#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_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	979025	979025	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:979025G>T	ENST00000379370.2	+	9	1761	c.1711G>T	c.(1711-1713)Ggg>Tgg	p.G571W		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	571	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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)		TGGCTCCGACGGGCACACGTA	0.687																																					p.G571W													.	.			0			c.G1711T												64.0	66.0	66.0					1																	979025		2203	4297	6500	SO:0001583	missense	375790	exon9			TCCGACGGGCACA	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.1711G>T	1.37:g.979025G>T	ENSP00000368678:p.Gly571Trp		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	17	0.12	2	NM_198576	27	0.00	0	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720296	0.48728	.	.	ENSG00000188157	ENST00000379370	T	0.79940	-1.32	4.17	4.17	0.49024	Proteinase inhibitor I1, Kazal (2);	0.000000	0.64402	D	0.000002	D	0.93595	0.7955	H	0.98155	4.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96351	0.9258	10	0.87932	D	0	-27.2607	16.8485	0.85987	0.0:0.0:1.0:0.0	.	571	O00468	AGRIN_HUMAN	W	571	ENSP00000368678:G571W	ENSP00000368678:G571W	G	+	1	0	AGRN	968888	1.000000	0.71417	0.954000	0.39281	0.043000	0.13939	5.010000	0.64004	2.032000	0.59987	0.655000	0.94253	GGG			0.687	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000097990.2		NM_198576	
SRRM1	10250	broad.mit.edu	37	1	24996016	24996016	+	Silent	SNP	G	G	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:24996016G>A	ENST00000323848.9	+	14	2457	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P	snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000447431.2_Silent_p.P726P|SRRM1_ENST00000374389.4_Silent_p.P723P|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	714	Arg-rich.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GGCAGTCCCCGTCTCCAAGTA	0.498																																					p.P714P	Ovarian(68;897 1494 3282 17478)												.	SRRM1	81		0			c.G2142A												38.0	37.0	37.0					1																	24996016		2203	4297	6500	SO:0001819	synonymous_variant	10250	exon14			GTCCCCGTCTCCA	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2142G>A	1.37:g.24996016G>A			Somatic	201	0	0		WXS	Illumina HiSeq	Phase_I	233	0.03	6	NM_005839	104	0.03	3	O60585|Q5VVN4	Silent	SNP	ENST00000323848.9	37	CCDS255.1																																																																																					0.498	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009292.2		NM_005839	
SCMH1	22955	mdanderson.org	37	1	41514364	41514364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:41514364G>T	ENST00000326197.7	-	10	1573	c.1274C>A	c.(1273-1275)tCa>tAa	p.S425*	SCMH1_ENST00000361191.5_Nonsense_Mutation_p.S364*|SCMH1_ENST00000402904.2_Nonsense_Mutation_p.S425*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.S364*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.S378*|SCMH1_ENST00000456518.2_Nonsense_Mutation_p.S267*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.S405*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.S435*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.S364*|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.S364*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.S378*					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GTGCTTACCTGAGATAACCTC	0.512																																					p.S435X													.	.			0			c.C1304A												183.0	158.0	166.0					1																	41514364		2203	4300	6503	SO:0001587	stop_gained	22955	exon11			TTACCTGAGATAA	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1274C>A	1.37:g.41514364G>T	ENSP00000318094:p.Ser425*		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_001172219	47	0.00	0		Nonsense_Mutation	SNP	ENST00000326197.7	37	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	43	10.138708	0.99345	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	.	.	.	6.07	6.07	0.98685	.	0.083283	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	.	.	.	X	378;267;425;405;364;364;378;364;435;364;425	.	ENSP00000318094:S425X	S	-	2	0	SCMH1	41286951	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.203000	0.65174	2.885000	0.99019	0.655000	0.94253	TCA			0.512	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000015656.1			
DOCK7	85440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	62979205	62979205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:62979205C>A	ENST00000340370.5	-	32	4116	c.4099G>T	c.(4099-4101)Gaa>Taa	p.E1367*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.E1398*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1398					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGAATAGCTTCTTCAAGCTTT	0.423																																					p.E1398X													.	.			0			c.G4192T												113.0	105.0	108.0					1																	62979205		2203	4300	6503	SO:0001587	stop_gained	85440	exon33			TAGCTTCTTCAAG		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4099G>T	1.37:g.62979205C>A	ENSP00000340742:p.Glu1367*		Somatic	126	0	0		WXS	Illumina HiSeq	.	113	0.29	33	NM_001271999	12	0.33	4	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.862938|10.862938	0.99479|0.99479	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79610	.|0.4475	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77824	.|-0.2444	.|3	0.72032|.	D|.	0.01|.	.|.	19.6914|19.6914	0.96002|0.96002	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1398;1398;1367;137|569	.|.	ENSP00000251157:E1398X|.	E|R	-|-	1|2	0|0	DOCK7|DOCK7	62751793|62751793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.818000|7.818000	0.86416|0.86416	2.644000|2.644000	0.89710|0.89710	0.563000|0.563000	0.77884|0.77884	GAA|AGA			0.423	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036806.1		NM_033407	
LRRC7	57554	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	70504317	70504317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:70504317delC	ENST00000035383.5	+	19	2726	c.2696delC	c.(2695-2697)tccfs	p.S899fs	LRRC7_ENST00000310961.5_Frame_Shift_Del_p.S904fs|LRRC7_ENST00000415775.2_Frame_Shift_Del_p.S183fs	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	899						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TATCATGATTCCAATCCCAAC	0.428																																					p.S899fs													.	LRRC7	400		0			c.2695delT												67.0	66.0	67.0					1																	70504317		2203	4300	6503	SO:0001589	frameshift_variant	57554	exon19			ATGATTCCAATCC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2696delC	1.37:g.70504317delC	ENSP00000035383:p.Ser899fs		Somatic	139	0	0		WXS	Illumina HiSeq	.	147	0.33	49	NM_020794	2	0.00	0	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Frame_Shift_Del	DEL	ENST00000035383.5	37	CCDS645.1																																																																																					0.428	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131261.1		NM_020794	
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																					.													.	.			0			.																																											9554	.			CAAAAACAAAAAA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA			Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	24	0.25	6	.	0		0	A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript		OTTHUMT00000038523.5		NM_004892	
HAPLN2	60484	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	156595122	156595122	+	Silent	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr1:156595122C>T	ENST00000255039.1	+	7	1376	c.969C>T	c.(967-969)ggC>ggT	p.G323G	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	323	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGTTTCGGCTTCCCCAGGC	0.697																																					p.G323G													.	.			0			c.C969T												8.0	9.0	9.0					1																	156595122		2175	4251	6426	SO:0001819	synonymous_variant	60484	exon7			TTTCGGCTTCCCC	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.969C>T	1.37:g.156595122C>T			Somatic	116	0	0		WXS	Illumina HiSeq	.	111	0.39	43	NM_021817	0		0	Q5T3J0	Silent	SNP	ENST00000255039.1	37	CCDS1148.1																																																																																					0.697	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000081039.1		NM_021817	
AKR1C7P	648947	broad.mit.edu	37	10	5325578	5325578	+	RNA	DEL	C	C	-	rs144291885|rs571534992	byFrequency	TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr10:5325578delC	ENST00000432689.2	-	0	276									aldo-keto reductase family 1, member C7, pseudogene																		tgaggtcaaacaactgctgga	0.498											OREG0019985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.													.	.			0			.																																											0	.			GTCAAACAACTGC			10p15.1	2012-12-04			ENSG00000215267	ENSG00000215267			44681	pseudogene	pseudogene							Standard	NG_023403		Approved				OTTHUMG00000017588		10.37:g.5325578delC			Somatic	7	0	0	625	WXS	Illumina HiSeq	Phase_I	10	0.50	5	.	0		0		RNA	DEL	ENST00000432689.2	37																																																																																						0.498	AKR1C7P-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000331591.2		NG_023403	
ANKRD30A	91074	broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	37442535	37442535	+	Missense_Mutation	SNP	T	T	G			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr10:37442535T>G	ENST00000602533.1	+	13	1674	c.1575T>G	c.(1573-1575)tgT>tgG	p.C525W	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.C525W|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.C525W			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	581					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGGATGTGTGTTTACCCAAGG	0.289																																					p.C525W													.	ANKRD30A	448		0			c.T1575G												138.0	139.0	139.0					10																	37442535		1801	4068	5869	SO:0001583	missense	91074	exon13			TGTGTGTTTACCC	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1575T>G	10.37:g.37442535T>G	ENSP00000473551:p.Cys525Trp		Somatic	576	0.0017361111	1		WXS	Illumina HiSeq	Phase_I	531	0.06	34	NM_052997	0		0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	9.606	1.129973	0.21041	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05786	3.39;3.39	1.47	1.47	0.22746	.	.	.	.	.	T	0.03695	0.0105	N	0.19112	0.55	0.09310	N	1	P	0.39964	0.697	B	0.35353	0.201	T	0.41052	-0.9530	9	0.42905	T	0.14	.	5.1117	0.14813	0.0:0.0:0.0:1.0	.	581	Q9BXX3	AN30A_HUMAN	W	525	ENSP00000354432:C525W;ENSP00000363792:C525W	ENSP00000354432:C525W	C	+	3	2	ANKRD30A	37482541	0.029000	0.19370	0.005000	0.12908	0.007000	0.05969	0.701000	0.25616	0.941000	0.37499	0.315000	0.21342	TGT			0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000047588.2		NM_052997	
PCDH15	65217	mdanderson.org	37	10	56129034	56129034	+	Splice_Site	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr10:56129034G>T	ENST00000320301.6	-	5	714	c.320C>A	c.(319-321)cCa>cAa	p.P107Q	PCDH15_ENST00000395445.1_Splice_Site_p.P107Q|PCDH15_ENST00000373955.1_Splice_Site_p.P107Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Splice_Site_p.P107Q|PCDH15_ENST00000361849.3_Splice_Site_p.P107Q|PCDH15_ENST00000395446.1_Splice_Site_p.P107Q|PCDH15_ENST00000395438.1_Splice_Site_p.P107Q|PCDH15_ENST00000395430.1_Splice_Site_p.P107Q|PCDH15_ENST00000395433.1_Splice_Site_p.P85Q|PCDH15_ENST00000437009.1_Splice_Site_p.P107Q|PCDH15_ENST00000395440.1_Splice_Site_p.P107Q|PCDH15_ENST00000414778.1_Splice_Site_p.P112Q|PCDH15_ENST00000395432.2_Splice_Site_p.P107Q|PCDH15_ENST00000395442.1_Splice_Site_p.P107Q|PCDH15_ENST00000373957.3_Splice_Site_p.P85Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTCATCGGTGGCTGCAATGT	0.388										HNSCC(58;0.16)																											p.P112Q													.	.			0			c.C335A												85.0	73.0	77.0					10																	56129034		2203	4299	6502	SO:0001630	splice_region_variant	65217	exon6			ATCGGTGGCTGCA	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.319-1C>A	10.37:g.56129034G>T			Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	25	0.12	3	NM_001142763	0		0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019860	0.75275	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.52;0.57;0.5;0.5;0.53;0.8;0.7;0.42;0.42;0.47;0.39;0.42;0.42;0.48;0.57	5.52	5.52	0.82312	Cadherin (1);	.	.	.	.	T	0.64461	0.2600	L	0.32530	0.975	0.51482	D	0.99992	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.991;0.991;0.999;0.998;0.999;0.999;0.987;0.979;0.993;0.999;1.0;0.999;0.991	T	0.62455	-0.6851	9	0.40728	T	0.16	.	19.0325	0.92963	0.0:0.0:1.0:0.0	.	85;107;107;112;107;107;107;107;107;107;107;112;107;85;107	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	107;112;107;107;107;107;107;107;107;107;85;85;107;107;112;107;107	ENSP00000363076:P107Q;ENSP00000410304:P112Q;ENSP00000378826:P107Q;ENSP00000378832:P107Q;ENSP00000378833:P107Q;ENSP00000378829:P107Q;ENSP00000378827:P107Q;ENSP00000378820:P107Q;ENSP00000354950:P107Q;ENSP00000378821:P85Q;ENSP00000363068:P85Q;ENSP00000322604:P107Q;ENSP00000378818:P107Q;ENSP00000412628:P107Q;ENSP00000363066:P107Q	ENSP00000322604:P107Q	P	-	2	0	PCDH15	55799040	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.839000	0.99476	2.590000	0.87494	0.585000	0.79938	CCA			0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000048121.2		NM_033056	Missense_Mutation
