#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
AGRN	375790	mdanderson.org	37	1	984809	984809	+	Missense_Mutation	SNP	G	G	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:984809G>A	ENST00000379370.2	+	25	4542	c.4492G>A	c.(4492-4494)Gta>Ata	p.V1498I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1498	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGTGGGCGGCGTACCCGAGGA	0.682																																					p.V1498I													.	.			0			c.G4492A												55.0	64.0	61.0					1																	984809		2203	4300	6503	SO:0001583	missense	375790	exon25			GGCGGCGTACCCG	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4492G>A	1.37:g.984809G>A	ENSP00000368678:p.Val1498Ile		15	0	0		17	0.12	2	NM_198576	30	0.00	0	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	g	5.367	0.252986	0.10185	.	.	ENSG00000188157	ENST00000379370	T	0.73681	-0.77	4.33	-2.74	0.05932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.587691	0.14381	N	0.323151	T	0.49847	0.1581	N	0.25957	0.775	0.27313	N	0.957268	B	0.20368	0.044	B	0.16722	0.016	T	0.30534	-0.9975	10	0.17369	T	0.5	-11.1033	2.0486	0.03566	0.2793:0.124:0.4695:0.1273	.	1498	O00468	AGRIN_HUMAN	I	1498	ENSP00000368678:V1498I	ENSP00000368678:V1498I	V	+	1	0	AGRN	974672	0.683000	0.27633	0.009000	0.14445	0.001000	0.01503	2.196000	0.42686	-0.850000	0.04152	-0.384000	0.06662	GTA			0.682	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097990.2		NM_198576	
SMIM1	388588	mdanderson.org	37	1	3692413	3692413	+	Silent	SNP	C	C	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:3692413C>T	ENST00000444870.2	+	4	413	c.165C>T	c.(163-165)ggC>ggT	p.G55G		NM_001163724.1	NP_001157196.1	B2RUZ4	SMIM1_HUMAN	small integral membrane protein 1 (Vel blood group)	55						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGGTGCTGGGCGGCGTGGCCC	0.622																																					p.G55G													.	.			0			c.C165T												74.0	76.0	75.0					1																	3692413		692	1591	2283	SO:0001819	synonymous_variant	388588	exon4			GCTGGGCGGCGTG		CCDS57966.1	1p36.32	2014-07-18	2014-01-02		ENSG00000235169	ENSG00000235169		"""Blood group antigens"""	44204	protein-coding gene	gene with protein product		615242	"""small integral membrane protein 1"""			23505126, 23563606, 23563608	Standard	NM_001163724		Approved	Vel	uc001akw.4	B2RUZ4	OTTHUMG00000003505	ENST00000444870.2:c.165C>T	1.37:g.3692413C>T			46	0	0		49	0.06	3	NM_001163724	19	0.00	0		Silent	SNP	ENST00000444870.2	37	CCDS57966.1																																																																																					0.622	SMIM1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000009742.2		NM_001163724	
PER3	8863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	7870564	7870564	+	Missense_Mutation	SNP	G	G	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:7870564G>C	ENST00000361923.2	+	12	1610	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	PER3_ENST00000377532.3_Missense_Mutation_p.E480Q|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	479					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTACATTGAGTCAATGAC	0.463																																					p.E479Q													.	.			0			c.G1435C												83.0	77.0	79.0					1																	7870564		2203	4300	6503	SO:0001583	missense	8863	exon12			TACATTGAGTCAA	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1435G>C	1.37:g.7870564G>C	ENSP00000355031:p.Glu479Gln		111	0	0		122	0.32	39	NM_016831	14	0.29	4	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967294	0.74131	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.11712	2.75;2.75	4.65	1.69	0.24217	.	0.394373	0.27280	N	0.020087	T	0.18509	0.0444	M	0.81341	2.54	0.20307	N	0.999913	P;D;D;P	0.58620	0.454;0.971;0.983;0.454	B;B;P;B	0.49999	0.154;0.424;0.628;0.154	T	0.08554	-1.0716	10	0.52906	T	0.07	.	5.6896	0.17823	0.0763:0.1384:0.6417:0.1436	.	479;480;480;479	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	Q	480;479	ENSP00000366755:E480Q;ENSP00000355031:E479Q	ENSP00000355031:E479Q	E	+	1	0	PER3	7793151	1.000000	0.71417	0.003000	0.11579	0.559000	0.35586	5.070000	0.64376	0.196000	0.20367	-0.128000	0.14901	GAG			0.463	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000003607.1		NM_016831	
BAI2	576	broad.mit.edu	37	1	32221746	32221746	+	Missense_Mutation	SNP	G	G	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:32221746G>C	ENST00000373658.3	-	4	1033	c.692C>G	c.(691-693)gCc>gGc	p.A231G	BAI2_ENST00000398547.1_Missense_Mutation_p.A219G|BAI2_ENST00000373655.2_Missense_Mutation_p.A231G|BAI2_ENST00000398542.1_Missense_Mutation_p.A219G|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000257070.4_Missense_Mutation_p.A231G|BAI2_ENST00000527361.1_Missense_Mutation_p.A231G|BAI2_ENST00000398538.1_Missense_Mutation_p.A219G|BAI2_ENST00000398556.3_Missense_Mutation_p.A234G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	231					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A231G(2)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGTGGAGCCGGCCCCCGCCTC	0.711																																					p.A231G													BAI2,NS,carcinoma,0,1	BAI2	128	1	2	Substitution - Missense(2)	lung(2)	c.C692G												25.0	33.0	30.0					1																	32221746		2201	4297	6498	SO:0001583	missense	576	exon4			GAGCCGGCCCCCG	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.692C>G	1.37:g.32221746G>C	ENSP00000362762:p.Ala231Gly		71	0.2957746479	21		54	0.31	17	NM_001703	3	0.00	0	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	2.541	-0.306384	0.05458	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.45276	1.59;1.79;0.95;0.95;1.96;0.9;0.9;0.98;1.58;1.43	5.08	4.17	0.49024	.	0.353687	0.20794	N	0.085578	T	0.20901	0.0503	N	0.08118	0	0.43122	D	0.994846	B;B;B;B;B;B	0.30281	0.0;0.275;0.054;0.001;0.026;0.015	B;B;B;B;B;B	0.26614	0.0;0.071;0.047;0.001;0.034;0.015	T	0.07443	-1.0772	10	0.25751	T	0.34	.	9.8209	0.40883	0.0967:0.0:0.9033:0.0	.	219;231;219;219;231;231	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	G	234;219;231;231;219;231;231;219;224;265	ENSP00000381564:A234G;ENSP00000381555:A219G;ENSP00000362762:A231G;ENSP00000362759:A231G;ENSP00000381550:A219G;ENSP00000257070:A231G;ENSP00000435397:A231G;ENSP00000381548:A219G;ENSP00000410921:A224G;ENSP00000437219:A265G	ENSP00000257070:A231G	A	-	2	0	BAI2	31994333	0.014000	0.17966	0.066000	0.19879	0.322000	0.28314	1.196000	0.32198	1.283000	0.44513	0.462000	0.41574	GCC			0.711	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000381838.1		NM_001703	
CLDN19	149461	mdanderson.org	37	1	43201580	43201580	+	Missense_Mutation	SNP	A	A	G			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:43201580A>G	ENST00000296387.1	-	4	785	c.595T>C	c.(595-597)Tat>Cat	p.Y199H	CLDN19_ENST00000539749.1_Silent_p.P170P|CLDN19_ENST00000372539.3_Missense_Mutation_p.Y199H	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	199					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGGCCGATAGGGCTGTGGG	0.701																																					p.Y199H													.	.			0			c.T595C												34.0	32.0	33.0					1																	43201580		2191	4286	6477	SO:0001583	missense	149461	exon4			GCCGATAGGGCTG	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.595T>C	1.37:g.43201580A>G	ENSP00000296387:p.Tyr199His		69	0	0		44	0.07	3	NM_001123395	26	0.00	0	B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	CCDS471.1	.	.	.	.	.	.	.	.	.	.	a	13.65	2.301101	0.40694	.	.	ENSG00000164007	ENST00000296387;ENST00000372539	D;D	0.91180	-2.8;-2.78	4.31	4.31	0.51392	.	0.484228	0.21268	N	0.077380	T	0.80618	0.4657	N	0.08118	0	0.80722	D	1	B;B	0.19445	0.036;0.003	B;B	0.22880	0.042;0.009	T	0.76599	-0.2900	10	0.41790	T	0.15	.	11.4698	0.50261	1.0:0.0:0.0:0.0	.	199;199	Q8N6F1-2;Q8N6F1	.;CLD19_HUMAN	H	199	ENSP00000296387:Y199H;ENSP00000361617:Y199H	ENSP00000296387:Y199H	Y	-	1	0	CLDN19	42974167	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.046000	0.57376	1.816000	0.52996	0.375000	0.23000	TAT			0.701	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000019788.1		NM_148960	
CYP4Z2P	163720	broad.mit.edu	37	1	47325179	47325179	+	RNA	SNP	C	C	A	rs112740312	byFrequency	TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:47325179C>A	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										TGAGAGCTCTCTCCTCTTTCT	0.448																																					.													.	.			0			.																																											0	.			AGCTCTCTCCTCT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325179C>A			52	0.0192307692	1		64	0.08	5	.	0		0	Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.448	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000361094.1		NR_002788	
CYP4Z2P	163720	broad.mit.edu	37	1	47325212	47325212	+	RNA	SNP	G	G	A	rs111656248	byFrequency	TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:47325212G>A	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AATAAGAATGGCCCTAGGTTC	0.393																																					.													.	.			0			.																																											0	.			AGAATGGCCCTAG	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325212G>A			82	0.012195122	1		93	0.05	5	.	0		0	Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.393	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000361094.1		NR_002788	
LPHN2	23266	broad.mit.edu	37	1	82433827	82433827	+	Missense_Mutation	SNP	T	T	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:82433827T>C	ENST00000370728.1	+	16	3100	c.2455T>C	c.(2455-2457)Tgt>Cgt	p.C819R	LPHN2_ENST00000370713.1_Missense_Mutation_p.C806R|LPHN2_ENST00000370715.1_Missense_Mutation_p.C806R|LPHN2_ENST00000394879.1_Missense_Mutation_p.C806R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.C819R|LPHN2_ENST00000370721.1_Missense_Mutation_p.C744R|LPHN2_ENST00000319517.6_Missense_Mutation_p.C806R|LPHN2_ENST00000370725.1_Missense_Mutation_p.C819R|LPHN2_ENST00000335786.5_Missense_Mutation_p.C819R|LPHN2_ENST00000370723.1_Missense_Mutation_p.C806R|LPHN2_ENST00000370730.1_Missense_Mutation_p.C819R|LPHN2_ENST00000370717.2_Missense_Mutation_p.C819R|LPHN2_ENST00000359929.3_Missense_Mutation_p.C806R|LPHN2_ENST00000370727.1_Missense_Mutation_p.C819R			O95490	LPHN2_HUMAN	latrophilin 2	819	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.C806S(1)|p.C819S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCGAACAACGTGTGCATGCAG	0.438																																					p.C806R													LPHN2_ENST00000370725,NS,carcinoma,0,2	LPHN2	464	2	2	Substitution - Missense(2)	endometrium(2)	c.T2416C												120.0	116.0	118.0					1																	82433827		2203	4300	6503	SO:0001583	missense	23266	exon12			ACAACGTGTGCAT	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2455T>C	1.37:g.82433827T>C	ENSP00000359763:p.Cys819Arg		149	0	0		132	0.04	5	NM_012302	18	0.11	2	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	T	19.66	3.869176	0.72065	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	H	0.99487	4.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98395	1.0565	10	0.87932	D	0	.	15.6195	0.76796	0.0:0.0:0.0:1.0	.	806;806;806	O95490-3;O95490-4;O95490-2	.;.;.	R	744;819;819;819;819;806;806;806;806;806;819;806;819;819	ENSP00000359756:C744R;ENSP00000359763:C819R;ENSP00000359765:C819R;ENSP00000359762:C819R;ENSP00000359760:C819R;ENSP00000359758:C806R;ENSP00000353006:C806R;ENSP00000359750:C806R;ENSP00000359748:C806R;ENSP00000322270:C806R;ENSP00000359752:C819R;ENSP00000378344:C806R;ENSP00000271029:C819R;ENSP00000337306:C819R	ENSP00000271029:C819R	C	+	1	0	LPHN2	82206415	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	8.040000	0.89188	2.090000	0.63153	0.477000	0.44152	TGT			0.438	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000027188.1	rescued with RNA-seq	NM_012302	
NBPF20	100288142	ucsc.edu	37	1	148346633	148346633	+	Missense_Mutation	SNP	A	A	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:148346633A>T	ENST00000369202.1	-	2	321	c.124T>A	c.(124-126)Tgt>Agt	p.C42S	NBPF20_ENST00000414710.2_Missense_Mutation_p.C42S			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	42						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						GTTACAAAACATCTCTCTTTG	0.463																																					.													.	.			0			.												102.0	113.0	109.0					1																	148346633		2136	4277	6413	SO:0001583	missense	100288142	.			CAAAACATCTCTC		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.124T>A	1.37:g.148346633A>T	ENSP00000358203:p.Cys42Ser		19	0.1578947368	3		26	0.23	6	.	4	0.75	3		Missense_Mutation	SNP	ENST00000369202.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.978|6.978	0.550559|0.550559	0.13374|0.13374	.|.	.|.	ENSG00000203832|ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710|ENST00000369189	T;T;T|T	0.04015|0.02763	3.87;4.02;3.73|4.17	0.521|0.521	0.521|0.521	0.17046|0.17046	.|.	.|.	.|.	.|.	.|.	T|T	0.00936|0.00936	0.0031|0.0031	.|.	.|.	.|.	0.23528|.	N|.	0.997482|.	B;P|B	0.35542|0.17038	0.347;0.508|0.02	B;B|B	0.40101|0.04013	0.03;0.319|0.001	T|T	0.42949|0.42949	-0.9421|-0.9421	6|6	0.45353|0.87932	T|D	0.12|0	.|.	.|.	.|.	.|.	.|.	42;42|1	Q6P3W6;F5H1Q5|Q6P3W6-2	NBPFA_HUMAN;.|.	S|K	42|1	ENSP00000358203:C42S;ENSP00000358189:C42S;ENSP00000389520:C42S|ENSP00000358190:M1K	ENSP00000358189:C42S|ENSP00000358190:M1K	C|M	-|-	1|2	0|0	NBPF20|NBPF20	146713257|146713257	0.017000|0.017000	0.18338|0.18338	0.002000|0.002000	0.10522|0.10522	0.003000|0.003000	0.03518|0.03518	-0.147000|-0.147000	0.10234|0.10234	0.442000|0.442000	0.26555|0.26555	0.155000|0.155000	0.16302|0.16302	TGT|ATG			0.463	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000100689.2			
HRNR	388697	broad.mit.edu	37	1	152188602	152188604	+	In_Frame_Del	DEL	GTC	GTC	-	rs370029883		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	GTC	GTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:152188602_152188604delGTC	ENST00000368801.2	-	3	5576_5578	c.5501_5503delGAC	c.(5500-5505)cgacat>cat	p.R1834del	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1834					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGGACCCATGTCGGCCGCGACT	0.616																																					p.1834_1835del													.	HRNR	403		0			c.5501_5503del																																									SO:0001651	inframe_deletion	388697	exon3			ACCCATGTCGGCC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5501_5503delGAC	1.37:g.152188602_152188604delGTC	ENSP00000357791:p.Arg1834del		592	0	0		553	0.02	12	NM_001009931	2	0.00	0	Q5DT20|Q5U1F4	In_Frame_Del	DEL	ENST00000368801.2	37	CCDS30859.1																																																																																					0.616	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034016.1		XM_373868	
PEX19	5824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	160254906	160254906	+	Silent	SNP	G	G	T	rs373206658		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:160254906G>T	ENST00000368072.5	-	1	30	c.9C>A	c.(7-9)gcC>gcA	p.A3A	PEX19_ENST00000532508.1_5'Flank|DCAF8_ENST00000608310.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000440949.3_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	3	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCCTCAGCGGCGGCCATCT	0.642																																					p.A3A													.	.			0			c.C9A												67.0	67.0	67.0					1																	160254906		2203	4300	6503	SO:0001819	synonymous_variant	5824	exon1			CTCAGCGGCGGCC	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.9C>A	1.37:g.160254906G>T			69	0	0		53	0.26	14	NM_002857	34	0.21	7	D3DVE7|Q5QNY4|Q8NI97	Silent	SNP	ENST00000368072.5	37	CCDS1201.1																																																																																					0.642	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080642.2		NM_002857	
