#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_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AOX1	316	hgsc.bcm.edu	37	2	201474083	201474083	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:201474083G>A	ENST00000374700.2	+	12	1340	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	367	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCCAGATTCAGATCTGAATCC	0.373																																																	0													92.0	87.0	89.0					2																	201474083		2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1099G>A	2.37:g.201474083G>A	ENSP00000363832:p.Asp367Asn	Somatic		WXS	SOLID	Phase_I	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873904	0.72180	.	.	ENSG00000138356	ENST00000374700	T	0.44881	0.91	5.48	5.48	0.80851	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	H	0.98238	4.18	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.87163	0.2216	10	0.87932	D	0	-41.4331	19.363	0.94448	0.0:0.0:1.0:0.0	.	367	Q06278	ADO_HUMAN	N	367	ENSP00000363832:D367N	ENSP00000363832:D367N	D	+	1	0	AOX1	201182328	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	9.085000	0.94083	2.584000	0.87258	0.563000	0.77884	GAT		0.373	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1		NM_001159	
ASMTL	8623	hgsc.bcm.edu	37	X	1546876	1546876	+	Silent	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chrX:1546876A>G	ENST00000381317.3	-	7	680	c.648T>C	c.(646-648)cgT>cgC	p.R216R	ASMTL_ENST00000416733.2_Silent_p.R140R|ASMTL_ENST00000381333.4_Silent_p.R200R|ASMTL_ENST00000534940.1_Silent_p.R158R|ASMTL_ENST00000463763.1_5'UTR	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	216	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTCCTCCGGACGGGGCGGGT	0.647													a|||	3574	0.713658	0.503	0.7205	5008	,	,		15061	0.8562		0.7028	False		,,,				2504	0.8579																0								G	,,	2104,1822		553,998,412	42.0	48.0	46.0		474,600,648	-0.2	0.0	X	dbSNP_134	46	5719,2511		1970,1779,366	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	2523,2777,778	GG,GA,AA		30.5103,46.4086,35.6449	,,	158/564,200/606,216/622	1546876	7823,4333	1963	4115	6078	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.648T>C	X.37:g.1546876A>G		Somatic		WXS	SOLID	Phase_I	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	CCDS43917.1																																																																																				0.647	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1		NM_004192	
ARSD	414	hgsc.bcm.edu	37	X	2836007	2836007	+	Missense_Mutation	SNP	G	G	C	rs113556864		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chrX:2836007G>C	ENST00000381154.1	-	5	776	c.701C>G	c.(700-702)gCc>gGc	p.A234G	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	234					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCACGCCGGCCATGCCGGT	0.592																																																	0													23.0	26.0	25.0					X																	2836007		2203	4300	6503	SO:0001583	missense	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.701C>G	X.37:g.2836007G>C	ENSP00000370546:p.Ala234Gly	Somatic		WXS	SOLID	Phase_I	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	g	5.944	0.358234	0.11239	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93953	-3.32	2.91	1.73	0.24493	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.954305	0.08621	U	0.918475	D	0.93151	0.7819	M	0.87971	2.92	0.09310	N	1	B;B	0.17038	0.02;0.02	B;B	0.24006	0.044;0.05	D	0.84722	0.0740	10	0.34782	T	0.22	.	8.3904	0.32524	0.2179:0.0:0.7821:0.0	.	234;234	E9PAW5;P51689	.;ARSD_HUMAN	G	234	ENSP00000370546:A234G	ENSP00000217890:A234G	A	-	2	0	ARSD	2846007	0.005000	0.15991	0.004000	0.12327	0.014000	0.08584	1.484000	0.35508	1.119000	0.41883	0.273000	0.19326	GCC		0.592	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			
BEST3	144453	hgsc.bcm.edu;ucsc.edu	37	12	70048909	70048909	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr12:70048909G>T	ENST00000330891.5	-	10	2011	c.1785C>A	c.(1783-1785)ttC>ttA	p.F595L	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.F382L|BEST3_ENST00000553096.1_Missense_Mutation_p.F489L	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	595					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGGACCCCAGGAATCCCGGAA	0.498																																																	0													65.0	62.0	63.0					12																	70048909		1847	4101	5948	SO:0001583	missense	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1785C>A	12.37:g.70048909G>T	ENSP00000332413:p.Phe595Leu	Somatic		WXS	SOLID	Phase_I	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	7.590	0.670658	0.14776	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98178	-4.59;-4.76;-4.77	5.2	-2.5	0.06384	.	0.440966	0.23563	N	0.046837	D	0.91821	0.7412	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.003	D	0.84481	0.0605	10	0.11182	T	0.66	-6.8811	5.0912	0.14710	0.3831:0.271:0.3459:0.0	.	595;382	Q8N1M1;B5MDI8	BEST3_HUMAN;.	L	382;595;489	ENSP00000433213:F382L;ENSP00000332413:F595L;ENSP00000449548:F489L	ENSP00000332413:F595L	F	-	3	2	BEST3	68335176	0.916000	0.31088	0.001000	0.08648	0.017000	0.09413	0.324000	0.19610	-0.297000	0.08934	0.563000	0.77884	TTC		0.498	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2		NM_152439	
CCDC150	284992	hgsc.bcm.edu;ucsc.edu	37	2	197530388	197530388	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:197530388T>C	ENST00000389175.4	+	6	878	c.743T>C	c.(742-744)gTg>gCg	p.V248A	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	248										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGATCAACAGTGGAGGTAGAA	0.368																																																	0													64.0	61.0	62.0					2																	197530388		1880	4112	5992	SO:0001583	missense	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.743T>C	2.37:g.197530388T>C	ENSP00000373827:p.Val248Ala	Somatic		WXS	SOLID	Phase_I	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015543	0.54468	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.28666	1.6	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000006	T	0.39809	0.1092	M	0.64997	1.995	0.80722	D	1	P;P	0.48162	0.61;0.906	B;P	0.49085	0.3;0.6	T	0.28964	-1.0027	10	0.52906	T	0.07	.	12.1261	0.53917	0.0:0.0:0.0:1.0	.	248;248	Q8NCX0;F5H6M2	CC150_HUMAN;.	A	248	ENSP00000373827:V248A	ENSP00000373827:V248A	V	+	2	0	CCDC150	197238633	1.000000	0.71417	0.992000	0.48379	0.885000	0.51271	4.607000	0.61133	2.053000	0.61076	0.402000	0.26972	GTG		0.368	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2		NM_001080539	
CCR5	1234	hgsc.bcm.edu	37	3	46414947	46414947	+	Missense_Mutation	SNP	G	G	T	rs333|rs562091107|rs112590754	byFrequency	TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr3:46414947G>T	ENST00000292303.4	+	2	700	c.554G>T	c.(553-555)aGt>aTt	p.S185I	CCR5_ENST00000343801.4_Missense_Mutation_p.S185I|CCR5_ENST00000445772.1_Missense_Mutation_p.S185I|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	185			S -> N (in UGCCR5-145A).		calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TTTCCATACAGTCAGTATCAA	0.458																																																	0													138.0	139.0	139.0					3																	46414947		2203	4277	6480	SO:0001583	missense	1234				CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.554G>T	3.37:g.46414947G>T	ENSP00000292303:p.Ser185Ile	Somatic		WXS	SOLID	Phase_I	O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	G	4.030	0.003117	0.07866	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.37235	1.21;1.21;1.21	5.3	-8.87	0.00792	GPCR, rhodopsin-like superfamily (1);	2.220010	0.02562	U	0.096813	T	0.24160	0.0585	L	0.35249	1.045	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.20806	-1.0264	10	0.59425	D	0.04	.	6.8575	0.24048	0.6377:0.0845:0.1932:0.0845	.	185	P51681	CCR5_HUMAN	I	185;165;185;185	ENSP00000343985:S185I;ENSP00000292303:S185I;ENSP00000404881:S185I	ENSP00000292303:S185I	S	+	2	0	CCR5	46389951	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.537000	0.02206	-2.214000	0.00734	-0.258000	0.10820	AGT		0.458	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2		NM_000579	
CCR5	1234	hgsc.bcm.edu	37	3	46414949	46414949	+	Missense_Mutation	SNP	C	C	A	rs333|rs562091107|rs113869679	byFrequency	TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr3:46414949C>A	ENST00000292303.4	+	2	702	c.556C>A	c.(556-558)Cag>Aag	p.Q186K	CCR5_ENST00000343801.4_Missense_Mutation_p.Q186K|CCR5_ENST00000445772.1_Missense_Mutation_p.Q186K|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	186					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TCCATACAGTCAGTATCAATT	0.453																																																	0													136.0	138.0	137.0					3																	46414949		2203	4271	6474	SO:0001583	missense	1234				CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.556C>A	3.37:g.46414949C>A	ENSP00000292303:p.Gln186Lys	Somatic		WXS	SOLID	Phase_I	O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	C	9.584	1.124440	0.20959	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.36699	1.24;1.24;1.24	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39341	U	0.001383	T	0.32971	0.0847	L	0.45285	1.41	0.27965	N	0.936637	B	0.16166	0.016	B	0.22152	0.038	T	0.23332	-1.0191	10	0.51188	T	0.08	.	13.0639	0.59022	0.1602:0.8398:0.0:0.0	.	186	P51681	CCR5_HUMAN	K	186;166;186;186	ENSP00000343985:Q186K;ENSP00000292303:Q186K;ENSP00000404881:Q186K	ENSP00000292303:Q186K	Q	+	1	0	CCR5	46389953	0.000000	0.05858	0.065000	0.19835	0.019000	0.09904	0.810000	0.27183	2.470000	0.83445	0.561000	0.74099	CAG		0.453	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2		NM_000579	
CHD7	55636	hgsc.bcm.edu	37	8	61763833	61763833	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr8:61763833T>C	ENST00000423902.2	+	28	6099	c.5620T>C	c.(5620-5622)Tct>Cct	p.S1874P	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1874					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATTTGCAAATTCTCCTTCAGA	0.383																																																	0													59.0	56.0	57.0					8																	61763833		1901	4097	5998	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5620T>C	8.37:g.61763833T>C	ENSP00000392028:p.Ser1874Pro	Somatic		WXS	SOLID	Phase_I	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661308	0.67700	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.90004	-2.6	5.58	5.58	0.84498	.	0.139743	0.49916	D	0.000124	D	0.90590	0.7050	M	0.66939	2.045	0.80722	D	1	D	0.53312	0.959	P	0.49887	0.625	D	0.90415	0.4412	10	0.42905	T	0.14	-16.1324	16.0298	0.80570	0.0:0.0:0.0:1.0	.	1874	Q9P2D1	CHD7_HUMAN	P	1874	ENSP00000392028:S1874P	ENSP00000307304:S1874P	S	+	1	0	CHD7	61926387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.869000	0.75521	2.247000	0.74100	0.528000	0.53228	TCT		0.383	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762	
