#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_Chromosome_hg18	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_End_position_hg18	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_ORegAnno_bin	i_Start_position_hg18	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_refseq_mrna_id	i_secondary_variant_classification
CRHR2	1395	hgsc.bcm.edu	37	7	30693202	30693202	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:30693202C>T	ENST00000471646.1	-	12	1527	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Silent_p.V356V|CRHR2_ENST00000348438.4_Silent_p.V397V	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	370					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCTCTTCCTCACGGCTGAGC	0.632																																																	0			7											107.0	93.0	97.0					7																	30693202		2203	4300	6503	30659727	SO:0001819	synonymous_variant	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1110G>A	7.37:g.30693202C>T			30659727	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	CCDS5429.1																																																																																				0.632	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3		
EGFR	1956	hgsc.bcm.edu	37	7	55241674	55241674	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:55241674A>G	ENST00000275493.2	+	18	2299	c.2122A>G	c.(2122-2124)Aag>Gag	p.K708E	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.K663E|EGFR_ENST00000454757.2_Missense_Mutation_p.K655E	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	708					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.K708E(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGGATCTTGAAGGAAACTGA	0.562		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	1	Substitution - Missense(1)	ovary(1)	7											88.0	91.0	90.0					7																	55241674		2203	4300	6503	55209168	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2122A>G	7.37:g.55241674A>G	ENSP00000275493:p.Lys708Glu		55209168	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.980676	0.92982	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.62232	0.04;0.04;0.04	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78578	0.4305	M	0.74258	2.255	0.58432	D	0.999999	P;D	0.89917	0.621;1.0	B;D	0.72338	0.267;0.977	T	0.81234	-0.1025	10	0.87932	D	0	.	15.0123	0.71557	1.0:0.0:0.0:0.0	.	663;708	Q504U8;P00533	.;EGFR_HUMAN	E	663;578;708;655	ENSP00000415559:K663E;ENSP00000275493:K708E;ENSP00000395243:K655E	ENSP00000275493:K708E	K	+	1	0	EGFR	55209168	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.306000	0.96204	2.215000	0.71742	0.460000	0.39030	AAG		0.562	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
ZNF479	90827	hgsc.bcm.edu	37	7	57188404	57188404	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:57188404G>T	ENST00000331162.4	-	5	988	c.718C>A	c.(718-720)Cca>Aca	p.P240T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	240					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)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATCTATATGGTTTCTCTCCA	0.398																																																	0			7											21.0	23.0	22.0					7																	57188404		2011	4194	6205	57192346	SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.718C>A	7.37:g.57188404G>T	ENSP00000333776:p.Pro240Thr		57192346		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.540410	0.27563	.	.	ENSG00000185177	ENST00000331162	T	0.16897	2.31	0.946	0.946	0.19549	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21718	0.0523	M	0.82193	2.58	0.34411	D	0.696371	P	0.36086	0.536	B	0.35899	0.213	T	0.30475	-0.9977	9	0.72032	D	0.01	.	7.3305	0.26580	0.0:0.0:1.0:0.0	.	240	Q96JC4	ZN479_HUMAN	T	240	ENSP00000333776:P240T	ENSP00000333776:P240T	P	-	1	0	ZNF479	57192346	0.995000	0.38212	0.118000	0.21660	0.077000	0.17291	3.756000	0.55205	0.399000	0.25367	0.400000	0.26472	CCA		0.398	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
WBSCR17	64409	hgsc.bcm.edu	37	7	70880968	70880968	+	Missense_Mutation	SNP	G	G	A	rs367865697		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:70880968G>A	ENST00000333538.5	+	4	1317	c.683G>A	c.(682-684)cGc>cAc	p.R228H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	228	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGCCTGATCCGCGCTCGCATT	0.572																																																	0			7						G	HIS/ARG	0,4406		0,0,2203	91.0	78.0	82.0		683	5.0	1.0	7		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	WBSCR17	NM_022479.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	228/599	70880968	1,13005	2203	4300	6503	70518904	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.683G>A	7.37:g.70880968G>A	ENSP00000329654:p.Arg228His		70518904	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466726	0.96257	0.0	1.16E-4	ENSG00000185274	ENST00000333538	T	0.61980	0.06	5.04	5.04	0.67666	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	M	0.87180	2.865	0.80722	D	1	D	0.58620	0.983	P	0.58820	0.846	D	0.84356	0.0535	10	0.87932	D	0	.	17.3775	0.87396	0.0:0.0:1.0:0.0	.	228	Q6IS24	GLTL3_HUMAN	H	228	ENSP00000329654:R228H	ENSP00000329654:R228H	R	+	2	0	WBSCR17	70518904	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.378000	0.97191	2.351000	0.79841	0.462000	0.41574	CGC		0.572	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