RGS1	5996	mdanderson.org	37	1	192544965	192544965	+	Missense_Mutation	SNP	C	C	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:192544965C>T	ENST00000367459.3	+	1	109	c.43C>T	c.(43-45)Cca>Tca	p.P15S	RGS1_ENST00000469578.2_Missense_Mutation_p.P15S	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	15					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AGACAAAATGCCAGGAATGTT	0.433																																					p.P15S													RGS1_ENST00000367459,NS,carcinoma,-1,2	RGS1_ENST00000367459	-1	2	0			c.C43T												91.0	90.0	90.0					1																	192544965		2203	4300	6503	SO:0001583	missense	5996	exon1			AAAATGCCAGGAA	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.43C>T	1.37:g.192544965C>T	ENSP00000356429:p.Pro15Ser		107	0	0		113	0.04	5	NM_002922	28	0.00	0	B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776811	0.49786	.	.	ENSG00000090104	ENST00000367459	T	0.52983	0.64	6.08	6.08	0.98989	.	0.585543	0.17476	N	0.172907	T	0.62208	0.2409	L	0.32530	0.975	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.61520	-0.7046	10	0.72032	D	0.01	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	15;15	Q08116-2;Q08116	.;RGS1_HUMAN	S	15	ENSP00000356429:P15S	ENSP00000356429:P15S	P	+	1	0	RGS1	190811588	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.782000	0.55401	2.894000	0.99253	0.591000	0.81541	CCA			0.433	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086391.1		NM_002922	
MIR4666A	100616308	bcgsc.ca	37	1	228651817	228651817	+	RNA	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:228651817G>T	ENST00000580160.1	+	0	79					NR_039812.1				microRNA 4666a																		TACTCCAATTGAATCACAGGT	0.522																																					.													.	.			0			.																																											337872	.			CCAATTGAATCAC			1	2011-11-14	2011-11-14	2011-11-14		ENSG00000266174		"""ncRNAs / Micro RNAs"""	41750	non-coding RNA	RNA, micro			"""microRNA 4666"""	MIR4666			Standard	NR_039812		Approved	hsa-mir-4666	uc021pkh.1				1.37:g.228651817G>T			41	0	0		31	0.26	8	.	6	0.33	2		RNA	SNP	ENST00000580160.1	37																																																																																						0.522	MIR4666A-201	KNOWN	basic	miRNA	miRNA				NR_039812	
SIPA1L2	57568	mdanderson.org	37	1	232561342	232561342	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr1:232561342G>T	ENST00000366630.1	-	17	4981	c.4623C>A	c.(4621-4623)agC>agA	p.S1541R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1541R|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S615R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1541					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TACTTCTCAGGCTCCCCATGC	0.642																																					p.S1541R													.	.			0			c.C4623A												20.0	24.0	22.0					1																	232561342		2175	4277	6452	SO:0001583	missense	57568	exon16			TCTCAGGCTCCCC	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4623C>A	1.37:g.232561342G>T	ENSP00000355589:p.Ser1541Arg		36	0	0		37	0.08	3	NM_020808	188	0.00	0	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490327	0.44249	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.32988	1.43;1.43;1.43	5.03	4.11	0.48088	.	0.196488	0.53938	D	0.000042	T	0.22551	0.0544	L	0.47190	1.495	0.33527	D	0.593186	B;P	0.38504	0.351;0.634	B;B	0.31390	0.129;0.124	T	0.40232	-0.9574	10	0.54805	T	0.06	-25.675	8.0459	0.30549	0.2548:0.0:0.7452:0.0	.	1541;615	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	R	1541;1541;615	ENSP00000355589:S1541R;ENSP00000262861:S1541R;ENSP00000309102:S615R	ENSP00000262861:S1541R	S	-	3	2	SIPA1L2	230627965	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.519000	0.53458	1.475000	0.48197	0.650000	0.86243	AGC			0.642	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092318.1		XM_045839	
AKR1C4	1109	hgsc.bcm.edu	37	10	5242213	5242213	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr10:5242213G>T	ENST00000380448.1	+	4	407	c.154G>T	c.(154-156)Gct>Tct	p.A52S	AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Missense_Mutation_p.A52S			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	52					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						TATTGATTCTGCTTATTTATA	0.443																																					p.A52S													.	.			0			c.G154T												119.0	105.0	110.0					10																	5242213		2203	4300	6503	SO:0001583	missense	1109	exon2			GATTCTGCTTATT	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.154G>T	10.37:g.5242213G>T	ENSP00000369814:p.Ala52Ser		105	0	0		105	0.05	5	NM_001818	0		0	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497109	0.64186	.	.	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.79554	-1.28;-1.28	3.32	2.37	0.29283	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.102366	0.40302	N	0.001128	D	0.88415	0.6430	M	0.89601	3.045	0.25984	N	0.982334	P	0.40660	0.726	P	0.55345	0.774	T	0.81512	-0.0899	10	0.62326	D	0.03	.	9.8732	0.41187	0.0:0.0:0.795:0.205	.	52	P17516	AK1C4_HUMAN	S	52	ENSP00000369814:A52S;ENSP00000263126:A52S	ENSP00000263126:A52S	A	+	1	0	AKR1C4	5232213	1.000000	0.71417	0.002000	0.10522	0.196000	0.23810	6.134000	0.71689	0.453000	0.26858	0.591000	0.81541	GCT			0.443	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046543.2		NM_001818	
Unknown	0	bcgsc.ca	37	10	79493285	79493285	+	IGR	SNP	G	G	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr10:79493285G>A								KCNMA1 (94932 upstream) : RNU6-1266P (43423 downstream)																							TCCGCCCCAAGCACACATTCC	0.468																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			CCCCAAGCACACA																													10.37:g.79493285G>A			75	0	0		88	0.19	17	.	0		0		RNA	SNP		37																																																																																					0	0.468										
ABCC2	1244	hgsc.bcm.edu;mdanderson.org	37	10	101563999	101563999	+	Missense_Mutation	SNP	C	C	T	rs201399138		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr10:101563999C>T	ENST00000370449.4	+	10	1546	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	478	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.A478V(2)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCAATTAATGCGATACTGTCC	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		22246	0.0		0.0	False		,,,				2504	0.001				p.A478V													ABCC2,NS,carcinoma,0,2	ABCC2	0	2	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C1433T												180.0	166.0	171.0					10																	101563999		2203	4300	6503	SO:0001583	missense	1244	exon10			TTAATGCGATACT	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1433C>T	10.37:g.101563999C>T	ENSP00000359478:p.Ala478Val		102	0	0		80	0.05	4	NM_000392	1	0.00	0	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081611	0.36758	.	.	ENSG00000023839	ENST00000370449	D	0.90069	-2.61	5.41	-3.68	0.04463	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.260242	0.44688	D	0.000427	D	0.83445	0.5256	L	0.33093	0.98	0.80722	D	1	P	0.38729	0.644	B	0.39152	0.292	T	0.78471	-0.2191	10	0.66056	D	0.02	-9.3788	20.0389	0.97573	0.0575:0.6481:0.2944:0.0	.	478	Q92887	MRP2_HUMAN	V	478	ENSP00000359478:A478V	ENSP00000359478:A478V	A	+	2	0	ABCC2	101553989	0.002000	0.14202	0.013000	0.15412	0.761000	0.43186	-0.042000	0.12063	-0.442000	0.07190	-1.286000	0.01371	GCG	0.001		0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049825.1		NM_000392	
C10orf2	56652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	102753124	102753124	+	Missense_Mutation	SNP	C	C	G			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr10:102753124C>G	ENST00000311916.2	+	5	2097	c.1912C>G	c.(1912-1914)Ctc>Gtc	p.L638V	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	638					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAAGGCCCGGCTCAAGAAGAT	0.522																																					p.L638V													.	.			0			c.C1912G												122.0	128.0	126.0					10																	102753124		2203	4300	6503	SO:0001583	missense	56652	exon5			GCCCGGCTCAAGA	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1912C>G	10.37:g.102753124C>G	ENSP00000309595:p.Leu638Val		111	0	0		134	0.34	46	NM_021830	203	0.34	70	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930364	0.34096	.	.	ENSG00000107815	ENST00000311916	D	0.93906	-3.31	5.7	5.7	0.88788	.	0.068956	0.64402	D	0.000014	D	0.90978	0.7163	L	0.59436	1.845	0.80722	D	1	B	0.22276	0.067	B	0.18263	0.021	D	0.86830	0.2010	9	.	.	.	-8.2164	14.425	0.67210	0.0:0.8528:0.1472:0.0	.	638	Q96RR1	PEO1_HUMAN	V	638	ENSP00000309595:L638V	.	L	+	1	0	C10orf2	102743114	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.723000	0.47277	2.695000	0.91970	0.455000	0.32223	CTC			0.522	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049886.1		NM_021830	
OR52I2	143502	broad.mit.edu;mdanderson.org	37	11	4608061	4608061	+	Missense_Mutation	SNP	C	C	T	rs200571706		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:4608061C>T	ENST00000312614.4	+	1	41	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAAATCTTACGGGATTGCAT	0.413																																					p.R7W													OR52I2,caecum,carcinoma,0,1	OR52I2	50	1	0			c.C19T							C	TRP/ARG	0,4402		0,0,2201	71.0	60.0	64.0		19	-2.5	0.0	11		64	1,8595	1.2+/-3.3	0,1,4297	yes	missense	OR52I2	NM_001005170.2	101	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	7/351	4608061	1,12997	2201	4298	6499	SO:0001583	missense	143502	exon1			ATCTTACGGGATT	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.19C>T	11.37:g.4608061C>T	ENSP00000308764:p.Arg7Trp		94	0	0		68	0.06	4	NM_001005170	0		0	B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	7.398	0.632184	0.14322	0.0	1.16E-4	ENSG00000226288	ENST00000312614	T	0.00622	6.16	3.33	-2.54	0.06307	.	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46569	-0.9182	9	0.62326	D	0.03	.	0.9005	0.01273	0.1645:0.2588:0.1619:0.4148	.	7	Q8NH67	O52I2_HUMAN	W	7	ENSP00000308764:R7W	ENSP00000308764:R7W	R	+	1	2	OR52I2	4564637	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.358000	0.07641	-0.742000	0.04790	-0.319000	0.08680	CGG			0.413	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385946.1		NM_001005170	
ABTB2	25841	mdanderson.org	37	11	34186251	34186251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:34186251G>T	ENST00000435224.2	-	9	2394	c.1970C>A	c.(1969-1971)tCa>tAa	p.S657*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.S471*	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	657					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GTGGGCAGCTGAGTGGCTGAA	0.632																																					p.S657X													.	.			0			c.C1970A												68.0	55.0	59.0					11																	34186251		2202	4297	6499	SO:0001587	stop_gained	25841	exon9			GCAGCTGAGTGGC	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1970C>A	11.37:g.34186251G>T	ENSP00000410157:p.Ser657*		70	0	0		47	0.06	3	NM_145804	1	0.00	0	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Nonsense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	44	10.665454	0.99446	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.57	5.57	0.84162	.	0.062114	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-14.8983	19.5344	0.95244	0.0:0.0:1.0:0.0	.	.	.	.	X	657;471	.	ENSP00000298992:S471X	S	-	2	0	ABTB2	34142827	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	9.858000	0.99539	2.618000	0.88619	0.561000	0.74099	TCA			0.632	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388703.3		NM_145804	
PHF21A	51317	mdanderson.org	37	11	45955621	45955621	+	Silent	SNP	C	C	T	rs199802844	byFrequency	TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:45955621C>T	ENST00000418153.2	-	18	2140	c.1941G>A	c.(1939-1941)ccG>ccA	p.P647P	PHF21A_ENST00000323180.6_Silent_p.P601P|PHF21A_ENST00000257821.4_Silent_p.P648P			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	647	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GGGTGCAGTCCGGGCCATTGG	0.617													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13410	0.001		0.0	False		,,,				2504	0.0				p.P647P													.	.			0			c.G1941A							C	,	0,4404		0,0,2202	36.0	43.0	40.0		1941,1803	2.4	1.0	11		40	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	PHF21A	NM_001101802.1,NM_016621.3	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	647/681,601/635	45955621	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	51317	exon18			GCAGTCCGGGCCA	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1941G>A	11.37:g.45955621C>T			61	0	0		42	0.07	3	NM_001101802	93	0.00	0	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	CCDS44578.1																																																																																			0.001		0.617	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000392583.1		NM_016621	
PCNXL3	399909	mdanderson.org	37	11	65380778	65380778	+	5'Flank	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:65380778G>T	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Silent_p.P150P|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGTCCTCATCGGGGTCCTGGC	0.637																																					p.P150P													.	.			0			c.C450A																																									SO:0001631	upstream_gene_variant	4296	exon1			CTCATCGGGGTCC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380778G>T	Exception_encountered		72	0	0		42	0.07	3	NM_002419	60	0.00	0	Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																					0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390321.1		NM_032223	
KRTAP5-7	440050	ucsc.edu	37	11	71238418	71238418	+	Silent	SNP	T	T	C	rs201675734	byFrequency	TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:71238418T>C	ENST00000398536.4	+	1	106	c.72T>C	c.(70-72)tgT>tgC	p.C24C		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	24						keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GTGGGGGCTGTGGCTCTGGCT	0.662																																					p.C24C													.	KRTAP5-7	23		0			c.T72C												59.0	78.0	72.0					11																	71238418		2194	4284	6478	SO:0001819	synonymous_variant	440050	exon1			GGGCTGTGGCTCT	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.72T>C	11.37:g.71238418T>C			156	0.0833333333	13		118	0.21	25	NM_001012503	0		0	B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	CCDS41682.1																																																																																					0.662	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127953.1			
KIAA1731	85459	mdanderson.org	37	11	93433165	93433165	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:93433165G>T	ENST00000325212.6	+	15	5249	c.5087G>T	c.(5086-5088)aGt>aTt	p.S1696I	KIAA1731_ENST00000411936.1_Missense_Mutation_p.S1696I|KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000531700.1_Intron			Q9C0D2	K1731_HUMAN	KIAA1731	1696						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGACTTTTGAGTTTTTCACAG	0.418																																					p.S1696I													.	.			0			c.G5087T												93.0	84.0	87.0					11																	93433165		692	1591	2283	SO:0001583	missense	85459	exon15			TTTTGAGTTTTTC	AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.5087G>T	11.37:g.93433165G>T	ENSP00000316681:p.Ser1696Ile		91	0	0		49	0.06	3	NM_033395	17	0.00	0	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	ENST00000325212.6	37	CCDS44708.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337092	0.41398	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	T;T	0.22743	1.94;1.94	4.63	1.52	0.23074	.	0.359838	0.24174	N	0.040861	T	0.20901	0.0503	L	0.58810	1.83	0.09310	N	0.999995	P	0.39782	0.688	B	0.40534	0.332	T	0.12066	-1.0562	10	0.87932	D	0	.	8.0468	0.30553	0.0:0.4338:0.4058:0.1605	.	1696	Q9C0D2	K1731_HUMAN	I	1696	ENSP00000316681:S1696I;ENSP00000406505:S1696I	ENSP00000316681:S1696I	S	+	2	0	KIAA1731	93072813	0.036000	0.19791	0.232000	0.24009	0.663000	0.39108	0.862000	0.27899	1.115000	0.41800	0.557000	0.71058	AGT			0.418	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000394640.1		NM_033395	
BUD13	84811	mdanderson.org	37	11	116633328	116633328	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:116633328G>T	ENST00000260210.4	-	4	1000	c.977C>A	c.(976-978)cCt>cAt	p.P326H	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	326					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTTTCGTGGAGGAGAGATGTC	0.453																																					p.P326H													.	.			0			c.C977A												151.0	137.0	141.0					11																	116633328		2201	4296	6497	SO:0001583	missense	84811	exon4			CGTGGAGGAGAGA	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.977C>A	11.37:g.116633328G>T	ENSP00000260210:p.Pro326His		111	0	0		48	0.06	3	NM_032725	32	0.00	0	A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880436	0.72294	.	.	ENSG00000137656	ENST00000260210	T	0.20598	2.06	5.08	5.08	0.68730	.	0.048030	0.85682	D	0.000000	T	0.40171	0.1106	M	0.86864	2.845	0.58432	D	0.999997	D;D	0.61080	0.989;0.989	P;P	0.52309	0.695;0.695	T	0.44967	-0.9293	10	0.87932	D	0	-12.1406	10.7395	0.46145	0.0867:0.0:0.9133:0.0	.	326;326	A8K4Z6;Q9BRD0	.;BUD13_HUMAN	H	326	ENSP00000260210:P326H	ENSP00000260210:P326H	P	-	2	0	BUD13	116138538	0.993000	0.37304	0.999000	0.59377	0.964000	0.63967	2.285000	0.43487	2.631000	0.89168	0.655000	0.94253	CCT			0.453	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000104864.1		NM_032725	