CHST10	9486	hgsc.bcm.edu;ucsc.edu	37	2	101009958	101009958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:101009958C>A	ENST00000264249.3	-	7	1205	c.820G>T	c.(820-822)Gag>Tag	p.E274*	CHST10_ENST00000409701.1_Nonsense_Mutation_p.E274*|CHST10_ENST00000542617.1_Nonsense_Mutation_p.E322*	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	274					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TACATTATCTCACAGGGAGCA	0.537																																																	0													226.0	189.0	202.0					2																	101009958		2203	4300	6503	SO:0001587	stop_gained	9486			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.820G>T	2.37:g.101009958C>A	ENSP00000264249:p.Glu274*	Somatic		WXS	SOLID	Phase_I	Q53T18	Nonsense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	38	6.981780	0.97979	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	.	.	.	5.91	5.91	0.95273	.	0.087797	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-41.1322	20.2963	0.98556	0.0:1.0:0.0:0.0	.	.	.	.	X	274;322;274	.	ENSP00000264249:E274X	E	-	1	0	CHST10	100376390	1.000000	0.71417	0.997000	0.53966	0.790000	0.44656	2.553000	0.45837	2.813000	0.96785	0.655000	0.94253	GAG		0.537	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1		NM_004854	
CNTN1	1272	hgsc.bcm.edu	37	12	41327530	41327530	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr12:41327530C>A	ENST00000551295.2	+	9	952	c.835C>A	c.(835-837)Cta>Ata	p.L279I	CNTN1_ENST00000348761.2_Missense_Mutation_p.L268I|CNTN1_ENST00000360099.3_Missense_Mutation_p.L279I|CNTN1_ENST00000547849.1_Missense_Mutation_p.L279I|CNTN1_ENST00000547702.1_Missense_Mutation_p.L279I|CNTN1_ENST00000347616.1_Missense_Mutation_p.L279I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	279	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCGGAAGGTTCTAGAACCAAT	0.398																																																	0													95.0	96.0	96.0					12																	41327530		2202	4299	6501	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.835C>A	12.37:g.41327530C>A	ENSP00000447006:p.Leu279Ile	Somatic		WXS	SOLID	Phase_I	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491514	0.44249	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.48	4.57	0.56435	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.460512	0.22646	N	0.057387	T	0.55065	0.1897	N	0.20483	0.58	0.27352	N	0.956227	B;B;B	0.31274	0.317;0.174;0.209	B;B;B	0.35470	0.203;0.083;0.135	T	0.57219	-0.7849	10	0.87932	D	0	.	13.5298	0.61615	0.2835:0.7165:0.0:0.0	.	279;268;279	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	I	279;279;279;279;279;268	ENSP00000448004:L279I;ENSP00000447006:L279I;ENSP00000448653:L279I;ENSP00000325660:L279I;ENSP00000353213:L279I;ENSP00000261160:L268I	ENSP00000325660:L279I	L	+	1	2	CNTN1	39613797	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	2.720000	0.47252	1.412000	0.46977	0.650000	0.86243	CTA		0.398	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2		NM_001843	
COL6A5	256076	hgsc.bcm.edu	37	3	130095639	130095639	+	Silent	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr3:130095639A>G	ENST00000432398.2	+	3	1121	c.627A>G	c.(625-627)gtA>gtG	p.V209V	COL6A5_ENST00000265379.6_Silent_p.V209V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	209	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCAAGGATGTAACCAAGTATA	0.483																																																	0													91.0	75.0	80.0					3																	130095639		692	1591	2283	SO:0001819	synonymous_variant	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.627A>G	3.37:g.130095639A>G		Somatic		WXS	SOLID	Phase_I	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37																																																																																					0.483	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_153264	
CXorf51A	100129239	hgsc.bcm.edu	37	X	145896115	145896115	+	lincRNA	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chrX:145896115C>T	ENST00000458472.1	-	0	129									chromosome X open reading frame 51A																		CTCACCTTAACGCCGCTTCTG	0.542																																																	0																																												0			AA723770		Xq27.3	2013-01-16	2011-09-08	2011-09-08	ENSG00000224440	ENSG00000224440			30533	other	unknown			"""chromosome X open reading frame 51"""	CXorf51			Standard	NM_001144064		Approved		uc011mwv.2		OTTHUMG00000022600		X.37:g.145896115C>T		Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000458472.1	37																																																																																					0.542	CXorf51A-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000058639.1		NM_001144064	
CYTH4	27128	hgsc.bcm.edu	37	22	37708130	37708130	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr22:37708130G>C	ENST00000248901.6	+	12	1214	c.1027G>C	c.(1027-1029)Ggc>Cgc	p.G343R		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	343	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CGATGGCGACGGCAGGGTGGT	0.622																																																	0													128.0	112.0	118.0					22																	37708130		2203	4300	6503	SO:0001583	missense	27128			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.1027G>C	22.37:g.37708130G>C	ENSP00000248901:p.Gly343Arg	Somatic		WXS	SOLID	Phase_I	Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	CCDS13946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.089952|4.089952	0.76756|0.76756	.|.	.|.	ENSG00000100055|ENSG00000100055	ENST00000248901|ENST00000446506	T|.	0.17054|.	2.3|.	4.71|4.71	4.71|4.71	0.59529|0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83220|0.83220	0.5207|0.5207	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.86641|0.86641	0.1892|0.1892	10|5	0.87932|.	D|.	0|.	.|.	16.8051|16.8051	0.85625|0.85625	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	343|.	Q9UIA0|.	CYH4_HUMAN|.	R|P	343|95	ENSP00000248901:G343R|.	ENSP00000248901:G343R|.	G|R	+|+	1|2	0|0	CYTH4|CYTH4	36038076|36038076	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.456000|0.456000	0.32438|0.32438	7.943000|7.943000	0.87716|0.87716	2.339000|2.339000	0.79563|0.79563	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.622	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			
DCC	1630	hgsc.bcm.edu;ucsc.edu	37	18	50923805	50923805	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr18:50923805C>T	ENST00000442544.2	+	18	3432	c.2816C>T	c.(2815-2817)aCg>aTg	p.T939M	DCC_ENST00000412726.1_Missense_Mutation_p.T767M|DCC_ENST00000581580.1_Missense_Mutation_p.T574M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	939	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CATGCCACCACGTATGAAGCA	0.443																																																	0													105.0	90.0	95.0					18																	50923805		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2816C>T	18.37:g.50923805C>T	ENSP00000389140:p.Thr939Met	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776257	0.49786	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.64991	-0.13;-0.13	5.8	5.8	0.92144	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83665	0.0163	10	0.87932	D	0	.	18.8301	0.92135	0.0:1.0:0.0:0.0	.	767;767;939	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	M	939;767	ENSP00000389140:T939M;ENSP00000397322:T767M	ENSP00000397322:T767M	T	+	2	0	DCC	49177803	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	7.722000	0.84778	2.741000	0.93983	0.650000	0.86243	ACG		0.443	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215	
FABP1	2168	hgsc.bcm.edu	37	2	88427489	88427489	+	Silent	SNP	T	T	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:88427489T>C	ENST00000295834.3	-	1	146	c.48A>G	c.(46-48)gaA>gaG	p.E16E	FABP1_ENST00000393750.3_Silent_p.E16E|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	16					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TCATGAAGGCTTCAAAGTTTT	0.537																																																	0													194.0	167.0	176.0					2																	88427489		2203	4300	6503	SO:0001819	synonymous_variant	2168			M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.48A>G	2.37:g.88427489T>C		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000295834.3	37	CCDS2001.1																																																																																				0.537	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1		NM_001443	
FCRL5	83416	hgsc.bcm.edu;ucsc.edu	37	1	157490914	157490914	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr1:157490914G>A	ENST00000361835.3	-	11	2565	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.A803V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	803	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.A803E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTTTAAGGACGCTCCTCCAGA	0.557																																																	1	Substitution - Missense(1)	lung(1)											78.0	84.0	82.0					1																	157490914		2203	4300	6503	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2408C>T	1.37:g.157490914G>A	ENSP00000354691:p.Ala803Val	Somatic		WXS	SOLID	Phase_I	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	9.537	1.112376	0.20795	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.03745	3.82;3.82	5.34	-0.217	0.13149	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	89.059200	0.00531	U	0.000200	T	0.01320	0.0043	L	0.35542	1.07	0.36542	D	0.871369	B;P	0.50156	0.303;0.932	B;B	0.39027	0.007;0.288	T	0.50972	-0.8764	10	0.37606	T	0.19	.	7.8573	0.29489	0.5523:0.0:0.4477:0.0	.	803;803	A6NJE8;Q96RD9	.;FCRL5_HUMAN	V	803	ENSP00000354691:A803V;ENSP00000349434:A803V	ENSP00000349434:A803V	A	-	2	0	FCRL5	155757538	0.000000	0.05858	0.009000	0.14445	0.240000	0.25518	-0.419000	0.07071	-0.178000	0.10672	0.650000	0.86243	GCG		0.557	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1		NM_031281	
FER1L6	654463	hgsc.bcm.edu;ucsc.edu	37	8	124987507	124987507	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr8:124987507C>A	ENST00000522917.1	+	8	850	c.644C>A	c.(643-645)aCc>aAc	p.T215N	FER1L6_ENST00000399018.1_Missense_Mutation_p.T215N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	215						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTCTTGAAGACCAGCCCTAAA	0.473																																																	0													126.0	122.0	123.0					8																	124987507		1963	4149	6112	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.644C>A	8.37:g.124987507C>A	ENSP00000428280:p.Thr215Asn	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	8.402	0.842191	0.16963	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.71341	-0.56;-0.56	5.46	3.62	0.41486	C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.562931	0.17258	U	0.180883	T	0.70307	0.3209	L	0.57536	1.79	0.09310	N	1	B	0.22851	0.076	B	0.30179	0.112	T	0.62955	-0.6744	10	0.51188	T	0.08	.	16.2053	0.82122	0.0:0.7486:0.2514:0.0	.	215	Q2WGJ9	FR1L6_HUMAN	N	215	ENSP00000428280:T215N;ENSP00000381982:T215N	ENSP00000381982:T215N	T	+	2	0	FER1L6	125056688	0.470000	0.25854	0.995000	0.50966	0.030000	0.12068	2.954000	0.49113	0.776000	0.33473	0.555000	0.69702	ACC		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112	
