523979	2		567	0.01	6	NM_005435	39	0.00	0	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	A	7.375	0.627694	0.14257	.	.	ENSG00000050327	ENST00000056217	T	0.80304	-1.36	4.05	2.84	0.33178	.	0.352939	0.23012	N	0.052959	T	0.75459	0.3852	L	0.34521	1.04	0.24573	N	0.993913	D	0.60160	0.987	P	0.51516	0.672	T	0.66705	-0.5856	10	0.66056	D	0.02	-11.7374	7.2598	0.26197	0.7739:0.2261:0.0:0.0	.	861	Q12774	ARHG5_HUMAN	G	861	ENSP00000056217:R861G	ENSP00000056217:R861G	R	+	1	2	ARHGEF5	143693276	0.003000	0.15002	0.219000	0.23793	0.011000	0.07611	0.645000	0.24782	0.583000	0.29574	0.454000	0.30748	AGG			0.592	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349981.1		NM_005435	
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																					p.S741T													DLC1,bladder,carcinoma,0,3	DLC1	411	3	0			c.G2222C												56.0	47.0	50.0					8																	12957624		2203	4300	6503	SO:0001583	missense	10395	exon9			CTGCTGCTGGTCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr		76	0	0		89	0.04	4	NM_182643	18	0.00	0	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC			0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000207632.2		NM_182643, NM_006094	
CA8	767	broad.mit.edu	37	8	61144876	61144876	+	Silent	SNP	C	C	T	rs537454715	byFrequency	TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr8:61144876C>T	ENST00000317995.4	-	4	744	c.480G>A	c.(478-480)ccG>ccA	p.P160P	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	160					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	CGATTCCGTGCGGCTTCCCCA	0.433													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18401	0.0		0.0	False		,,,				2504	0.0				p.P160P													.	CA8	31		0			c.G480A												181.0	168.0	173.0					8																	61144876		2203	4300	6503	SO:0001819	synonymous_variant	767	exon4			TCCGTGCGGCTTC	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.480G>A	8.37:g.61144876C>T			107	0	0		161	0.02	4	NM_004056	8	0.00	0	A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	ENST00000317995.4	37	CCDS6174.1																																																																																					0.433	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383445.1			
PTPRD	5789	mdanderson.org	37	9	8376014	8376014	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:8376014G>T	ENST00000381196.4	-	36	5126	c.4583C>A	c.(4582-4584)cCt>cAt	p.P1528H	PTPRD_ENST00000360074.4_Missense_Mutation_p.P1515H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1506H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P1122H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P1121H|PTPRD_ENST00000397617.3_Missense_Mutation_p.P1121H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1528H|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1528H|PTPRD_ENST00000397606.3_Missense_Mutation_p.P1121H|PTPRD_ENST00000397611.3_Missense_Mutation_p.P1118H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P1118H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1528	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAAAGGTGTAGGGTGTTCTGG	0.468										TSP Lung(15;0.13)																											p.P1528H													.	.			0			c.C4583A												126.0	111.0	116.0					9																	8376014		2203	4299	6502	SO:0001583	missense	5789	exon39			GGTGTAGGGTGTT	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4583C>A	9.37:g.8376014G>T	ENSP00000370593:p.Pro1528His		100	0	0		119	0.04	5	NM_002839	1	0.00	0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446617	0.84101	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.71	5.71	0.89125	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	H	0.96489	3.83	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;0.993;0.999;0.999;0.999	T	0.80460	-0.1373	9	.	.	.	.	19.8352	0.96655	0.0:0.0:1.0:0.0	.	1121;1112;1121;1122;1118;1118;1515;1528;1528	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1528;1528;1515;1506;1122;1121;1118;1118;999;1528;1121;1121	ENSP00000370593:P1528H;ENSP00000348812:P1528H;ENSP00000353187:P1515H;ENSP00000351293:P1506H;ENSP00000347373:P1122H;ENSP00000380741:P1121H;ENSP00000380735:P1118H;ENSP00000440515:P1118H;ENSP00000438164:P1528H;ENSP00000417093:P1121H;ENSP00000380731:P1121H	.	P	-	2	0	PTPRD	8366014	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.813000	0.99286	2.698000	0.92095	0.585000	0.79938	CCT			0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055395.3			