VWA5A	4013	mdanderson.org	37	11	123988930	123988930	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:123988930G>T	ENST00000456829.2	+	5	532	c.281G>T	c.(280-282)gGc>gTc	p.G94V	VWA5A_ENST00000449321.1_Missense_Mutation_p.G94V|VWA5A_ENST00000360334.4_Missense_Mutation_p.G94V|VWA5A_ENST00000392744.4_Missense_Mutation_p.G110V|VWA5A_ENST00000361352.5_Missense_Mutation_p.G94V|VWA5A_ENST00000392748.1_Missense_Mutation_p.G94V	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	94	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATCTCCCAGGGCCACCAGGCC	0.567																																					p.G94V													.	.			0			c.G281T												52.0	54.0	53.0					11																	123988930		2201	4299	6500	SO:0001583	missense	4013	exon4			CCCAGGGCCACCA	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.281G>T	11.37:g.123988930G>T	ENSP00000407726:p.Gly94Val		171	0	0		69	0.07	5	NM_014622	5	0.00	0	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509961	0.85282	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.74	5.74	0.90152	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.046466	0.85682	D	0.000000	T	0.75766	0.3894	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.82981	-0.0187	10	0.87932	D	0	-15.7036	17.4029	0.87465	0.0:0.0:1.0:0.0	.	110;94	B4DHS6;O00534	.;VMA5A_HUMAN	V	94;94;94;94;94;94;94;110	ENSP00000407726:G94V;ENSP00000353485:G94V;ENSP00000376504:G94V;ENSP00000355070:G94V;ENSP00000404683:G94V;ENSP00000376501:G110V	ENSP00000353485:G94V	G	+	2	0	VWA5A	123494140	1.000000	0.71417	0.075000	0.20258	0.825000	0.46686	8.046000	0.89438	2.709000	0.92574	0.655000	0.94253	GGC			0.567	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387273.1		NM_014622	
GLB1L2	89944	mdanderson.org	37	11	134238570	134238570	+	Missense_Mutation	SNP	G	G	T	rs148929536		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr11:134238570G>T	ENST00000535456.2	+	10	1110	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	GLB1L2_ENST00000339772.7_Missense_Mutation_p.A308S|GLB1L2_ENST00000389881.3_Missense_Mutation_p.A308S|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	308					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CATTGTGGACGCCGGCTCCTC	0.532																																					p.A308S													.	.			0			c.G922T												86.0	79.0	81.0					11																	134238570		2201	4297	6498	SO:0001583	missense	89944	exon10			GTGGACGCCGGCT		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.922G>T	11.37:g.134238570G>T	ENSP00000444628:p.Ala308Ser		68	0	0		17	0.12	2	NM_138342	11	0.00	0	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.046|8.046	0.765037|0.765037	0.15914|0.15914	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089;ENST00000533324	D;D;D|.	0.98060|.	-4.69;-4.69;-4.69|.	5.19|5.19	3.06|3.06	0.35304|0.35304	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.609697|.	0.16373|.	N|.	0.217226|.	T|T	0.25644|0.25644	0.0624|0.0624	L|L	0.38733|0.38733	1.17|1.17	0.09310|0.09310	N|N	1|1	B|.	0.21309|.	0.054|.	B|.	0.22386|.	0.039|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.22706|.	T|.	0.39|.	-5.6342|-5.6342	0.7026|0.7026	0.00910|0.00910	0.2398:0.1849:0.3842:0.191|0.2398:0.1849:0.3842:0.191	.|.	308|.	Q8IW92|.	GLBL2_HUMAN|.	S|L	308|246;135	ENSP00000344659:A308S;ENSP00000444628:A308S;ENSP00000374531:A308S|.	ENSP00000344659:A308S|.	A|R	+|+	1|2	0|0	GLB1L2|GLB1L2	133743780|133743780	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.082000|0.082000	0.17680|0.17680	0.379000|0.379000	0.20585|0.20585	1.179000|1.179000	0.42884|0.42884	-0.140000|-0.140000	0.14226|0.14226	GCC|CGC			0.532	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393629.2		NM_138342	
ITPR2	3709	broad.mit.edu	37	12	26640046	26640046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:26640046delT	ENST00000381340.3	-	40	5925	c.5509delA	c.(5509-5511)aggfs	p.R1837fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1837					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCATCGTCCCTTTTTTTGTTA	0.358																																					p.R1837fs													.	ITPR2	270		0			c.5509delA												206.0	188.0	193.0					12																	26640046		1860	4102	5962	SO:0001589	frameshift_variant	3709	exon40			CGTCCCTTTTTTT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5509delA	12.37:g.26640046delT	ENSP00000370744:p.Arg1837fs		140	0	0		1267	0.01	7	NM_002223	94	0.00	0	O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	CCDS41764.1																																																																																					0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402732.1		NM_002223	
ARNTL2	56938	broad.mit.edu	37	12	27543058	27543058	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:27543058G>T	ENST00000266503.5	+	9	823	c.805G>T	c.(805-807)Gct>Tct	p.A269S	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Missense_Mutation_p.A232S|ARNTL2_ENST00000261178.5_Missense_Mutation_p.A221S|ARNTL2_ENST00000544915.1_Missense_Mutation_p.A235S|ARNTL2_ENST00000311001.5_Missense_Mutation_p.A255S|ARNTL2_ENST00000395901.2_Missense_Mutation_p.A232S|ARNTL2_ENST00000542388.1_Missense_Mutation_p.A184S			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	269					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TAATCTCCACGCTGGAAGGAC	0.408																																					p.A269S													.	ARNTL2	54		0			c.G805T												160.0	156.0	158.0					12																	27543058		2203	4300	6503	SO:0001583	missense	56938	exon9			CTCCACGCTGGAA	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.805G>T	12.37:g.27543058G>T	ENSP00000266503:p.Ala269Ser		125	0	0		1142	0.01	6	NM_020183	422	0.00	0	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	A	7.130	0.579626	0.13686	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	T;T;T;T;T;T;T	0.06528	3.43;3.43;3.29;3.42;3.42;3.43;3.43	3.55	1.11	0.20524	.	0.602903	0.16510	N	0.211289	T	0.06416	0.0165	L	0.58428	1.81	0.09310	N	1	B;B;B;B;B;B	0.17852	0.024;0.003;0.014;0.014;0.001;0.003	B;B;B;B;B;B	0.16289	0.015;0.006;0.015;0.015;0.004;0.01	T	0.46062	-0.9218	10	0.12430	T	0.62	.	7.7606	0.28951	0.4682:0.0:0.5318:0.0	.	232;235;232;221;255;269	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.;.;.;.;.;BMAL2_HUMAN	S	235;232;232;255;221;269;184	ENSP00000442438:A235S;ENSP00000379238:A232S;ENSP00000438545:A232S;ENSP00000312247:A255S;ENSP00000261178:A221S;ENSP00000266503:A269S;ENSP00000445836:A184S	ENSP00000261178:A221S	A	+	1	0	ARNTL2	27434325	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.122000	0.10627	-0.146000	0.11274	-0.982000	0.02568	GCT			0.408	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000403162.1		NM_020183	
DDX11	1663	broad.mit.edu	37	12	31238044	31238044	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:31238044delA	ENST00000407793.2	+	5	873	c.622delA	c.(622-624)aaafs	p.K209fs	DDX11_ENST00000251758.5_Frame_Shift_Del_p.K209fs|DDX11_ENST00000545668.1_Frame_Shift_Del_p.K209fs|DDX11_ENST00000350437.4_Frame_Shift_Del_p.K209fs|DDX11_ENST00000542838.1_Frame_Shift_Del_p.K209fs|DDX11_ENST00000228264.6_Frame_Shift_Del_p.K183fs	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	209	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGAGGAGAAAAAGGTGGC	0.617										Multiple Myeloma(12;0.14)																											p.K208fs													.	DDX11	188		0			c.622delA												31.0	31.0	31.0					12																	31238044		2194	4282	6476	SO:0001589	frameshift_variant	1663	exon5			GAGGAGAAAAAGG	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.622delA	12.37:g.31238044delA	ENSP00000384703:p.Lys209fs		307	0	0		1932	0.00	8	NM_030653	1067	0.00	0	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Frame_Shift_Del	DEL	ENST00000407793.2	37	CCDS44856.1																																																																																					0.617	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1		NM_030653	
FAM186A	121006	mdanderson.org	37	12	50748635	50748635	+	Silent	SNP	T	T	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:50748635T>C	ENST00000327337.5	-	4	1979	c.1980A>G	c.(1978-1980)ccA>ccG	p.P660P	FAM186A_ENST00000543111.1_Silent_p.P660P	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	660																	TTTTGCCATCTGGACTTTCTA	0.378																																					p.P660P	NSCLC(138;1796 1887 12511 19463 37884)												.	.			0			c.A1980G												42.0	33.0	36.0					12																	50748635		692	1591	2283	SO:0001819	synonymous_variant	121006	exon4			GCCATCTGGACTT		CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.1980A>G	12.37:g.50748635T>C			59	0	0		44	0.07	3	NM_001145475	1	0.00	0		Silent	SNP	ENST00000327337.5	37	CCDS44878.1																																																																																					0.378	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000396838.1		XM_001718353	
CPSF6	11052	mdanderson.org	37	12	69653285	69653285	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:69653285G>T	ENST00000435070.2	+	7	1387	c.1277G>T	c.(1276-1278)aGc>aTc	p.S426I	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.S353I|CPSF6_ENST00000266679.8_Missense_Mutation_p.S463I	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	426					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GCAATCTCAAGCAGTGCTATT	0.343																																					p.S426I													.	.			0			c.G1277T												192.0	187.0	189.0					12																	69653285		2203	4300	6503	SO:0001583	missense	11052	exon7			TCTCAAGCAGTGC	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1277G>T	12.37:g.69653285G>T	ENSP00000391774:p.Ser426Ile		50	0	0		49	0.06	3	NM_007007	339	0.00	0	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317285	0.60524	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	D;D;D	0.88354	-2.37;-2.37;-2.37	5.57	5.57	0.84162	.	0.077095	0.85682	D	0.000000	D	0.93989	0.8075	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.91635	0.999;0.999;0.979	D	0.92865	0.6309	9	.	.	.	-7.324	19.94	0.97155	0.0:0.0:1.0:0.0	.	174;463;426	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	I	426;353;463	ENSP00000391774:S426I;ENSP00000391437:S353I;ENSP00000266679:S463I	.	S	+	2	0	CPSF6	67939552	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.515000	0.81761	2.793000	0.96121	0.563000	0.77884	AGC			0.343	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403609.1		NM_007007	
LINC01481	101928062	broad.mit.edu	37	12	70508234	70508236	+	RNA	DEL	ACA	ACA	-	rs78489014|rs143408410|rs572594591		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	ACA	ACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:70508234_70508236delACA	ENST00000549419.1	-	0	144																											tataatagctacaacaacaacaa	0.305																																					.													.	.			0			.																																											0	.			ATAGCTACAACAA																													12.37:g.70508243_70508245delACA			4	0	0		7	1.00	7	.	0		0		RNA	DEL	ENST00000549419.1	37																																																																																						0.305	RP11-611E13.2-001	KNOWN	basic	antisense	antisense		OTTHUMT00000404075.1			
DDX54	79039	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	113617043	113617043	+	Missense_Mutation	SNP	G	G	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr12:113617043G>A	ENST00000306014.5	-	4	496	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	Y_RNA_ENST00000364338.1_RNA|DDX54_ENST00000314045.7_Missense_Mutation_p.R157W	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	157	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCTTGAGCCGCTCGAACATT	0.647																																					p.R157W													DDX54,NS,carcinoma,0,1	DDX54	0	1	0			c.C469T												43.0	42.0	42.0					12																	113617043		2203	4300	6503	SO:0001583	missense	79039	exon4			TGAGCCGCTCGAA	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.469C>T	12.37:g.113617043G>A	ENSP00000304072:p.Arg157Trp		68	0	0		66	0.29	19	NM_024072	231	0.36	83	Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244711	0.79912	.	.	ENSG00000123064	ENST00000314045;ENST00000306014;ENST00000552375	T;T;T	0.15952	2.38;2.38;2.38	5.48	3.45	0.39498	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.186306	0.43919	D	0.000516	T	0.39682	0.1087	M	0.80616	2.505	0.46028	D	0.998824	D;D	0.69078	0.997;0.997	P;P	0.62382	0.888;0.901	T	0.45585	-0.9251	10	0.87932	D	0	.	13.1141	0.59289	0.0:0.0:0.5587:0.4413	.	157;157	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	W	157;157;74	ENSP00000323858:R157W;ENSP00000304072:R157W;ENSP00000448477:R74W	ENSP00000304072:R157W	R	-	1	2	DDX54	112101426	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.673000	0.46858	1.289000	0.44618	0.462000	0.41574	CGG			0.647	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000405435.1		NM_024072	
FKBP3	2287	bcgsc.ca	37	14	45590789	45590789	+	Missense_Mutation	SNP	T	T	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr14:45590789T>C	ENST00000216330.3	-	5	763	c.353A>G	c.(352-354)aAg>aGg	p.K118R	FKBP3_ENST00000396062.3_Missense_Mutation_p.K118R			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	118					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TTTATCTCCCTTTTTCAGAAC	0.338																																					p.K118R													.	FKBP3	21		0			c.A353G												119.0	111.0	114.0					14																	45590789		2203	4300	6503	SO:0001583	missense	2287	exon4			TCTCCCTTTTTCA	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"""FK506-binding protein 3 (25kD)"""			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.353A>G	14.37:g.45590789T>C	ENSP00000216330:p.Lys118Arg		71	0	0		40	0.10	4	NM_002013	301	0.00	0	B2R4Q9|Q14317	Missense_Mutation	SNP	ENST00000216330.3	37	CCDS9683.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552847	0.86127	.	.	ENSG00000100442	ENST00000216330;ENST00000396062	T;T	0.54866	0.55;0.55	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	M	0.67397	2.05	0.58432	D	0.999997	D	0.59767	0.986	P	0.49665	0.618	T	0.64279	-0.6445	10	0.51188	T	0.08	-2.7609	16.4837	0.84171	0.0:0.0:0.0:1.0	.	118	Q00688	FKBP3_HUMAN	R	118	ENSP00000216330:K118R;ENSP00000379374:K118R	ENSP00000216330:K118R	K	-	2	0	FKBP3	44660539	1.000000	0.71417	0.991000	0.47740	0.911000	0.54048	5.987000	0.70571	2.371000	0.80710	0.533000	0.62120	AAG			0.338	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276796.1		NM_002013	
ZFYVE26	23503	mdanderson.org	37	14	68221866	68221866	+	Missense_Mutation	SNP	C	C	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr14:68221866C>A	ENST00000347230.4	-	37	7026	c.6888G>T	c.(6886-6888)aaG>aaT	p.K2296N	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.K142N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2296					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCAGGTGGTCCTTGGCCTTAA	0.478																																					p.K2296N													.	.			0			c.G6888T												183.0	152.0	163.0					14																	68221866		2203	4300	6503	SO:0001583	missense	23503	exon37			GTGGTCCTTGGCC	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6888G>T	14.37:g.68221866C>A	ENSP00000251119:p.Lys2296Asn		119	0.0084033613	1		60	0.08	5	NM_015346	83	0.00	0	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421974	0.62622	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.50813	1.53;0.73	5.61	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.982;0.997	T	0.64757	-0.6332	10	0.72032	D	0.01	-26.8112	10.4355	0.44433	0.0:0.852:0.0:0.148	.	142;2296	Q96H43;Q68DK2	.;ZFY26_HUMAN	N	2296;2275;142	ENSP00000251119:K2296N;ENSP00000452142:K142N	ENSP00000251119:K2296N	K	-	3	2	ZFYVE26	67291619	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.842000	0.48230	1.374000	0.46228	0.462000	0.41574	AAG			0.478	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412736.2		NM_015346	