GABRB3	2562	hgsc.bcm.edu;ucsc.edu	37	15	26812770	26812770	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr15:26812770A>C	ENST00000311550.5	-	7	904	c.793T>G	c.(793-795)Ttc>Gtc	p.F265V	GABRB3_ENST00000400188.3_Missense_Mutation_p.F194V|GABRB3_ENST00000541819.2_Missense_Mutation_p.F321V|GABRB3_ENST00000545868.1_Missense_Mutation_p.F180V|GABRB3_ENST00000299267.4_Missense_Mutation_p.F265V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	265					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGATCCAGAAGGACACCCAC	0.388																																																	0													133.0	113.0	120.0					15																	26812770		2203	4300	6503	SO:0001583	missense	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.793T>G	15.37:g.26812770A>C	ENSP00000308725:p.Phe265Val	Somatic		WXS	SOLID	Phase_I	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.938037	0.92526	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.98015	0.9346	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98877	1.0768	10	0.87932	D	0	.	15.7938	0.78394	1.0:0.0:0.0:0.0	.	321;265;265	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	265;321;265;194;180	ENSP00000308725:F265V;ENSP00000442408:F321V;ENSP00000299267:F265V;ENSP00000383049:F194V;ENSP00000439169:F180V	ENSP00000299267:F265V	F	-	1	0	GABRB3	24363863	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.204000	0.95041	2.322000	0.78497	0.528000	0.53228	TTC		0.388	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			
GAK	2580	hgsc.bcm.edu	37	4	860311	860311	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr4:860311C>G	ENST00000314167.4	-	22	2994	c.2884G>C	c.(2884-2886)Ggc>Cgc	p.G962R	GAK_ENST00000511163.1_Missense_Mutation_p.G883R|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	962			G -> D (in a lung neuroendocrine carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGAAGCGGGCCAAAGGGGTCA	0.617																																																	0													70.0	71.0	71.0					4																	860311		2203	4300	6503	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2884G>C	4.37:g.860311C>G	ENSP00000314499:p.Gly962Arg	Somatic		WXS	SOLID	Phase_I	Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.047176|3.047176	0.55110|0.55110	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000511980	T;T|.	0.78924|.	-0.8;-1.22|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.161388|.	0.53938|.	D|.	0.000054|.	T|T	0.55657|0.55657	0.1934|0.1934	L|L	0.29908|0.29908	0.895|0.895	0.35685|0.35685	D|D	0.814364|0.814364	D;D;P|.	0.56035|.	0.974;0.974;0.918|.	B;P;B|.	0.48425|.	0.372;0.577;0.372|.	T|T	0.61352|0.61352	-0.7080|-0.7080	10|5	0.72032|.	D|.	0.01|.	-25.1032|-25.1032	16.0863|16.0863	0.81056|0.81056	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	864;883;962|.	B4DS37;E9PGR2;O14976|.	.;.;GAK_HUMAN|.	R|F	238;962;883|73	ENSP00000314499:G962R;ENSP00000421361:G883R|.	ENSP00000314499:G962R|.	G|L	-|-	1|3	0|2	GAK|GAK	850311|850311	1.000000|1.000000	0.71417|0.71417	0.541000|0.541000	0.28102|0.28102	0.032000|0.032000	0.12392|0.12392	5.747000|5.747000	0.68689|0.68689	2.388000|2.388000	0.81334|0.81334	0.561000|0.561000	0.74099|0.74099	GGC|TTG		0.617	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1		NM_005255	
GATM	2628	hgsc.bcm.edu;ucsc.edu	37	15	45654362	45654362	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr15:45654362T>C	ENST00000396659.3	-	9	1556	c.1217A>G	c.(1216-1218)cAt>cGt	p.H406R		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	406					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GGTCCAGCAATGGAAGCCTCC	0.498																																																	0													93.0	79.0	84.0					15																	45654362		2198	4298	6496	SO:0001583	missense	2628			S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.1217A>G	15.37:g.45654362T>C	ENSP00000379895:p.His406Arg	Somatic		WXS	SOLID	Phase_I	B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335036	0.81801	.	.	ENSG00000171766	ENST00000396659	T	0.43294	0.95	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74163	-0.3754	10	0.21540	T	0.41	-17.9422	13.7746	0.63046	0.0:0.0:0.0:1.0	.	406	P50440	GATM_HUMAN	R	406	ENSP00000379895:H406R	ENSP00000379895:H406R	H	-	2	0	GATM	43441654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.198000	0.70561	0.533000	0.62120	CAT		0.498	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2		NM_001482	
GCGR	2642	hgsc.bcm.edu;ucsc.edu	37	17	79770111	79770111	+	Missense_Mutation	SNP	G	G	A	rs377519283		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr17:79770111G>A	ENST00000400723.3	+	10	1224	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	GCGR_ENST00000570996.1_Missense_Mutation_p.V341I	NM_000160.3	NP_000151.1	P47871	GLR_HUMAN	glucagon receptor	311					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|exocytosis (GO:0006887)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|hormone-mediated signaling pathway (GO:0009755)|positive regulation of GTPase activity (GO:0043547)|regulation of blood pressure (GO:0008217)|regulation of glycogen metabolic process (GO:0070873)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|guanyl-nucleotide exchange factor activity (GO:0005085)|peptide hormone binding (GO:0017046)			endometrium(2)	2					Glucagon recombinant(DB00040)	GCGGTTCCCCGTCTTCCTGGC	0.652																																																	0								G	ILE/VAL	1,1383		0,1,691	56.0	62.0	60.0		931	5.0	0.9	17		60	0,3182		0,0,1591	no	missense	GCGR	NM_000160.3	29	0,1,2282	AA,AG,GG		0.0,0.0723,0.0219	benign	311/478	79770111	1,4565	692	1591	2283	SO:0001583	missense	2642			U03469, L20316	CCDS54177.1	17q25	2012-08-10			ENSG00000215644	ENSG00000215644		"""GPCR / Class B : Glucagon receptors"""	4192	protein-coding gene	gene with protein product		138033				8020989	Standard	XM_006722276		Approved	GGR	uc010wuw.2	P47871		ENST00000400723.3:c.931G>A	17.37:g.79770111G>A	ENSP00000383558:p.Val311Ile	Somatic		WXS	SOLID	Phase_I	Q2M3M5	Missense_Mutation	SNP	ENST00000400723.3	37	CCDS54177.1	.	.	.	.	.	.	.	.	.	.	g	7.003	0.555173	0.13436	7.23E-4	0.0	ENSG00000215644	ENST00000400723	T	0.36878	1.23	4.98	4.98	0.66077	GPCR, family 2-like (1);	.	.	.	.	T	0.15565	0.0375	N	0.02296	-0.605	0.44719	D	0.997716	B	0.32040	0.353	B	0.31495	0.131	T	0.16217	-1.0410	9	0.02654	T	1	.	18.1939	0.89814	0.0:0.0:1.0:0.0	.	311	P47871	GLR_HUMAN	I	311	ENSP00000383558:V311I	ENSP00000383558:V311I	V	+	1	0	GCGR	.	1.000000	0.71417	0.947000	0.38551	0.985000	0.73830	3.988000	0.56951	2.447000	0.82792	0.561000	0.74099	GTC		0.652	GCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439676.1		NM_000160	
HAPLN1	1404	hgsc.bcm.edu	37	5	82937598	82937598	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr5:82937598A>T	ENST00000274341.4	-	5	1632	c.782T>A	c.(781-783)tTt>tAt	p.F261Y		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	261	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CAGATAGTAAAAACGGCCTGT	0.453																																																	0													111.0	113.0	112.0					5																	82937598		2203	4300	6503	SO:0001583	missense	1404				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.782T>A	5.37:g.82937598A>T	ENSP00000274341:p.Phe261Tyr	Somatic		WXS	SOLID	Phase_I	B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702057	0.48307	.	.	ENSG00000145681	ENST00000274341	T	0.08282	3.11	5.1	5.1	0.69264	Link (3);	0.094270	0.85682	D	0.000000	T	0.10594	0.0259	L	0.44542	1.39	0.80722	D	1	B	0.13594	0.008	B	0.19666	0.026	T	0.04467	-1.0949	10	0.72032	D	0.01	.	15.2043	0.73165	1.0:0.0:0.0:0.0	.	261	P10915	HPLN1_HUMAN	Y	261	ENSP00000274341:F261Y	ENSP00000274341:F261Y	F	-	2	0	HAPLN1	82973354	1.000000	0.71417	0.560000	0.28344	0.896000	0.52359	9.283000	0.95860	2.041000	0.60428	0.533000	0.62120	TTT		0.453	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2		NM_001884	
IQCB1	9657	hgsc.bcm.edu	37	3	121544945	121544945	+	Silent	SNP	G	G	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr3:121544945G>A	ENST00000310864.6	-	5	560	c.346C>T	c.(346-348)Cta>Tta	p.L116L	IQCB1_ENST00000349820.6_Silent_p.L116L	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	116					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CCCAAAACTAGAAAATTTTCT	0.363																																																	0													67.0	65.0	66.0					3																	121544945		2203	4300	6503	SO:0001819	synonymous_variant	9657			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.346C>T	3.37:g.121544945G>A		Somatic		WXS	SOLID	Phase_I	Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Silent	SNP	ENST00000310864.6	37	CCDS33837.1																																																																																				0.363	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1		NM_014642	
KCNMA1	3778	hgsc.bcm.edu;ucsc.edu	37	10	78669819	78669819	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr10:78669819C>T	ENST00000286628.8	-	25	3051	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N	KCNMA1_ENST00000404771.3_Missense_Mutation_p.D1018N|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D987N|KCNMA1_ENST00000286627.5_Missense_Mutation_p.D960N|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D1021N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D1001N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D960N|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D1022N	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1018					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCATCATCATCGTCTTGGTCC	0.478																																																	0													165.0	126.0	139.0					10																	78669819		2203	4300	6503	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3052G>A	10.37:g.78669819C>T	ENSP00000286628:p.Asp1018Asn	Somatic		WXS	SOLID	Phase_I	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.455310|5.455310	0.96223|0.96223	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	T;T;T;T;T;T;T;T;T|.	0.60672|.	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Potassium channel, calcium-activated, BK, alpha subunit (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77280|0.77280	0.4107|0.4107	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.999|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.998;0.936;0.981;1.0;0.981;0.914;0.971;0.957|.	T|T	0.74328|0.74328	-0.3701|-0.3701	10|5	0.72032|.	D|.	0.01|.	-14.3036|-14.3036	20.428|20.428	0.99075|0.99075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	989;990;1001;1018;960;771;1021;987|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	N|Q	960;897;953;992;955;987;960;992;1022;1021;1001;771|948;667	ENSP00000361517:D960N;ENSP00000361485:D897N;ENSP00000361514:D953N;ENSP00000396608:D992N;ENSP00000361520:D987N;ENSP00000286627:D960N;ENSP00000385552:D1022N;ENSP00000346321:D1021N;ENSP00000385806:D1001N|.	ENSP00000286627:D960N|.	D|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78339825|78339825	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.907000|0.907000	0.53573|0.53573	7.818000|7.818000	0.86416|0.86416	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.478	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3		NM_002247	