ALDH1A1	216	mdanderson.org	37	9	75543822	75543822	+	Missense_Mutation	SNP	C	C	T	rs149236405		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:75543822C>T	ENST00000297785.3	-	4	482	c.428G>A	c.(427-429)cGt>cAt	p.R143H	ALDH1A1_ENST00000376939.1_Missense_Mutation_p.R143H|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	143					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TGGTATTGTACGGCCCTGGAT	0.413																																					p.R143H													.	.			0			c.G428A							C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	174.0	156.0	162.0		428	3.2	0.0	9	dbSNP_134	162	0,8600		0,0,4300	no	missense	ALDH1A1	NM_000689.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	143/502	75543822	1,13005	2203	4300	6503	SO:0001583	missense	216	exon4			ATTGTACGGCCCT	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.428G>A	9.37:g.75543822C>T	ENSP00000297785:p.Arg143His		121	0.0082644628	1		91	0.04	4	NM_000689	15	0.00	0	O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463208	0.63513	2.27E-4	0.0	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.03	3.15	0.36227	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.159128	0.45361	D	0.000365	T	0.68284	0.2984	L	0.58354	1.805	0.09310	N	1	P	0.35493	0.505	B	0.26310	0.068	T	0.61451	-0.7060	10	0.72032	D	0.01	.	8.5513	0.33453	0.0:0.7345:0.1274:0.1381	.	143	P00352	AL1A1_HUMAN	H	143;143;157;143;143	ENSP00000297785:R143H;ENSP00000366138:R143H;ENSP00000388026:R143H;ENSP00000401361:R143H	ENSP00000297785:R143H	R	-	2	0	ALDH1A1	74733642	0.057000	0.20700	0.036000	0.18154	0.809000	0.45718	0.391000	0.20784	0.403000	0.25479	0.655000	0.94253	CGT	0		0.413	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052679.1			
PHF2	5253	broad.mit.edu	37	9	96408040	96408040	+	Silent	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:96408040G>T	ENST00000359246.4	+	4	796	c.429G>T	c.(427-429)acG>acT	p.T143T	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	143					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CGGCCCCCACGTTCTATGTCA	0.622																																					p.T143T													.	PHF2	113		0			c.G429T												62.0	57.0	59.0					9																	96408040		2203	4300	6503	SO:0001819	synonymous_variant	5253	exon4			CCCCACGTTCTAT	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.429G>T	9.37:g.96408040G>T			79	0	0		57	0.05	3	NM_005392	69	0.01	1	Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	CCDS35069.1																																																																																					0.622	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053162.1		NM_005392	
CCDC180	100499483	mdanderson.org	37	9	100075592	100075592	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:100075592G>T	ENST00000357054.1	+	19	1908	c.973G>T	c.(973-975)Gcc>Tcc	p.A325S	CCDC180_ENST00000529487.1_Missense_Mutation_p.A186S|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.A186S|CCDC180_ENST00000411667.2_Missense_Mutation_p.A186S|CCDC180_ENST00000395220.1_Missense_Mutation_p.A325S|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	325						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GAGCGCTCTGGCCAGCTTTCA	0.537																																					p.A186S													.	.			0			c.G556T												135.0	108.0	117.0					9																	100075592		2203	4300	6503	SO:0001583	missense	0	exon5			GCTCTGGCCAGCT	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.973G>T	9.37:g.100075592G>T	ENSP00000349562:p.Ala325Ser		70	0	0		39	0.08	3	NM_020893	3	0.00	0	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	G	9.904	1.207614	0.22205	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.71	1.31	0.21738	.	1.387640	0.04358	N	0.357035	T	0.17323	0.0416	L	0.35414	1.06	0.19300	N	0.999972	B;B;B;B	0.28850	0.225;0.225;0.225;0.225	B;B;B;B	0.23716	0.048;0.048;0.048;0.048	T	0.20306	-1.0279	10	0.09590	T	0.72	-0.5367	6.4714	0.22009	0.4329:0.0:0.5671:0.0	.	186;325;186;325	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	S	325;325;186;186;209;186	ENSP00000349562:A325S;ENSP00000378646:A325S;ENSP00000364348:A186S;ENSP00000414000:A186S;ENSP00000434727:A186S	ENSP00000349562:A325S	A	+	1	0	C9orf174	99115413	0.063000	0.20901	0.195000	0.23364	0.110000	0.19582	0.122000	0.15687	0.453000	0.26858	0.561000	0.74099	GCC			0.537	CCDC180-201	KNOWN	basic	protein_coding	protein_coding				NM_020893	