MGA	23269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	42003218	42003218	+	Missense_Mutation	SNP	T	T	G			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr15:42003218T>G	ENST00000570161.1	+	7	2755	c.2755T>G	c.(2755-2757)Tta>Gta	p.L919V	MGA_ENST00000566586.1_Missense_Mutation_p.L919V|MGA_ENST00000219905.7_Missense_Mutation_p.L919V|MGA_ENST00000389936.4_Missense_Mutation_p.L919V|MGA_ENST00000545763.1_Missense_Mutation_p.L919V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAATCCATTTTACCATACCC	0.403																																					p.L919V													.	.			0			c.T2755G												140.0	138.0	139.0					15																	42003218		1856	4098	5954	SO:0001583	missense	23269	exon8			TCCATTTTACCAT	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2755T>G	15.37:g.42003218T>G	ENSP00000457035:p.Leu919Val		86	0	0		117	0.24	28	NM_001080541	28	0.21	6	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.102938	0.56183	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.15603	2.41;2.41;2.41	6.08	6.08	0.98989	.	0.791425	0.11028	N	0.607624	T	0.13841	0.0335	N	0.24115	0.695	0.25320	N	0.98913	B;P	0.41159	0.335;0.74	B;B	0.42245	0.188;0.381	T	0.20940	-1.0260	10	0.66056	D	0.02	.	5.4421	0.16515	0.1329:0.1333:0.0:0.7337	.	919;919	F5H7K2;E7ENI0	.;.	V	919	ENSP00000219905:L919V;ENSP00000374586:L919V;ENSP00000442467:L919V	ENSP00000219905:L919V	L	+	1	2	MGA	39790510	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.089000	0.41672	2.333000	0.79357	0.533000	0.62120	TTA			0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000420229.1		NM_001164273.1	
CEMIP	57214	broad.mit.edu	37	15	81217004	81217004	+	Missense_Mutation	SNP	T	T	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr15:81217004T>C	ENST00000394685.3	+	18	2664	c.2245T>C	c.(2245-2247)Tct>Cct	p.S749P	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.S749P|KIAA1199_ENST00000356249.5_Missense_Mutation_p.S749P			Q8WUJ3	CEMIP_HUMAN		749					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CACCGAGGCCTCTGCCAAGGA	0.537																																					p.S749P													.	KIAA1199	118		0			c.T2245C												129.0	105.0	113.0					15																	81217004		2203	4300	6503	SO:0001583	missense	57214	exon17			GAGGCCTCTGCCA																												ENST00000394685.3:c.2245T>C	15.37:g.81217004T>C	ENSP00000378177:p.Ser749Pro		92	0	0		125	0.04	5	NM_018689	0		0	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.851020	0.71719	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.56941	0.43;0.43;0.43	5.12	5.12	0.69794	Pectin lyase fold/virulence factor (1);	0.142433	0.42548	D	0.000681	T	0.61899	0.2384	M	0.62723	1.935	0.35610	D	0.808547	D	0.64830	0.994	P	0.58077	0.832	T	0.69774	-0.5054	10	0.36615	T	0.2	-18.7643	10.4466	0.44497	0.1455:0.0:0.0:0.8545	.	749	Q8WUJ3	K1199_HUMAN	P	749	ENSP00000220244:S749P;ENSP00000378177:S749P;ENSP00000348583:S749P	ENSP00000220244:S749P	S	+	1	0	KIAA1199	79004059	0.998000	0.40836	1.000000	0.80357	0.633000	0.38033	4.924000	0.63418	2.044000	0.60594	0.482000	0.46254	TCT			0.537	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000291389.1			
RHBDF1	64285	mdanderson.org	37	16	109430	109430	+	Missense_Mutation	SNP	G	G	A	rs375953787		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:109430G>A	ENST00000262316.6	-	15	2022	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	627					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGAGCAGAGCGTGGCCTCCTC	0.582																																					p.T627M													.	.			0			c.C1880T							G	MET/THR	1,4405		0,1,2202	107.0	87.0	94.0		1880	5.4	1.0	16		94	0,8600		0,0,4300	no	missense	RHBDF1	NM_022450.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	627/856	109430	1,13005	2203	4300	6503	SO:0001583	missense	64285	exon15			CAGAGCGTGGCCT	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1880C>T	16.37:g.109430G>A	ENSP00000262316:p.Thr627Met		62	0	0		48	0.06	3	NM_022450	56	0.00	0	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.50|19.50	3.839769|3.839769	0.71488|0.71488	2.27E-4|2.27E-4	0.0|0.0	ENSG00000007384|ENSG00000007384	ENST00000448893|ENST00000262316	.|T	.|0.53423	.|0.62	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62539|0.62539	0.2436|0.2436	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.71656	.|0.974	T|T	0.64829|0.64829	-0.6315|-0.6315	5|10	.|0.87932	.|D	.|0	-12.8458|-12.8458	18.1216|18.1216	0.89573|0.89573	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|627	.|Q96CC6	.|RHDF1_HUMAN	C|M	32|627	.|ENSP00000262316:T627M	.|ENSP00000262316:T627M	R|T	-|-	1|2	0|0	RHBDF1|RHBDF1	49430|49430	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.670000|0.670000	0.39368|0.39368	5.574000|5.574000	0.67424|0.67424	2.537000|2.537000	0.85549|0.85549	0.655000|0.655000	0.94253|0.94253	CGC|ACG			0.582	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000134178.2		NM_022450	
HAGH	3029	mdanderson.org	37	16	1859331	1859331	+	Missense_Mutation	SNP	G	G	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:1859331G>A	ENST00000397356.3	-	9	1286	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	HAGH_ENST00000567398.1_5'UTR|HAGH_ENST00000566709.1_3'UTR|HAGH_ENST00000455446.2_3'UTR|HAGH_ENST00000397353.2_Missense_Mutation_p.R246W	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	294					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CGCACGGCCCGCATGGTGGTC	0.662																																					p.R294W	Pancreas(55;1048 1176 25227 40124 41333)												HAGH,bladder,carcinoma,+1,1	HAGH	1	1	0			c.C880T												115.0	101.0	106.0					16																	1859331		2199	4300	6499	SO:0001583	missense	3029	exon9			CGGCCCGCATGGT	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"""hydroxyacyl glutathione hydrolase"""			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.880C>T	16.37:g.1859331G>A	ENSP00000380514:p.Arg294Trp		32	0	0		36	0.08	3	NM_005326	149	0.00	0	A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194334	0.38806	.	.	ENSG00000063854	ENST00000397356;ENST00000397353	D;D	0.95554	-3.74;-3.74	4.98	0.0148	0.14101	.	0.154224	0.56097	D	0.000029	D	0.95623	0.8577	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	P	0.54270	0.747	D	0.93369	0.6733	10	0.72032	D	0.01	-12.8509	10.5825	0.45263	0.0:0.0773:0.3681:0.5546	.	294	Q16775	GLO2_HUMAN	W	294;246	ENSP00000380514:R294W;ENSP00000380511:R246W	ENSP00000380511:R246W	R	-	1	2	HAGH	1799332	0.591000	0.26824	0.937000	0.37676	0.002000	0.02628	-0.230000	0.09083	-0.506000	0.06558	-3.073000	0.00066	CGG			0.662	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250548.2		NM_005326	
CASKIN1	57524	mdanderson.org	37	16	2231335	2231335	+	Silent	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:2231335G>T	ENST00000343516.6	-	18	2126	c.2034C>A	c.(2032-2034)ccC>ccA	p.P678P	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	678					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTGGCTGGAGGGCTTCTCAG	0.677																																					p.P678P													.	.			0			c.C2034A												13.0	19.0	17.0					16																	2231335		2015	4150	6165	SO:0001819	synonymous_variant	57524	exon18			GCTGGAGGGCTTC	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.2034C>A	16.37:g.2231335G>T			29	0	0		26	0.12	3	NM_020764	28	0.00	0	Q9P2P0	Silent	SNP	ENST00000343516.6	37	CCDS42103.1																																																																																					0.677	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435055.1		NM_020764	
ATXN2L	11273	mdanderson.org	37	16	28846413	28846413	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:28846413G>T	ENST00000336783.4	+	19	2635	c.2468G>T	c.(2467-2469)cGc>cTc	p.R823L	ATXN2L_ENST00000564304.1_Missense_Mutation_p.R829L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R823L|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R823L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R823L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R823L|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R823L|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	823					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGCAACCCACGCATGCTGACG	0.627																																					p.R823L													.	.			0			c.G2468T												107.0	93.0	98.0					16																	28846413		2197	4299	6496	SO:0001583	missense	11273	exon19			ACCCACGCATGCT		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2468G>T	16.37:g.28846413G>T	ENSP00000338718:p.Arg823Leu		51	0	0		55	0.05	3	NM_148416	846	0.00	0	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	33	5.209715	0.95069	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.61980	0.12;0.06;0.08;0.11;0.12	5.17	5.17	0.71159	.	0.084454	0.49916	D	0.000136	T	0.73489	0.3593	L	0.52573	1.65	0.53005	D	0.999962	D;D;D;D;D;D;D	0.67145	0.996;0.993;0.993;0.996;0.996;0.993;0.996	D;P;P;D;D;P;D	0.65684	0.937;0.867;0.867;0.937;0.937;0.867;0.937	T	0.72337	-0.4324	10	0.44086	T	0.13	-10.1468	17.609	0.88047	0.0:0.0:1.0:0.0	.	823;823;823;823;823;823;823	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	L	823	ENSP00000341459:R823L;ENSP00000378917:R823L;ENSP00000338718:R823L;ENSP00000372133:R823L;ENSP00000315650:R823L	ENSP00000315650:R823L	R	+	2	0	ATXN2L	28753914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.523000	0.81856	2.700000	0.92200	0.563000	0.77884	CGC			0.627	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000214139.1		NM_007245	
IGHV3OR16-15	28301	bcgsc.ca	37	16	32914986	32914986	+	IGR	SNP	G	G	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:32914986G>A								RP11-989E6.3 (15037 upstream) : RP11-19N8.2 (48327 downstream)																							AGACTCTCCTGTGCAGCCTCT	0.567																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			TCTCCTGTGCAGC																													16.37:g.32914986G>A			22	0	0		7	0.71	5	.	8	0.00	0		RNA	SNP		37																																																																																					0	0.567										
NPIPB15	440348	bcgsc.ca	37	16	74425793	74425793	+	Missense_Mutation	SNP	T	T	C	rs199839508		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:74425793T>C	ENST00000429990.1	+	7	1243	c.1147T>C	c.(1147-1149)Tcg>Ccg	p.S383P				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	383						extracellular region (GO:0005576)											GGTGGAACAATCGCCCAAGCC	0.582																																					.													.	.			0			.												24.0	28.0	26.0					16																	74425793		1957	4149	6106	SO:0001583	missense	440348	.			GAACAATCGCCCA	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.1147T>C	16.37:g.74425793T>C	ENSP00000411140:p.Ser383Pro		305	0.0295081967	9		277	0.06	18	.	150	0.00	0	C9J9U8	Missense_Mutation	SNP	ENST00000429990.1	37		.	.	.	.	.	.	.	.	.	.	t	10.75	1.438646	0.25900	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.52295	0.67	.	.	.	.	.	.	.	.	T	0.27798	0.0684	N	0.24115	0.695	0.20489	N	0.999895	B	0.06786	0.001	B	0.06405	0.002	T	0.17198	-1.0377	8	0.30854	T	0.27	.	4.4758	0.11739	0.0:8.0E-4:0.0:0.9992	.	322	A6NHN6	NPPL2_HUMAN	P	247;383	ENSP00000411140:S383P	ENSP00000411140:S383P	S	+	1	0	NPIPL2	72983294	.	.	0.011000	0.14972	0.011000	0.07611	.	.	0.000000	0.14550	0.000000	0.15137	TCG			0.582	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000346597.2		NM_001018059	
ANKRD11	29123	mdanderson.org	37	16	89341536	89341536	+	Silent	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr16:89341536G>T	ENST00000301030.4	-	10	7994	c.7534C>A	c.(7534-7536)Cgg>Agg	p.R2512R	ANKRD11_ENST00000378330.2_Silent_p.R2512R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2512					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTTTCCCCGGACGGCCTCC	0.687																																					p.R2512R													.	.			0			c.C7534A												27.0	23.0	24.0					16																	89341536		2196	4300	6496	SO:0001819	synonymous_variant	29123	exon10			TTCCCCGGACGGC	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7534C>A	16.37:g.89341536G>T			44	0	0		43	0.07	3	NM_013275	277	0.00	0	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																					0.687	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275	
NLRP1	22861	mdanderson.org	37	17	5436697	5436697	+	Silent	SNP	C	C	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr17:5436697C>A	ENST00000572272.1	-	10	3059	c.3060G>T	c.(3058-3060)gcG>gcT	p.A1020A	NLRP1_ENST00000269280.4_Silent_p.A1020A|NLRP1_ENST00000345221.3_Silent_p.A1020A|NLRP1_ENST00000354411.3_Silent_p.A990A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.A1020A|NLRP1_ENST00000577119.1_Silent_p.A990A			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1020					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				catgggaagccgccctctcta	0.527																																					p.A1020A													.	.			0			c.G3060T												61.0	55.0	57.0					17																	5436697		1327	2309	3636	SO:0001819	synonymous_variant	22861	exon10			GGAAGCCGCCCTC	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3060G>T	17.37:g.5436697C>A			30	0	0		34	0.09	3	NM_014922	20	0.00	0	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																					0.527	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000439517.1		NM_033004	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|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		191	0.0680628272	13		145	0.04	6	NM_145301	155	0.59	92	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	
MPRIP	23164	mdanderson.org	37	17	17079783	17079783	+	Missense_Mutation	SNP	A	A	G			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr17:17079783A>G	ENST00000341712.4	+	20	2753	c.2753A>G	c.(2752-2754)cAg>cGg	p.Q918R	MPRIP_ENST00000444976.1_Missense_Mutation_p.Q880R|RN7SL775P_ENST00000498361.2_RNA|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395811.5_Missense_Mutation_p.Q918R|MPRIP_ENST00000395804.3_Missense_Mutation_p.Q918R			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	918						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TACCTGAAACAGGAGATTAGC	0.527																																					p.Q918R													.	.			0			c.A2753G												132.0	136.0	134.0					17																	17079783		2203	4300	6503	SO:0001583	missense	23164	exon20			TGAAACAGGAGAT	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2753A>G	17.37:g.17079783A>G	ENSP00000342379:p.Gln918Arg		35	0	0		33	0.09	3	NM_015134	163	0.00	0	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.378307|4.378307	0.82682|0.82682	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712;ENST00000429184|ENST00000414263	T;T;T;T|.	0.25749|.	1.78;2.09;2.1;2.1|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.128425|.	0.53938|.	D|.	0.000059|.	T|T	0.64023|0.64023	0.2561|0.2561	L|L	0.54323|0.54323	1.7|1.7	0.54753|0.54753	D|D	0.999988|0.999988	D;D;D;P;D|.	0.89917|.	0.985;0.994;1.0;0.528;0.993|.	D;D;D;P;D|.	0.87578|.	0.921;0.983;0.998;0.651;0.966|.	T|T	0.62826|0.62826	-0.6772|-0.6772	10|5	0.28530|.	T|.	0.3|.	-18.7986|-18.7986	14.3035|14.3035	0.66371|0.66371	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	917;880;1282;918;918|.	B9EGI2;Q6WCQ1-3;Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.	.;.;.;.;MPRIP_HUMAN|.	R|G	880;918;918;918;74|984	ENSP00000400189:Q880R;ENSP00000379156:Q918R;ENSP00000379149:Q918R;ENSP00000342379:Q918R|.	ENSP00000342379:Q918R|.	Q|R	+|+	2|1	0|2	MPRIP|MPRIP	17020508|17020508	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.893000|0.893000	0.52053|0.52053	9.256000|9.256000	0.95535|0.95535	1.780000|1.780000	0.52325|0.52325	0.459000|0.459000	0.35465|0.35465	CAG|AGG			0.527	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000131587.1		NM_015134	