CEP170B	283638	hgsc.bcm.edu;ucsc.edu	37	14	105356097	105356097	+	Splice_Site	SNP	T	T	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr14:105356097T>G	ENST00000414716.3	+	13	4106		c.e13+2		CEP170B_ENST00000453495.1_Splice_Site|CEP170B_ENST00000556508.1_Splice_Site|CEP170B_ENST00000418279.1_Splice_Site	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B							cytoplasm (GO:0005737)|microtubule (GO:0005874)											GATTGCCAGGTGAGTAGCCCA	0.607																																																	0													66.0	69.0	68.0					14																	105356097		2039	4166	6205	SO:0001630	splice_region_variant	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3878+2T>G	14.37:g.105356097T>G		Somatic		WXS	SOLID	Phase_I	Q2KHR7|Q86TI7	Splice_Site	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926602	0.34002	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.717	0.62702	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0284	104427142	1.000000	0.71417	0.994000	0.49952	0.130000	0.20726	7.525000	0.81892	1.637000	0.50538	0.391000	0.25812	.		0.607	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2		NM_001112726	Intron
KRTAP10-8	386681	hgsc.bcm.edu	37	21	46032305	46032305	+	Silent	SNP	T	T	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr21:46032305T>C	ENST00000334662.2	+	1	310	c.288T>C	c.(286-288)ccT>ccC	p.P96P	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	96	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CCTGCACACCTTCATGCTGCC	0.657																																																	0													88.0	83.0	85.0					21																	46032305		2203	4300	6503	SO:0001819	synonymous_variant	386681			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.288T>C	21.37:g.46032305T>C		Somatic		WXS	SOLID	Phase_I	A0JNW4	Silent	SNP	ENST00000334662.2	37	CCDS13713.1																																																																																				0.657	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1		NM_198695	
LIAS	11019	hgsc.bcm.edu;ucsc.edu	37	4	39469138	39469138	+	Splice_Site	SNP	G	G	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr4:39469138G>T	ENST00000513731.1	+	3	271	c.219G>T	c.(217-219)agG>agT	p.R73S	LIAS_ENST00000381846.1_Intron|LIAS_ENST00000340169.2_Splice_Site_p.R203S|LIAS_ENST00000261434.3_Splice_Site_p.R203S					lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						TTCCCCTTAGGAATCCAAAAA	0.368																																																	0													107.0	107.0	107.0					4																	39469138		2203	4300	6503	SO:0001630	splice_region_variant	11019			AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000513731.1:c.219-1G>T	4.37:g.39469138G>T		Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000513731.1	37		.	.	.	.	.	.	.	.	.	.	G	17.49	3.402172	0.62288	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731	T;T;T	0.80304	-1.08;-1.08;-1.36	5.89	3.23	0.37069	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.039466	0.85682	D	0.000000	T	0.82051	0.4953	M	0.75884	2.315	0.80722	D	1	P;B	0.51147	0.942;0.292	P;B	0.49887	0.625;0.41	T	0.80605	-0.1308	9	.	.	.	.	8.9783	0.35950	0.2833:0.0:0.7167:0.0	.	73;203	D6RCP8;O43766	.;LIAS_HUMAN	S	203;203;73	ENSP00000340676:R203S;ENSP00000261434:R203S;ENSP00000425580:R73S	.	R	+	3	2	LIAS	39145533	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	1.944000	0.40263	0.837000	0.34925	0.557000	0.71058	AGG		0.368	LIAS-006	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000361037.1		NM_194451	Missense_Mutation
LPA	4018	hgsc.bcm.edu	37	6	161027525	161027525	+	Silent	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr6:161027525C>T	ENST00000316300.5	-	17	2813	c.2769G>A	c.(2767-2769)gaG>gaA	p.E923E	LPA_ENST00000447678.1_Silent_p.E923E			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3431	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAGAAGGAGCCTCTAGGCTTG	0.542																																																	0													85.0	87.0	86.0					6																	161027525		1948	4193	6141	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2769G>A	6.37:g.161027525C>T		Somatic		WXS	SOLID	Phase_I	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.542	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1		NM_005577	
LPHN3	23284	hgsc.bcm.edu;ucsc.edu	37	4	62801740	62801740	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr4:62801740C>A	ENST00000514591.1	+	14	2521	c.2192C>A	c.(2191-2193)aCc>aAc	p.T731N	LPHN3_ENST00000511324.1_Missense_Mutation_p.T799N|LPHN3_ENST00000506746.1_Missense_Mutation_p.T799N|LPHN3_ENST00000507625.1_Missense_Mutation_p.T799N|LPHN3_ENST00000514157.1_Missense_Mutation_p.T731N|LPHN3_ENST00000506700.1_Missense_Mutation_p.T731N|LPHN3_ENST00000508946.1_Missense_Mutation_p.T731N|LPHN3_ENST00000512091.2_Missense_Mutation_p.T731N|LPHN3_ENST00000508693.1_Missense_Mutation_p.T799N|LPHN3_ENST00000514996.1_Missense_Mutation_p.T731N|LPHN3_ENST00000509896.1_Missense_Mutation_p.T799N|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000506720.1_Missense_Mutation_p.T799N|LPHN3_ENST00000504896.1_Missense_Mutation_p.T731N|LPHN3_ENST00000507164.1_Missense_Mutation_p.T799N|LPHN3_ENST00000545650.1_Missense_Mutation_p.T731N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	718					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCTGCAAATACCTTAAAGCAA	0.393																																																	0													42.0	41.0	42.0					4																	62801740		1865	4096	5961	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2192C>A	4.37:g.62801740C>A	ENSP00000422533:p.Thr731Asn	Somatic		WXS	SOLID	Phase_I	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.474376|4.474376	0.84640|0.84640	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.11385|.	2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Domain of unknown function DUF3497 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73118|.	0.3546|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D|.	0.64830|.	0.994;0.994;0.988|.	D;D;P|.	0.66716|.	0.946;0.946;0.844|.	T|.	0.72200|.	-0.4362|.	10|.	0.87932|.	D|.	0|.	.|.	18.2931|18.2931	0.90137|0.90137	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	731;718;731|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	N|X	731;731;799;799;731;731;718;731;799;799;799;731;731;731;799;799;731|188	ENSP00000423388:T731N;ENSP00000422533:T731N;ENSP00000423787:T799N;ENSP00000425033:T799N;ENSP00000424120:T731N;ENSP00000439831:T731N;ENSP00000421476:T799N;ENSP00000424030:T799N;ENSP00000421372:T799N;ENSP00000425201:T731N;ENSP00000423434:T731N;ENSP00000421627:T731N;ENSP00000420931:T799N;ENSP00000425884:T799N;ENSP00000424258:T731N|.	ENSP00000280009:T731N|.	T|Y	+|+	2|3	0|2	LPHN3|LPHN3	62484335|62484335	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.971000|0.971000	0.66376|0.66376	7.263000|7.263000	0.78421|0.78421	2.326000|2.326000	0.78906|0.78906	0.585000|0.585000	0.79938|0.79938	ACC|TAC		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			
LYST	1130	hgsc.bcm.edu	37	1	235971988	235971988	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr1:235971988C>A	ENST00000389794.3	-	5	2304	c.2130G>T	c.(2128-2130)caG>caT	p.Q710H	LYST_ENST00000536965.1_Missense_Mutation_p.Q710H|LYST_ENST00000389793.2_Missense_Mutation_p.Q710H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	710					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GATTTGCAATCTGTATACTAT	0.348																																																	0													48.0	52.0	51.0					1																	235971988		2202	4298	6500	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2130G>T	1.37:g.235971988C>A	ENSP00000374444:p.Gln710His	Somatic		WXS	SOLID	Phase_I	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485502	0.26686	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68025	-0.3;-0.3;1.01	5.71	-0.441	0.12257	.	0.053153	0.85682	D	0.000000	T	0.48607	0.1509	L	0.38531	1.155	0.42790	D	0.993898	B;B	0.25390	0.047;0.125	B;B	0.22152	0.027;0.038	T	0.28522	-1.0041	10	0.54805	T	0.06	.	5.2603	0.15569	0.2352:0.486:0.0:0.2789	.	710;710	Q99698-3;Q99698	.;LYST_HUMAN	H	710	ENSP00000374444:Q710H;ENSP00000374443:Q710H;ENSP00000438315:Q710H	ENSP00000374443:Q710H	Q	-	3	2	LYST	234038611	1.000000	0.71417	0.909000	0.35828	0.965000	0.64279	2.025000	0.41059	0.033000	0.15463	-0.150000	0.13652	CAG		0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			
MAP9	79884	hgsc.bcm.edu	37	4	156276291	156276291	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr4:156276291C>A	ENST00000311277.4	-	10	1575	c.1312G>T	c.(1312-1314)Gtg>Ttg	p.V438L	AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000593387.2_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.V414L|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000596754.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	438					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGTAAATACACATTTTTCTTT	0.244																																																	0													55.0	59.0	58.0					4																	156276291		2184	4261	6445	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1312G>T	4.37:g.156276291C>A	ENSP00000310593:p.Val438Leu	Somatic		WXS	SOLID	Phase_I	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	9.288	1.049849	0.19827	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024	T;T;T	0.30448	2.25;3.13;1.53	4.98	0.00389	0.14056	.	1.035180	0.07672	N	0.935637	T	0.16981	0.0408	N	0.22421	0.69	0.24573	N	0.993917	B;P;P	0.40909	0.004;0.732;0.732	B;B;B	0.37888	0.01;0.26;0.26	T	0.17531	-1.0366	10	0.29301	T	0.29	-3.2388	3.393	0.07295	0.1776:0.4275:0.0:0.3949	.	413;438;438	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	L	438;414;437	ENSP00000310593:V438L;ENSP00000427402:V414L;ENSP00000394048:V437L	ENSP00000310593:V438L	V	-	1	0	MAP9	156495741	0.000000	0.05858	0.621000	0.29145	0.648000	0.38561	-0.739000	0.04866	0.238000	0.21222	-0.225000	0.12378	GTG		0.244	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3		NM_001039580	
MOCOS	55034	hgsc.bcm.edu	37	18	33793366	33793366	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr18:33793366G>A	ENST00000261326.5	+	7	1277	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.R419Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATCCACCTGCGAACTGGCTGC	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											70.0	62.0	65.0					18																	33793366		2203	4300	6503	SO:0001583	missense	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1256G>A	18.37:g.33793366G>A	ENSP00000261326:p.Arg419Gln	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657160	0.88154	.	.	ENSG00000075643	ENST00000261326	D	0.88896	-2.44	5.56	5.56	0.83823	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.96256	0.8779	H	0.96365	3.81	0.51767	D	0.999939	D	0.89917	1.0	D	0.85130	0.997	D	0.97216	0.9874	10	0.87932	D	0	-14.882	15.0208	0.71630	0.0:0.0:1.0:0.0	.	419	Q96EN8	MOCOS_HUMAN	Q	419	ENSP00000261326:R419Q	ENSP00000261326:R419Q	R	+	2	0	MOCOS	32047364	1.000000	0.71417	0.987000	0.45799	0.464000	0.32679	9.452000	0.97615	2.619000	0.88677	0.555000	0.69702	CGA		0.498	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			