FFAR4	338557	mdanderson.org	37	10	95326948	95326948	+	Silent	SNP	G	G	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr10:95326948G>A	ENST00000371483.4	+	1	527	c.471G>A	c.(469-471)gtG>gtA	p.V157V	FFAR4_ENST00000604414.1_Silent_p.V157V|FFAR4_ENST00000371481.4_Silent_p.V157V	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	157					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										CGCGGGCAGTGCTGCTGGCGC	0.716																																					p.V157V													.	.			0			c.G471A												11.0	13.0	12.0					10																	95326948		2179	4226	6405	SO:0001819	synonymous_variant	338557	exon1			GGCAGTGCTGCTG		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.471G>A	10.37:g.95326948G>A			Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	25	0.12	3	NM_001195755	0		0	Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Silent	SNP	ENST00000371483.4	37	CCDS31248.1																																																																																					0.716	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000083179.1		NM_181745	
UBTD1	80019	mdanderson.org	37	10	99330066	99330066	+	Missense_Mutation	SNP	C	C	T	rs567215770		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr10:99330066C>T	ENST00000370664.3	+	3	806	c.470C>T	c.(469-471)aCg>aTg	p.T157M	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000307518.5_5'Flank|ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000370655.1_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	157	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CGCCTGTCCACGGGCAAGGAC	0.697													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15348	0.0		0.0	False		,,,				2504	0.0				p.T157M	Pancreas(100;169 2668 32720)												.	.			0			c.C470T												43.0	43.0	43.0					10																	99330066		2203	4299	6502	SO:0001583	missense	80019	exon3			TGTCCACGGGCAA	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.470C>T	10.37:g.99330066C>T	ENSP00000359698:p.Thr157Met		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_024954	27	0.00	0	D3DR57|Q53HI3	Missense_Mutation	SNP	ENST00000370664.3	37	CCDS7465.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758042	0.49468	.	.	ENSG00000165886	ENST00000370664	T	0.74209	-0.82	5.34	4.43	0.53597	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89576	0.3817	10	0.87932	D	0	-9.3344	15.3298	0.74200	0.1412:0.8588:0.0:0.0	.	157	Q9HAC8	UBTD1_HUMAN	M	157	ENSP00000359698:T157M	ENSP00000359698:T157M	T	+	2	0	UBTD1	99320056	1.000000	0.71417	0.883000	0.34634	0.045000	0.14185	7.818000	0.86416	1.390000	0.46547	-0.181000	0.13052	ACG			0.697	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049701.1		NM_024954	
OR5L1	219437	hgsc.bcm.edu	37	11	55579329	55579330	+	Silent	DNP	TT	TT	CC	rs143718494|rs148925009	byFrequency	TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:55579329_55579330TT>CC	ENST00000333973.2	+	1	476_477	c.387_388TT>CC	c.(385-390)ccTTtg>ccCCtg	p.129_130PL>PL		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTGTAACCCTTTGCTATACAC	0.51																																					p.N128N													OR5L1,NS,carcinoma,-1,1	OR5L1	-1	1	0			c.T388C																																									SO:0001819	synonymous_variant	219437	exon1			TAACCCTTTGCTA	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	Exception_encountered	11.37:g.55579329_55579330delinsCC			Somatic	74	0	0		WXS	Illumina HiSeq	.	100	0.05	5	NM_001004738	0		0	B2RNK6|Q6IFD0	Silent	DNP	ENST00000333973.2	37	CCDS31509.1																																																																																			0		0.510	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391514.1		NM_001004738	
CLP1	10978	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	11	57427264	57427264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:57427264C>T	ENST00000302731.4	+	2	436	c.316C>T	c.(316-318)Caa>Taa	p.Q106*	CLP1_ENST00000525602.1_Nonsense_Mutation_p.Q106*|CLP1_ENST00000529430.1_Nonsense_Mutation_p.Q117*|CLP1_ENST00000533682.1_Nonsense_Mutation_p.Q106*	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GATGCGGAGGCAAGCGGAAAA	0.552																																					p.Q106X													.	.			0			c.C316T												89.0	89.0	89.0					11																	57427264		2201	4296	6497	SO:0001587	stop_gained	10978	exon2			CGGAGGCAAGCGG	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.316C>T	11.37:g.57427264C>T	ENSP00000304704:p.Gln106*		Somatic	94	0	0		WXS	Illumina HiSeq	.	101	0.29	29	NM_001142597	15	0.00	0	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Nonsense_Mutation	SNP	ENST00000302731.4	37	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739762	0.89573	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000533905;ENST00000525602;ENST00000302731	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-19.2818	19.237	0.93864	0.0:1.0:0.0:0.0	.	.	.	.	X	117;106;106;106;106	.	ENSP00000304704:Q106X	Q	+	1	0	CLP1	57183840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.640000	0.89533	0.655000	0.94253	CAA			0.552	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000393465.1		NM_006831	
OR1S2	219958	hgsc.bcm.edu	37	11	57970760	57970760	+	Missense_Mutation	SNP	C	C	T	rs200054918		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:57970760C>T	ENST00000302592.6	-	1	893	c.894G>A	c.(892-894)atG>atA	p.M298I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M298I(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGAAGGGGTTCATCATGGGTG	0.468																																					p.M298I													OR1S2,NS,carcinoma,0,3	OR1S2	0	3	1	Substitution - Missense(1)	endometrium(1)	c.G894A												160.0	152.0	155.0					11																	57970760		2201	4296	6497	SO:0001583	missense	219958	exon1			GGGGTTCATCATG	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.894G>A	11.37:g.57970760C>T	ENSP00000305469:p.Met298Ile		Somatic	79	0.0253164557	2		WXS	Illumina HiSeq	.	96	0.05	5	NM_001004459	0		0	Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903545	0.33628	.	.	ENSG00000197887	ENST00000302592	T	0.34072	1.38	4.75	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	1.116300	0.06795	N	0.787733	T	0.30386	0.0763	L	0.33137	0.985	0.26469	N	0.975316	B	0.02656	0.0	B	0.06405	0.002	T	0.34378	-0.9831	10	0.72032	D	0.01	.	10.1183	0.42605	0.0:0.7564:0.0:0.2436	.	298	Q8NGQ3	OR1S2_HUMAN	I	298	ENSP00000305469:M298I	ENSP00000305469:M298I	M	-	3	0	OR1S2	57727336	0.014000	0.17966	0.995000	0.50966	0.993000	0.82548	-0.853000	0.04303	0.694000	0.31654	0.655000	0.94253	ATG			0.468	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394703.2		NM_001004459	
VEGFB	7423	mdanderson.org	37	11	64003785	64003785	+	Silent	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:64003785C>T	ENST00000309422.2	+	4	656	c.360C>T	c.(358-360)agC>agT	p.S120S	VEGFB_ENST00000426086.2_Silent_p.S120S|RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	120					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	AAGAACACAGCCAGTGTGAAT	0.607																																					p.S120S													.	.			0			c.C360T												68.0	70.0	69.0					11																	64003785		2201	4297	6498	SO:0001819	synonymous_variant	7423	exon4			ACACAGCCAGTGT	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.360C>T	11.37:g.64003785C>T			Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_001243733	150	0.00	0	Q16528	Silent	SNP	ENST00000309422.2	37	CCDS8062.1																																																																																					0.607	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000396393.2		NM_003377	
PLCB3	5331	mdanderson.org	37	11	64034987	64034987	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:64034987G>T	ENST00000540288.1	+	31	3767	c.3664G>T	c.(3664-3666)Ggc>Tgc	p.G1222C	PLCB3_ENST00000279230.6_Missense_Mutation_p.G1222C|PLCB3_ENST00000325234.5_Missense_Mutation_p.G1155C	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1222					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCACCTGTCGGGCGCTGACTC	0.726																																					p.G1222C													.	.			0			c.G3664T												4.0	6.0	5.0					11																	64034987		2078	4139	6217	SO:0001583	missense	5331	exon31			CTGTCGGGCGCTG	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3664G>T	11.37:g.64034987G>T	ENSP00000443631:p.Gly1222Cys		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	19	0.11	2	NM_000932	93	0.00	0	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185662	0.38609	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.22743	2.08;2.08;1.94	4.21	2.29	0.28610	.	0.684700	0.13188	N	0.406993	T	0.14013	0.0339	N	0.08118	0	0.09310	N	1	P;P	0.51147	0.895;0.942	P;P	0.49301	0.606;0.53	T	0.09037	-1.0693	10	0.66056	D	0.02	.	5.6501	0.17612	0.1804:0.0:0.6627:0.1569	.	1155;1222	G5E960;Q01970	.;PLCB3_HUMAN	C	1222;1222;1155	ENSP00000279230:G1222C;ENSP00000443631:G1222C;ENSP00000324660:G1155C	ENSP00000279230:G1222C	G	+	1	0	PLCB3	63791563	0.001000	0.12720	0.005000	0.12908	0.838000	0.47535	0.132000	0.15891	0.521000	0.28445	0.561000	0.74099	GGC			0.726	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396405.1			
UNC93B1	81622	broad.mit.edu;mdanderson.org	37	11	67763107	67763107	+	Silent	SNP	A	A	G			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:67763107A>G	ENST00000227471.2	-	10	1414	c.1335T>C	c.(1333-1335)agT>agC	p.S445S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TGTTCAGGGCACTGCCCACAC	0.617																																					.													.	.			0			.												10.0	10.0	10.0					11																	67763107		1758	3730	5488	SO:0001819	synonymous_variant	81622	.			CAGGGCACTGCCC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1335T>C	11.37:g.67763107A>G			Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	80	0.10	8	.	43	0.00	0	O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37																																																																																						0.617	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_030930	
NADSYN1	55191	mdanderson.org	37	11	71192991	71192991	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr11:71192991G>T	ENST00000319023.2	+	13	1258	c.1070G>T	c.(1069-1071)aGt>aTt	p.S357I	NADSYN1_ENST00000530055.1_5'UTR|NADSYN1_ENST00000526039.2_Intron|NADSYN1_ENST00000539574.1_Missense_Mutation_p.S97I	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	357	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CTGCCCTTGAGTGGCGGGGTG	0.602																																					p.S357I	Ovarian(79;763 1781 6490 50276)												.	.			0			c.G1070T												62.0	47.0	52.0					11																	71192991		2199	4294	6493	SO:0001583	missense	55191	exon13			CCTTGAGTGGCGG	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1070G>T	11.37:g.71192991G>T	ENSP00000326424:p.Ser357Ile		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_018161	29	0.00	0	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736617	0.89482	.	.	ENSG00000172890	ENST00000319023;ENST00000539574	D;D	0.98762	-5.12;-5.12	4.95	4.95	0.65309	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98029	1.0375	10	0.87932	D	0	-21.1591	15.6741	0.77300	0.0:0.0:1.0:0.0	.	97;357	B3KUU4;Q6IA69	.;NADE_HUMAN	I	357;97	ENSP00000326424:S357I;ENSP00000443718:S97I	ENSP00000326424:S357I	S	+	2	0	NADSYN1	70870639	1.000000	0.71417	0.996000	0.52242	0.852000	0.48524	7.924000	0.87555	2.307000	0.77673	0.491000	0.48974	AGT			0.602	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394356.1		NM_018161	
NCAPD2	9918	broad.mit.edu	37	12	6637351	6637351	+	Silent	SNP	C	C	T	rs376232892		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr12:6637351C>T	ENST00000315579.5	+	25	3955	c.3156C>T	c.(3154-3156)tgC>tgT	p.C1052C	NCAPD2_ENST00000545962.1_Silent_p.C1007C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1052					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCACTTTCTGCGACTCCCAGC	0.532																																					p.C1052C													.	NCAPD2	99		0			c.C3156T							C		0,4406		0,0,2203	204.0	210.0	208.0		3156	-1.3	1.0	12		208	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NCAPD2	NM_014865.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1052/1402	6637351	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9918	exon25			TTTCTGCGACTCC	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3156C>T	12.37:g.6637351C>T			Somatic	154	0	0		WXS	Illumina HiSeq	Phase_I	613	0.01	9	NM_014865	404	0.00	0	D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	CCDS8548.1																																																																																					0.532	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399964.1		NM_014865	
A2M	2	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	9258885	9258885	+	Missense_Mutation	SNP	A	A	C			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr12:9258885A>C	ENST00000318602.7	-	10	1358	c.1051T>G	c.(1051-1053)Tca>Gca	p.S351A		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	351				LSFV -> ACCS (in Ref. 6; AAH26246). {ECO:0000305}.	blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTCACAAATGAGAGTTTGGTT	0.403																																					p.S351A													.	.			0			c.T1051G												165.0	158.0	160.0					12																	9258885		1859	4093	5952	SO:0001583	missense	2	exon10			CAAATGAGAGTTT	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1051T>G	12.37:g.9258885A>C	ENSP00000323929:p.Ser351Ala		Somatic	118	0	0		WXS	Illumina HiSeq	.	292	0.07	19	NM_000014	77	0.04	3	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606764	0.28623	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.29142	1.58	6.06	3.51	0.40186	.	0.182652	0.38005	N	0.001843	T	0.36303	0.0962	M	0.85542	2.76	0.25190	N	0.990135	B	0.28552	0.215	B	0.32465	0.146	T	0.19192	-1.0313	10	0.26408	T	0.33	.	9.0066	0.36115	0.7716:0.0:0.0:0.2284	.	351	P01023	A2MG_HUMAN	A	351;366	ENSP00000323929:S351A	ENSP00000323929:S351A	S	-	1	0	A2M	9150152	0.918000	0.31147	1.000000	0.80357	0.942000	0.58702	1.318000	0.33643	2.324000	0.78689	0.533000	0.62120	TCA			0.403	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317233.2		NM_000014	