LRRC37B	114659	mdanderson.org	37	17	30349013	30349013	+	Missense_Mutation	SNP	A	A	G			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr17:30349013A>G	ENST00000341671.7	+	1	853	c.848A>G	c.(847-849)gAa>gGa	p.E283G	LRRC37B_ENST00000394713.3_Missense_Mutation_p.E283G|LRRC37B_ENST00000327564.7_Missense_Mutation_p.E310G|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E201G|LRRC37B_ENST00000584368.1_Missense_Mutation_p.E295G	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	283						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTCCAGGAAGAAGCCCCAGCG	0.542																																					p.E283G													.	.			0			c.A848G												54.0	66.0	62.0					17																	30349013		2202	4293	6495	SO:0001583	missense	114659	exon1			AGGAAGAAGCCCC	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.848A>G	17.37:g.30349013A>G	ENSP00000340519:p.Glu283Gly		51	0	0		42	0.07	3	NM_052888	22	0.00	0	Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	12.84	2.057772	0.36277	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.72835	-0.67;-0.67;0.43;-0.69	1.98	0.747	0.18371	.	.	.	.	.	T	0.80144	0.4569	M	0.81341	2.54	0.09310	N	1	D;D	0.76494	0.992;0.999	P;D	0.75484	0.486;0.986	T	0.65409	-0.6175	9	0.56958	D	0.05	.	3.8719	0.09041	0.6716:0.0:0.0:0.3284	.	283;283	Q17RC9;Q96QE4	.;LR37B_HUMAN	G	201;310;283;283	ENSP00000443345:E201G;ENSP00000332536:E310G;ENSP00000378202:E283G;ENSP00000340519:E283G	ENSP00000332536:E310G	E	+	2	0	LRRC37B	27373126	0.016000	0.18221	0.002000	0.10522	0.081000	0.17604	3.010000	0.49559	0.159000	0.19401	0.156000	0.16432	GAA			0.542	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000446508.1		NM_052888	
TCF3	6929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	1612333	1612333	+	Missense_Mutation	SNP	A	A	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:1612333A>C	ENST00000344749.5	-	18	1752	c.1686T>G	c.(1684-1686)atT>atG	p.I562M	TCF3_ENST00000395423.3_Intron|TCF3_ENST00000453954.2_Missense_Mutation_p.I477M|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Missense_Mutation_p.I562M	NM_001136139.2	NP_001129611.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCTCGTTAATATCCCGCA	0.642			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																p.I562M				Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	.			0			c.T1686G												74.0	70.0	71.0					19																	1612333		1568	3582	5150	SO:0001583	missense	6929	exon17			CTCGTTAATATCC	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000344749.5:c.1686T>G	19.37:g.1612333A>C	ENSP00000344375:p.Ile562Met		157	0	0		145	0.27	39	NM_001136139	124	0.55	68	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000344749.5	37	CCDS45899.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515115	0.64634	.	.	ENSG00000071564	ENST00000344749;ENST00000453954	D	0.98876	-5.2	4.63	2.3	0.28687	.	.	.	.	.	D	0.98654	0.9549	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97974	1.0345	8	0.87932	D	0	.	4.5199	0.11954	0.6155:0.0:0.0847:0.2999	.	562	P15923-2	.	M	562	ENSP00000344375:I562M	ENSP00000344375:I562M	I	-	3	3	TCF3	1563333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.957000	0.29215	0.695000	0.31675	0.459000	0.35465	ATT			0.642	TCF3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000449375.1		NM_003200	
MYO9B	4650	mdanderson.org	37	19	17316915	17316915	+	Silent	SNP	G	G	T	rs367648233		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:17316915G>T	ENST00000594824.1	+	32	5358	c.5211G>T	c.(5209-5211)tcG>tcT	p.S1737S	CTD-3032J10.3_ENST00000601929.1_RNA|MYO9B_ENST00000595618.1_Silent_p.S1737S|MYO9B_ENST00000397274.2_Silent_p.S1737S			Q13459	MYO9B_HUMAN	myosin IXB	1737	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACCGCAAGTCGGGTGCTGCCA	0.687																																					p.S1737S													.	.			0			c.G5211T												31.0	37.0	35.0					19																	17316915		2131	4236	6367	SO:0001819	synonymous_variant	4650	exon32			CAAGTCGGGTGCT		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5211G>T	19.37:g.17316915G>T			50	0	0		43	0.07	3	NM_001130065	112	0.00	0	O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37																																																																																						0.687	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000463236.1			
ANKLE1	126549	broad.mit.edu	37	19	17397500	17397501	+	3'UTR	DEL	TT	TT	-	rs71180380|rs563327402|rs534658778|rs1465582	byFrequency	TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:17397500_17397501delTT	ENST00000394458.3	+	0	2263_2264				ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000598347.1_Frame_Shift_Del_p.L591fs|ANKLE1_ENST00000404085.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1											large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						tgtgtgtgtgtttgtgtgtgtg	0.53																																					.													.	ANKLE1	27		0			.																																									SO:0001624	3_prime_UTR_variant	126549	.			TGTGTGTTTGTGT	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.*140TT>-	19.37:g.17397500_17397501delTT			13	0	0		14	0.93	13	.	4	0.00	0	A8VU82|Q8N8J8	Frame_Shift_Del	DEL	ENST00000394458.3	37	CCDS12354.2																																																																																					0.530	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325392.2		NM_152363	
C19orf54	284325	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	41250532	41250532	+	Missense_Mutation	SNP	A	A	G			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:41250532A>G	ENST00000378313.2	-	3	568	c.449T>C	c.(448-450)gTc>gCc	p.V150A	C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000598485.2_Silent_p.R19R|C19orf54_ENST00000598729.1_Silent_p.R19R|C19orf54_ENST00000470681.1_Missense_Mutation_p.V12A|C19orf54_ENST00000339153.3_Silent_p.R19R	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	150										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCCAGGGGGACGCCACTGGG	0.622																																					p.V150A													.	C19orf54	13		0			c.T449C												67.0	54.0	58.0					19																	41250532		2203	4300	6503	SO:0001583	missense	284325	exon3			AGGGGGACGCCAC	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.449T>C	19.37:g.41250532A>G	ENSP00000367564:p.Val150Ala		77	0.012987013	1		74	0.05	4	NM_198476	91	0.00	0	A8MSZ5|B4DNU7	Missense_Mutation	SNP	ENST00000378313.2	37	CCDS12564.2	.	.	.	.	.	.	.	.	.	.	A	11.12	1.546626	0.27652	.	.	ENSG00000188493	ENST00000378313	.	.	.	5.83	2.59	0.31030	.	1.387930	0.05633	U	0.581992	T	0.33323	0.0859	L	0.29908	0.895	0.19300	N	0.999977	B;B	0.24823	0.112;0.037	B;B	0.20955	0.032;0.013	T	0.29518	-1.0009	9	0.48119	T	0.1	-0.1077	8.3667	0.32391	0.6901:0.0:0.3099:0.0	.	12;150	Q6ZWG5;Q5BKX5	.;CS054_HUMAN	A	150	.	ENSP00000367564:V150A	V	-	2	0	C19orf54	45942372	0.264000	0.24093	0.048000	0.18961	0.553000	0.35397	4.315000	0.59172	0.129000	0.18514	0.533000	0.62120	GTC			0.622	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316701.1		NM_198476	
MYH14	79784	mdanderson.org	37	19	50760599	50760599	+	Silent	SNP	C	C	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:50760599C>T	ENST00000596571.1	+	15	1965	c.1965C>T	c.(1963-1965)gaC>gaT	p.D655D	MYH14_ENST00000440075.2_Silent_p.D696D|MYH14_ENST00000262269.8_Silent_p.D696D|MYH14_ENST00000425460.1_Silent_p.D663D|MYH14_ENST00000376970.2_Silent_p.D688D|MYH14_ENST00000601313.1_Silent_p.D696D|MYH14_ENST00000598205.1_Silent_p.D663D			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	655	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCTGGGCGACGGCCCACCAG	0.627																																					p.D696D													.	.			0			c.C2088T												17.0	21.0	19.0					19																	50760599		1961	4149	6110	SO:0001819	synonymous_variant	79784	exon18			GGGCGACGGCCCA	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1965C>T	19.37:g.50760599C>T			44	0	0		44	0.07	3	NM_001145809	36	0.00	0	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	CCDS59411.1																																																																																					0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464710.2		NM_024729	
SHANK1	50944	mdanderson.org	37	19	51172415	51172415	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:51172415G>T	ENST00000293441.1	-	22	2820	c.2802C>A	c.(2800-2802)agC>agA	p.S934R	SHANK1_ENST00000391813.1_Missense_Mutation_p.S321R|SHANK1_ENST00000391814.1_Missense_Mutation_p.S942R|SHANK1_ENST00000359082.3_Missense_Mutation_p.S925R|SYT3_ENST00000544769.1_5'Flank	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	934					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTGGAGGTGTGCTGTAGGGAG	0.697																																					p.S934R													SHANK1,NS,carcinoma,-1,1	SHANK1	-1	1	0			c.C2802A												24.0	24.0	24.0					19																	51172415		2200	4299	6499	SO:0001583	missense	50944	exon22			AGGTGTGCTGTAG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2802C>A	19.37:g.51172415G>T	ENSP00000293441:p.Ser934Arg		35	0	0		19	0.11	2	NM_016148	2	0.00	0	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190828	0.21954	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.38887	1.24;1.66;1.21;1.11	3.03	3.03	0.35002	.	0.696271	0.12535	U	0.460458	T	0.32255	0.0823	L	0.38175	1.15	0.25440	N	0.988105	B;B	0.23650	0.003;0.089	B;B	0.16289	0.002;0.015	T	0.25641	-1.0126	10	0.66056	D	0.02	0.0607	9.4376	0.38648	0.0:0.0:0.7871:0.2129	.	934;321	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	R	934;321;925;942	ENSP00000293441:S934R;ENSP00000375689:S321R;ENSP00000351984:S925R;ENSP00000375690:S942R	ENSP00000293441:S934R	S	-	3	2	SHANK1	55864227	0.975000	0.34042	0.998000	0.56505	0.482000	0.33219	0.421000	0.21280	1.408000	0.46895	0.549000	0.68633	AGC			0.697	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268071.1		NM_016148	
ZNF606	80095	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58490600	58490600	+	Missense_Mutation	SNP	G	G	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr19:58490600G>C	ENST00000341164.4	-	7	2068	c.1448C>G	c.(1447-1449)cCt>cGt	p.P483R	ZNF606_ENST00000536132.1_Missense_Mutation_p.P393R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACAAACATAAGGTTTTTCTCC	0.358																																					p.P483R													.	.			0			c.C1448G												46.0	49.0	48.0					19																	58490600		2203	4299	6502	SO:0001583	missense	80095	exon7			ACATAAGGTTTTT	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1448C>G	19.37:g.58490600G>C	ENSP00000343617:p.Pro483Arg		79	0	0		71	0.15	11	NM_025027	43	0.44	19	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156849	0.38119	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.56444	0.46;2.29;1.64	3.99	3.99	0.46301	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000339	T	0.71592	0.3358	M	0.81179	2.53	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.75569	-0.3272	10	0.87932	D	0	.	12.3225	0.54993	0.0:0.1726:0.8274:0.0	.	483	Q8WXB4	ZN606_HUMAN	R	483;393;483	ENSP00000343617:P483R;ENSP00000445624:P393R;ENSP00000446972:P483R	ENSP00000343617:P483R	P	-	2	0	ZNF606	63182412	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.155000	0.64900	2.515000	0.84797	0.655000	0.94253	CCT			0.358	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405961.1		NM_025027	
ANKRD36C	400986	bcgsc.ca	37	2	96525702	96525702	+	Missense_Mutation	SNP	C	C	T	rs113412941		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr2:96525702C>T	ENST00000456556.1	-	61	3887	c.3803G>A	c.(3802-3804)aGt>aAt	p.S1268N	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.S519N|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.S295N			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1268							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTGTAGTACACTAGCCTTATT	0.289																																					.													.	.			0			.																																									SO:0001583	missense	400986	.			AGTACACTAGCCT	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3803G>A	2.37:g.96525702C>T	ENSP00000403302:p.Ser1268Asn		106	0.0283018868	3		112	0.07	8	.	7	0.00	0	C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37		.	.	.	.	.	.	.	.	.	.	c	0.387	-0.925448	0.02377	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.22743	1.94;1.94;1.94	1.85	0.951	0.19579	.	.	.	.	.	T	0.11239	0.0274	L	0.31752	0.955	0.09310	N	1	P	0.38110	0.618	B	0.34652	0.187	T	0.22243	-1.0222	9	0.18710	T	0.47	.	4.0869	0.09951	0.0:0.6192:0.0:0.3808	.	1268	Q5JPF3	AN36C_HUMAN	N	519;1268;295	ENSP00000415231:S519N;ENSP00000403302:S1268N;ENSP00000407838:S295N	ENSP00000407838:S295N	S	-	2	0	AC073995.2	95889429	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	0.067000	0.14510	0.346000	0.23899	0.297000	0.19635	AGT			0.289	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000338799.2		NM_001010914	
NMS	129521	bcgsc.ca;mdanderson.org	37	2	101095866	101095866	+	Missense_Mutation	SNP	C	C	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr2:101095866C>T	ENST00000376865.1	+	6	320	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	105					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CGCCAACAGGCGGATGAAGAG	0.522																																					p.R105W													.	NMS	26		0			c.C313T												82.0	75.0	77.0					2																	101095866		2203	4300	6503	SO:0001583	missense	129521	exon6			AACAGGCGGATGA	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.313C>T	2.37:g.101095866C>T	ENSP00000366061:p.Arg105Trp		93	0	0		102	0.05	5	NM_001011717	0		0		Missense_Mutation	SNP	ENST00000376865.1	37	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650378	0.67472	.	.	ENSG00000204640	ENST00000376865	T	0.31769	1.48	4.73	3.61	0.41365	.	0.184923	0.33753	N	0.004584	T	0.51686	0.1689	M	0.79926	2.475	0.09310	N	0.999999	D	0.89917	1.0	D	0.67548	0.952	T	0.43988	-0.9357	10	0.87932	D	0	-8.6865	8.3789	0.32459	0.7597:0.2403:0.0:0.0	.	105	Q5H8A3	NMS_HUMAN	W	105	ENSP00000366061:R105W	ENSP00000366061:R105W	R	+	1	2	NMS	100462298	0.856000	0.29760	0.121000	0.21740	0.287000	0.27160	1.532000	0.36029	0.976000	0.38417	0.591000	0.81541	CGG			0.522	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329737.1		NM_001011717	
INHBB	3625	broad.mit.edu	37	2	121106822	121106822	+	Missense_Mutation	SNP	T	T	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr2:121106822T>C	ENST00000295228.3	+	2	642	c.596T>C	c.(595-597)gTc>gCc	p.V199A		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	199					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				AAGGTGCGGGTCAAAGTGTAC	0.607																																					p.V199A													.	INHBB	29		0			c.T596C												83.0	80.0	81.0					2																	121106822		2203	4300	6503	SO:0001583	missense	3625	exon2			TGCGGGTCAAAGT		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.596T>C	2.37:g.121106822T>C	ENSP00000295228:p.Val199Ala		154	0	0		134	0.04	5	NM_002193	1	0.00	0	Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240779	0.39598	.	.	ENSG00000163083	ENST00000295228	T	0.72615	-0.67	4.94	4.94	0.65067	Transforming growth factor-beta, N-terminal (1);	0.173669	0.36665	N	0.002470	T	0.67002	0.2847	L	0.55834	1.745	0.43545	D	0.995847	B	0.24186	0.099	B	0.24006	0.05	T	0.68292	-0.5447	10	0.87932	D	0	-6.3461	14.0023	0.64442	0.0:0.0:0.0:1.0	.	199	P09529	INHBB_HUMAN	A	199	ENSP00000295228:V199A	ENSP00000295228:V199A	V	+	2	0	INHBB	120823292	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.934000	0.63491	2.202000	0.70862	0.533000	0.62120	GTC			0.607	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254234.1			
ANKRD30BL	554226	broad.mit.edu	37	2	132919099	132919099	+	Silent	SNP	C	C	T	rs199974298		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr2:132919099C>T	ENST00000409867.1	-	1	429	c.180G>A	c.(178-180)aaG>aaA	p.K60K	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	60										endometrium(1)|kidney(3)	4						CCATTGTCGTCTTCTTCATCA	0.582																																					.													.	ANKRD30BL	36		0			.																																									SO:0001819	synonymous_variant	554226	.			TGTCGTCTTCTTC			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.180G>A	2.37:g.132919099C>T			70	0	0		74	0.09	7	.	0		0	B8ZZL7	Silent	SNP	ENST00000409867.1	37																																																																																						0.582	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000331353.2		NR_027019	
ANKRD30BL	554226	broad.mit.edu	37	2	132919171	132919171	+	Silent	SNP	A	A	G	rs199695856		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr2:132919171A>G	ENST00000409867.1	-	1	357	c.108T>C	c.(106-108)caT>caC	p.H36H	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	36										endometrium(1)|kidney(3)	4						TGAGATCCCCATGGTGAATCA	0.582																																					.													.	ANKRD30BL	36		0			.																																									SO:0001819	synonymous_variant	554226	.			ATCCCCATGGTGA			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.108T>C	2.37:g.132919171A>G			153	0.0065359477	1		138	0.07	9	.	0		0	B8ZZL7	Silent	SNP	ENST00000409867.1	37																																																																																						0.582	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000331353.2		NR_027019	