MTHFD1L	25902	hgsc.bcm.edu;ucsc.edu	37	6	151358209	151358209	+	Missense_Mutation	SNP	C	C	T	rs552580428		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr6:151358209C>T	ENST00000367321.3	+	26	3077	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	935	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CAGTGACGTCCGGGCCAGCAT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18701	0.0		0.001	False		,,,				2504	0.0																0													87.0	83.0	84.0					6																	151358209		2203	4300	6503	SO:0001583	missense	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2803C>T	6.37:g.151358209C>T	ENSP00000356290:p.Arg935Trp	Somatic		WXS	SOLID	Phase_I	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228637	0.39399	.	.	ENSG00000120254	ENST00000367321;ENST00000453602;ENST00000450635	T;T;T	0.25579	1.79;1.79;1.79	5.27	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.981;0.996	T	0.68599	-0.5366	10	0.87932	D	0	.	9.6599	0.39950	0.2024:0.7259:0.0:0.0717	.	936;690;935	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	W	935;60;34	ENSP00000356290:R935W;ENSP00000391022:R60W;ENSP00000399804:R34W	ENSP00000356290:R935W	R	+	1	2	MTHFD1L	151399902	1.000000	0.71417	0.990000	0.47175	0.309000	0.27889	2.002000	0.40835	1.217000	0.43442	-0.119000	0.15052	CGG		0.502	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1		NM_015440	
MUC17	140453	hgsc.bcm.edu;ucsc.edu	37	7	100677944	100677944	+	Missense_Mutation	SNP	T	T	C	rs10264727	byFrequency	TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr7:100677944T>C	ENST00000306151.4	+	3	3311	c.3247T>C	c.(3247-3249)Tct>Cct	p.S1083P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1083	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTTCTACAACTGC	0.507																																																	0								C	PRO/SER	1107,3299		5,1097,1101	457.0	379.0	405.0		3247	-1.5	0.0	7	dbSNP_119	405	933,7667		0,933,3367	no	missense	MUC17	NM_001040105.1	74	5,2030,4468	CC,CT,TT		10.8488,25.1248,15.6851	benign	1083/4494	100677944	2040,10966	2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3247T>C	7.37:g.100677944T>C	ENSP00000302716:p.Ser1083Pro	Somatic		WXS	SOLID	Phase_I	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.509	-0.867515	0.02590	0.251248	0.108488	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.74	-1.48	0.08745	.	.	.	.	.	T	0.00012	0.0000	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30679	-0.9970	9	0.02654	T	1	.	2.5705	0.04793	0.3829:0.1792:0.0:0.4379	rs10264727	1083	Q685J3	MUC17_HUMAN	P	1083	ENSP00000302716:S1083P	ENSP00000302716:S1083P	S	+	1	0	MUC17	100464664	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.501000	0.00450	-2.418000	0.00566	-1.386000	0.01163	TCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105	
MUC6	4588	hgsc.bcm.edu;ucsc.edu	37	11	1018366	1018366	+	Missense_Mutation	SNP	C	C	T	rs76741048		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr11:1018366C>T	ENST00000421673.2	-	31	4485	c.4435G>A	c.(4435-4437)Gcg>Acg	p.A1479T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1479	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGTTGGCGCTGAGTGGTTG	0.587																																																	0													202.0	202.0	202.0					11																	1018366		2183	4259	6442	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4435G>A	11.37:g.1018366C>T	ENSP00000406861:p.Ala1479Thr	Somatic		WXS	SOLID	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	0.093	-1.163713	0.01673	.	.	ENSG00000184956	ENST00000421673	T	0.17854	2.25	2.45	-1.37	0.09056	.	.	.	.	.	T	0.03178	0.0093	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35798	-0.9774	9	0.02654	T	1	.	1.1746	0.01832	0.1338:0.2724:0.1813:0.4124	.	1479	Q6W4X9	MUC6_HUMAN	T	1479	ENSP00000406861:A1479T	ENSP00000406861:A1479T	A	-	1	0	MUC6	1008366	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.166000	0.03129	-0.613000	0.05694	-2.537000	0.00180	GCG		0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540	
MUC6	4588	hgsc.bcm.edu	37	11	1018390	1018390	+	Missense_Mutation	SNP	C	C	A	rs111785507		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr11:1018390C>A	ENST00000421673.2	-	31	4461	c.4411G>T	c.(4411-4413)Gcc>Tcc	p.A1471S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1471	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGATGTGGCCATCTGTGCG	0.577																																																	0													250.0	244.0	246.0					11																	1018390		2188	4284	6472	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4411G>T	11.37:g.1018390C>A	ENSP00000406861:p.Ala1471Ser	Somatic		WXS	SOLID	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.238737	0.01493	.	.	ENSG00000184956	ENST00000421673	T	0.18657	2.2	2.69	-5.37	0.02681	.	.	.	.	.	T	0.03390	0.0098	N	0.00788	-1.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22173	-1.0224	9	0.02654	T	1	.	0.4328	0.00474	0.2134:0.2383:0.1724:0.3759	.	1471	Q6W4X9	MUC6_HUMAN	S	1471	ENSP00000406861:A1471S	ENSP00000406861:A1471S	A	-	1	0	MUC6	1008390	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.219000	0.00553	-1.874000	0.01133	-0.875000	0.02981	GCC		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540	
MYO1G	64005	hgsc.bcm.edu	37	7	45009718	45009718	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr7:45009718T>A	ENST00000258787.7	-	10	1389	c.1253A>T	c.(1252-1254)aAg>aTg	p.K418M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	418	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGCTGCAGCTTCTCGTTGCA	0.587																																																	0													76.0	69.0	72.0					7																	45009718		2203	4300	6503	SO:0001583	missense	64005			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1253A>T	7.37:g.45009718T>A	ENSP00000258787:p.Lys418Met	Somatic		WXS	SOLID	Phase_I	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309039	0.81247	.	.	ENSG00000136286	ENST00000258787	D	0.90004	-2.6	4.25	4.25	0.50352	Myosin head, motor domain (3);	0.000000	0.42548	D	0.000687	D	0.94152	0.8124	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.999;0.973	D;P	0.72625	0.978;0.895	D	0.94616	0.7809	10	0.62326	D	0.03	.	12.6185	0.56590	0.0:0.0:0.0:1.0	.	418;418	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	M	418	ENSP00000258787:K418M	ENSP00000258787:K418M	K	-	2	0	MYO1G	44976243	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.657000	0.83745	1.912000	0.55364	0.454000	0.30748	AAG		0.587	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			
NCOR1	9611	hgsc.bcm.edu	37	17	16068362	16068362	+	Silent	SNP	C	C	T	rs76375524		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr17:16068362C>T	ENST00000268712.3	-	5	806	c.549G>A	c.(547-549)caG>caA	p.Q183Q	NCOR1_ENST00000395848.1_Silent_p.Q74Q|NCOR1_ENST00000395851.1_Silent_p.Q183Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	183	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GATCCATACTCTGTATTAACT	0.373																																																	0													87.0	83.0	84.0					17																	16068362		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.549G>A	17.37:g.16068362C>T		Somatic		WXS	SOLID	Phase_I	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.373	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311	
NOS1	4842	hgsc.bcm.edu	37	12	117662919	117662919	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr12:117662919C>A	ENST00000338101.4	-	25	3834	c.3830G>T	c.(3829-3831)cGg>cTg	p.R1277L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R1243L			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	67					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTGGGGGTTCCGGGGCAGGTG	0.542																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													83.0	95.0	91.0					12																	117662919		1920	4135	6055	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3830G>T	12.37:g.117662919C>A	ENSP00000337459:p.Arg1277Leu	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610575	0.46527	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	T;T	0.76186	-1.0;-1.0	4.93	2.06	0.26882	.	0.240558	0.41938	D	0.000795	T	0.52789	0.1756	N	0.12961	0.28	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42616	-0.9441	10	0.42905	T	0.14	-6.3683	6.863	0.24077	0.0:0.5177:0.0:0.4823	.	1243	P29475	NOS1_HUMAN	L	1138;1243;1277	ENSP00000320758:R1243L;ENSP00000337459:R1277L	ENSP00000320758:R1243L	R	-	2	0	NOS1	116147302	0.992000	0.36948	0.996000	0.52242	0.990000	0.78478	0.914000	0.28624	0.679000	0.31345	0.561000	0.74099	CGG		0.542	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			
PDE4C	5143	hgsc.bcm.edu	37	19	18327573	18327573	+	Missense_Mutation	SNP	A	A	T	rs144273719		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr19:18327573A>T	ENST00000355502.3	-	16	2334	c.1463T>A	c.(1462-1464)cTg>cAg	p.L488Q	PDE4C_ENST00000598111.2_Missense_Mutation_p.L203Q|PDE4C_ENST00000447275.3_Missense_Mutation_p.L382Q|PDE4C_ENST00000262805.12_Missense_Mutation_p.L456Q|PDE4C_ENST00000597297.1_Missense_Mutation_p.L258Q|PDE4C_ENST00000594617.3_Missense_Mutation_p.L488Q|PDE4C_ENST00000594465.3_Missense_Mutation_p.L488Q|PDE4C_ENST00000539010.1_Missense_Mutation_p.L257Q|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	488					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.L488P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CATCCTGCGCAGACTCAGTCG	0.617																																																	1	Substitution - Missense(1)	skin(1)											97.0	90.0	92.0					19																	18327573		2203	4300	6503	SO:0001583	missense	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1463T>A	19.37:g.18327573A>T	ENSP00000347689:p.Leu488Gln	Somatic		WXS	SOLID	Phase_I	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	a	19.47	3.833054	0.71258	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	4.52	4.52	0.55395	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000003	D	0.93413	0.7899	M	0.92923	3.36	0.37188	D	0.90379	D;D;D;D	0.89917	0.998;1.0;0.999;0.998	D;D;D;D	0.85130	0.959;0.997;0.994;0.988	D	0.95786	0.8821	10	0.87932	D	0	.	11.8181	0.52222	1.0:0.0:0.0:0.0	.	488;456;294;203	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	Q	567;488;476;456;382;294;202;257;597	ENSP00000347689:L488Q;ENSP00000262805:L456Q;ENSP00000402091:L382Q;ENSP00000439470:L257Q	ENSP00000262805:L456Q	L	-	2	0	PDE4C	18188573	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	8.803000	0.91915	1.682000	0.51000	0.392000	0.25879	CTG		0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			
PDSS2	57107	hgsc.bcm.edu	37	6	107655456	107655456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr6:107655456delC	ENST00000369037.4	-	2	654	c.377delG	c.(376-378)agcfs	p.S127fs	PDSS2_ENST00000453874.2_Frame_Shift_Del_p.S127fs|PDSS2_ENST00000369031.4_Frame_Shift_Del_p.S127fs	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	127					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GTTCACGCTGCTGGGCCCAGC	0.478																																																	0													99.0	89.0	92.0					6																	107655456		2203	4300	6503	SO:0001589	frameshift_variant	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.377delG	6.37:g.107655456delC	ENSP00000358033:p.Ser127fs	Somatic		WXS	SOLID	Phase_I	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Frame_Shift_Del	DEL	ENST00000369037.4	37	CCDS5059.1																																																																																				0.478	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1		NM_020381	