NUP188	23511	mdanderson.org	37	9	131764184	131764184	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:131764184G>T	ENST00000372577.2	+	36	4087	c.4066G>T	c.(4066-4068)Gct>Tct	p.A1356S	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1356					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGTGGCTGGAGCTGGCATCAC	0.602																																					p.A1356S													.	.			0			c.G4066T												60.0	53.0	55.0					9																	131764184		2202	4300	6502	SO:0001583	missense	23511	exon36			GCTGGAGCTGGCA	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4066G>T	9.37:g.131764184G>T	ENSP00000361658:p.Ala1356Ser		87	0	0		43	0.07	3	NM_015354	139	0.01	1	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130884	0.56828	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.28895	1.59	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.48909	0.1526	L	0.53249	1.67	0.80722	D	1	P;D	0.63880	0.473;0.993	B;D	0.72625	0.091;0.978	T	0.21484	-1.0244	10	0.18276	T	0.48	-23.6569	17.1107	0.86674	0.0:0.0:1.0:0.0	.	689;1356	E9PET9;Q5SRE5	.;NU188_HUMAN	S	1245;1356	ENSP00000361658:A1356S	ENSP00000349125:A1245S	A	+	1	0	NUP188	130804005	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.929000	0.92859	2.619000	0.88677	0.462000	0.41574	GCT			0.602	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054529.2			
MED27	9442	bcgsc.ca	37	9	134814839	134814839	+	Missense_Mutation	SNP	G	G	A			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:134814839G>A	ENST00000292035.5	-	4	565	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	MED27_ENST00000357028.2_Missense_Mutation_p.R168C	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	168					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CTGTCAATGCGGCTGATCACA	0.383																																					p.R168C	Colon(41;784 923 6932 42329 52483)												.	MED27	37		0			c.C502T												123.0	101.0	108.0					9																	134814839		2203	4300	6503	SO:0001583	missense	9442	exon4			CAATGCGGCTGAT	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.502C>T	9.37:g.134814839G>A	ENSP00000292035:p.Arg168Cys		52	0	0		43	0.09	4	NM_001253881	24	0.00	0	O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437161	0.83885	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	L	0.44542	1.39	0.80722	D	1	B;D;B	0.69078	0.006;0.997;0.001	B;P;B	0.52881	0.001;0.712;0.0	T	0.64483	-0.6397	9	0.52906	T	0.07	-6.7662	18.372	0.90409	0.0:0.0:1.0:0.0	.	168;168;168	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	C	168;130;168	.	ENSP00000292035:R168C	R	-	1	0	MED27	133804660	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.004000	0.88535	2.644000	0.89710	0.655000	0.94253	CGC			0.383	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054770.2		NM_004269	
COL5A1	1289	mdanderson.org	37	9	137696858	137696858	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:137696858G>T	ENST00000371817.3	+	40	3566	c.3152G>T	c.(3151-3153)gGc>gTc	p.G1051V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1051	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGAAAGATGGCCCTCCAGGA	0.617																																					p.G1051V													.	.			0			c.G3152T												57.0	52.0	54.0					9																	137696858		2203	4300	6503	SO:0001583	missense	1289	exon40			AAGATGGCCCTCC	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3152G>T	9.37:g.137696858G>T	ENSP00000360882:p.Gly1051Val		88	0	0		67	0.06	4	NM_000093	170	0.00	0	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808466	0.70797	.	.	ENSG00000130635	ENST00000371817	D	0.99637	-6.29	5.12	5.12	0.69794	.	0.000000	0.85682	U	0.000000	D	0.99829	0.9923	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96566	0.9419	10	0.87932	D	0	.	18.5537	0.91075	0.0:0.0:1.0:0.0	.	1051	P20908	CO5A1_HUMAN	V	1051	ENSP00000360882:G1051V	ENSP00000360882:G1051V	G	+	2	0	COL5A1	136836679	1.000000	0.71417	0.594000	0.28785	0.982000	0.71751	9.691000	0.98679	2.390000	0.81377	0.446000	0.29264	GGC			0.617	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054954.2		NM_000093	