PRR4	11272	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	10999711	10999711	+	Missense_Mutation	SNP	A	A	G			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr12:10999711A>G	ENST00000228811.4	-	3	393	c.356T>C	c.(355-357)tTc>tCc	p.F119S	PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000544994.1_Missense_Mutation_p.S42P|PRR4_ENST00000540107.1_Silent_p.L61L	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	119					retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						GTCCCTCTGGAAGAATGATGA	0.502																																					p.F119S													.	.			0			c.T356C												179.0	172.0	174.0					12																	10999711		1977	4179	6156	SO:0001583	missense	11272	exon3			CTCTGGAAGAATG		CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.356T>C	12.37:g.10999711A>G	ENSP00000228811:p.Phe119Ser		Somatic	100	0	0		WXS	Illumina HiSeq	.	276	0.10	28	NM_007244	54	0.07	4	A8KA69|F5H0D7|Q8NFB3	Missense_Mutation	SNP	ENST00000228811.4	37	CCDS41756.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.596|5.596	0.294727|0.294727	0.10567|0.10567	.|.	.|.	ENSG00000111215|ENSG00000111215	ENST00000228811|ENST00000544994;ENST00000431566	T|T	0.18174|0.04706	2.23|3.57	0.923|0.923	-0.358|-0.358	0.12575|0.12575	.|.	1.787420|.	0.05749|.	N|.	0.602850|.	T|T	0.05410|0.05410	0.0143|0.0143	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.12630|.	0.006|.	B|.	0.06405|.	0.002|.	T|T	0.39121|0.39121	-0.9629|-0.9629	9|6	0.26408|0.87932	T|D	0.33|0	.|.	3.0656|3.0656	0.06213|0.06213	0.4634:0.0:0.5366:0.0|0.4634:0.0:0.5366:0.0	.|.	119|.	Q16378|.	PROL4_HUMAN|.	S|P	119|42;103	ENSP00000228811:F119S|ENSP00000438046:S42P	ENSP00000228811:F119S|ENSP00000405056:S103P	F|S	-|-	2|1	0|0	PRR4|PRR4	10890978|10890978	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.042000|0.042000	0.13812|0.13812	-0.899000|-0.899000	0.04101|0.04101	-0.171000|-0.171000	0.10797|0.10797	0.338000|0.338000	0.21704|0.21704	TTC|TCC			0.502	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000400049.1		NM_007244	
ATP7B	540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	52518252	52518252	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr13:52518252C>T	ENST00000242839.4	-	14	3392	c.3236G>A	c.(3235-3237)tGt>tAt	p.C1079Y	ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.C649Y|ATP7B_ENST00000400366.3_Missense_Mutation_p.C968Y|ATP7B_ENST00000344297.5_Missense_Mutation_p.C872Y|ATP7B_ENST00000418097.2_Missense_Mutation_p.C1014Y|ATP7B_ENST00000448424.2_Missense_Mutation_p.C1001Y	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1079					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TACCTCTTTACAGTATTTGGT	0.607									Wilson disease																												p.C1079Y													.	.			0			c.G3236A												39.0	42.0	41.0					13																	52518252		2059	4181	6240	SO:0001583	missense	540	exon14	Familial Cancer Database		TCTTTACAGTATT	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3236G>A	13.37:g.52518252C>T	ENSP00000242839:p.Cys1079Tyr		Somatic	58	0	0		WXS	Illumina HiSeq	.	35	0.63	22	NM_000053	4	0.00	0	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712494	0.68730	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9;-3.9	5.43	5.43	0.79202	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.94932	0.8361	N	0.10664	0.02	0.80722	D	1	D;D;D;D;B;D;D	0.89917	1.0;1.0;1.0;1.0;0.264;1.0;1.0	D;D;D;D;B;D;D	0.97110	0.998;0.997;1.0;1.0;0.04;1.0;0.999	D	0.96771	0.9568	10	0.87932	D	0	-10.3705	19.2349	0.93855	0.0:1.0:0.0:0.0	.	1001;1031;1014;649;968;872;1079	E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	Y	1079;968;872;1001;649;1014	ENSP00000242839:C1079Y;ENSP00000383217:C968Y;ENSP00000342559:C872Y;ENSP00000416738:C1001Y;ENSP00000383221:C649Y;ENSP00000393343:C1014Y	ENSP00000242839:C1079Y	C	-	2	0	ATP7B	51416253	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.770000	0.85390	2.571000	0.86741	0.561000	0.74099	TGT			0.607	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045981.1		NM_000053	
IPO5	3843	ucsc.edu;bcgsc.ca	37	13	98669019	98669019	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr13:98669019G>T	ENST00000490680.1	+	22	2595	c.2530G>T	c.(2530-2532)Gat>Tat	p.D844Y	IPO5_ENST00000261574.5_Missense_Mutation_p.D862Y|IPO5_ENST00000539640.1_Missense_Mutation_p.D719Y			O00410	IPO5_HUMAN	importin 5	844					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CAAAGTGTCAGATATTTTACA	0.299																																					p.D862Y													.	IPO5	90		0			c.G2584T												117.0	116.0	116.0					13																	98669019		2203	4298	6501	SO:0001583	missense	3843	exon25			GTGTCAGATATTT	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2530G>T	13.37:g.98669019G>T	ENSP00000418393:p.Asp844Tyr		Somatic	79	0	0		WXS	Illumina HiSeq		44	0.09	4	NM_002271	91	0.00	0	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.812449|4.812449	0.90707|0.90707	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.69685|.	-0.42;-0.42;-0.42;-0.42|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.042355|.	0.85682|.	D|.	0.000000|.	T|T	0.78521|0.78521	0.4296|0.4296	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.77900|0.77900	-0.2415|-0.2415	10|5	0.87932|.	D|.	0|.	-25.7432|-25.7432	19.6765|19.6765	0.95936|0.95936	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	862|.	O00410-3|.	.|.	Y|H	862;844;844;719|845	ENSP00000261574:D862Y;ENSP00000350219:D844Y;ENSP00000418393:D844Y;ENSP00000445126:D719Y|.	ENSP00000261574:D862Y|.	D|Q	+|+	1|3	0|2	IPO5|IPO5	97467020|97467020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.581000|9.581000	0.98210|0.98210	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	GAT|CAG			0.299	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000354655.1		NM_002271	
EML5	161436	broad.mit.edu	37	14	89093274	89093274	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr14:89093274G>T	ENST00000380664.5	-	33	4623	c.4624C>A	c.(4624-4626)Ctg>Atg	p.L1542M	EML5_ENST00000553320.1_5'UTR|EML5_ENST00000554922.1_Missense_Mutation_p.L1550M|EML5_ENST00000352093.5_Missense_Mutation_p.L1504M			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1542						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTTCCTGCCAGGGTCCAGAAC	0.478																																					p.L1550M													.	EML5	141		0			c.C4648A												131.0	128.0	129.0					14																	89093274		1914	4130	6044	SO:0001583	missense	161436	exon34			CTGCCAGGGTCCA	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4624C>A	14.37:g.89093274G>T	ENSP00000370039:p.Leu1542Met		Somatic	140	0	0		WXS	Illumina HiSeq	Phase_I	224	0.03	6	NM_183387	2	0.00	0	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040291	0.55003	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.48201	0.82;0.82;0.82	5.04	1.97	0.26223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000003	T	0.58004	0.2092	L	0.49571	1.57	0.38515	D	0.948575	D;D	0.89917	0.995;1.0	D;D	0.87578	0.975;0.998	T	0.60146	-0.7320	10	0.56958	D	0.05	-6.496	9.5405	0.39248	0.3122:0.0:0.6877:0.0	.	1550;1542	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	M	1550;1504;1542	ENSP00000451998:L1550M;ENSP00000298315:L1504M;ENSP00000370039:L1542M	ENSP00000298315:L1504M	L	-	1	2	EML5	88163027	0.998000	0.40836	0.996000	0.52242	0.961000	0.63080	2.812000	0.47994	0.714000	0.32081	0.655000	0.94253	CTG			0.478	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000410491.1			
Unknown	0	bcgsc.ca	37	15	30517228	30517228	+	IGR	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr15:30517228C>T								AC026150.5 (10485 upstream) : RNU6-17P (29376 downstream)																							GCTGGGTCAGCGCCTGGGCCT	0.662																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			GGTCAGCGCCTGG																													15.37:g.30517228C>T			Somatic	27	0	0		WXS	Illumina HiSeq	Phase_1	21	0.19	4	.	1	0.00	0		RNA	SNP		37																																																																																					0	0.662										
FAM98B	283742	hgsc.bcm.edu	37	15	38776833	38776833	+	IGR	SNP	T	T	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr15:38776833T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G425G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)	p.G425G(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		gtggtggtggtggaggaggtg	0.428																																					p.G425G													FAM98B_ENST00000397609,NS,carcinoma,0,2	FAM98B_ENST00000397609	0	2	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.T1275A												17.0	17.0	17.0					15																	38776833		1500	3373	4873	SO:0001628	intergenic_variant	283742	exon8			TGGTGGTGGAGGA		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776833T>A			Somatic	82	0.012195122	1		WXS	Illumina HiSeq	.	76	0.05	4	NM_173611	0		0	A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	CCDS42015.1																																																																																					0.428	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252071.2		NM_173611	
DISP2	85455	broad.mit.edu;ucsc.edu;mdanderson.org	37	15	40660083	40660083	+	Silent	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr15:40660083C>T	ENST00000267889.3	+	8	1857	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	590	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		ACCACTTCGGCTACCTGCTGC	0.682																																					p.G590G													.	DISP2	86		0			c.C1770T												19.0	19.0	19.0					15																	40660083		2201	4297	6498	SO:0001819	synonymous_variant	85455	exon8			CTTCGGCTACCTG	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1770C>T	15.37:g.40660083C>T			Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	13	0.31	4	NM_033510	0		0	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																					0.682	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252249.1		NM_033510	
UNC13C	440279	bcgsc.ca;mdanderson.org	37	15	54592474	54592474	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr15:54592474G>T	ENST00000260323.11	+	12	4171	c.4171G>T	c.(4171-4173)Gat>Tat	p.D1391Y	UNC13C_ENST00000537900.1_Missense_Mutation_p.D1389Y|UNC13C_ENST00000545554.1_Missense_Mutation_p.D1391Y	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1391					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGTCAAAGGGGATGAAGCCTG	0.363																																					p.D1391Y													.	UNC13C	674		0			c.G4171T												113.0	107.0	109.0					15																	54592474		1838	4105	5943	SO:0001583	missense	440279	exon11			AAAGGGGATGAAG	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4171G>T	15.37:g.54592474G>T	ENSP00000260323:p.Asp1391Tyr		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_1	85	0.06	5	NM_001080534	1	0.00	0	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546999	0.86022	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.81908	-1.54;-1.55;-1.54	5.61	5.61	0.85477	.	0.105528	0.64402	D	0.000006	D	0.91382	0.7281	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.993;0.95	D	0.92017	0.5623	10	0.87932	D	0	.	18.6257	0.91336	0.0:0.0:1.0:0.0	.	1391;1391	F5H090;Q8NB66	.;UN13C_HUMAN	Y	1391;1391;1389	ENSP00000260323:D1391Y;ENSP00000438156:D1391Y;ENSP00000442569:D1389Y	ENSP00000260323:D1391Y	D	+	1	0	UNC13C	52379766	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.799000	0.99117	2.640000	0.89533	0.655000	0.94253	GAT			0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000419028.3		NM_173166	
UBALD1	124402	mdanderson.org	37	16	4659951	4659951	+	Missense_Mutation	SNP	G	G	T	rs112538377		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr16:4659951G>T	ENST00000283474.7	-	3	345	c.217C>A	c.(217-219)Ccc>Acc	p.P73T	UBALD1_ENST00000587649.1_3'UTR|UBALD1_ENST00000587615.1_Intron|UBALD1_ENST00000591401.1_Missense_Mutation_p.P52T|UBALD1_ENST00000591897.1_Missense_Mutation_p.P13T|UBALD1_ENST00000590965.1_3'UTR|UBALD1_ENST00000590891.1_Missense_Mutation_p.P108T	NM_145253.2	NP_660296.1	Q8TB05	UBAD1_HUMAN	UBA-like domain containing 1	73																	GGGAAGTTGGGGGGTGTAGCA	0.657																																					p.P73T													FAM100A,NS,haematopoietic_neoplasm,0,1	FAM100A	0	1	0			c.C217A												13.0	14.0	13.0					16																	4659951		2185	4281	6466	SO:0001583	missense	124402	exon3			AGTTGGGGGGTGT	BC025327	CCDS10518.1	16p13.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000153443	ENSG00000153443			29576	protein-coding gene	gene with protein product			"""family with sequence similarity 100, member A"""	FAM100A			Standard	NM_145253		Approved		uc002cwx.2	Q8TB05	OTTHUMG00000129472	ENST00000283474.7:c.217C>A	16.37:g.4659951G>T	ENSP00000283474:p.Pro73Thr		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	33	0.09	3	NM_145253	27	0.00	0	Q71MF6	Missense_Mutation	SNP	ENST00000283474.7	37	CCDS10518.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197635	0.79015	.	.	ENSG00000153443	ENST00000283474	.	.	.	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81856	-0.0740	9	0.87932	D	0	.	15.12	0.72434	0.0:0.0:1.0:0.0	.	13;73	D3DUE0;Q8TB05	.;F100A_HUMAN	T	73	.	ENSP00000283474:P73T	P	-	1	0	FAM100A	4599952	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.497000	0.97970	2.138000	0.66242	0.563000	0.77884	CCC			0.657	UBALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251635.2		NM_145253	
ATP2C2	9914	mdanderson.org	37	16	84402237	84402237	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr16:84402237G>T	ENST00000262429.4	+	1	105	c.16G>T	c.(16-18)Gtc>Ttc	p.V6F	ATP2C2_ENST00000416219.2_Missense_Mutation_p.V6F	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	6					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CGAGGGACGCGTCTCCGAGTT	0.706																																					p.V6F													ATP2C2,colon,carcinoma,0,1	ATP2C2	0	1	0			c.G16T												9.0	13.0	12.0					16																	84402237		1835	4050	5885	SO:0001583	missense	9914	exon1			GGACGCGTCTCCG	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.16G>T	16.37:g.84402237G>T	ENSP00000262429:p.Val6Phe		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_014861	0		0	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	6.333	0.429618	0.11987	.	.	ENSG00000064270	ENST00000416219;ENST00000262429	D;D	0.92965	-3.14;-3.13	4.08	-0.671	0.11381	.	95.699500	0.00166	N	0.000000	T	0.82259	0.4998	N	0.08118	0	0.22989	N	0.998462	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.71361	-0.4616	10	0.25106	T	0.35	.	5.815	0.18488	0.0:0.1037:0.4575:0.4388	.	6;6	E7ES94;O75185	.;AT2C2_HUMAN	F	6	ENSP00000397925:V6F;ENSP00000262429:V6F	ENSP00000262429:V6F	V	+	1	0	ATP2C2	82959738	0.997000	0.39634	0.252000	0.24328	0.015000	0.08874	0.150000	0.16263	-0.205000	0.10219	-0.578000	0.04140	GTC			0.706	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433404.1		NM_014861	