PHF20L1	51105	hgsc.bcm.edu	37	8	133816091	133816091	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr8:133816091G>A	ENST00000395386.2	+	7	834	c.535G>A	c.(535-537)Gct>Act	p.A179T	PHF20L1_ENST00000395379.1_Missense_Mutation_p.A179T|PHF20L1_ENST00000395376.1_Missense_Mutation_p.A183T|PHF20L1_ENST00000337920.4_Missense_Mutation_p.A153T|PHF20L1_ENST00000395390.2_Missense_Mutation_p.A153T|PHF20L1_ENST00000220847.7_De_novo_Start_OutOfFrame	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	179							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAAAGCAGCTGCTGCAGCTGC	0.348																																																	0													44.0	45.0	44.0					8																	133816091		2202	4298	6500	SO:0001583	missense	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.535G>A	8.37:g.133816091G>A	ENSP00000378784:p.Ala179Thr	Somatic		WXS	SOLID	Phase_I	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016770	0.93404	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.59502	0.26;0.62;0.76;1.21;0.5;0.8;0.38;1.41	5.89	5.89	0.94794	.	0.276668	0.41712	D	0.000831	T	0.68924	0.3054	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;0.999;1.0;0.998	D;D;D;D;D	0.91635	0.995;0.997;0.995;0.999;0.995	T	0.63910	-0.6530	10	0.33141	T	0.24	-5.0361	19.239	0.93875	0.0:0.0:1.0:0.0	.	153;18;179;179;153	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	T	183;179;153;179;179;153;183;49;153;18	ENSP00000378781:A183T;ENSP00000378777:A179T;ENSP00000355301:A153T;ENSP00000378784:A179T;ENSP00000324519:A179T;ENSP00000338269:A153T;ENSP00000378775:A183T;ENSP00000378788:A153T	ENSP00000324519:A179T	A	+	1	0	PHF20L1	133885273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.484000	0.60271	2.788000	0.95919	0.585000	0.79938	GCT		0.348	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3		NM_016018	
PIKFYVE	200576	hgsc.bcm.edu	37	2	209190805	209190805	+	Silent	SNP	C	C	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:209190805C>A	ENST00000264380.4	+	20	3428	c.3270C>A	c.(3268-3270)ctC>ctA	p.L1090L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1090					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGTCTCCTCTCCTCAATAAAG	0.448																																																	0													60.0	66.0	64.0					2																	209190805		2203	4300	6503	SO:0001819	synonymous_variant	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3270C>A	2.37:g.209190805C>A		Somatic		WXS	SOLID	Phase_I	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	CCDS2382.1																																																																																				0.448	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2		NM_015040	
PLCB1	23236	hgsc.bcm.edu;ucsc.edu	37	20	8713925	8713925	+	Silent	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr20:8713925C>T	ENST00000338037.6	+	19	1956	c.1929C>T	c.(1927-1929)aaC>aaT	p.N643N	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.N643N|PLCB1_ENST00000378641.3_Silent_p.N643N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	643	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATGAATACAACGGGAAGAGTG	0.408																																																	0													127.0	120.0	122.0					20																	8713925		2203	4300	6503	SO:0001819	synonymous_variant	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1929C>T	20.37:g.8713925C>T		Somatic		WXS	SOLID	Phase_I	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	CCDS13102.1																																																																																				0.408	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			
PLXNB2	23654	hgsc.bcm.edu;ucsc.edu	37	22	50720489	50720489	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr22:50720489A>G	ENST00000449103.1	-	20	3279	c.3139T>C	c.(3139-3141)Ttc>Ctc	p.F1047L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1047L|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1047	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCATTGTGGAACACGTAGTCT	0.652																																																	0													52.0	58.0	56.0					22																	50720489		2139	4234	6373	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3139T>C	22.37:g.50720489A>G	ENSP00000409171:p.Phe1047Leu	Somatic		WXS	SOLID	Phase_I	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	A	0.304	-0.971815	0.02215	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.76316	-1.01;-1.01	4.45	1.14	0.20703	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.238380	0.05493	N	0.556932	T	0.62060	0.2397	N	0.15975	0.35	0.09310	N	1	B	0.18610	0.029	B	0.24701	0.055	T	0.45041	-0.9288	10	0.15952	T	0.53	.	7.9256	0.29872	0.7418:0.0:0.2582:0.0	.	1047	O15031	PLXB2_HUMAN	L	1047	ENSP00000409171:F1047L;ENSP00000352288:F1047L	ENSP00000352288:F1047L	F	-	1	0	PLXNB2	49062616	0.000000	0.05858	0.002000	0.10522	0.085000	0.17905	0.201000	0.17276	-0.028000	0.13850	-0.736000	0.03550	TTC		0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401	
PRKAR1A	5573	hgsc.bcm.edu;ucsc.edu	37	17	66511547	66511547	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr17:66511547T>A	ENST00000589228.1	+	2	135	c.7T>A	c.(7-9)Tct>Act	p.S3T	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.S3T|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.S3T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.S3T|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.S3T|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.S3T	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	3	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AACCATGGAGTCTGGCAGTAC	0.433			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)		yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	0													63.0	55.0	58.0					17																	66511547		2203	4300	6503	SO:0001583	missense	5573	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.7T>A	17.37:g.66511547T>A	ENSP00000464977:p.Ser3Thr	Somatic		WXS	SOLID	Phase_I	K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.375088	0.42105	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D;D	0.88818	-2.19;-2.19;-2.43;-2.19	5.1	2.51	0.30379	.	0.466245	0.23930	N	0.043149	D	0.83871	0.5348	M	0.65320	2	0.42482	D	0.992866	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.76537	-0.2923	10	0.36615	T	0.2	-15.5971	5.387	0.16224	0.3122:0.0:0.2666:0.4212	.	3;3	B2R5T5;P10644	.;KAP0_HUMAN	T	3	ENSP00000351410:S3T;ENSP00000376475:S3T;ENSP00000376474:S3T;ENSP00000445625:S3T	ENSP00000351410:S3T	S	+	1	0	PRKAR1A	64023142	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.404000	0.52623	0.733000	0.32492	0.528000	0.53228	TCT		0.433	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			
PSD4	23550	hgsc.bcm.edu	37	2	113940963	113940963	+	Silent	SNP	T	T	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:113940963T>G	ENST00000245796.6	+	2	1125	c.930T>G	c.(928-930)gcT>gcG	p.A310A	PSD4_ENST00000441564.3_Silent_p.A310A	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	310					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGACGGCGCTGCTATCAGTG	0.612																																																	0													61.0	51.0	54.0					2																	113940963		2203	4299	6502	SO:0001819	synonymous_variant	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.930T>G	2.37:g.113940963T>G		Somatic		WXS	SOLID	Phase_I	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	CCDS33276.1																																																																																				0.612	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1		NM_012455	
PROC	5624	hgsc.bcm.edu;ucsc.edu	37	2	128178989	128178989	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:128178989G>C	ENST00000234071.3	+	3	288	c.201G>C	c.(199-201)gaG>gaC	p.E67D	PROC_ENST00000453608.2_Missense_Mutation_p.E88D|PROC_ENST00000409048.1_Missense_Mutation_p.E67D|PROC_ENST00000422777.3_Missense_Mutation_p.E67D|MIR4783_ENST00000580343.1_RNA	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	67	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GTGACTTCGAGGAGGCCAAGG	0.587																																																	0													81.0	68.0	72.0					2																	128178989		2203	4300	6503	SO:0001583	missense	5624			X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.201G>C	2.37:g.128178989G>C	ENSP00000234071:p.Glu67Asp	Somatic		WXS	SOLID	Phase_I	B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	CCDS2145.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915982	0.73098	.	.	ENSG00000115718	ENST00000234071;ENST00000429925;ENST00000442644;ENST00000453608;ENST00000427769;ENST00000409048;ENST00000422777	D;D;D;D;D;D;D	0.99905	-7.72;-7.72;-7.72;-7.72;-7.72;-7.72;-7.72	5.2	1.94	0.25998	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.171412	0.28262	N	0.015983	D	0.99891	0.9948	M	0.89163	3.01	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.973;1.0;1.0	D	0.96886	0.9649	10	0.87932	D	0	.	11.3533	0.49600	0.2343:0.0:0.7657:0.0	.	88;88;67;67	B4DPQ7;B4DPQ3;E7END6;P04070	.;.;.;PROC_HUMAN	D	67;67;67;88;67;67;67	ENSP00000234071:E67D;ENSP00000412697:E67D;ENSP00000411241:E67D;ENSP00000404030:E88D;ENSP00000406295:E67D;ENSP00000386679:E67D;ENSP00000409543:E67D	ENSP00000234071:E67D	E	+	3	2	PROC	127895459	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	1.594000	0.36697	0.583000	0.29574	0.561000	0.74099	GAG		0.587	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2		NM_000312	
RADIL	55698	hgsc.bcm.edu;ucsc.edu	37	7	4839090	4839090	+	Silent	SNP	G	G	A	rs376538057		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr7:4839090G>A	ENST00000399583.3	-	15	3334	c.3147C>T	c.(3145-3147)ggC>ggT	p.G1049G	RADIL_ENST00000538469.1_Silent_p.G809G|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1049	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCTTCTTCCCGCCATGACGGA	0.642																																																	0								G		1,3995		0,1,1997	61.0	69.0	67.0		3147	-7.0	0.1	7		67	2,8328		0,2,4163	no	coding-synonymous	RADIL	NM_018059.4		0,3,6160	AA,AG,GG		0.024,0.025,0.0243		1049/1076	4839090	3,12323	1998	4165	6163	SO:0001819	synonymous_variant	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.3147C>T	7.37:g.4839090G>A		Somatic		WXS	SOLID	Phase_I	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	CCDS43544.1																																																																																				0.642	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2		NM_018059	