ZP3	7784	hgsc.bcm.edu	37	7	76062905	76062905	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:76062905G>A	ENST00000394857.3	+	4	712	c.654G>A	c.(652-654)gtG>gtA	p.V218V	ZP3_ENST00000416245.1_Silent_p.V42V|ZP3_ENST00000336517.4_Silent_p.V167V	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	218	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ACCACTGCGTGGCCACACCGA	0.597																																																	0			7											125.0	108.0	113.0					7																	76062905		2203	4300	6503	75900841	SO:0001819	synonymous_variant	7784			M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.654G>A	7.37:g.76062905G>A			75900841	Q06633|Q29RW0	Silent	SNP	ENST00000394857.3	37	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	G	6.631	0.484872	0.12641	.	.	ENSG00000188372	ENST00000394860	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.6654	16.7058	0.85371	0.0:0.0:1.0:0.0	.	.	.	.	X	40	.	.	W	+	2	0	ZP3	75900841	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	6.318000	0.72866	2.534000	0.85438	0.655000	0.94253	TGG		0.597	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1		
ZNF804B	219578	hgsc.bcm.edu	37	7	88963747	88963747	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:88963747T>C	ENST00000333190.4	+	4	2060	c.1451T>C	c.(1450-1452)cTt>cCt	p.L484P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	484							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATTTTAAGCTTTCTCGGAAC	0.423										HNSCC(36;0.09)																																							0			7											50.0	50.0	50.0					7																	88963747		2203	4299	6502	88801683	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1451T>C	7.37:g.88963747T>C	ENSP00000329638:p.Leu484Pro		88801683	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787441	0.49997	.	.	ENSG00000182348	ENST00000333190	T	0.06933	3.24	5.49	1.6	0.23607	.	0.442309	0.21471	N	0.073982	T	0.19967	0.0480	M	0.76328	2.33	0.58432	D	0.999992	D	0.64830	0.994	P	0.60173	0.87	T	0.00978	-1.1493	10	0.72032	D	0.01	-6.9896	6.8767	0.24151	0.2373:0.0:0.2223:0.5404	.	484	A4D1E1	Z804B_HUMAN	P	484	ENSP00000329638:L484P	ENSP00000329638:L484P	L	+	2	0	ZNF804B	88801683	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.967000	0.29344	0.518000	0.28383	0.533000	0.62120	CTT		0.423	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
COL1A2	1278	hgsc.bcm.edu	37	7	94048862	94048862	+	Splice_Site	SNP	G	G	A	rs34147460	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:94048862G>A	ENST00000297268.6	+	34	2549	c.2078G>A	c.(2077-2079)cGg>cAg	p.R693Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	693			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACAGGTGACCGGGTAAGCATG	0.473										HNSCC(75;0.22)			G|||	4	0.000798722	0.0	0.0	5008	,	,		17032	0.001		0.003	False		,,,				2504	0.0																0			7						G	GLN/ARG	0,4406		0,0,2203	164.0	153.0	157.0		2078	5.5	1.0	7	dbSNP_126	157	12,8588	9.8+/-36.6	0,12,4288	yes	missense-near-splice	COL1A2	NM_000089.3	43	0,12,6491	AA,AG,GG		0.1395,0.0,0.0923	possibly-damaging	693/1367	94048862	12,12994	2203	4300	6503	93886798	SO:0001630	splice_region_variant	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2079+1G>A	7.37:g.94048862G>A			93886798	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	17.98	3.521458	0.64747	0.0	0.001395	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93604	-3.25	5.53	5.53	0.82687	.	0.059760	0.64402	D	0.000002	D	0.89125	0.6626	L	0.31526	0.94	0.47245	D	0.999369	P	0.42908	0.793	B	0.35931	0.214	D	0.90002	0.4115	10	0.56958	D	0.05	.	19.4491	0.94860	0.0:0.0:1.0:0.0	rs34147460	693	P08123	CO1A2_HUMAN	Q	693;694	ENSP00000297268:R693Q	ENSP00000297268:R693Q	R	+	2	0	COL1A2	93886798	0.151000	0.22747	1.000000	0.80357	0.971000	0.66376	0.670000	0.25157	2.781000	0.95711	0.650000	0.86243	CGG		0.473	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	Missense_Mutation
NPTX2	4885	hgsc.bcm.edu	37	7	98257797	98257797	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:98257797C>T	ENST00000265634.3	+	5	1317	c.1152C>T	c.(1150-1152)cgC>cgT	p.R384R		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	384	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCGTCCTTCGCGCACAAGAAA	0.562																																																	0			7											98.0	77.0	84.0					7																	98257797		2203	4300	6503	98095733	SO:0001819	synonymous_variant	4885				CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1152C>T	7.37:g.98257797C>T			98095733	A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	CCDS5657.1																																																																																				0.562	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