ANKRD30BL	554226	broad.mit.edu	37	2	132919192	132919192	+	Silent	SNP	G	G	A	rs111295191		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr2:132919192G>A	ENST00000409867.1	-	1	336	c.87C>T	c.(85-87)aaC>aaT	p.N29N	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	29										endometrium(1)|kidney(3)	4						CGTAAGAGTCGTTGTTGGTGT	0.602																																					.													.	ANKRD30BL	36		0			.																																									SO:0001819	synonymous_variant	554226	.			AGAGTCGTTGTTG			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.87C>T	2.37:g.132919192G>A			180	0.0111111111	2		133	0.05	6	.	0		0	B8ZZL7	Silent	SNP	ENST00000409867.1	37																																																																																						0.602	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000331353.2		NR_027019	
USP40	55230	hgsc.bcm.edu	37	2	234394246	234394246	+	Silent	SNP	C	C	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr2:234394246C>T	ENST00000427112.2	-	29	3467	c.3432G>A	c.(3430-3432)aaG>aaA	p.K1144K	USP40_ENST00000450966.1_Silent_p.K1156K|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000251722.6_Silent_p.K1144K			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1144					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTTTTTTTTTCTTTTTCCTCT	0.333																																					p.K1156K													USP40_ENST00000450966,NS,carcinoma,0,2	USP40_ENST00000450966	0	2	0			c.G3468A												67.0	63.0	64.0					2																	234394246		1811	4082	5893	SO:0001819	synonymous_variant	55230	exon29			TTTTTTCTTTTTC	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3432G>A	2.37:g.234394246C>T			161	0.0062111801	1		183	0.05	9	NM_018218	26	0.00	0	Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	9.081	0.999290	0.19121	.	.	ENSG00000085982	ENST00000454354	.	.	.	5.75	4.87	0.63330	.	.	.	.	.	T	0.60392	0.2265	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58657	-0.7598	4	.	.	.	.	9.667	0.39990	0.0:0.7842:0.1421:0.0737	.	.	.	.	K	112	.	.	R	-	2	0	USP40	234058985	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.916000	0.39986	1.411000	0.46957	0.650000	0.86243	AGA			0.333	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000397235.1		XM_114294	
PYGB	5834	mdanderson.org	37	20	25277029	25277029	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr20:25277029G>T	ENST00000216962.4	+	20	2513	c.2403G>T	c.(2401-2403)aaG>aaT	p.K801N	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	801					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GGACCAAGAAGGTCATCAGGA	0.557																																					p.K801N													.	.			0			c.G2403T												95.0	78.0	83.0					20																	25277029		2203	4300	6503	SO:0001583	missense	5834	exon20			CAAGAAGGTCATC		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2403G>T	20.37:g.25277029G>T	ENSP00000216962:p.Lys801Asn		66	0	0		49	0.06	3	NM_002862	934	0.00	1	Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	CCDS13171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.161080|3.161080	0.57368|0.57368	.|.	.|.	ENSG00000100994|ENSG00000100994	ENST00000216962|ENST00000428458	D|.	0.93659|.	-3.26|.	4.66|4.66	2.7|2.7	0.31948|0.31948	.|.	0.111267|.	0.64402|.	D|.	0.000012|.	T|T	0.79370|0.79370	0.4434|0.4434	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	P|.	0.45986|.	0.87|.	P|.	0.45794|.	0.493|.	T|T	0.82442|0.82442	-0.0455|-0.0455	10|5	0.59425|.	D|.	0.04|.	-45.2731|-45.2731	9.8622|9.8622	0.41120|0.41120	0.2297:0.0:0.7703:0.0|0.2297:0.0:0.7703:0.0	.|.	801|.	P11216|.	PYGB_HUMAN|.	N|M	801|220	ENSP00000216962:K801N|.	ENSP00000216962:K801N|.	K|R	+|+	3|2	2|0	PYGB|PYGB	25225029|25225029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.334000|2.334000	0.43920|0.43920	1.303000|1.303000	0.44873|0.44873	0.561000|0.561000	0.74099|0.74099	AAG|AGG			0.557	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078415.2		NM_002862	
FAM182B	728882	broad.mit.edu	37	20	25755549	25755549	+	Missense_Mutation	SNP	C	C	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr20:25755549C>A	ENST00000376403.1	-	3	785	c.407G>T	c.(406-408)gGc>gTc	p.G136V	FAM182B_ENST00000478164.1_Intron|FAM182B_ENST00000376404.2_Intron			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	136										lung(1)	1						TGGTCTGCAGCCTTCCTGGGA	0.716																																					.													FAM182B,colon,carcinoma,0,1	FAM182B	6	1	0			.																																									SO:0001583	missense	0	.			CTGCAGCCTTCCT			20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.407G>T	20.37:g.25755549C>A	ENSP00000365585:p.Gly136Val		81	0	0		48	0.06	3	.	45	0.11	5	Q4G0Q1	Missense_Mutation	SNP	ENST00000376403.1	37		.	.	.	.	.	.	.	.	.	.	.	1.024	-0.684035	0.03353	.	.	ENSG00000175170	ENST00000376403	.	.	.	.	.	.	.	.	.	.	.	T	0.39064	0.1064	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.39187	-0.9626	3	0.87932	D	0	.	.	.	.	.	.	.	.	V	136	.	ENSP00000365585:G136V	G	-	2	0	FAM182B	25703549	0.129000	0.22400	0.158000	0.22627	0.158000	0.22134	-0.337000	0.07852	0.064000	0.16427	0.064000	0.15345	GGC			0.716	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding		OTTHUMT00000078463.2		NR_026714	
CDH22	64405	mdanderson.org	37	20	44815231	44815231	+	Silent	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr20:44815231G>T	ENST00000372262.3	-	9	2059	c.1659C>A	c.(1657-1659)atC>atA	p.I553I	CDH22_ENST00000537909.1_Silent_p.I553I	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCTCACCTTGGATGTCAAGCA	0.597																																					p.I553I													CDH22,NS,carcinoma,0,1	CDH22	0	1	0			c.C1659A												87.0	82.0	84.0					20																	44815231		2203	4300	6503	SO:0001819	synonymous_variant	64405	exon10			ACCTTGGATGTCA	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1659C>A	20.37:g.44815231G>T			63	0	0		44	0.07	3	NM_021248	0		0	B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	CCDS13395.1																																																																																					0.597	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080491.1		NM_021248	
APCDD1L	164284	mdanderson.org	37	20	57042182	57042182	+	Missense_Mutation	SNP	G	G	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr20:57042182G>A	ENST00000371149.3	-	3	951	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	APCDD1L_ENST00000439429.1_Missense_Mutation_p.R252C	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	241						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			TGCAGCGGGCGCTGGTAGCCC	0.721																																					p.R241C													.	.			0			c.C721T												20.0	25.0	24.0					20																	57042182		2190	4285	6475	SO:0001583	missense	164284	exon3			GCGGGCGCTGGTA	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.721C>T	20.37:g.57042182G>A	ENSP00000360191:p.Arg241Cys		29	0	0		29	0.10	3	NM_153360	0		0		Missense_Mutation	SNP	ENST00000371149.3	37	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218535	0.58560	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.18338	2.22;2.22	5.27	2.24	0.28232	.	0.485725	0.22952	N	0.053657	T	0.19886	0.0478	L	0.57536	1.79	0.34358	D	0.690646	D;D	0.60160	0.987;0.987	P;B	0.46825	0.528;0.409	T	0.28650	-1.0037	10	0.62326	D	0.03	-13.5528	7.5484	0.27781	0.1423:0.0:0.7224:0.1353	.	252;241	F5H6V6;Q8NCL9	.;APCDL_HUMAN	C	241;252	ENSP00000360191:R241C;ENSP00000413261:R252C	ENSP00000360191:R241C	R	-	1	0	APCDD1L	56475588	1.000000	0.71417	0.684000	0.30055	0.913000	0.54294	3.409000	0.52657	0.225000	0.20959	0.555000	0.69702	CGC			0.721	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000079881.2		NM_153360	
NEFH	4744	hgsc.bcm.edu	37	22	29885638	29885638	+	Missense_Mutation	SNP	T	T	A	rs267607535|rs190692435		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr22:29885638T>A	ENST00000310624.6	+	4	2042	c.2009T>A	c.(2008-2010)gTg>gAg	p.V670E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	676	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGTCCCCAGTGAAGGCAGAA	0.562																																					p.V670E													NEFH,NS,lymphoid_neoplasm,0,1	NEFH	0	1	0			c.T2009A												93.0	100.0	98.0					22																	29885638		2203	4299	6502	SO:0001583	missense	4744	exon4			CCCCAGTGAAGGC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2009T>A	22.37:g.29885638T>A	ENSP00000311997:p.Val670Glu		169	0	0		229	0.05	12	NM_021076	727	0.02	18	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.746577	0.00086	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.82344	-1.6	4.7	1.26	0.21427	.	1.045180	0.07584	N	0.920821	T	0.75162	0.3812	N	0.24115	0.695	0.09310	N	1	B	0.31640	0.333	B	0.41202	0.35	T	0.64050	-0.6498	10	0.45353	T	0.12	.	3.8398	0.08909	0.1553:0.2981:0.0:0.5465	.	676	P12036	NFH_HUMAN	E	670	ENSP00000311997:V670E	ENSP00000311997:V670E	V	+	2	0	NEFH	28215638	0.968000	0.33430	0.005000	0.12908	0.183000	0.23260	0.000000	0.12993	-0.045000	0.13468	0.402000	0.26972	GTG			0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321553.2		NM_021076	
DEPDC5	9681	bcgsc.ca;mdanderson.org	37	22	32193622	32193622	+	Silent	SNP	T	T	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr22:32193622T>C	ENST00000382112.3	+	12	874	c.804T>C	c.(802-804)acT>acC	p.T268T	DEPDC5_ENST00000382105.2_Silent_p.T268T|DEPDC5_ENST00000400242.3_Silent_p.T268T|DEPDC5_ENST00000266091.3_Silent_p.T268T|DEPDC5_ENST00000535622.1_Silent_p.T268T|DEPDC5_ENST00000382111.2_Silent_p.T268T|DEPDC5_ENST00000400246.1_Silent_p.T268T|DEPDC5_ENST00000536766.1_Silent_p.T240T|DEPDC5_ENST00000400248.2_Silent_p.T268T|DEPDC5_ENST00000400249.2_Silent_p.T268T	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	268					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGAATGGACTTCACTTCTCG	0.443																																					p.T268T													.	DEPDC5	266		0			c.T804C												98.0	97.0	97.0					22																	32193622		1907	4127	6034	SO:0001819	synonymous_variant	9681	exon13			ATGGACTTCACTT	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.804T>C	22.37:g.32193622T>C			92	0	0		94	0.05	5	NM_001242897	22	0.00	0	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	CCDS46692.1																																																																																					0.443	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000129087.1		NM_014662	
IL17REL	400935	broad.mit.edu;mdanderson.org	37	22	50438258	50438258	+	Splice_Site	SNP	C	C	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr22:50438258C>T	ENST00000389983.2	-	7	737	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	IL17REL_ENST00000341280.5_Splice_Site_p.R158Q	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	158										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ggcgCTCACTCGCACAGGGGC	0.771																																					p.R158Q													.	IL17REL	21		0			c.G473A												6.0	7.0	7.0					22																	50438258		1966	3866	5832	SO:0001630	splice_region_variant	400935	exon7			CTCACTCGCACAG	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.474+1G>A	22.37:g.50438258C>T			34	0	0		33	0.15	5	NM_001001694	0		0	A6NCN4|A6PVC1	Splice_Site	SNP	ENST00000389983.2	37	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	c	6.768	0.510531	0.12883	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.13420	2.59;2.59	3.53	-7.06	0.01568	.	2.113020	0.02862	N	0.130473	T	0.06142	0.0159	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32268	-0.9913	10	0.09084	T	0.74	.	4.6411	0.12548	0.4486:0.3371:0.0:0.2144	.	158	Q6ZVW7	I17EL_HUMAN	Q	158	ENSP00000374633:R158Q;ENSP00000342520:R158Q	ENSP00000342520:R158Q	R	-	2	0	IL17REL	48780385	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-3.441000	0.00470	-1.285000	0.02387	-3.661000	0.00025	CGA			0.771	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317011.1		NM_001001694	Missense_Mutation
RNF123	63891	ucsc.edu	37	3	49725038	49725038	+	5'Flank	SNP	G	G	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr3:49725038G>C	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Silent_p.P27P|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000545762.1_Silent_p.P88P|MST1_ENST00000449682.2_Silent_p.P102P	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P88L(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCTCGTGTGGGGCGAGTGTT	0.622																																					p.P102P													.	MST1	84		1	Substitution - Missense(1)	skin(1)	c.C306G												64.0	56.0	58.0					3																	49725038		2203	4300	6503	SO:0001631	upstream_gene_variant	4485	exon3			CGTGTGGGGCGAG	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725038G>C	Exception_encountered		100	0.03	3		86	0.19	16	NM_020998	24	0.00	0	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	CCDS33758.1																																																																																					0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346475.2		NM_022064	
RNF123	63891	ucsc.edu;bcgsc.ca	37	3	49725086	49725086	+	5'Flank	SNP	G	G	A	rs201833731	byFrequency	TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr3:49725086G>A	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Silent_p.N11N|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000545762.1_Silent_p.N72N|MST1_ENST00000449682.2_Silent_p.N86N	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCTGCTCACGTTGTAGTGGA	0.617																																					p.N86N													.	MST1	84		0			c.C258T												50.0	44.0	46.0					3																	49725086		2202	4300	6502	SO:0001631	upstream_gene_variant	4485	exon3			GCTCACGTTGTAG	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725086G>A	Exception_encountered		87	0.0229885057	2		74	0.18	13	NM_020998	31	0.00	0	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	CCDS33758.1																																																																																					0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346475.2		NM_022064	
SLC12A8	84561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	124909295	124909295	+	Missense_Mutation	SNP	G	G	C			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr3:124909295G>C	ENST00000393469.4	-	2	171	c.122C>G	c.(121-123)aCc>aGc	p.T41S	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.T41S|SLC12A8_ENST00000423114.2_Missense_Mutation_p.T70S	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	41					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						ACCATCCCAGGTCCCAAACAG	0.572																																					p.T41S													.	.			0			c.C122G												140.0	150.0	147.0					3																	124909295		2057	4213	6270	SO:0001583	missense	84561	exon3			TCCCAGGTCCCAA		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.122C>G	3.37:g.124909295G>C	ENSP00000377112:p.Thr41Ser		255	0	0		223	0.24	54	NM_024628	12	0.25	3	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105114	0.77096	.	.	ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000462437	D;D;D;D	0.96685	-2.85;-2.88;-2.85;-4.09	5.55	5.55	0.83447	.	.	.	.	.	D	0.97623	0.9221	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	D	0.96546	0.9404	9	0.13108	T	0.6	.	17.6788	0.88237	0.0:0.0:1.0:0.0	.	70;41	A0AV02-2;A0AV02	.;S12A8_HUMAN	S	41;70;41;9	ENSP00000377112:T41S;ENSP00000404243:T70S;ENSP00000418783:T41S;ENSP00000418636:T9S	ENSP00000377112:T41S	T	-	2	0	SLC12A8	126391985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.573000	0.82421	2.593000	0.87608	0.655000	0.94253	ACC			0.572	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355711.4		NM_024628	