CENPBD1	92806	mdanderson.org	37	16	90038253	90038253	+	Silent	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr16:90038253G>T	ENST00000314994.3	-	1	689	c.78C>A	c.(76-78)ctC>ctA	p.L26L	CENPBD1_ENST00000567035.1_Intron|RP11-566K11.5_ENST00000565150.1_RNA|AFG3L1P_ENST00000437774.1_RNA	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	26	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(2)	3						CTTCCAATTTGAGGTCAAGGG	0.483																																					p.L26L													.	.			0			c.C78A												46.0	52.0	50.0					16																	90038253		2130	4249	6379	SO:0001819	synonymous_variant	92806	exon1			CAATTTGAGGTCA	AK056131	CCDS45556.1	16q24.3	2009-08-26			ENSG00000177946	ENSG00000177946			28272	protein-coding gene	gene with protein product							Standard	NM_145039		Approved	MGC16385	uc002fpr.3	B2RD01		ENST00000314994.3:c.78C>A	16.37:g.90038253G>T			Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_145039	3	0.00	0		Silent	SNP	ENST00000314994.3	37	CCDS45556.1																																																																																					0.483	CENPBD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000421897.1		NM_145039	
C17orf97	400566	mdanderson.org	37	17	263637	263637	+	Missense_Mutation	SNP	T	T	A	rs71369083|rs71145728		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:263637T>A	ENST00000360127.6	+	2	1019	c.1003T>A	c.(1003-1005)Ttc>Atc	p.F335I	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	365	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCTCAAGGGCTTCCACCCCGA	0.692																																					p.F335I													.	.			0			c.T1003A												12.0	18.0	16.0					17																	263637		1773	3771	5544	SO:0001583	missense	400566	exon2			AAGGGCTTCCACC	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1003T>A	17.37:g.263637T>A	ENSP00000353245:p.Phe335Ile		Somatic	229	0.0262008734	6		WXS	Illumina HiSeq	Phase_I	132	0.07	9	NM_001013672	11	0.00	0	A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	T	9.208	1.030317	0.19512	.	.	ENSG00000187624	ENST00000360127	T	0.29397	1.57	2.05	2.05	0.26809	.	.	.	.	.	T	0.11281	0.0275	N	0.08118	0	0.09310	N	0.999999	P	0.44344	0.833	B	0.35182	0.197	T	0.07809	-1.0753	9	0.22109	T	0.4	.	4.5491	0.12103	0.288:0.0:0.0:0.712	.	335	Q6ZQX7-4	.	I	335	ENSP00000353245:F335I	ENSP00000353245:F335I	F	+	1	0	C17orf97	263983	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-3.798000	0.00363	0.877000	0.35895	0.172000	0.16884	TTC			0.692	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255648.4		NM_001013672	
WDR81	124997	mdanderson.org	37	17	1631759	1631759	+	Missense_Mutation	SNP	A	A	G			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:1631759A>G	ENST00000409644.1	+	1	3506	c.3506A>G	c.(3505-3507)gAg>gGg	p.E1169G	WDR81_ENST00000309182.5_Missense_Mutation_p.E118G|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000446363.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1169	Glu-rich.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		gaggaggaggagggggagcag	0.632																																					p.E1169G													.	.			0			c.A3506G												79.0	49.0	59.0					17																	1631759		2202	4296	6498	SO:0001583	missense	124997	exon1			AGGAGGAGGGGGA	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3506A>G	17.37:g.1631759A>G	ENSP00000386609:p.Glu1169Gly		Somatic	75	0.0133333333	1		WXS	Illumina HiSeq	Phase_I	77	0.05	4	NM_001163809	0		0	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.561397	0.45590	.	.	ENSG00000167716	ENST00000309182;ENST00000409644	T;T	0.54675	2.24;0.56	5.91	2.4	0.29515	.	0.563886	0.17192	N	0.183473	T	0.35364	0.0929	L	0.29908	0.895	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.0	T	0.06826	-1.0805	10	0.30078	T	0.28	.	6.2583	0.20885	0.7273:0.1343:0.1384:0.0	.	296;118	Q8TEL1;Q562E7	.;WDR81_HUMAN	G	118;1169	ENSP00000312074:E118G;ENSP00000386609:E1169G	ENSP00000312074:E118G	E	+	2	0	WDR81	1578509	1.000000	0.71417	0.618000	0.29105	0.933000	0.57130	4.492000	0.60334	0.123000	0.18342	-0.250000	0.11733	GAG			0.632	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000333118.2		NM_152348	
RAP1GAP2	23108	mdanderson.org	37	17	2901631	2901631	+	Silent	SNP	G	G	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:2901631G>A	ENST00000254695.8	+	14	1251	c.1161G>A	c.(1159-1161)gtG>gtA	p.V387V	RAP1GAP2_ENST00000540393.2_Silent_p.V368V|RAP1GAP2_ENST00000542807.1_Silent_p.V387V|RAP1GAP2_ENST00000366401.4_Silent_p.V372V	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	387	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ACATCGTCGTGCAGGTCGAGA	0.537																																					p.V387V													.	.			0			c.G1161A												96.0	97.0	96.0					17																	2901631		2055	4186	6241	SO:0001819	synonymous_variant	23108	exon14			CGTCGTGCAGGTC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1161G>A	17.37:g.2901631G>A			Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_015085	2	0.00	0	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	CCDS45573.1																																																																																					0.537	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000438208.2			
P2RX5	5026	mdanderson.org	37	17	3593417	3593417	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:3593417G>T	ENST00000225328.5	-	6	959	c.561C>A	c.(559-561)gaC>gaA	p.D187E	P2RX5_ENST00000435558.1_Missense_Mutation_p.D187E|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000552276.1_Missense_Mutation_p.D187E|P2RX5_ENST00000551178.1_Missense_Mutation_p.D163E|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.D187E|P2RX5_ENST00000345901.3_Missense_Mutation_p.D163E|P2RX5_ENST00000547178.1_Missense_Mutation_p.D187E|P2RX5_ENST00000552050.1_Missense_Mutation_p.D127E	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	187					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						AAATGGTGAAGTCTTCGGCCT	0.587																																					p.D187E													.	.			0			c.C561A												203.0	222.0	215.0					17																	3593417		2203	4300	6503	SO:0001583	missense	5026	exon6			GGTGAAGTCTTCG	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.561C>A	17.37:g.3593417G>T	ENSP00000225328:p.Asp187Glu		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	33	0.09	3	NM_001204519	0		0	G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	CCDS11034.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.55|17.55	3.417249|3.417249	0.62622|0.62622	.|.	.|.	ENSG00000083454|ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050|ENST00000552723	T;T;T;T;T;T|.	0.04049|.	3.72;3.72;3.72;3.72;3.72;3.72|.	5.34|5.34	3.28|3.28	0.37604|0.37604	.|.	0.360434|.	0.33854|.	N|.	0.004490|.	T|T	0.46034|0.46034	0.1372|0.1372	L|L	0.43152|0.43152	1.355|1.355	0.31806|0.31806	N|N	0.627751|0.627751	B;B;B;B;B;B|.	0.16166|.	0.016;0.009;0.009;0.009;0.011;0.009|.	B;B;B;B;B;B|.	0.23852|.	0.04;0.013;0.029;0.013;0.049;0.029|.	T|T	0.51466|0.51466	-0.8702|-0.8702	10|5	0.87932|.	D|.	0|.	-7.881|-7.881	10.8667|10.8667	0.46860|0.46860	0.0:0.1289:0.7095:0.1616|0.0:0.1289:0.7095:0.1616	.|.	127;163;187;163;187;187|.	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4|.	.;.;.;.;P2RX5_HUMAN;.|.	E|I	187;163;187;187;163;127|135	ENSP00000415370:D187E;ENSP00000447545:D163E;ENSP00000448355:D187E;ENSP00000225328:D187E;ENSP00000342161:D163E;ENSP00000450006:D127E|.	ENSP00000225328:D187E|.	D|L	-|-	3|1	2|0	P2RX5|P2RX5	3540166|3540166	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.924000|0.924000	0.55760|0.55760	2.831000|2.831000	0.48144|0.48144	0.661000|0.661000	0.30985|0.30985	0.655000|0.655000	0.94253|0.94253	GAC|CTT			0.587	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000207388.3		NM_002561, NM_175080, NM_175081	
ANKFY1	51479	mdanderson.org	37	17	4086823	4086823	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:4086823G>T	ENST00000341657.4	-	14	1857	c.1822C>A	c.(1822-1824)Ctg>Atg	p.L608M	ANKFY1_ENST00000570535.1_Missense_Mutation_p.L650M|ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000574367.1_Missense_Mutation_p.L608M|Y_RNA_ENST00000516003.1_RNA|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	608					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GAGCCCAGCAGCTGGGCTGCG	0.587																																					p.L650M													.	.			0			c.C1948A												57.0	58.0	58.0					17																	4086823		2080	4203	6283	SO:0001583	missense	51479	exon14			CCAGCAGCTGGGC	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1822C>A	17.37:g.4086823G>T	ENSP00000343362:p.Leu608Met		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_001257999	7	0.00	0	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37		.	.	.	.	.	.	.	.	.	.	G	34	5.343753	0.95807	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	D	0.83992	-1.79	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	D	0.93588	0.7953	M	0.93462	3.42	0.80722	D	1	D;P;P;D	0.89917	1.0;0.942;0.928;0.959	D;P;P;P	0.87578	0.998;0.867;0.79;0.79	D	0.95036	0.8174	10	0.87932	D	0	-5.3278	18.0864	0.89458	0.0:0.0:1.0:0.0	.	549;608;608;650	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	M	608;549	ENSP00000343362:L608M	ENSP00000343362:L608M	L	-	1	2	ANKFY1	4033572	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.491000	0.66887	2.503000	0.84419	0.655000	0.94253	CTG			0.587	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000438702.1		NM_016376	
DNAH2	146754	broad.mit.edu	37	17	7661813	7661813	+	Splice_Site	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:7661813G>T	ENST00000572933.1	+	14	3512	c.2052G>T	c.(2050-2052)agG>agT	p.R684S	DNAH2_ENST00000389173.2_Splice_Site_p.R684S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	684	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTATGCACAGGATTATTGCCA	0.502																																					p.R684S													.	DNAH2	498		0			c.G2052T												150.0	150.0	150.0					17																	7661813		2203	4300	6503	SO:0001630	splice_region_variant	146754	exon13			GCACAGGATTATT	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2052-1G>T	17.37:g.7661813G>T			Somatic	109	0	0		WXS	Illumina HiSeq	Phase_I	108	0.04	4	NM_020877	0		0	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571877	0.28003	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.55413	0.52	5.91	3.94	0.45596	Dynein heavy chain, domain-1 (1);	0.105028	0.64402	D	0.000007	T	0.47002	0.1422	L	0.60957	1.885	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.34551	-0.9824	9	.	.	.	.	11.4963	0.50410	0.1465:0.0:0.8535:0.0	.	684	Q9P225	DYH2_HUMAN	S	684	ENSP00000373825:R684S	.	R	+	3	2	DNAH2	7602538	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.594000	0.46189	0.848000	0.35191	0.555000	0.69702	AGG			0.502	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440241.1		NM_020877	Missense_Mutation
GUCY2D	3000	mdanderson.org	37	17	7907368	7907368	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:7907368C>T	ENST00000254854.4	+	3	1070	c.920C>T	c.(919-921)gCc>gTc	p.A307V		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	307					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GCCCACGATGCCGTGCTCACC	0.672																																					p.A307V													.	.			0			c.C920T												66.0	69.0	68.0					17																	7907368		2203	4299	6502	SO:0001583	missense	3000	exon3			ACGATGCCGTGCT	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.920C>T	17.37:g.7907368C>T	ENSP00000254854:p.Ala307Val		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	15	0.13	2	NM_000180	0		0	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970782	0.92919	.	.	ENSG00000132518	ENST00000254854	D	0.84298	-1.83	4.63	4.63	0.57726	Extracellular ligand-binding receptor (1);	0.000000	0.47093	D	0.000254	D	0.92192	0.7524	M	0.81802	2.56	0.48830	D	0.999711	D	0.76494	0.999	D	0.73380	0.98	D	0.93141	0.6541	10	0.66056	D	0.02	.	16.443	0.83907	0.0:1.0:0.0:0.0	.	307	Q02846	GUC2D_HUMAN	V	307	ENSP00000254854:A307V	ENSP00000254854:A307V	A	+	2	0	GUCY2D	7848093	0.999000	0.42202	0.979000	0.43373	0.712000	0.41017	4.346000	0.59367	2.420000	0.82092	0.561000	0.74099	GCC			0.672	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226973.2			
EVPLL	645027	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	18286644	18286644	+	Missense_Mutation	SNP	C	C	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:18286644C>A	ENST00000399134.4	+	8	1090	c.732C>A	c.(730-732)gaC>gaA	p.D244E	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	244										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGGAGGAGGACGGCAAGCGCA	0.701																																					p.D244E													.	.			0			c.C732A												30.0	37.0	35.0					17																	18286644		691	1591	2282	SO:0001583	missense	645027	exon8			GGAGGACGGCAAG		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.732C>A	17.37:g.18286644C>A	ENSP00000382086:p.Asp244Glu		Somatic	57	0	0		WXS	Illumina HiSeq	.	32	0.38	12	NM_001145127	0		0	B4DPD4	Missense_Mutation	SNP	ENST00000399134.4	37	CCDS45626.1	.	.	.	.	.	.	.	.	.	.	.	9.108	1.005890	0.19199	.	.	ENSG00000214860	ENST00000399134	T	0.29655	1.56	0.505	0.505	0.16953	.	.	.	.	.	T	0.38374	0.1038	L	0.48642	1.525	0.25778	N	0.984761	D	0.67145	0.996	D	0.77004	0.989	T	0.28396	-1.0045	8	0.06891	T	0.86	.	.	.	.	.	244	A8MZ36	EVPLL_HUMAN	E	244	ENSP00000382086:D244E	ENSP00000382086:D244E	D	+	3	2	EVPLL	18227369	0.726000	0.28059	0.975000	0.42487	0.047000	0.14425	-1.320000	0.02700	0.554000	0.29061	0.089000	0.15464	GAC			0.701	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000130836.2		NM_001145127	