FAM157B	100132403	broad.mit.edu	37	9	141124391	141124392	+	lincRNA	DEL	TG	TG	-	rs367820400		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chr9:141124391_141124392delTG	ENST00000446912.2	+	0	906							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		TAATGTGTTTTGTTTTTTTTTT	0.376																																					.													.	.			0			.																																											0	.			GTGTTTTGTTTTT			9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141124391_141124392delTG			21	0	0		13	0.23	3	.	0		0		RNA	DEL	ENST00000446912.2	37																																																																																						0.376	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	lincRNA		OTTHUMT00000055378.2		NM_001145249	
CDKL5	6792	broad.mit.edu	37	X	18622108	18622108	+	Missense_Mutation	SNP	G	G	T	rs189400843		TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chrX:18622108G>T	ENST00000379989.3	+	13	1349	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	CDKL5_ENST00000379996.3_Missense_Mutation_p.R355L|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	355					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GGCCTGCCCCGGGCTGACGAA	0.498																																					p.R355L													.	CDKL5	124		0			c.G1064T												140.0	143.0	142.0					X																	18622108		2203	4300	6503	SO:0001583	missense	6792	exon12			TGCCCCGGGCTGA	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1064G>T	X.37:g.18622108G>T	ENSP00000369325:p.Arg355Leu		222	0.0045045045	1		257	0.02	4	NM_003159	19	0.00	0	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361165	0.82353	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71934	-0.61;-0.61	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	L	0.34521	1.04	0.48185	D	0.9996	D	0.89917	1.0	D	0.81914	0.995	T	0.80908	-0.1172	10	0.87932	D	0	-16.5214	19.1693	0.93570	0.0:0.0:1.0:0.0	.	355	O76039	CDKL5_HUMAN	L	355	ENSP00000369332:R355L;ENSP00000369325:R355L	ENSP00000369325:R355L	R	+	2	0	CDKL5	18532029	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	9.391000	0.97249	2.478000	0.83669	0.600000	0.82982	CGG			0.498	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055945.2		NM_003159	
F8	2157	broad.mit.edu	37	X	154133089	154133089	+	Missense_Mutation	SNP	G	G	T			TCGA-SO-A8JP-01A-11D-A435-10	TCGA-SO-A8JP-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8f0ba93-fcd8-4209-871e-8c7c2a4c0103	e5745f56-83f7-4400-a405-ca157b25933f	g.chrX:154133089G>T	ENST00000360256.4	-	16	5783	c.5583C>A	c.(5581-5583)gaC>gaA	p.D1861E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1861	F5/8 type A 3.|Plastocyanin-like 5.				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)	TGCTTACCAGGTCAACATCAG	0.373																																					p.D1861E													.	F8	646		0			c.C5583A												98.0	80.0	86.0					X																	154133089		2203	4300	6503	SO:0001583	missense	2157	exon16			TACCAGGTCAACA	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.5583C>A	X.37:g.154133089G>T	ENSP00000353393:p.Asp1861Glu		98	0	0		122	0.03	4	NM_000132	16	0.00	0	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064098	0.55432	.	.	ENSG00000185010	ENST00000360256	D	0.98901	-5.22	4.91	0.543	0.17179	Cupredoxin (2);	0.098056	0.64402	D	0.000002	D	0.98273	0.9428	M	0.76170	2.325	0.42504	D	0.992946	D	0.53619	0.961	P	0.58820	0.846	D	0.97086	0.9787	10	0.72032	D	0.01	-23.5799	7.2093	0.25925	0.5506:0.0:0.4494:0.0	.	1861	P00451	FA8_HUMAN	E	1861	ENSP00000353393:D1861E	ENSP00000353393:D1861E	D	-	3	2	F8	153786283	0.955000	0.32602	1.000000	0.80357	0.961000	0.63080	0.124000	0.15728	0.184000	0.20083	-0.522000	0.04353	GAC			0.373	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058869.4			