AMOTL2	51421	ucsc.edu;bcgsc.ca	37	3	134080365	134080365	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr3:134080365G>T	ENST00000422605.2	-	6	1730	c.1564C>A	c.(1564-1566)Cgt>Agt	p.R522S	AMOTL2_ENST00000513145.1_Missense_Mutation_p.R522S|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R522S|AMOTL2_ENST00000514516.1_Missense_Mutation_p.R580S			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	522					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCTGTGCACGCAGGGCCTTG	0.647																																					p.R522S													.	AMOTL2	52		0			c.C1564A												24.0	25.0	25.0					3																	134080365		2203	4296	6499	SO:0001583	missense	51421	exon6			GTGCACGCAGGGC	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1564C>A	3.37:g.134080365G>T	ENSP00000409999:p.Arg522Ser		55	0	0		37	0.11	4	NM_016201	16	0.00	0	A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37		.	.	.	.	.	.	.	.	.	.	G	16.62	3.174271	0.57692	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.35789	1.32;1.34;1.29;1.62	5.41	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.54781	-0.8242	10	0.44086	T	0.13	-15.1553	13.5542	0.61749	0.0:0.0:0.6598:0.3402	.	522;522;580	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	S	522;522;580;522	ENSP00000249883:R522S;ENSP00000409999:R522S;ENSP00000424765:R580S;ENSP00000425475:R522S	ENSP00000249883:R522S	R	-	1	0	AMOTL2	135563055	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.113000	0.41902	2.816000	0.96949	0.563000	0.77884	CGT			0.647	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000358149.1		NM_016201	
MUC4	4585	mdanderson.org	37	3	195509071	195509071	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr3:195509071G>T	ENST00000463781.3	-	2	9839	c.9380C>A	c.(9379-9381)tCc>tAc	p.S3127Y	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S3127Y|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGATGCTGAGGAAGTGTCGGT	0.577																																					p.S3127Y													.	.			0			c.C9380A												12.0	7.0	9.0					3																	195509071		650	1516	2166	SO:0001583	missense	4585	exon2			GCTGAGGAAGTGT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9380C>A	3.37:g.195509071G>T	ENSP00000417498:p.Ser3127Tyr		54	0.037037037	2		43	0.16	7	NM_018406	1	0.00	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	7.146	0.582778	0.13749	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34275	1.37;1.45	.	.	.	.	.	.	.	.	T	0.22513	0.0543	N	0.19112	0.55	0.21933	N	0.999467	P	0.50156	0.932	B	0.43990	0.438	T	0.14476	-1.0471	7	.	.	.	.	6.8646	0.24086	1.0E-4:0.0:0.9999:0.0	.	2999	E7ESK3	.	Y	3127	ENSP00000417498:S3127Y;ENSP00000420243:S3127Y	.	S	-	2	0	MUC4	196993850	0.693000	0.27728	0.000000	0.03702	0.000000	0.00434	1.020000	0.30027	-0.000000	0.14550	0.000000	0.15137	TCC			0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324081.6		NM_018406	
FIP1L1	81608	hgsc.bcm.edu	37	4	54257228	54257228	+	Silent	SNP	A	A	G			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr4:54257228A>G	ENST00000337488.6	+	8	752	c.558A>G	c.(556-558)aaA>aaG	p.K186K	FIP1L1_ENST00000507166.1_Silent_p.K186K|FIP1L1_ENST00000358575.5_Silent_p.K171K|FIP1L1_ENST00000306932.6_Silent_p.K171K|FIP1L1_ENST00000507922.1_Silent_p.K171K	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	186	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATACCTGGAAAGCTTACTGTG	0.303			T	PDGFRA	idiopathic hypereosinophilic syndrome																																p.K186K				Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	.	.			0			c.A558G												79.0	88.0	85.0					4																	54257228		2203	4300	6503	SO:0001819	synonymous_variant	81608	exon8			CTGGAAAGCTTAC	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.558A>G	4.37:g.54257228A>G			186	0	0		365	0.23	85	NM_030917	224	0.00	0	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Silent	SNP	ENST00000337488.6	37	CCDS3491.1																																																																																					0.303	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000250602.1		NM_030917	
BMP3	651	mdanderson.org	37	4	81967030	81967030	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr4:81967030G>T	ENST00000282701.2	+	2	775	c.455G>T	c.(454-456)tGc>tTc	p.C152F		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	152					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCTGGAGGATGCTCCCATCAT	0.453																																					p.C152F													.	.			0			c.G455T												127.0	110.0	116.0					4																	81967030		2203	4300	6503	SO:0001583	missense	651	exon2			GAGGATGCTCCCA	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.455G>T	4.37:g.81967030G>T	ENSP00000282701:p.Cys152Phe		60	0	0		49	0.06	3	NM_001201	0		0	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970353	0.34754	.	.	ENSG00000152785	ENST00000282701	T	0.74209	-0.82	5.14	5.14	0.70334	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.85787	0.1365	10	0.56958	D	0.05	.	14.8576	0.70351	0.0:0.1442:0.8558:0.0	.	152	P12645	BMP3_HUMAN	F	152	ENSP00000282701:C152F	ENSP00000282701:C152F	C	+	2	0	BMP3	82186054	1.000000	0.71417	0.790000	0.31976	0.017000	0.09413	7.319000	0.79040	2.690000	0.91761	0.655000	0.94253	TGC			0.453	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252634.1			
LECT2	3950	mdanderson.org	37	5	135287021	135287021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr5:135287021G>T	ENST00000274507.1	-	3	380	c.180C>A	c.(178-180)tgC>tgA	p.C60*	LECT2_ENST00000514447.2_Nonsense_Mutation_p.C60*|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000522943.1_Nonsense_Mutation_p.C60*|LECT2_ENST00000512872.1_5'UTR	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	60					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)			large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCAGCAGAGCACAAGATGT	0.458																																					p.C60X													.	.			0			c.C180A												130.0	115.0	120.0					5																	135287021		2203	4300	6503	SO:0001587	stop_gained	3950	exon3			AGCAGAGCACAAG	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.180C>A	5.37:g.135287021G>T	ENSP00000274507:p.Cys60*		71	0	0		51	0.06	3	NM_002302	9	0.00	0	B2RA90|O14565|Q52M49	Nonsense_Mutation	SNP	ENST00000274507.1	37	CCDS4190.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072322	0.36566	.	.	ENSG00000145826	ENST00000522943;ENST00000274507;ENST00000514447	.	.	.	6.07	0.122	0.14702	.	0.085466	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9418	9.6219	0.39727	0.4087:0.0:0.5913:0.0	.	.	.	.	X	60	.	ENSP00000274507:C60X	C	-	3	2	LECT2	135314920	0.009000	0.17119	0.156000	0.22583	0.153000	0.21895	-0.011000	0.12721	-0.041000	0.13558	0.650000	0.86243	TGC			0.458	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251209.1		NM_002302	
PCDHGA2	56113	mdanderson.org	37	5	140720516	140720516	+	Missense_Mutation	SNP	C	C	T	rs35592458	byFrequency	TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr5:140720516C>T	ENST00000394576.2	+	1	1978	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	660	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGTCACGCTCACCGTGGC	0.687																																					p.L660F													.	.			0			c.C1978T												31.0	38.0	36.0					5																	140720516		2195	4282	6477	SO:0001583	missense	56113	exon1			GTCACGCTCACCG	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1978C>T	5.37:g.140720516C>T	ENSP00000378077:p.Leu660Phe		76	0	0		49	0.04	2	NM_032009	12	0.00	0	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.800	1.180262	0.21787	.	.	ENSG00000081853	ENST00000394576	T	0.63417	-0.04	5.14	2.01	0.26516	Cadherin (4);Cadherin-like (1);	0.226298	0.21714	U	0.070227	T	0.63908	0.2551	M	0.82630	2.6	0.19575	N	0.999962	B;B	0.32203	0.36;0.285	B;B	0.40477	0.238;0.33	T	0.61431	-0.7064	10	0.66056	D	0.02	.	3.4939	0.07648	0.1135:0.5182:0.2035:0.1648	.	660;660	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	F	660	ENSP00000378077:L660F	ENSP00000378077:L660F	L	+	1	0	PCDHGA2	140700700	0.000000	0.05858	0.862000	0.33874	0.007000	0.05969	-1.561000	0.02158	0.676000	0.31285	-0.330000	0.08379	CTC			0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374738.1		NM_018915	
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	12121882	12121883	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	TA	TA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr6:12121882_12121883delTA	ENST00000379388.2	+	4	2186_2187	c.1854_1855delTA	c.(1852-1857)actaatfs	p.N619fs		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	619					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGTTGGAGACTAATGAGAATTC	0.51																																					p.618_618del													HIVEP1,NS,carcinoma,0,1	HIVEP1	242		0			c.1853_1854del																																									SO:0001589	frameshift_variant	3096	exon4			GGAGACTAATGAG	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1854_1855delTA	6.37:g.12121882_12121883delTA	ENSP00000368698:p.Asn619fs		80	0	0		90	0.29	26	NM_002114	10	0.10	1	B2RTU3|Q14122|Q5MPB1|Q5VW60	Frame_Shift_Del	DEL	ENST00000379388.2	37	CCDS43426.1																																																																																					0.510	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039870.2		NM_002114	
SIRT5	23408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	13588626	13588626	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr6:13588626G>T	ENST00000606117.1	+	4	475	c.179G>T	c.(178-180)gGt>gTt	p.G60V	SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000359782.3_Missense_Mutation_p.G60V|SIRT5_ENST00000379262.4_Missense_Mutation_p.G60V	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TCAGGAGCTGGTGTTAGTGCA	0.418																																					p.G60V													.	.			0			c.G179T												113.0	104.0	107.0					6																	13588626		2203	4300	6503	SO:0001583	missense	23408	exon4			GAGCTGGTGTTAG	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.179G>T	6.37:g.13588626G>T	ENSP00000476228:p.Gly60Val		146	0	0		152	0.28	43	NM_012241	83	0.28	23		Missense_Mutation	SNP	ENST00000606117.1	37	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383537	0.61845	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000379250	D;D;D	0.89343	-2.5;-2.5;-2.5	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.97201	0.9085	H	0.99545	4.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99505	1.0954	10	0.87932	D	0	-41.1861	17.9952	0.89181	0.0:0.0:1.0:0.0	.	60;60;60	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	V	60	ENSP00000352830:G60V;ENSP00000368564:G60V;ENSP00000368552:G60V	ENSP00000352830:G60V	G	+	2	0	SIRT5	13696605	1.000000	0.71417	0.775000	0.31657	0.223000	0.24884	9.464000	0.97655	2.335000	0.79485	0.650000	0.86243	GGT			0.418	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039908.2			
SLC17A4	10050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	25777039	25777039	+	Splice_Site	SNP	G	G	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr6:25777039G>A	ENST00000377905.4	+	10	1239		c.e10-1		SLC17A4_ENST00000439485.2_Splice_Site|SLC17A4_ENST00000397076.2_Missense_Mutation_p.G172R	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4						phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCTACCCCAGGGGTTCTCTT	0.557																																					.													SLC17A4,NS,carcinoma,-1,1	SLC17A4	-1	1	0			c.1121-1G>A												185.0	146.0	160.0					6																	25777039		2203	4300	6503	SO:0001630	splice_region_variant	10050	exon10			ACCCCAGGGGTTC	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1121-1G>A	6.37:g.25777039G>A			116	0	0		104	0.30	31	NM_005495	0		0	B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Splice_Site	SNP	ENST00000377905.4	37	CCDS4564.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.535997|3.535997	0.64972|0.64972	.|.	.|.	ENSG00000146039|ENSG00000146039	ENST00000377905;ENST00000439485|ENST00000397076	.|T	.|0.59364	.|0.27	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70570	.|0.3239	.|.	.|.	.|.	0.39826|0.39826	D|D	0.972901|0.972901	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.70594	.|-0.4829	.|7	.|.	.|.	.|.	.|.	15.5396|15.5396	0.76031|0.76031	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|172	.|E7EU17	.|.	.|R	-1|172	.|ENSP00000380266:G172R	.|.	.|G	+|+	.|1	.|0	SLC17A4|SLC17A4	25885018|25885018	1.000000|1.000000	0.71417|0.71417	0.818000|0.818000	0.32626|0.32626	0.655000|0.655000	0.38815|0.38815	6.032000|6.032000	0.70918|0.70918	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	.|GGG			0.557	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040068.1			Intron
HLA-H	3136	hgsc.bcm.edu	37	6	29857993	29857993	+	IGR	SNP	T	T	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr6:29857993T>A								HLA-G (59091 upstream) : HLA-A (51043 downstream)																							TAGGACCTTATGGCCCTGGCT	0.502																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	3136	.			ACCTTATGGCCCT																													6.37:g.29857993T>A			54	0	0		54	0.11	6	.	3	1.00	3		RNA	SNP		37																																																																																					0	0.502										
MUC21	394263	broad.mit.edu	37	6	30954534	30954534	+	Silent	SNP	T	T	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr6:30954534T>A	ENST00000376296.3	+	2	823	c.582T>A	c.(580-582)acT>acA	p.T194T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	194	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T194T(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGGCCAGCACTGCCACCAACT	0.612																																					p.T194T													MUC21,NS,carcinoma,0,3	MUC21	98	3	1	Substitution - coding silent(1)	endometrium(1)	c.T582A												178.0	168.0	171.0					6																	30954534		2203	4300	6503	SO:0001819	synonymous_variant	394263	exon2			CAGCACTGCCACC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.582T>A	6.37:g.30954534T>A			41	0.0487804878	2		48	0.10	5	NM_001010909	26	0.00	0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																					0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000128579.3		NM_001010909	
GTPBP2	54676	mdanderson.org	37	6	43592665	43592665	+	Silent	SNP	G	G	T	rs143185915		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr6:43592665G>T	ENST00000307126.5	-	6	839	c.840C>A	c.(838-840)ccC>ccA	p.P280P	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.P192P	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGGCGCAGTCGGGGCAGTATG	0.582																																					p.P280P	GBM(116;405 1620 28302 32150 44768)												.	.			0			c.C840A												207.0	163.0	178.0					6																	43592665		2203	4300	6503	SO:0001819	synonymous_variant	54676	exon6			GCAGTCGGGGCAG	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.840C>A	6.37:g.43592665G>T			81	0	0		48	0.06	3	NM_019096	224	0.00	0		Silent	SNP	ENST00000307126.5	37	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	G	6.198	0.404621	0.11754	.	.	ENSG00000172432	ENST00000442748	T	0.70869	-0.52	5.22	-9.22	0.00675	.	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82886	-0.0235	7	0.87932	D	0	-12.8674	16.035	0.80621	0.0997:0.0:0.7127:0.1876	.	.	.	.	Q	246	ENSP00000411358:P246Q	ENSP00000411358:P246Q	P	-	2	0	GTPBP2	43700643	0.000000	0.05858	0.465000	0.27155	0.958000	0.62258	-4.491000	0.00225	-2.156000	0.00790	-0.474000	0.04947	CCG			0.582	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040679.1			
NYAP1	222950	mdanderson.org	37	7	100086571	100086571	+	Silent	SNP	G	G	A			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr7:100086571G>A	ENST00000300179.2	+	4	1386	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	NYAP1_ENST00000454988.1_Silent_p.P352P|NYAP1_ENST00000423930.1_Silent_p.P409P	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	409	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACTCGACACCGTTGCCACCCC	0.751																																					p.P409P													.	.			0			c.G1227A												9.0	12.0	11.0					7																	100086571		2003	4023	6026	SO:0001819	synonymous_variant	222950	exon4			GACACCGTTGCCA	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1227G>A	7.37:g.100086571G>A			22	0	0		31	0.10	3	NM_173564	20	0.00	0	Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	CCDS5696.1																																																																																					0.751	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000339335.2		NM_173564	