RBM19	9904	hgsc.bcm.edu;ucsc.edu	37	12	114380203	114380203	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr12:114380203C>T	ENST00000545145.2	-	14	1741	c.1663G>A	c.(1663-1665)Ggg>Agg	p.G555R	RBM19_ENST00000261741.5_Missense_Mutation_p.G555R|RBM19_ENST00000392561.3_Missense_Mutation_p.G555R	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	555					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G555R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGGGTTTCCCCCAGAGCCACG	0.622																																																	1	Substitution - Missense(1)	breast(1)											39.0	36.0	37.0					12																	114380203		2203	4300	6503	SO:0001583	missense	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1663G>A	12.37:g.114380203C>T	ENSP00000442053:p.Gly555Arg	Somatic		WXS	SOLID	Phase_I	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574353	0.65878	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05925	3.37;3.37;3.37	4.48	4.48	0.54585	Nucleotide-binding, alpha-beta plait (1);	0.054850	0.64402	D	0.000001	T	0.29423	0.0733	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.14448	-1.0472	10	0.51188	T	0.08	-35.0945	17.156	0.86791	0.0:1.0:0.0:0.0	.	555	Q9Y4C8	RBM19_HUMAN	R	555	ENSP00000442053:G555R;ENSP00000376344:G555R;ENSP00000261741:G555R	ENSP00000261741:G555R	G	-	1	0	RBM19	112864586	1.000000	0.71417	0.998000	0.56505	0.200000	0.23975	7.375000	0.79646	2.046000	0.60703	0.484000	0.47621	GGG		0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1		NM_016196	
REL	5966	hgsc.bcm.edu	37	2	61147174	61147174	+	Splice_Site	SNP	A	A	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:61147174A>C	ENST00000295025.8	+	8	1173		c.e8-1		REL_ENST00000394479.3_Splice_Site	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CTTTCTAATCAGATACTTACG	0.303			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													65.0	68.0	67.0					2																	61147174		2203	4299	6502	SO:0001630	splice_region_variant	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.854-1A>C	2.37:g.61147174A>C		Somatic		WXS	SOLID	Phase_I	Q17RU2|Q2PNZ7|Q6LDY0	Splice_Site	SNP	ENST00000295025.8	37	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547408	0.65311	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3303	0.60483	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	REL	61000678	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.212000	0.65225	2.226000	0.72624	0.482000	0.46254	.		0.303	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3		NM_002908	Intron
RNPS1	10921	hgsc.bcm.edu;ucsc.edu	37	16	2314218	2314218	+	Silent	SNP	G	G	C			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr16:2314218G>C	ENST00000565678.1	-	3	731	c.186C>G	c.(184-186)acC>acG	p.T62T	RNPS1_ENST00000397086.2_Silent_p.T62T|RNPS1_ENST00000566458.1_Silent_p.T39T|RNPS1_ENST00000320225.5_Silent_p.T62T|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000568631.1_Silent_p.T62T|RNPS1_ENST00000301730.8_Silent_p.T62T|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000567147.1_Silent_p.T39T			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	62	Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						GCCTCTTTCGGGTTTTGTCCC	0.607																																																	0													72.0	75.0	74.0					16																	2314218		2198	4300	6498	SO:0001819	synonymous_variant	10921			AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.186C>G	16.37:g.2314218G>C		Somatic		WXS	SOLID	Phase_I	A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Silent	SNP	ENST00000565678.1	37	CCDS10465.1																																																																																				0.607	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1		NM_080594	
SLC16A7	9194	hgsc.bcm.edu	37	12	60165123	60165123	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr12:60165123T>G	ENST00000261187.4	+	3	505	c.341T>G	c.(340-342)cTc>cGc	p.L114R	SLC16A7_ENST00000552024.1_Missense_Mutation_p.L114R|SLC16A7_ENST00000543448.1_Missense_Mutation_p.L15R|SLC16A7_ENST00000552432.1_Missense_Mutation_p.L114R|SLC16A7_ENST00000547379.1_Missense_Mutation_p.L114R	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	114					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	CAGCTGTACCTCACTATGGGA	0.423																																																	0													223.0	195.0	205.0					12																	60165123		2203	4300	6503	SO:0001583	missense	9194			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.341T>G	12.37:g.60165123T>G	ENSP00000261187:p.Leu114Arg	Somatic		WXS	SOLID	Phase_I	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335270	0.81801	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.94	5.94	0.96194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.618933	0.16830	N	0.197793	T	0.77239	0.4101	M	0.88181	2.935	0.49299	D	0.999779	D	0.53745	0.962	D	0.66979	0.948	T	0.79680	-0.1702	9	.	.	.	.	16.3908	0.83537	0.0:0.0:0.0:1.0	.	114	O60669	MOT2_HUMAN	R	114;114;114;114;114;15	ENSP00000449547:L114R;ENSP00000448071:L114R;ENSP00000448742:L114R;ENSP00000446722:L114R;ENSP00000261187:L114R;ENSP00000443731:L15R	.	L	+	2	0	SLC16A7	58451390	1.000000	0.71417	0.087000	0.20705	0.030000	0.12068	7.948000	0.87774	2.269000	0.75478	0.455000	0.32223	CTC		0.423	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1		NM_004731	
SLC25A13	10165	hgsc.bcm.edu	37	7	95799395	95799395	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr7:95799395A>G	ENST00000265631.5	-	13	1409	c.1273T>C	c.(1273-1275)Tcg>Ccg	p.S425P	SLC25A13_ENST00000542654.1_Missense_Mutation_p.S317P|SLC25A13_ENST00000416240.2_Missense_Mutation_p.S426P			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	425					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AGTGGGACCGAACCATCTTTG	0.348																																																	0													115.0	118.0	117.0					7																	95799395		2203	4300	6503	SO:0001583	missense	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1273T>C	7.37:g.95799395A>G	ENSP00000265631:p.Ser425Pro	Somatic		WXS	SOLID	Phase_I	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210411	0.58343	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.78126	-1.15;-1.15;-1.15	4.92	4.92	0.64577	Mitochondrial carrier domain (2);	0.967373	0.08499	N	0.936803	T	0.71871	0.3391	N	0.17800	0.525	0.47737	D	0.999507	P;P;P	0.42203	0.594;0.773;0.773	B;B;B	0.43838	0.306;0.433;0.433	T	0.65676	-0.6110	10	0.40728	T	0.16	-10.7135	15.0347	0.71734	1.0:0.0:0.0:0.0	.	317;426;425	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	P	425;426;317	ENSP00000265631:S425P;ENSP00000400101:S426P;ENSP00000440484:S317P	ENSP00000265631:S425P	S	-	1	0	SLC25A13	95637331	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	5.606000	0.67641	2.204000	0.70986	0.383000	0.25322	TCG		0.348	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2		NM_014251	
SLC4A11	83959	hgsc.bcm.edu	37	20	3210301	3210301	+	Silent	SNP	G	G	A	rs41281860	byFrequency	TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr20:3210301G>A	ENST00000380056.3	-	13	1706	c.1659C>T	c.(1657-1659)aaC>aaT	p.N553N	SLC4A11_ENST00000380059.3_Silent_p.N580N|SLC4A11_ENST00000539553.2_Silent_p.N537N|SLC4A11_ENST00000488544.1_5'UTR	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	553	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGAAGCTGGCGTTGAGGGCAG	0.642													G|||	243	0.0485224	0.0166	0.0749	5008	,	,		16738	0.003		0.1471	False		,,,				2504	0.0184				NSCLC(190;922 2139 10266 10292 38692)												0								G	,,	170,4236	112.1+/-150.2	2,166,2035	64.0	66.0	65.0		1611,1740,1659	0.6	0.1	20	dbSNP_127	65	1050,7550	222.4+/-259.5	74,902,3324	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A11	NM_001174089.1,NM_001174090.1,NM_032034.3	,,	76,1068,5359	AA,AG,GG		12.2093,3.8584,9.3803	,,	537/876,580/919,553/892	3210301	1220,11786	2203	4300	6503	SO:0001819	synonymous_variant	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1659C>T	20.37:g.3210301G>A		Somatic		WXS	SOLID	Phase_I	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																				0.642	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			
SPAM1	6677	hgsc.bcm.edu	37	7	123594531	123594531	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr7:123594531T>A	ENST00000439500.1	+	4	1520	c.907T>A	c.(907-909)Tat>Aat	p.Y303N	SPAM1_ENST00000223028.7_Missense_Mutation_p.Y303N|SPAM1_ENST00000340011.5_Missense_Mutation_p.Y303N|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y303N|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y303N	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	303					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTTTTTGCATATACCCGCAT	0.403																																																	0													41.0	40.0	40.0					7																	123594531		2202	4299	6501	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.907T>A	7.37:g.123594531T>A	ENSP00000402123:p.Tyr303Asn	Somatic		WXS	SOLID	Phase_I	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607770	0.87258	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72867	0.3514	H	0.96365	3.81	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82086	-0.0631	9	.	.	.	-61.0096	16.0034	0.80327	0.0:0.0:0.0:1.0	.	303;303	Q8TC30;P38567	.;HYALP_HUMAN	N	303	ENSP00000386028:Y303N;ENSP00000417934:Y303N;ENSP00000345849:Y303N;ENSP00000402123:Y303N;ENSP00000223028:Y303N	.	Y	+	1	0	SPAM1	123381767	1.000000	0.71417	0.501000	0.27601	0.007000	0.05969	7.587000	0.82613	2.371000	0.80710	0.533000	0.62120	TAT		0.403	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			
SVIL	6840	hgsc.bcm.edu	37	10	29840075	29840075	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr10:29840075A>G	ENST00000355867.4	-	6	1030	c.278T>C	c.(277-279)aTg>aCg	p.M93T	SVIL_ENST00000375398.2_Missense_Mutation_p.M93T|SVIL_ENST00000375400.3_Missense_Mutation_p.M93T	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	93	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTGGGTGTCCATGGTACCCGA	0.502																																																	0													152.0	129.0	137.0					10																	29840075		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.278T>C	10.37:g.29840075A>G	ENSP00000348128:p.Met93Thr	Somatic		WXS	SOLID	Phase_I	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.514222	0.00975	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.39592	1.07;1.07;1.07	5.27	1.54	0.23209	.	0.502533	0.23674	N	0.045684	T	0.33933	0.0880	M	0.66939	2.045	0.80722	D	1	B;P	0.37914	0.002;0.611	B;B	0.33750	0.002;0.169	T	0.04811	-1.0925	9	.	.	.	-14.1323	6.4929	0.22125	0.7281:0.1317:0.1403:0.0	.	93;93	O95425-2;O95425	.;SVIL_HUMAN	T	93	ENSP00000364549:M93T;ENSP00000364547:M93T;ENSP00000348128:M93T	.	M	-	2	0	SVIL	29880081	1.000000	0.71417	0.637000	0.29366	0.296000	0.27459	3.850000	0.55918	0.009000	0.14813	0.482000	0.46254	ATG		0.502	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			
SYNE2	23224	hgsc.bcm.edu;ucsc.edu	37	14	64496675	64496675	+	Silent	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr14:64496675A>G	ENST00000344113.4	+	44	6989	c.6777A>G	c.(6775-6777)acA>acG	p.T2259T	SYNE2_ENST00000358025.3_Silent_p.T2259T|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.T2259T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2259					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGCGTCACAGACCTGAATA	0.383																																																	0													88.0	84.0	85.0					14																	64496675		1828	4089	5917	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6777A>G	14.37:g.64496675A>G		Somatic		WXS	SOLID	Phase_I	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914	