KRT17P2	339241	broad.mit.edu;mdanderson.org	37	17	18332331	18332331	+	RNA	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr17:18332331C>T	ENST00000326333.8	+	0	760									keratin 17 pseudogene 2																		AGAGCCGACCCGGAGATGCAC	0.607																																					.													.	.			0			.																																											0	.			CCGACCCGGAGAT			17p11.2	2013-06-25			ENSG00000186831	ENSG00000186831			6429	pseudogene	pseudogene						1281771	Standard	NG_002778		Approved				OTTHUMG00000059248		17.37:g.18332331C>T			Somatic	163	0.0061349693	1		WXS	Illumina HiSeq	Phase_I	51	0.14	7	.	0		0		RNA	SNP	ENST00000326333.8	37		.	.	.	.	.	.	.	.	.	.	c	5.214	0.225079	0.09916	.	.	ENSG00000186831	ENST00000300992	.	.	.	2.87	2.87	0.33458	.	0.000000	0.35040	N	0.003494	T	0.16642	0.0400	.	.	.	.	.	.	.	.	.	.	.	.	T	0.35549	-0.9784	5	0.02654	T	1	.	6.4177	0.21725	0.0:0.133:0.0:0.867	.	.	.	.	L	206	.	ENSP00000300992:P206L	P	+	2	0	AL353997.5	18273056	1.000000	0.71417	0.998000	0.56505	0.193000	0.23685	6.217000	0.72218	0.158000	0.19367	-1.461000	0.01025	CCG			0.607	KRT17P2-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000446573.1		NG_002778	
GRP	2922	broad.mit.edu	37	18	56887556	56887556	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr18:56887556delG	ENST00000256857.2	+	1	157	c.59delG	c.(58-60)cggfs	p.R20fs	GRP_ENST00000529320.2_Frame_Shift_Del_p.R20fs|GRP_ENST00000420468.2_Frame_Shift_Del_p.R20fs	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	20					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				CTGGCGCCCCGGGGGCGAGCG	0.756																																					p.R20fs													.	GRP	17		0			c.59delG												3.0	4.0	4.0					18																	56887556		1956	3802	5758	SO:0001589	frameshift_variant	2922	exon1			CGCCCCGGGGGCG		CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"""Endogenous ligands"""	4605	protein-coding gene	gene with protein product	"""bombesin"", ""neuromedin C"", ""prepro-GRP"""	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.59delG	18.37:g.56887556delG	ENSP00000256857:p.Arg20fs		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	NM_001012512	9	0.00	0	P07491|P81553|Q14454|Q53YA0|Q9BSY7	Frame_Shift_Del	DEL	ENST00000256857.2	37	CCDS11971.1																																																																																					0.756	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256131.2		NM_002091	
REEP6	92840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	1496340	1496340	+	Silent	SNP	G	G	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr19:1496340G>A	ENST00000233596.3	+	4	509	c.405G>A	c.(403-405)ctG>ctA	p.L135L		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	135					regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CTCTCATGCTGTATCAGCGCG	0.667																																					p.L135L													.	.			0			c.G405A												80.0	70.0	74.0					19																	1496340		2202	4298	6500	SO:0001819	synonymous_variant	92840	exon4			CATGCTGTATCAG	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.405G>A	19.37:g.1496340G>A			Somatic	47	0	0		WXS	Illumina HiSeq	.	50	0.24	12	NM_138393	53	0.36	19	B2RE01|D6W5Z0|Q96LM0	Silent	SNP	ENST00000233596.3	37	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530039	0.45073	.	.	ENSG00000115255	ENST00000395484	.	.	.	4.97	-6.28	0.02020	.	.	.	.	.	T	0.48840	0.1522	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52646	-0.8548	5	0.28530	T	0.3	-0.7922	8.7561	0.34645	0.2892:0.5137:0.1971:0.0	.	.	.	.	I	203	.	ENSP00000378865:V203I	V	+	1	0	REEP6	1447340	0.846000	0.29590	0.018000	0.16275	0.003000	0.03518	-0.106000	0.10890	-0.824000	0.04295	-1.132000	0.01976	GTA			0.667	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449623.1		NM_138393	
MRI1	84245	mdanderson.org	37	19	13879417	13879417	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr19:13879417C>T	ENST00000040663.6	+	4	630	c.590C>T	c.(589-591)gCc>gTc	p.A197V	MRI1_ENST00000319545.8_Intron	NM_001031727.2	NP_001026897.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTGGAGCATGCCTTCTGCACA	0.662																																					p.A197V													.	.			0			c.C590T												25.0	28.0	27.0					19																	13879417		2203	4300	6503	SO:0001583	missense	84245	exon4			AGCATGCCTTCTG		CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"""mediator of RhoA-dependent invasion"", ""S-methyl-5-thioribose-1-phosphate isomerase 1"""	615105	"""methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"""			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000040663.6:c.590C>T	19.37:g.13879417C>T	ENSP00000040663:p.Ala197Val		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	30	0.10	3	NM_001031727	31	0.00	0		Missense_Mutation	SNP	ENST00000040663.6	37	CCDS32923.1	.	.	.	.	.	.	.	.	.	.	C	1.437	-0.568746	0.03910	.	.	ENSG00000037757	ENST00000040663	D	0.83591	-1.74	5.43	0.382	0.16234	.	0.251127	0.38436	N	0.001683	T	0.55049	0.1896	N	0.04018	-0.295	0.24949	N	0.991807	B	0.06786	0.001	B	0.15052	0.012	T	0.48479	-0.9032	10	0.02654	T	1	-8.6623	6.8052	0.23774	0.0:0.4886:0.0:0.5114	.	197	Q9BV20	MTNA_HUMAN	V	197	ENSP00000040663:A197V	ENSP00000040663:A197V	A	+	2	0	MRI1	13740417	1.000000	0.71417	0.645000	0.29479	0.047000	0.14425	4.343000	0.59348	0.359000	0.24239	-0.216000	0.12614	GCC			0.662	MRI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453424.1		NM_032285	
TMC4	147798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	54668249	54668249	+	Silent	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr19:54668249C>T	ENST00000376591.4	-	7	1181	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Silent_p.L344L|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	350					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAGGTTGAGCAGCACCCGCA	0.672																																					p.L350L													.	.			0			c.G1050A												92.0	98.0	96.0					19																	54668249		2203	4300	6503	SO:0001819	synonymous_variant	147798	exon7			GTTGAGCAGCACC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1050G>A	19.37:g.54668249C>T			Somatic	68	0	0		WXS	Illumina HiSeq	.	62	0.32	20	NM_001145303	5	0.40	2	Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	CCDS46174.1																																																																																					0.672	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000156164.2			
TMEM190	147744	mdanderson.org	37	19	55889031	55889031	+	Silent	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr19:55889031C>T	ENST00000291934.3	+	3	183	c.165C>T	c.(163-165)tgC>tgT	p.C55C	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	55	P-type.				hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCAACCTCTGCCTGCGTCTCC	0.672																																					p.C55C													.	.			0			c.C165T												82.0	85.0	84.0					19																	55889031		2203	4300	6503	SO:0001819	synonymous_variant	147744	exon3			CCTCTGCCTGCGT	AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.165C>T	19.37:g.55889031C>T			Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_139172	7	0.00	0	A6NJL5	Silent	SNP	ENST00000291934.3	37	CCDS33113.1																																																																																					0.672	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453042.1		NM_139172	
NLRC4	58484	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	32476309	32476309	+	Silent	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr2:32476309G>T	ENST00000404025.2	-	5	1112	c.624C>A	c.(622-624)gcC>gcA	p.A208A	NLRC4_ENST00000402280.1_Silent_p.A208A|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Silent_p.A208A			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	208	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTCCACCCTGGGCCCTGCTGA	0.537																																					p.A208A													.	.			0			c.C624A												61.0	64.0	63.0					2																	32476309		2203	4300	6503	SO:0001819	synonymous_variant	58484	exon4			ACCCTGGGCCCTG	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.624C>A	2.37:g.32476309G>T			Somatic	92	0	0		WXS	Illumina HiSeq	.	113	0.31	35	NM_001199138	1	1.00	1	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	CCDS33174.1																																																																																					0.537	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325222.2		NM_021209	
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	84852104	84852104	+	Missense_Mutation	SNP	A	A	C			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr2:84852104A>C	ENST00000237449.6	+	28	4440	c.4432A>C	c.(4432-4434)Aaa>Caa	p.K1478Q	DNAH6_ENST00000389394.3_Missense_Mutation_p.K1478Q|DNAH6_ENST00000398278.2_Missense_Mutation_p.K1478Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1478	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGGCACTGGGAAAACAGAGAC	0.488																																					p.K1478Q													.	.			0			c.A4432C												93.0	86.0	89.0					2																	84852104		692	1591	2283	SO:0001583	missense	1768	exon29			ACTGGGAAAACAG	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.4432A>C	2.37:g.84852104A>C	ENSP00000237449:p.Lys1478Gln		Somatic	170	0	0		WXS	Illumina HiSeq	.	174	0.30	53	NM_001370	0		0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.749807	0.89753	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	D;D;D	0.85773	-2.03;-2.03;-2.03	5.73	5.73	0.89815	ATPase, AAA+ type, core (1);	.	.	.	.	D	0.95865	0.8654	H	0.99143	4.445	0.50313	D	0.999861	D	0.89917	1.0	D	0.97110	1.0	D	0.97665	1.0163	9	0.87932	D	0	.	14.9998	0.71462	1.0:0.0:0.0:0.0	.	1478	Q9C0G6	DYH6_HUMAN	Q	1478	ENSP00000374045:K1478Q;ENSP00000381326:K1478Q;ENSP00000237449:K1478Q	ENSP00000237449:K1478Q	K	+	1	0	DNAH6	84705615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.063000	0.93927	2.181000	0.69327	0.533000	0.62120	AAA			0.488	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328537.2		NM_001370	
TRIM43	129868	broad.mit.edu	37	2	96261953	96261953	+	Missense_Mutation	SNP	A	A	G	rs200030895		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr2:96261953A>G	ENST00000272395.2	+	4	647	c.511A>G	c.(511-513)Aat>Gat	p.N171D		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	171						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCTACAGGGCAATGTGGTTTT	0.423																																					p.N171D													.	TRIM43	51		0			c.A511G												68.0	63.0	65.0					2																	96261953		2190	4293	6483	SO:0001583	missense	129868	exon4			CAGGGCAATGTGG	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.511A>G	2.37:g.96261953A>G	ENSP00000272395:p.Asn171Asp		Somatic	251	0	0		WXS	Illumina HiSeq	Phase_I	283	0.06	17	NM_138800	0		0	Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	4.895	0.166249	0.09339	.	.	ENSG00000144015	ENST00000272395	T	0.04317	3.65	1.4	-1.35	0.09114	.	.	.	.	.	T	0.01523	0.0049	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45789	-0.9237	9	0.19147	T	0.46	1.3668	0.091	0.00039	0.2447:0.187:0.2522:0.3161	.	171	Q96BQ3	TRI43_HUMAN	D	171	ENSP00000272395:N171D	ENSP00000272395:N171D	N	+	1	0	TRIM43	95625680	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.734000	0.00803	-0.918000	0.03808	-2.760000	0.00122	AAT			0.423	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252784.1		NM_138800	
HDAC4	9759	mdanderson.org	37	2	240111669	240111669	+	Missense_Mutation	SNP	G	G	A	rs376138478		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr2:240111669G>A	ENST00000345617.3	-	4	990	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	HDAC4_ENST00000541256.1_Missense_Mutation_p.R36W	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	67					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGCTGCTCCCGCAGGGCCGGC	0.662																																					p.R67W													.	.			0			c.C199T							G	TRP/ARG	0,4402		0,0,2201	24.0	25.0	25.0		199	4.4	0.9	2		25	1,8585		0,1,4292	no	missense	HDAC4	NM_006037.3	101	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	67/1085	240111669	1,12987	2201	4293	6494	SO:0001583	missense	9759	exon4			GCTCCCGCAGGGC	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.199C>T	2.37:g.240111669G>A	ENSP00000264606:p.Arg67Trp		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	28	0.11	3	NM_006037	0		0	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291318	0.59976	0.0	1.16E-4	ENSG00000068024	ENST00000345617;ENST00000541256;ENST00000454542;ENST00000446876	T;T;T;T	0.60797	0.16;1.33;0.8;0.76	4.42	4.42	0.53409	Histone deacetylase, glutamine rich N-terminal domain (1);	0.428985	0.22918	N	0.054055	T	0.62514	0.2434	L	0.31476	0.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;P;D;D;D	0.74348	0.983;0.806;0.916;0.916;0.916	T	0.59648	-0.7415	9	.	.	.	.	12.522	0.56065	0.0:0.0:0.8332:0.1668	.	62;36;36;35;67	B7Z8G5;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;HDAC4_HUMAN	W	67;36;36;40	ENSP00000264606:R67W;ENSP00000443057:R36W;ENSP00000405226:R36W;ENSP00000392912:R40W	.	R	-	1	2	HDAC4	239776606	0.995000	0.38212	0.925000	0.36789	0.339000	0.28857	5.053000	0.64269	2.207000	0.71202	0.655000	0.94253	CGG			0.662	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257174.2		NM_006037	
ZNF217	7764	hgsc.bcm.edu;mdanderson.org	37	20	52199327	52199327	+	Silent	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr20:52199327G>T	ENST00000371471.2	-	2	464	c.39C>A	c.(37-39)tcC>tcA	p.S13S	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Silent_p.S13S			O75362	ZN217_HUMAN	zinc finger protein 217	13					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACATTAAGAGGGATTGAGTTG	0.463																																					p.S13S													.	.			0			c.C39A												98.0	95.0	96.0					20																	52199327		2203	4300	6503	SO:0001819	synonymous_variant	7764	exon1			TAAGAGGGATTGA	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.39C>A	20.37:g.52199327G>T			Somatic	56	0	0		WXS	Illumina HiSeq	.	91	0.04	4	NM_006526	8	0.00	0	E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	CCDS13443.1																																																																																					0.463	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079757.2		NM_006526	