RELN	5649	mdanderson.org	37	7	103275912	103275912	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr7:103275912G>T	ENST00000428762.1	-	19	2584	c.2425C>A	c.(2425-2427)Ctc>Atc	p.L809I	RELN_ENST00000424685.2_Missense_Mutation_p.L809I|RELN_ENST00000343529.5_Missense_Mutation_p.L809I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	809					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGCTCCAGGAGTTTCCAAGTT	0.433																																					p.L809I	NSCLC(146;835 1944 15585 22231 52158)												.	.			0			c.C2425A												90.0	94.0	92.0					7																	103275912		2203	4300	6503	SO:0001583	missense	5649	exon19			CCAGGAGTTTCCA		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2425C>A	7.37:g.103275912G>T	ENSP00000392423:p.Leu809Ile		31	0	0		43	0.07	3	NM_005045	1	0.00	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676626	0.88445	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26223	1.75;1.75;1.75	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000001	T	0.54159	0.1841	M	0.72353	2.195	0.58432	D	0.999998	D;D	0.76494	0.999;0.982	D;D	0.79784	0.993;0.952	T	0.49799	-0.8901	10	0.62326	D	0.03	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	809;809	P78509-2;P78509	.;RELN_HUMAN	I	809	ENSP00000392423:L809I;ENSP00000345694:L809I;ENSP00000388446:L809I	ENSP00000345694:L809I	L	-	1	0	RELN	103063148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.880000	0.69698	2.894000	0.99253	0.591000	0.81541	CTC			0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000348148.1		NM_005045	
CPSF1	29894	mdanderson.org	37	8	145622524	145622524	+	Silent	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr8:145622524G>T	ENST00000349769.3	-	23	2584	c.2490C>A	c.(2488-2490)ggC>ggA	p.G830G	CPSF1_ENST00000531727.1_5'Flank|MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	830					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCGGGCCTCGCCCTGTGTAG	0.687																																					p.G830G	NSCLC(133;1088 1848 27708 34777 35269)												.	.			0			c.C2490A												9.0	9.0	9.0					8																	145622524		2150	4222	6372	SO:0001819	synonymous_variant	29894	exon23			GGCCTCGCCCTGT	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2490C>A	8.37:g.145622524G>T			51	0	0		38	0.11	4	NM_013291	229	0.00	0	Q96AF0	Silent	SNP	ENST00000349769.3	37	CCDS34966.1																																																																																					0.687	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382422.2		NM_013291	
FOCAD	54914	mdanderson.org	37	9	20948910	20948910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr9:20948910G>T	ENST00000380249.1	+	34	4223	c.3859G>T	c.(3859-3861)Gaa>Taa	p.E1287*	FOCAD_ENST00000605086.1_Nonsense_Mutation_p.E723*|FOCAD_ENST00000338382.6_Nonsense_Mutation_p.E1287*	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1287						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GGTAGGCTCTGAAGGGGATGT	0.453																																					p.E1287X													.	.			0			c.G3859T												111.0	109.0	109.0					9																	20948910		2203	4300	6503	SO:0001587	stop_gained	54914	exon34			GGCTCTGAAGGGG	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3859G>T	9.37:g.20948910G>T	ENSP00000369599:p.Glu1287*		75	0	0		43	0.07	3	NM_017794	97	0.00	0	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Nonsense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	46	12.408389	0.99665	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	.	.	.	5.82	5.82	0.92795	.	0.045080	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-21.0228	18.8715	0.92317	0.0:0.0:1.0:0.0	.	.	.	.	X	1287	.	ENSP00000344307:E1287X	E	+	1	0	KIAA1797	20938910	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.910000	0.75741	2.760000	0.94817	0.655000	0.94253	GAA			0.453	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000143442.1		NM_017794	
CRB2	286204	mdanderson.org	37	9	126125220	126125220	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr9:126125220G>T	ENST00000373631.3	+	2	172	c.171G>T	c.(169-171)gaG>gaT	p.E57D	CRB2_ENST00000359999.3_Missense_Mutation_p.E57D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	57					cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGGCTACCGAGAGTGGTGGCT	0.667																																					p.E57D													.	.			0			c.G171T												45.0	48.0	47.0					9																	126125220		2200	4300	6500	SO:0001583	missense	286204	exon2			TACCGAGAGTGGT	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.171G>T	9.37:g.126125220G>T	ENSP00000362734:p.Glu57Asp		57	0	0		38	0.08	3	NM_173689	0		0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	7.918	0.737986	0.15574	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.86497	-2.13;-2.02	4.7	-1.29	0.09288	.	0.743926	0.11456	N	0.562271	T	0.68412	0.2998	N	0.11651	0.15	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.53549	-0.8423	10	0.13108	T	0.6	.	5.6282	0.17495	0.0776:0.3798:0.4128:0.1299	.	57;57	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	D	57	ENSP00000353092:E57D;ENSP00000362734:E57D	ENSP00000353092:E57D	E	+	3	2	CRB2	125165041	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.188000	0.09642	-0.082000	0.12640	-0.537000	0.04273	GAG			0.667	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053990.3		NM_173689	
TRUB2	26995	mdanderson.org	37	9	131073824	131073824	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr9:131073824G>T	ENST00000372890.4	-	6	850	c.517C>A	c.(517-519)Cag>Aag	p.Q173K	TRUB2_ENST00000546104.1_Missense_Mutation_p.Q117K|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	173					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						AGGGCCTTCTGATGGGAGCCT	0.587																																					p.Q173K													.	.			0			c.C517A												109.0	94.0	99.0					9																	131073824		2203	4300	6503	SO:0001583	missense	26995	exon6			CCTTCTGATGGGA	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.517C>A	9.37:g.131073824G>T	ENSP00000361982:p.Gln173Lys		99	0	0		49	0.06	3	NM_015679	120	0.00	0	B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105358	0.94245	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.50001	0.76;0.76	5.58	5.58	0.84498	Pseudouridine synthase, catalytic domain (1);	0.113633	0.64402	D	0.000009	T	0.65544	0.2701	L	0.54323	1.7	0.58432	D	0.999998	D	0.76494	0.999	D	0.74023	0.982	T	0.61729	-0.7003	10	0.39692	T	0.17	-25.4849	19.5636	0.95384	0.0:0.0:1.0:0.0	.	173	O95900	TRUB2_HUMAN	K	173;117	ENSP00000361982:Q173K;ENSP00000438084:Q117K	ENSP00000361982:Q173K	Q	-	1	0	TRUB2	130113645	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.221000	0.72243	2.616000	0.88540	0.561000	0.74099	CAG			0.587	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054419.1		NM_015679	
RAPGEF1	2889	mdanderson.org	37	9	134503405	134503405	+	Missense_Mutation	SNP	A	A	G			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chr9:134503405A>G	ENST00000372189.3	-	9	1168	c.1045T>C	c.(1045-1047)Tcc>Ccc	p.S349P	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S367P|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.S366P	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	349					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGCAGGGGGAGAGGCGGGGC	0.552																																					p.S367P													.	.			0			c.T1099C												31.0	35.0	33.0					9																	134503405		2140	4240	6380	SO:0001583	missense	2889	exon9			AGGGGGAGAGGCG	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1045T>C	9.37:g.134503405A>G	ENSP00000361263:p.Ser349Pro		34	0	0		23	0.09	2	NM_198679	122	0.00	0	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636892	0.87760	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.48201	0.82;0.82;0.82	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.64997	1.995	0.52501	D	0.999952	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.993;0.993;0.997	T	0.67768	-0.5585	10	0.56958	D	0.05	.	14.1451	0.65347	1.0:0.0:0.0:0.0	.	366;349;367	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	P	349;366;243;349;367;329;275;44;366	ENSP00000361269:S366P;ENSP00000361263:S349P;ENSP00000361264:S367P	ENSP00000266110:S349P	S	-	1	0	RAPGEF1	133493226	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.665000	0.91144	1.936000	0.56123	0.482000	0.46254	TCC			0.552	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054759.2		NM_005312	
TLR7	51284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	12904184	12904184	+	Missense_Mutation	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:12904184G>T	ENST00000380659.3	+	3	696	c.557G>T	c.(556-558)cGa>cTa	p.R186L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	186					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TGTTATTATCGAAATCCTTGT	0.388																																					p.R186L													.	.			0			c.G557T												46.0	45.0	46.0					X																	12904184		2203	4300	6503	SO:0001583	missense	51284	exon3			ATTATCGAAATCC	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.557G>T	X.37:g.12904184G>T	ENSP00000370034:p.Arg186Leu		82	0	0		92	0.43	40	NM_016562	2	0.00	0	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761960	0.69763	.	.	ENSG00000196664	ENST00000380659	T	0.35236	1.32	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	L	0.58969	1.84	0.58432	D	0.999999	P	0.48230	0.907	P	0.46299	0.511	T	0.41378	-0.9512	10	0.48119	T	0.1	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	186	Q9NYK1	TLR7_HUMAN	L	186	ENSP00000370034:R186L	ENSP00000370034:R186L	R	+	2	0	TLR7	12814105	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.995000	0.88328	2.252000	0.74401	0.589000	0.80489	CGA			0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055769.1		NM_016562	
GNL3L	54552	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	54584946	54584946	+	Silent	SNP	C	C	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:54584946C>T	ENST00000336470.4	+	15	1663	c.1524C>T	c.(1522-1524)cgC>cgT	p.R508R	GNL3L_ENST00000360845.2_Silent_p.R508R	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	508					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGGACCACCGCCCTAAGAGCA	0.552																																					p.R508R													.	.			0			c.C1524T												129.0	94.0	105.0					X																	54584946		2203	4300	6503	SO:0001819	synonymous_variant	54552	exon15			CCACCGCCCTAAG	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1524C>T	X.37:g.54584946C>T			80	0	0		111	0.32	36	NM_001184819	55	0.44	24		Silent	SNP	ENST00000336470.4	37	CCDS14360.1																																																																																					0.552	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056805.1		NM_019067	
TAF7L	54457	mdanderson.org	37	X	100533046	100533046	+	Missense_Mutation	SNP	C	C	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:100533046C>T	ENST00000372907.3	-	8	837	c.826G>A	c.(826-828)Gta>Ata	p.V276I	TAF7L_ENST00000356784.1_Missense_Mutation_p.V190I|TAF7L_ENST00000372905.2_Missense_Mutation_p.V190I|TAF7L_ENST00000324762.6_Missense_Mutation_p.V190I	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	276					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CGGGTACTTACGGCTTCAGCA	0.453																																					p.V276I	Ovarian(104;431 1530 3210 15406 18594)												.	.			0			c.G826A												108.0	97.0	101.0					X																	100533046		2203	4300	6503	SO:0001583	missense	54457	exon8			TACTTACGGCTTC	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.826G>A	X.37:g.100533046C>T	ENSP00000361998:p.Val276Ile		29	0	0		41	0.07	3	NM_024885	0		0	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	C	4.614	0.114026	0.08831	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.25085	3.69;1.82;1.82;2.93	5.08	-6.65	0.01795	TAFII55 protein, conserved region (1);	1.505090	0.04246	N	0.337855	T	0.15478	0.0373	N	0.21508	0.67	0.09310	N	0.999991	B;B	0.15719	0.013;0.014	B;B	0.14578	0.011;0.003	T	0.20505	-1.0273	10	0.25751	T	0.34	0.0777	9.2445	0.37518	0.0:0.5804:0.1309:0.2887	.	276;190	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	I	276;190;190;190	ENSP00000361998:V276I;ENSP00000361996:V190I;ENSP00000320283:V190I;ENSP00000349235:V190I	ENSP00000320283:V190I	V	-	1	0	TAF7L	100419702	0.000000	0.05858	0.006000	0.13384	0.018000	0.09664	-0.464000	0.06688	-2.380000	0.00594	-1.159000	0.01794	GTA			0.453	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000057526.2			
GLA	2717	broad.mit.edu;mdanderson.org	37	X	100653456	100653456	+	Missense_Mutation	SNP	G	G	C	rs398123224		TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:100653456G>C	ENST00000218516.3	-	6	922	c.901C>G	c.(901-903)Cga>Gga	p.R301G	GLA_ENST00000479445.1_5'Flank|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	301			R -> Q (in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells). {ECO:0000269|PubMed:10208848, ECO:0000269|PubMed:10916280, ECO:0000269|PubMed:1315715, ECO:0000269|PubMed:2171331, ECO:0000269|PubMed:7575533, ECO:0000269|PubMed:7599642, ECO:0000269|PubMed:8738659, ECO:0000269|PubMed:9105656}.		glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CTGATGTGTCGGAGGTCATTA	0.502																																					p.R301G	Colon(193;776 2816 31189 44474)												.	GLA	43		0			c.C901G	GRCh37	CM940866|HM972098	GLA	M								150.0	146.0	147.0					X																	100653456		2203	4300	6503	SO:0001583	missense	2717	exon6			TGTGTCGGAGGTC	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.901C>G	X.37:g.100653456G>C	ENSP00000218516:p.Arg301Gly		52	0	0		54	0.07	4	NM_000169	97	0.04	4	Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719275	0.68844	.	.	ENSG00000102393	ENST00000218516	D	0.99671	-6.35	5.91	2.99	0.34606	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.056189	0.64402	D	0.000001	D	0.99563	0.9843	.	.	.	0.48696	D	0.999698	D	0.89917	1.0	D	0.80764	0.994	D	0.98713	1.0705	9	0.66056	D	0.02	-3.3016	13.9806	0.64301	0.0:0.0:0.4447:0.5553	.	301	P06280	AGAL_HUMAN	G	301	ENSP00000218516:R301G	ENSP00000218516:R301G	R	-	1	2	GLA	100540112	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	1.833000	0.39161	0.167000	0.19631	0.600000	0.82982	CGA			0.502	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057540.1			
BRS3	680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	135572573	135572573	+	Missense_Mutation	SNP	T	T	G			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:135572573T>G	ENST00000370648.3	+	2	944	c.716T>G	c.(715-717)tTg>tGg	p.L239W		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	239					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TACTATTCCTTGATTGCTAGG	0.398																																					p.L239W													.	.			0			c.T716G												82.0	76.0	78.0					X																	135572573		2203	4299	6502	SO:0001583	missense	680	exon2			ATTCCTTGATTGC		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.716T>G	X.37:g.135572573T>G	ENSP00000359682:p.Leu239Trp		55	0	0		64	0.33	21	NM_001727	0		0		Missense_Mutation	SNP	ENST00000370648.3	37	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245652	0.80024	.	.	ENSG00000102239	ENST00000370648	T	0.42513	0.97	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000027	T	0.65312	0.2679	M	0.79693	2.465	0.47214	D	0.999357	D	0.89917	1.0	D	0.79108	0.992	T	0.66606	-0.5881	10	0.36615	T	0.2	-8.9319	14.5057	0.67750	0.0:0.0:0.0:1.0	.	239	P32247	BRS3_HUMAN	W	239	ENSP00000359682:L239W	ENSP00000359682:L239W	L	+	2	0	BRS3	135400239	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	7.698000	0.84413	1.805000	0.52779	0.486000	0.48141	TTG			0.398	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059005.1		NM_001727	
GABRE	2564	mdanderson.org	37	X	151123960	151123960	+	Silent	SNP	G	G	T			TCGA-S6-A8JY-01A-11D-A435-10	TCGA-S6-A8JY-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2dbd6c3e-58fc-49e3-a94a-edf53c841181	8ba463e3-b477-4c63-9649-3e10bb8b1704	g.chrX:151123960G>T	ENST00000370328.3	-	8	1070	c.1017C>A	c.(1015-1017)gcC>gcA	p.A339A	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Silent_p.A339A	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	339					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGAAATCCAAGGCTGTGATAT	0.488																																					p.A339A													.	.			0			c.C1017A												142.0	122.0	129.0					X																	151123960		2203	4300	6503	SO:0001819	synonymous_variant	2564	exon8			ATCCAAGGCTGTG	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1017C>A	X.37:g.151123960G>T			34	0	0		39	0.08	3	NM_004961	5	0.00	0	E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	CCDS14703.1																																																																																					0.488	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060903.1		NM_004961, NM_021990, NM_021984	