SYT12	91683	hgsc.bcm.edu;ucsc.edu	37	11	66811136	66811136	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr11:66811136T>G	ENST00000393946.2	+	8	1811	c.649T>G	c.(649-651)Ttt>Gtt	p.F217V	SYT12_ENST00000527043.1_Missense_Mutation_p.F217V|SYT12_ENST00000525457.1_Missense_Mutation_p.F217V			Q8IV01	SYT12_HUMAN	synaptotagmin XII	217	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTCCATCTTCTTTGATGAGAA	0.562																																					Ovarian(65;2862 3307)												0													92.0	97.0	96.0					11																	66811136		2200	4295	6495	SO:0001583	missense	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.649T>G	11.37:g.66811136T>G	ENSP00000377520:p.Phe217Val	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000393946.2	37	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642903	0.87859	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.72167	-0.63;-0.63;-0.63	5.25	5.25	0.73442	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.75860	0.3907	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.70487	0.969	T	0.78750	-0.2082	10	0.87932	D	0	.	13.1482	0.59474	0.0:0.0:0.0:1.0	.	217	Q8IV01	SYT12_HUMAN	V	217	ENSP00000377520:F217V;ENSP00000431400:F217V;ENSP00000435316:F217V	ENSP00000377520:F217V	F	+	1	0	SYT12	66567712	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.922000	0.87538	1.999000	0.58509	0.459000	0.35465	TTT		0.562	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1		NM_177963	
THBS2	7058	hgsc.bcm.edu;ucsc.edu	37	6	169649025	169649025	+	Silent	SNP	G	G	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr6:169649025G>T	ENST00000366787.3	-	4	345	c.96C>A	c.(94-96)atC>atA	p.I32I		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	32	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGATGTTGCTGATACTGAAAA	0.612																																					Esophageal Squamous(91;219 1934 18562 44706)												0													99.0	70.0	80.0					6																	169649025		2203	4300	6503	SO:0001819	synonymous_variant	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.96C>A	6.37:g.169649025G>T		Somatic		WXS	SOLID	Phase_I	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																				0.612	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		NM_003247	
TRMT61B	55006	hgsc.bcm.edu	37	2	29093128	29093128	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:29093128A>G	ENST00000306108.5	-	1	39	c.16T>C	c.(16-18)Tgc>Cgc	p.C6R		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	6					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GGACCGCGGCACCATGCCATT	0.647																																																	0													22.0	27.0	26.0					2																	29093128		2194	4283	6477	SO:0001583	missense	55006			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.16T>C	2.37:g.29093128A>G	ENSP00000302801:p.Cys6Arg	Somatic		WXS	SOLID	Phase_I	Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	A	0.855	-0.737232	0.03111	.	.	ENSG00000171103	ENST00000306108	T	0.40225	1.04	4.65	-5.65	0.02459	.	1.004860	0.08015	N	0.991044	T	0.12050	0.0293	N	0.02916	-0.46	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29912	-0.9996	10	0.05620	T	0.96	.	4.3031	0.10933	0.3227:0.0:0.1972:0.48	.	6;6	F8WDR2;Q9BVS5	.;TR61B_HUMAN	R	6	ENSP00000302801:C6R	ENSP00000302801:C6R	C	-	1	0	TRMT61B	28946632	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.146000	0.03191	-0.869000	0.04052	-1.670000	0.00746	TGC		0.647	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1		NM_017910	
UNC80	285175	hgsc.bcm.edu	37	2	210832287	210832287	+	Silent	SNP	G	G	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr2:210832287G>T	ENST00000439458.1	+	51	7814	c.7734G>T	c.(7732-7734)gtG>gtT	p.V2578V	UNC80_ENST00000272845.6_Silent_p.V2573V|UNC80_ENST00000539183.1_Silent_p.V24V	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2578					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CTGAGGCAGTGAGGCCGGCCC	0.473																																																	0													73.0	65.0	68.0					2																	210832287		692	1591	2283	SO:0001819	synonymous_variant	285175			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.7734G>T	2.37:g.210832287G>T		Somatic		WXS	SOLID	Phase_I	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	ENST00000439458.1	37	CCDS46504.1																																																																																				0.473	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_182587	
USP18	11274	hgsc.bcm.edu	37	22	18655999	18655999	+	Missense_Mutation	SNP	A	A	G	rs138527339		TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr22:18655999A>G	ENST00000215794.7	+	9	1404	c.974A>G	c.(973-975)aAt>aGt	p.N325S		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	325	USP.				cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TACATCCGGAATGCTGTGGAT	0.493																																																	0													24.0	22.0	23.0					22																	18655999		2188	4270	6458	SO:0001583	missense	11274			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"""Ubiquitin-specific peptidases"""	12616	protein-coding gene	gene with protein product		607057	"""ubiquitin specific protease 18"""			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.974A>G	22.37:g.18655999A>G	ENSP00000215794:p.Asn325Ser	Somatic		WXS	SOLID	Phase_I	Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	CCDS13752.1	165	0.07554945054945054	49	0.09959349593495935	12	0.03314917127071823	22	0.038461538461538464	82	0.10817941952506596	.	1.766	-0.485694	0.04352	.	.	ENSG00000184979	ENST00000215794;ENST00000441683	T	0.05513	3.43	4.83	3.8	0.43715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.273193	0.42172	N	0.000760	T	0.00109	0.0003	L	0.33339	1.005	0.22989	N	0.998462	B	0.18310	0.027	B	0.18871	0.023	T	0.48103	-0.9064	10	0.07175	T	0.84	.	6.5499	0.22427	0.8058:0.0:0.1942:0.0	.	325	Q9UMW8	UBP18_HUMAN	S	325;157	ENSP00000215794:N325S	ENSP00000215794:N325S	N	+	2	0	USP18	17035999	0.964000	0.33143	0.892000	0.35008	0.256000	0.26092	1.980000	0.40618	0.798000	0.33994	0.519000	0.50382	AAT		0.493	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			
ZFR2	23217	hgsc.bcm.edu	37	19	3833722	3833722	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr19:3833722A>T	ENST00000262961.4	-	3	329	c.319T>A	c.(319-321)Tac>Aac	p.Y107N	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	107							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GACTGGAAGTACGGCCTGTCC	0.627																																																	0													38.0	46.0	43.0					19																	3833722		2198	4294	6492	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.319T>A	19.37:g.3833722A>T	ENSP00000262961:p.Tyr107Asn	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	A	9.541	1.113345	0.20795	.	.	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.18960	2.99;2.18	3.03	-4.06	0.03986	.	0.840574	0.10362	U	0.683940	T	0.14098	0.0341	L	0.46157	1.445	0.09310	N	0.999999	P	0.35011	0.48	B	0.28553	0.091	T	0.08066	-1.0740	10	0.72032	D	0.01	1.1747	6.903	0.24293	0.2822:0.6018:0.116:0.0	.	107	Q9UPR6	ZFR2_HUMAN	N	107	ENSP00000262961:Y107N;ENSP00000388974:Y107N	ENSP00000262961:Y107N	Y	-	1	0	ZFR2	3784722	0.047000	0.20315	0.000000	0.03702	0.001000	0.01503	0.807000	0.27140	-1.149000	0.02843	-0.558000	0.04189	TAC		0.627	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2		NM_015174	
ZNF100	163227	hgsc.bcm.edu	37	19	21910451	21910451	+	Silent	SNP	A	A	C	rs35587380	byFrequency	TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr19:21910451A>C	ENST00000358296.6	-	5	861	c.663T>G	c.(661-663)acT>acG	p.T221T	ZNF100_ENST00000305570.6_Silent_p.T157T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTTTATGTTGAGTTAGGTGTA	0.318													N|||	514	0.102636	0.1369	0.0533	5008	,	,		19858	0.0218		0.0596	False		,,,				2504	0.2188																0								A		621,3465		51,519,1473	53.0	55.0	55.0		663	1.0	0.0	19	dbSNP_126	55	631,7821		23,585,3618	no	coding-synonymous	ZNF100	NM_173531.3		74,1104,5091	CC,CA,AA		7.4657,15.1982,9.9856		221/543	21910451	1252,11286	2043	4226	6269	SO:0001819	synonymous_variant	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.663T>G	19.37:g.21910451A>C		Somatic		WXS	SOLID	Phase_I	Q7M4M0	Silent	SNP	ENST00000358296.6	37	CCDS42538.1																																																																																				0.318	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1		NM_173531	
ZNF791	163049	hgsc.bcm.edu;ucsc.edu	37	19	12739350	12739350	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr19:12739350C>T	ENST00000343325.4	+	4	1169	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F	ZNF791_ENST00000540038.1_Missense_Mutation_p.S227F|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.S304F|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTGGGAAATCTTTCAGTGCA	0.408																																																	0													51.0	56.0	54.0					19																	12739350		2203	4300	6503	SO:0001583	missense	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1007C>T	19.37:g.12739350C>T	ENSP00000342974:p.Ser336Phe	Somatic		WXS	SOLID	Phase_I	B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471736	0.26423	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.51574	0.7;0.7;0.7	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38585	0.1046	L	0.49699	1.58	0.09310	N	1	P	0.45126	0.851	B	0.41374	0.355	T	0.33394	-0.9870	9	0.72032	D	0.01	.	4.3047	0.10940	0.0:0.7871:0.0:0.2129	.	336	Q3KP31	ZN791_HUMAN	F	336;318;304;227	ENSP00000342974:S336F;ENSP00000441761:S304F;ENSP00000441038:S227F	ENSP00000342974:S336F	S	+	2	0	ZNF791	12600350	0.000000	0.05858	0.039000	0.18376	0.807000	0.45602	-0.027000	0.12371	1.007000	0.39238	0.491000	0.48974	TCT		0.408	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1		NM_153358	
ZNF574	64763	hgsc.bcm.edu	37	19	42584386	42584386	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4813-01A-01D-1361-10	TCGA-B0-4813-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7a67b2e-6b62-4251-9053-87bf0abb15ef	168bd71c-e04a-41fb-96ce-65bf61c867c6	g.chr19:42584386T>G	ENST00000600245.1	+	2	2283	c.1628T>G	c.(1627-1629)cTc>cGc	p.L543R	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.L633R|ZNF574_ENST00000359044.4_Missense_Mutation_p.L543R			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CGCCACCGGCTCACACACACA	0.652																																																	0													98.0	111.0	107.0					19																	42584386		2203	4300	6503	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1628T>G	19.37:g.42584386T>G	ENSP00000469029:p.Leu543Arg	Somatic		WXS	SOLID	Phase_I	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836666	0.50951	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.12255	2.7;2.7	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.09423	0.0232	N	0.00602	-1.34	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.41893	-0.9483	10	0.02654	T	1	-20.6526	14.0101	0.64490	0.0:0.0:0.0:1.0	.	543;632	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	R	633;543;150	ENSP00000222339:L633R;ENSP00000351939:L543R	ENSP00000222339:L633R	L	+	2	0	ZNF574	47276226	0.004000	0.15560	1.000000	0.80357	0.759000	0.43091	1.423000	0.34837	1.958000	0.56883	0.528000	0.53228	CTC		0.652	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1		NM_022752	