SLC2A4RG	56731	mdanderson.org	37	20	62374111	62374111	+	Silent	SNP	C	C	A	rs563472148		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr20:62374111C>A	ENST00000266077.2	+	7	1072	c.1020C>A	c.(1018-1020)ccC>ccA	p.P340P	RP4-583P15.10_ENST00000433905.2_RNA|RP4-583P15.10_ENST00000447343.2_RNA|SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	340					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)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTGCCCACCCGCCTTGTCCT	0.701																																					p.P340P													.	.			0			c.C1020A												13.0	15.0	14.0					20																	62374111		2180	4289	6469	SO:0001819	synonymous_variant	56731	exon7			CCCACCCGCCTTG	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.1020C>A	20.37:g.62374111C>A			Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	30	0.10	3	NM_020062	217	0.00	0	Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Silent	SNP	ENST00000266077.2	37	CCDS13537.1																																																																																					0.701	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080202.1		NM_020062	
SCAF4	57466	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	33044299	33044310	+	In_Frame_Del	DEL	GCTGTGGCTGCT	GCTGTGGCTGCT	-	rs535235907		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	GCTGTGGCTGCT	GCTGTGGCTGCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr21:33044299_33044310delGCTGTGGCTGCT	ENST00000286835.7	-	20	3228_3239	c.2846_2857delAGCAGCCACAGC	c.(2845-2859)cagcagccacagccg>ccg	p.QQPQ949del	SCAF4_ENST00000434667.3_In_Frame_Del_p.QQPQ934del|SCAF4_ENST00000399804.1_In_Frame_Del_p.QQPQ927del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	949						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ggcgcctgcggctgtggctgctgctgtggctg	0.651																																					p.949_953del													.	SCAF4	142		0			c.2847_2858del								,,	3,4237		0,3,2117					,,	-2.3	0.3			39	5,8193		1,3,4095	no	coding,coding,coding	SCAF4	NM_020706.2,NM_001145445.1,NM_001145444.1	,,	1,6,6212	A1A1,A1R,RR		0.061,0.0708,0.0643	,,	,,		8,12430				SO:0001651	inframe_deletion	57466	exon20			CCTGCGGCTGTGG	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2846_2857delAGCAGCCACAGC	21.37:g.33044299_33044310delGCTGTGGCTGCT	ENSP00000286835:p.Gln949_Gln952del		Somatic	49	0	0		WXS	Illumina HiSeq	.	93	0.38	35	NM_020706	90	0.00	0	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Del	DEL	ENST00000286835.7	37	CCDS33537.1																																																																																					0.651	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000192659.1		XM_047889	
CBS	875	hgsc.bcm.edu;mdanderson.org	37	21	44479351	44479351	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr21:44479351G>T	ENST00000398165.3	-	13	1467	c.1208C>A	c.(1207-1209)aCg>aAg	p.T403K	CBS_ENST00000398168.1_Missense_Mutation_p.T403K|CBS_ENST00000398158.1_Missense_Mutation_p.T403K|CBS_ENST00000544202.1_Missense_Mutation_p.T315K|CBS_ENST00000352178.5_Missense_Mutation_p.T403K|CBS_ENST00000359624.3_Missense_Mutation_p.T403K	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	403					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	CTTCTTCTCCGTGAGGTCCTC	0.667																																					p.T403K													.	.			0			c.C1208A												78.0	76.0	77.0					21																	44479351		2203	4300	6503	SO:0001583	missense	875	exon13			TTCTCCGTGAGGT	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1208C>A	21.37:g.44479351G>T	ENSP00000381231:p.Thr403Lys		Somatic	48	0	0		WXS	Illumina HiSeq	.	76	0.05	4	NM_000071	119	0.01	1	B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	G	0.657	-0.807357	0.02819	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202	D;D;D;D;D;D	0.99760	-5.76;-5.76;-5.76;-5.76;-5.75;-6.66	4.6	-4.6	0.03390	.	1.274230	0.05191	N	0.503174	D	0.98277	0.9429	L	0.29908	0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.99960	1.1713	10	0.06099	T	0.92	0.05	12.5384	0.56154	0.6438:0.0:0.3562:0.0	.	403;403;360	P35520-2;P35520;B7Z2D6	.;CBS_HUMAN;.	K	403;403;403;403;403;360;315	ENSP00000381225:T403K;ENSP00000381231:T403K;ENSP00000352643:T403K;ENSP00000344460:T403K;ENSP00000381234:T403K;ENSP00000439332:T315K	ENSP00000344460:T403K	T	-	2	0	CBS	43352420	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.328000	0.07945	-0.869000	0.04052	-1.265000	0.01443	ACG			0.667	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195525.1		NM_000071	
KRTAP10-10	353333	mdanderson.org	37	21	46058034	46058034	+	Missense_Mutation	SNP	G	G	A	rs142158982	byFrequency	TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr21:46058034G>A	ENST00000380095.1	+	1	762	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	234						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCCGCCCCGTGTGCTCCCG	0.692																																					p.V234M													.	.			0			c.G700A							G	,MET/VAL	54,4352		0,54,2149	54.0	58.0	57.0		,700	-2.9	0.0	21	dbSNP_134	57	16,8582		0,16,4283	no	intron,missense	TSPEAR,KRTAP10-10	NM_144991.2,NM_181688.1	,21	0,70,6432	AA,AG,GG		0.1861,1.2256,0.5383	,possibly-damaging	,234/252	46058034	70,12934	2203	4299	6502	SO:0001583	missense	353333	exon1			CGCCCCGTGTGCT	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.700G>A	21.37:g.46058034G>A	ENSP00000369438:p.Val234Met		Somatic	43	0.023255814	1		WXS	Illumina HiSeq	Phase_I	85	0.07	6	NM_181688	0		0		Missense_Mutation	SNP	ENST00000380095.1	37	CCDS33585.1	94	0.04304029304029304	28	0.056910569105691054	7	0.019337016574585635	29	0.050699300699300696	30	0.0395778364116095	g	0.883	-0.728095	0.03135	0.012256	0.001861	ENSG00000221859	ENST00000380095	T	0.01215	5.16	3.52	-2.88	0.05682	.	.	.	.	.	T	0.00241	0.0007	M	0.71206	2.165	0.09310	N	1	B	0.20459	0.045	B	0.20955	0.032	T	0.38178	-0.9673	9	0.42905	T	0.14	.	5.1831	0.15171	0.3582:0.0:0.4952:0.1466	.	234	P60014	KR10A_HUMAN	M	234	ENSP00000369438:V234M	ENSP00000369438:V234M	V	+	1	0	KRTAP10-10	44882462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.581000	0.02119	-0.564000	0.06070	-1.314000	0.01303	GTG			0.692	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000128034.1		NM_181688	
IL17RA	23765	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	22	17584446	17584446	+	Silent	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr22:17584446G>T	ENST00000319363.6	+	8	958	c.825G>T	c.(823-825)ggG>ggT	p.G275G		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	275					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCTTAAAGGGTGCTGTCGCC	0.557																																					p.G275G													.	.			0			c.G825T												106.0	65.0	79.0					22																	17584446		2203	4300	6503	SO:0001819	synonymous_variant	23765	exon8			TAAAGGGTGCTGT	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.825G>T	22.37:g.17584446G>T			Somatic	63	0	0		WXS	Illumina HiSeq	.	83	0.07	6	NM_014339	12	0.17	2	O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	CCDS13739.1																																																																																					0.557	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000315820.1		NM_014339	
GGT3P	2679	broad.mit.edu	37	22	18778609	18778609	+	RNA	SNP	C	C	T	rs499895		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr22:18778609C>T	ENST00000412448.1	-	0	796							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TCCGCGGCCACGGCAGCCCTG	0.632																																					.													.	.			0			.																																											0	.			CGGCCACGGCAGC			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778609C>T			Somatic	897	0.0022296544	2		WXS	Illumina HiSeq	Phase_I	775	0.01	8	.	1	0.00	0		RNA	SNP	ENST00000412448.1	37																																																																																						0.632	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000341281.1		NR_003267	
MTMR3	8897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	30416250	30416250	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr22:30416250C>T	ENST00000401950.2	+	17	2944	c.2602C>T	c.(2602-2604)Ctt>Ttt	p.L868F	MTMR3_ENST00000406629.1_Missense_Mutation_p.L868F|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.L868F|MTMR3_ENST00000351488.3_Missense_Mutation_p.L868F|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.L732F	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	868					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TAGATCTTGCCTTGTAAATAG	0.512																																					p.L868F													.	.			0			c.C2602T												68.0	65.0	66.0					22																	30416250		2203	4300	6503	SO:0001583	missense	8897	exon17			TCTTGCCTTGTAA	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2602C>T	22.37:g.30416250C>T	ENSP00000384651:p.Leu868Phe		Somatic	68	0	0		WXS	Illumina HiSeq	.	96	0.40	38	NM_153050	13	0.31	4	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427263	0.25726	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94723	-3.29;-3.27;-3.5;-3.32;-3.27	5.19	4.17	0.49024	.	4.193610	0.00166	N	0.000014	D	0.94003	0.8079	N	0.19112	0.55	0.20307	N	0.999911	D;P;D	0.54964	0.969;0.948;0.969	P;P;P	0.57620	0.824;0.671;0.824	D	0.85382	0.1120	10	0.15066	T	0.55	.	13.0586	0.58994	0.0:0.922:0.0:0.078	.	868;868;868	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	F	868;868;732;868;868	ENSP00000384651:L868F;ENSP00000331649:L868F;ENSP00000318070:L732F;ENSP00000307271:L868F;ENSP00000384077:L868F	ENSP00000318070:L732F	L	+	1	0	MTMR3	28746250	0.005000	0.15991	0.072000	0.20136	0.008000	0.06430	1.145000	0.31577	1.312000	0.45043	0.655000	0.94253	CTT			0.512	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000322066.1		NM_021090	
NDUFA6-AS1	100132273	broad.mit.edu;ucsc.edu	37	22	42538017	42538017	+	RNA	SNP	G	G	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr22:42538017G>A	ENST00000416037.2	+	0	8970				RP4-669P10.16_ENST00000428786.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA	NR_034118.1				NDUFA6 antisense RNA 1 (head to head)																		GCCAGCCAGCGCTGGGATGTG	0.597																																					.													.	CYP2D7P1	8		0			.																																											0	.			GCCAGCGCTGGGA	BC039542		22q13.2	2013-03-18	2013-03-18		ENSG00000237037	ENSG00000237037		"""Long non-coding RNAs"""	45273	non-coding RNA	RNA, long non-coding							Standard	NR_034118		Approved		uc003bcd.1		OTTHUMG00000150917		22.37:g.42538017G>A			Somatic	141	0.0070921986	1		WXS	Illumina HiSeq	Phase_I	118	0.20	24	.	6	0.33	2		RNA	SNP	ENST00000416037.2	37		.	.	.	.	.	.	.	.	.	.	g	2.136	-0.398006	0.04865	.	.	ENSG00000205702	ENST00000428297;ENST00000354609;ENST00000381321;ENST00000436260	.	.	.	3.13	0.918	0.19386	.	0.070934	0.64402	D	0.000017	T	0.21631	0.0521	.	.	.	0.21861	N	0.999502	P;B	0.34977	0.478;0.108	B;B	0.32465	0.146;0.015	T	0.13361	-1.0512	7	.	.	.	.	9.1558	0.36992	0.0:0.5564:0.4436:0.0	.	235;145	Q6XP50;F5H167	.;.	V	234;183;181;145	.	.	A	-	2	0	CYP2D7P1	40867961	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	0.369000	0.20416	0.331000	0.23511	-0.514000	0.04452	GCG			0.597	NDUFA6-AS1-001	KNOWN	basic|exp_conf	antisense	processed_transcript		OTTHUMT00000320522.4		NR_034118	
FANCD2	2177	ucsc.edu	37	3	10091153	10091153	+	Silent	SNP	C	C	T	rs35652360	byFrequency	TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr3:10091153C>T	ENST00000419585.1	+	17	1670	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	FANCD2_ENST00000383807.1_Silent_p.N503N|FANCD2_ENST00000287647.3_Silent_p.N503N|FANCD2_ENST00000383806.1_Silent_p.N503N			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	503					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TAGTGTTAAACCCATCTGCTA	0.408			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.N503N			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	FANCD2	253		0			c.C1509T												237.0	256.0	249.0					3																	10091153		2201	4296	6497	SO:0001819	synonymous_variant	2177	exon17	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	GTTAAACCCATCT	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1509C>T	3.37:g.10091153C>T			Somatic	53	0.2264150943	12		WXS	Illumina HiSeq		57	0.28	16	NM_001018115	1	0.00	0	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	CCDS33696.1																																																																																					0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339873.1			
SLC26A6	65010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	48663665	48663665	+	Missense_Mutation	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr3:48663665C>T	ENST00000395550.2	-	20	2298	c.2251G>A	c.(2251-2253)Gac>Aac	p.D751N	SLC26A6_ENST00000455886.2_Missense_Mutation_p.D715N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D750N|SLC26A6_ENST00000358747.6_Missense_Mutation_p.D730N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D643N|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D732N			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	751					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		ACAGGGCTGTCGGGGACAGGC	0.562																																					p.D751N	NSCLC(13;369 479 28271 30152 44026)												.	.			0			c.G2251A												72.0	80.0	77.0					3																	48663665		2023	4176	6199	SO:0001583	missense	65010	exon20			GGCTGTCGGGGAC	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.2251G>A	3.37:g.48663665C>T	ENSP00000378920:p.Asp751Asn		Somatic	100	0	0		WXS	Illumina HiSeq	.	118	0.31	37	NM_022911	74	0.31	23	B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043552	0.19748	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	D;D;D;D;D;D	0.92545	-2.93;-2.93;-3.04;-2.94;-2.94;-3.06	5.74	-3.72	0.04411	.	.	.	.	.	D	0.82435	0.5036	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B;B;B	0.29671	0.053;0.254;0.088;0.008;0.005;0.002;0.063	B;B;B;B;B;B;B	0.17098	0.005;0.017;0.012;0.002;0.001;0.001;0.011	T	0.66559	-0.5893	9	0.44086	T	0.13	.	12.8012	0.57586	0.0:0.4887:0.0:0.5113	.	715;745;643;732;750;751;4137	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	N	750;751;732;643;745;730;715	ENSP00000404684:D750N;ENSP00000378920:D751N;ENSP00000373239:D732N;ENSP00000337648:D643N;ENSP00000351597:D730N;ENSP00000401066:D715N	ENSP00000337648:D643N	D	-	1	0	SLC26A6	48638669	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.618000	0.05578	-0.524000	0.06400	-0.229000	0.12294	GAC			0.562	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000345040.1		NM_022911	
MFSD7	84179	mdanderson.org	37	4	675970	675970	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr4:675970G>T	ENST00000404286.2	-	10	1475	c.1460C>A	c.(1459-1461)aCg>aAg	p.T487K	MFSD7_ENST00000515118.1_Missense_Mutation_p.T390K|MFSD7_ENST00000503156.1_Silent_p.R409R|MFSD7_ENST00000347950.5_Missense_Mutation_p.T368K|MFSD7_ENST00000322224.4_Missense_Mutation_p.T486K	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	487					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CGGAGTCGCCGTGCTGGGCCC	0.761																																					p.T486K													.	.			0			c.C1457A																																									SO:0001583	missense	84179	exon10			GTCGCCGTGCTGG	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1460C>A	4.37:g.675970G>T	ENSP00000384616:p.Thr487Lys		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	15	0.13	2	NM_032219	22	0.00	0	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37		.	.	.	.	.	.	.	.	.	.	G	3.536	-0.094786	0.07053	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	D;D;D;D	0.95885	-3.53;-2.99;-3.0;-3.84	1.9	-3.81	0.04294	.	.	.	.	.	D	0.87180	0.6113	N	0.14661	0.345	0.09310	N	0.999995	B;B;B;B	0.15473	0.013;0.013;0.004;0.008	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.73232	-0.4048	9	0.41790	T	0.15	.	5.7614	0.18203	0.2051:0.3674:0.4275:0.0	.	390;368;487;486	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	K	368;486;487;390	ENSP00000307545:T368K;ENSP00000320234:T486K;ENSP00000384616:T487K;ENSP00000423204:T390K	ENSP00000320234:T486K	T	-	2	0	MFSD7	665970	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.404000	0.00239	-1.585000	0.01634	-1.905000	0.00526	ACG			0.761	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000358585.1		NM_032219	
N4BP2	55728	broad.mit.edu	37	4	40099152	40099152	+	Missense_Mutation	SNP	T	T	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr4:40099152T>A	ENST00000261435.6	+	3	608	c.192T>A	c.(190-192)gaT>gaA	p.D64E		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	64	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGGATCCTGATGTAGTGTATT	0.393																																					p.D64E													.	N4BP2	166		0			c.T192A												134.0	134.0	134.0					4																	40099152		2203	4300	6503	SO:0001583	missense	55728	exon3			TCCTGATGTAGTG	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.192T>A	4.37:g.40099152T>A	ENSP00000261435:p.Asp64Glu		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_018177	1	0.00	0	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174557	0.78452	.	.	ENSG00000078177	ENST00000261435	T	0.27890	1.64	5.34	4.16	0.48862	Ubiquitin system component Cue (1);UBA-like (1);	0.287108	0.25099	N	0.033150	T	0.20861	0.0502	N	0.08118	0	0.24721	N	0.99314	D	0.55172	0.97	P	0.51833	0.681	T	0.06716	-1.0811	10	0.20046	T	0.44	.	8.2784	0.31885	0.0:0.1528:0.0:0.8472	.	64	Q86UW6	N4BP2_HUMAN	E	64	ENSP00000261435:D64E	ENSP00000261435:D64E	D	+	3	2	N4BP2	39775547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.089000	0.30890	0.878000	0.35920	0.528000	0.53228	GAT			0.393	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250458.2		NM_018177	
BEND4	389206	broad.mit.edu;mdanderson.org	37	4	42145560	42145560	+	Silent	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr4:42145560C>T	ENST00000502486.1	-	3	1518	c.939G>A	c.(937-939)gaG>gaA	p.E313E	BEND4_ENST00000504360.1_Silent_p.E309E	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	313										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						cctcctcctcctcttcTGGCA	0.512																																					p.E313E													.	BEND4	67		0			c.G939A												44.0	40.0	41.0					4																	42145560		2021	4172	6193	SO:0001819	synonymous_variant	389206	exon3			CTCCTCCTCTTCT	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.939G>A	4.37:g.42145560C>T			Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	71	0.06	4	NM_001159547	0		0	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	ENST00000502486.1	37	CCDS47048.1																																																																																					0.512	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000360975.2		NM_207406	
PDHA2	5161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	96761797	96761797	+	Missense_Mutation	SNP	G	G	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr4:96761797G>A	ENST00000295266.4	+	1	559	c.496G>A	c.(496-498)Ggt>Agt	p.G166S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	166					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TGGCATCGTCGGTGCACAGGG	0.507																																					p.G166S													PDHA2,NS,carcinoma,0,1	PDHA2	0	1	0			c.G496A												67.0	70.0	69.0					4																	96761797		2203	4300	6503	SO:0001583	missense	5161	exon1			ATCGTCGGTGCAC		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.496G>A	4.37:g.96761797G>A	ENSP00000295266:p.Gly166Ser		Somatic	57	0	0		WXS	Illumina HiSeq	.	31	0.39	12	NM_005390	0		0	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226337	0.58668	.	.	ENSG00000163114	ENST00000295266	D	0.98381	-4.9	4.67	4.67	0.58626	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99111	0.9694	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.99091	1.0840	10	0.87932	D	0	-13.8878	15.4624	0.75369	0.0:0.0:1.0:0.0	.	166	P29803	ODPAT_HUMAN	S	166	ENSP00000295266:G166S	ENSP00000295266:G166S	G	+	1	0	PDHA2	96980820	1.000000	0.71417	0.170000	0.22879	0.038000	0.13279	6.965000	0.76067	2.587000	0.87381	0.467000	0.42956	GGT			0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253608.1			
ELF2	1998	broad.mit.edu	37	4	140046335	140046335	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr4:140046335G>T	ENST00000394235.2	-	4	723	c.221C>A	c.(220-222)aCc>aAc	p.T74N	ELF2_ENST00000379550.1_Missense_Mutation_p.T74N|ELF2_ENST00000265495.4_Missense_Mutation_p.T74N	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CACATTCTCGGTCTCAACTTC	0.373																																					p.A74E													.	ELF2	43		0			c.C221A												199.0	188.0	192.0					4																	140046335		2203	4300	6503	SO:0001583	missense	1998	exon3			TTCTCGGTCTCAA	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.221C>A	4.37:g.140046335G>T	ENSP00000377782:p.Thr74Asn		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	103	0.04	4	NM_201999	20	0.00	0		Missense_Mutation	SNP	ENST00000394235.2	37	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813061	0.90707	.	.	ENSG00000109381	ENST00000394235;ENST00000379550;ENST00000265495	T;T;T	0.47177	0.85;0.85;0.85	5.88	5.88	0.94601	.	0.358447	0.30890	N	0.008678	T	0.68293	0.2985	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64054	-0.6497	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	74	Q15723-1	.	N	74	ENSP00000377782:T74N;ENSP00000368868:T74N;ENSP00000265495:T74N	.	T	-	2	0	ELF2	140265785	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.369000	0.79578	2.789000	0.95967	0.591000	0.81541	ACC			0.373	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257233.2		NM_006874	
OTUD4	54726	hgsc.bcm.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.H897H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																					p.H897H													OTUD4,bladder,carcinoma,0,2	OTUD4	0	2	0			c.T2691C												118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726	exon21			GGGAGGATGAGCC		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G			Somatic	88	0.0113636364	1		WXS	Illumina HiSeq	.	122	0.04	5	NM_001102653	14	0.00	0	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37																																																																																						0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000365117.2		NM_017493	
SKP2	6502	mdanderson.org	37	5	36168536	36168536	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr5:36168536G>T	ENST00000274255.6	+	5	854	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.D220Y|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCGGCTTTCGGATCCCATTGT	0.478																																					p.D220Y													SKP2_ENST00000274255,NS,carcinoma,0,1	SKP2_ENST00000274255	0	1	0			c.G658T												126.0	122.0	123.0					5																	36168536		2203	4300	6503	SO:0001583	missense	6502	exon5			CTTTCGGATCCCA	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.658G>T	5.37:g.36168536G>T	ENSP00000274255:p.Asp220Tyr		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_005983	30	0.00	0	A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074653	0.76415	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927	T;T	0.48201	0.82;0.82	5.43	5.43	0.79202	.	0.045126	0.85682	D	0.000000	T	0.75503	0.3858	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81671	-0.0827	10	0.87932	D	0	-21.8799	14.7508	0.69525	0.0:0.0:1.0:0.0	.	220;220	Q13309-2;Q13309	.;SKP2_HUMAN	Y	220;220;186	ENSP00000274254:D220Y;ENSP00000274255:D220Y	ENSP00000274254:D220Y	D	+	1	0	SKP2	36204293	1.000000	0.71417	0.893000	0.35052	0.977000	0.68977	7.154000	0.77437	2.538000	0.85594	0.563000	0.77884	GAT			0.478	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253769.2		NM_005983	
ATXN1	6310	mdanderson.org	37	6	16327894	16327894	+	Missense_Mutation	SNP	C	C	A	rs201040133	byFrequency	TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr6:16327894C>A	ENST00000244769.4	-	8	1584	c.648G>T	c.(646-648)caG>caT	p.Q216H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q216H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	216	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.662													-|||	41	0.0081869	0.0091	0.0014	5008	,	,		12664	0.0109		0.005	False		,,,				2504	0.0123				p.Q216H													.	.			0			c.G648T												4.0	8.0	7.0					6																	16327894		1839	3762	5601	SO:0001583	missense	6310	exon7			CTGCTGCTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.648G>T	6.37:g.16327894C>A	ENSP00000244769:p.Gln216His		Somatic	35	0.0285714286	1		WXS	Illumina HiSeq	Phase_I	39	0.10	4	NM_001128164	2	0.00	0	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	-	5.041	0.193181	0.09599	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.59906	0.23;0.23	.	.	.	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.28713	0.22	B	0.17979	0.02	T	0.14364	-1.0475	7	0.66056	D	0.02	.	.	.	.	.	216	P54253	ATX1_HUMAN	H	216	ENSP00000244769:Q216H;ENSP00000416360:Q216H	ENSP00000244769:Q216H	Q	-	3	2	ATXN1	16435873	0.005000	0.15991	0.008000	0.14137	0.119000	0.20118	-0.699000	0.05087	0.119000	0.18210	0.121000	0.15741	CAG			0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039943.3		NM_000332	
NACAD	23148	mdanderson.org	37	7	45123881	45123881	+	Missense_Mutation	SNP	C	C	T	rs61740891	byFrequency	TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:45123881C>T	ENST00000490531.2	-	2	1917	c.1898G>A	c.(1897-1899)gGc>gAc	p.G633D		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	633					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TAAGGTGAGGCCCTCTTCAGC	0.597																																					p.G633D													.	.			0			c.G1898A												5.0	6.0	6.0					7																	45123881		653	1543	2196	SO:0001583	missense	23148	exon2			GTGAGGCCCTCTT	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1898G>A	7.37:g.45123881C>T	ENSP00000420477:p.Gly633Asp		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	8	0.25	2	NM_001146334	5	0.00	0		Missense_Mutation	SNP	ENST00000490531.2	37	CCDS47582.1	.	.	.	.	.	.	.	.	.	.	c	0.018	-1.479272	0.01035	.	.	ENSG00000136274	ENST00000490531	T	0.15017	2.46	1.84	-3.68	0.04463	.	0.657660	0.11464	U	0.561462	T	0.07007	0.0178	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35375	-0.9791	10	0.11182	T	0.66	.	0.672	0.00860	0.245:0.2849:0.1227:0.3473	.	633	O15069	NACAD_HUMAN	D	633	ENSP00000420477:G633D	ENSP00000420477:G633D	G	-	2	0	NACAD	45090406	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-4.204000	0.00274	-3.230000	0.00209	-2.620000	0.00156	GGC	0.008		0.597	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353652.2		NM_001146334	
UPP1	7378	mdanderson.org	37	7	48139313	48139313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:48139313G>T	ENST00000331803.4	+	5	714	c.91G>T	c.(91-93)Gaa>Taa	p.E31*	UPP1_ENST00000341253.4_Nonsense_Mutation_p.E31*|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000395564.4_Nonsense_Mutation_p.E31*|UPP1_ENST00000482015.1_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	31					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AAAAATGAAAGAAGATATTCT	0.418																																					p.E31X													.	.			0			c.G91T												133.0	130.0	131.0					7																	48139313		2203	4300	6503	SO:0001587	stop_gained	7378	exon4			ATGAAAGAAGATA	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.91G>T	7.37:g.48139313G>T	ENSP00000330032:p.Glu31*		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_003364	2	0.00	0	D3DVM4|Q15362	Nonsense_Mutation	SNP	ENST00000331803.4	37	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	G	37	6.611714	0.97705	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	.	.	.	5.43	5.43	0.79202	.	0.098276	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-28.1289	18.2259	0.89917	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	ENSP00000330032:E31X	E	+	1	0	UPP1	48105838	1.000000	0.71417	0.992000	0.48379	0.888000	0.51559	6.010000	0.70753	2.531000	0.85337	0.563000	0.77884	GAA			0.418	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251360.1		NM_003364	
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	48654898	48654898	+	Missense_Mutation	SNP	C	C	G			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:48654898C>G	ENST00000435803.1	+	59	14786	c.14762C>G	c.(14761-14763)gCt>gGt	p.A4921G	ABCA13_ENST00000544596.1_Missense_Mutation_p.A651G	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4921	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGTGTGAGGCTCTTTGCACA	0.428																																					p.A4921G													.	.			0			c.C14762G												81.0	81.0	81.0					7																	48654898		1919	4134	6053	SO:0001583	missense	154664	exon59			GTGAGGCTCTTTG	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14762C>G	7.37:g.48654898C>G	ENSP00000411096:p.Ala4921Gly		Somatic	171	0	0		WXS	Illumina HiSeq	.	129	0.33	42	NM_152701	0		0	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691330	0.88735	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	T;T;T	0.39997	1.05;1.05;1.05	5.99	5.99	0.97316	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.126338	0.35772	N	0.002989	T	0.64136	0.2571	M	0.64630	1.985	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.994	T	0.64153	-0.6474	10	0.87932	D	0	.	17.9616	0.89087	0.0:1.0:0.0:0.0	.	651;2623;4921	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	G	4921;694;651	ENSP00000411096:A4921G;ENSP00000391042:A694G;ENSP00000442634:A651G	ENSP00000391042:A694G	A	+	2	0	ABCA13	48625444	1.000000	0.71417	0.733000	0.30861	0.698000	0.40448	7.136000	0.77285	2.842000	0.97951	0.655000	0.94253	GCT			0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341964.2		NM_152701	
MEPCE	56257	hgsc.bcm.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647																																					p.Q271H													MEPCE,NS,carcinoma,0,1	MEPCE	0	1	0			c.G813C												99.0	109.0	105.0					7																	100028454		2203	4300	6503	SO:0001583	missense	56257	exon1			CCACCAGCAGCAG	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.813G>C	7.37:g.100028454G>C	ENSP00000308546:p.Gln271His		Somatic	47	0.0212765957	1		WXS	Illumina HiSeq	.	40	0.05	2	NM_019606	15	0.00	0	B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840902	0.51057	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.62	2.81	0.32909	.	0.175162	0.36703	N	0.002459	T	0.22820	0.0551	N	0.22421	0.69	0.30375	N	0.782541	B	0.21225	0.053	B	0.14023	0.01	T	0.11470	-1.0586	9	0.24483	T	0.36	-0.6486	4.5225	0.11966	0.2002:0.1847:0.6151:0.0	.	271	Q7L2J0	MEPCE_HUMAN	H	271	.	ENSP00000308546:Q271H	Q	+	3	2	MEPCE	99866390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.904000	0.48719	0.565000	0.29255	0.462000	0.41574	CAG			0.647	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339135.1			
FOXP2	93986	mdanderson.org	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																					p.Q204Q													FOXP2,NS,carcinoma,0,6	FOXP2	0	6	1	Substitution - coding silent(1)	lung(1)	c.G612A												41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986	exon6			ACAACAGCAGCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A			Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	14	0.14	2	NM_148898	1	0.00	0	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	CCDS5760.1																																																																																					0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317366.1		NM_014491	
TRPV6	55503	bcgsc.ca	37	7	142573614	142573614	+	Missense_Mutation	SNP	G	G	T	rs201899094		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:142573614G>T	ENST00000359396.3	-	7	1051	c.806C>A	c.(805-807)aCg>aAg	p.T269K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	269					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGGTCCATACGTCCACTGGGT	0.532																																					p.T269K													.	TRPV6	108		0			c.C806A												213.0	161.0	178.0					7																	142573614		2203	4300	6503	SO:0001583	missense	55503	exon7			CCATACGTCCACT	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.806C>A	7.37:g.142573614G>T	ENSP00000352358:p.Thr269Lys		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_1	54	0.07	4	NM_018646	1	0.00	0	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101187	0.37048	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.41065	1.01	4.96	4.96	0.65561	.	0.169215	0.52532	D	0.000074	T	0.48132	0.1483	M	0.79123	2.44	0.35608	D	0.808432	B	0.27192	0.171	B	0.30495	0.116	T	0.56817	-0.7916	10	0.25106	T	0.35	-2.1715	17.227	0.86973	0.0:0.0:1.0:0.0	.	269	Q9H1D0	TRPV6_HUMAN	K	269;101	ENSP00000352358:T269K	ENSP00000310825:T101K	T	-	2	0	TRPV6	142283736	0.963000	0.33076	0.914000	0.36105	0.086000	0.17979	2.154000	0.42291	2.320000	0.78422	0.655000	0.94253	ACG			0.532	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347662.1		NM_014274	
KMT2C	58508	mdanderson.org	37	7	151962269	151962269	+	Silent	SNP	C	C	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr7:151962269C>T	ENST00000262189.6	-	8	1256	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	KMT2C_ENST00000355193.2_Silent_p.V346V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	346					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGCTGTCGCACACTGCACAGT	0.368																																					p.V346V													.	.			0			c.G1038A												108.0	97.0	101.0					7																	151962269		2203	4298	6501	SO:0001819	synonymous_variant	58508	exon8			GTCGCACACTGCA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1038G>A	7.37:g.151962269C>T			Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	123	0.07	9	NM_170606	1	0.00	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																					0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3			
TTC39B	158219	mdanderson.org	37	9	15175041	15175041	+	Missense_Mutation	SNP	G	G	T			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr9:15175041G>T	ENST00000512701.2	-	19	1970	c.1934C>A	c.(1933-1935)gCc>gAc	p.A645D	TTC39B_ENST00000507285.1_Missense_Mutation_p.A480D|TTC39B_ENST00000355694.2_Missense_Mutation_p.A579D|TTC39B_ENST00000507993.1_Missense_Mutation_p.A480D|TTC39B_ENST00000297615.5_Missense_Mutation_p.A576D|TTC39B_ENST00000380850.4_Missense_Mutation_p.A632D			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	645										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GAACTTTATGGCCTTGTCAAT	0.408																																					p.A645D													.	.			0			c.C1934A												134.0	129.0	131.0					9																	15175041		2203	4300	6503	SO:0001583	missense	158219	exon19			TTTATGGCCTTGT	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1934C>A	9.37:g.15175041G>T	ENSP00000422496:p.Ala645Asp		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_152574	4	0.00	0	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194303	0.78902	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	D;T;D;D;T;T	0.90955	-2.76;-0.92;-1.53;-1.53;-0.92;-0.92	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.96294	0.8791	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.96457	0.9338	10	0.72032	D	0.01	-10.3551	19.4919	0.95054	0.0:0.0:1.0:0.0	.	576;632;577;579;162	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	D	632;576;579;645;480;480	ENSP00000370231:A632D;ENSP00000297615:A576D;ENSP00000347920:A579D;ENSP00000422496:A645D;ENSP00000426539:A480D;ENSP00000423392:A480D	ENSP00000297615:A576D	A	-	2	0	TTC39B	15165041	1.000000	0.71417	0.997000	0.53966	0.707000	0.40811	7.483000	0.81158	2.691000	0.91804	0.655000	0.94253	GCC			0.408	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000051758.3		NM_152574	
GNAQ	2776	mdanderson.org	37	9	80537095	80537095	+	Nonsense_Mutation	SNP	G	G	T	rs200106152		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr9:80537095G>T	ENST00000286548.4	-	2	525	c.303C>A	c.(301-303)taC>taA	p.Y101*		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	101					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GCTCATACTTGTATGGGATCT	0.473			Mis		uveal melanoma																																p.Y101X				Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	.	.			0			c.C303A												202.0	163.0	176.0					9																	80537095		2203	4300	6503	SO:0001587	stop_gained	2776	exon2			ATACTTGTATGGG		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.303C>A	9.37:g.80537095G>T	ENSP00000286548:p.Tyr101*		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	49	0.12	6	NM_002072	12	0.00	0	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Nonsense_Mutation	SNP	ENST00000286548.4	37	CCDS6658.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	39	7.470181	0.98302	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	.	.	.	X	101;72	.	ENSP00000286548:Y101X	Y	-	3	2	GNAQ	79726915	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.743000	0.68655	2.696000	0.92011	0.650000	0.86243	TAC	0		0.473	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052761.1		NM_002072	
COL27A1	85301	mdanderson.org	37	9	117002729	117002729	+	Silent	SNP	C	C	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr9:117002729C>A	ENST00000356083.3	+	21	3188	c.2797C>A	c.(2797-2799)Cga>Aga	p.R933R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	933	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCTGGAGCCCGAGGCCTGCC	0.667																																					p.R933R													.	.			0			c.C2797A												82.0	91.0	88.0					9																	117002729		2203	4300	6503	SO:0001819	synonymous_variant	85301	exon21			GGAGCCCGAGGCC	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2797C>A	9.37:g.117002729C>A			Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	33	0.09	3	NM_032888	39	0.00	0	Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	CCDS6802.1																																																																																					0.667	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053763.1		NM_032888	
STXBP1	6812	mdanderson.org	37	9	130434352	130434352	+	Missense_Mutation	SNP	A	A	G			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr9:130434352A>G	ENST00000373299.1	+	12	1101	c.986A>G	c.(985-987)cAg>cGg	p.Q329R	STXBP1_ENST00000373302.3_Missense_Mutation_p.Q329R|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	329					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GACCTGTCCCAGATGCTGAAG	0.488																																					p.Q329R													.	.			0			c.A986G												122.0	113.0	116.0					9																	130434352		2203	4300	6503	SO:0001583	missense	6812	exon12			TGTCCCAGATGCT	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.986A>G	9.37:g.130434352A>G	ENSP00000362396:p.Gln329Arg		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	36	0.08	3	NM_001032221	9	0.00	0	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682233	0.68042	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.80214	-1.35;-1.35	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.84575	0.5502	M	0.90252	3.1	0.80722	D	1	B;B	0.21452	0.056;0.045	B;B	0.27608	0.081;0.049	D	0.83773	0.0221	10	0.56958	D	0.05	-14.6536	13.6827	0.62496	1.0:0.0:0.0:0.0	.	329;329	P61764;P61764-2	STXB1_HUMAN;.	R	283;329;161;329	ENSP00000362399:Q329R;ENSP00000362396:Q329R	ENSP00000362396:Q329R	Q	+	2	0	STXBP1	129474173	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.172000	0.68678	0.459000	0.35465	CAG			0.488	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054229.1		NM_003165	
PTGES	9536	broad.mit.edu	37	9	132501706	132501707	+	3'UTR	INS	-	-	ACACAT	rs1134680|rs137962222|rs35042232|rs3884098|rs367837009		TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chr9:132501706_132501707insACACAT	ENST00000340607.4	-	0	676_677				PTGES_ENST00000481476.1_De_novo_Start_OutOfFrame	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase						acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				Aacatacacacacacatacaca	0.525																																					.													.	PTGES	7		0			.																																									SO:0001624	3_prime_UTR_variant	9536	.			TACACACACACAT	AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase 1-like 1"", ""tumor protein p53 inducible protein 12"", ""p53-induced gene 12"", ""microsomal prostaglandin E synthase-1"", ""glutathione S-transferase 1-like 1"", ""MGST1-like 1"""	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.*184->ATGTGT	9.37:g.132501707_132501712dupACACAT			Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	5	0.60	3	.	11	0.00	0	O14900|Q5SZC0	Translation_Start_Site	INS	ENST00000340607.4	37	CCDS6927.1																																																																																					0.525	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054599.2		NM_004878	
MT-CYB	4519	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	M	14760	14760	+	Missense_Mutation	SNP	G	G	A			TCGA-XE-AAOJ-01A-12D-A435-10	TCGA-XE-AAOJ-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88e1b406-efd2-4cb8-b0e6-9c731cb5bb8d	2c753e80-371a-4046-a18c-d1f470e43b3d	g.chrM:14760G>A	ENST00000361789.2	+	1	14	c.14G>A	c.(13-15)cGc>cAc	p.R5H	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	5					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GACCCCAATACGCAAAATTAA	0.423																																					p.R5H													.	.			0			c.G14A																																									SO:0001583	missense	0	exon1			CAATACGCAAAAC			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.14G>A	M.37:g.14760G>A	ENSP00000354554:p.Arg5His		Somatic	111	0	0		WXS	Illumina HiSeq	.	44	0.89	39	ENST00000361789	0		0	Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37																																																																																						0.423	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				YP_003024038	