MUC17	140453	hgsc.bcm.edu	37	7	100677278	100677278	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:100677278A>G	ENST00000306151.4	+	3	2645	c.2581A>G	c.(2581-2583)Agt>Ggt	p.S861G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	861	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)					CTCAACTTATAGTGAAGGAAG	0.483																																																	0			7											298.0	284.0	289.0					7																	100677278		2203	4300	6503	100463998	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.2581A>G	7.37:g.100677278A>G	ENSP00000302716:p.Ser861Gly		100463998	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.041	-1.283412	0.01398	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	1.14	-2.29	0.06805	.	.	.	.	.	T	0.01222	0.0040	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45101	-0.9284	9	0.18710	T	0.47	.	4.631	0.12502	0.3832:0.179:0.4378:0.0	.	861	Q685J3	MUC17_HUMAN	G	861	ENSP00000302716:S861G	ENSP00000302716:S861G	S	+	1	0	MUC17	100463998	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.628000	0.05515	-2.401000	0.00578	-1.281000	0.01382	AGT		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
FOXP2	93986	hgsc.bcm.edu	37	7	114268710	114268710	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:114268710A>G	ENST00000393494.2	+	4	653	c.374A>G	c.(373-375)cAg>cGg	p.Q125R	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Missense_Mutation_p.Q150R|FOXP2_ENST00000393489.3_Missense_Mutation_p.Q33R|FOXP2_ENST00000350908.4_Missense_Mutation_p.Q125R|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000390668.3_Missense_Mutation_p.Q149R|FOXP2_ENST00000378237.3_Missense_Mutation_p.Q125R|FOXP2_ENST00000360232.4_Missense_Mutation_p.Q125R|FOXP2_ENST00000393498.2_Missense_Mutation_p.Q125R|FOXP2_ENST00000393491.3_Missense_Mutation_p.Q33R|FOXP2_ENST00000393500.3_Missense_Mutation_p.Q33R|FOXP2_ENST00000403559.4_Missense_Mutation_p.Q125R			O15409	FOXP2_HUMAN	forkhead box P2	125	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q150L(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTCCAACAACAGCAGGCTGTC	0.502																																																	1	Substitution - Missense(1)	lung(1)	7											206.0	164.0	178.0					7																	114268710		2203	4300	6503	114055946	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.374A>G	7.37:g.114268710A>G	ENSP00000377132:p.Gln125Arg		114055946	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.556279	0.65425	.	.	ENSG00000128573	ENST00000393500;ENST00000324462;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000452963;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;1.57;1.55;1.59;1.57;1.57;1.36;1.57;1.55;1.36	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.80183	2.485	0.80722	D	1	P;P;P;P;P;P;P;P	0.48294	0.851;0.851;0.851;0.908;0.908;0.851;0.908;0.908	P;P;P;P;D;P;D;P	0.64144	0.775;0.775;0.775;0.888;0.922;0.775;0.922;0.888	D	0.86314	0.1688	10	0.87932	D	0	.	16.0681	0.80903	1.0:0.0:0.0:0.0	.	125;125;33;125;149;125;150;150	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4;O15409-5	.;.;.;.;.;FOXP2_HUMAN;.;.	R	33;125;125;150;125;125;125;125;33;125;125;149;33	ENSP00000377137:Q33R;ENSP00000377132:Q125R;ENSP00000386200:Q150R;ENSP00000385069:Q125R;ENSP00000265436:Q125R;ENSP00000367482:Q125R;ENSP00000377129:Q33R;ENSP00000353367:Q125R;ENSP00000375084:Q149R;ENSP00000377130:Q33R	ENSP00000319424:Q125R	Q	+	2	0	FOXP2	114055946	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.188000	0.69820	0.528000	0.53228	CAG		0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	
CALD1	800	hgsc.bcm.edu	37	7	134613584	134613584	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:134613584C>T	ENST00000361675.2	+	4	380	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	CALD1_ENST00000422748.1_Missense_Mutation_p.R51W|CALD1_ENST00000417172.1_Missense_Mutation_p.R51W|CALD1_ENST00000424922.1_Missense_Mutation_p.R45W|CALD1_ENST00000393118.2_Missense_Mutation_p.R45W|CALD1_ENST00000543443.1_Missense_Mutation_p.R56W|CALD1_ENST00000495522.1_Missense_Mutation_p.R45W|CALD1_ENST00000361901.2_Missense_Mutation_p.R51W|CALD1_ENST00000361388.2_Missense_Mutation_p.R51W			Q05682	CALD1_HUMAN	caldesmon 1	51	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GGAACGGCTGCGGCAGAAGCA	0.577																																																	0			7											57.0	53.0	54.0					7																	134613584		2203	4300	6503	134264124	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.151C>T	7.37:g.134613584C>T	ENSP00000354826:p.Arg51Trp		134264124	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427199	0.62733	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000454108;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000435928;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.55	4.65	0.58169	.	0.169667	0.27362	N	0.019715	T	0.70988	0.3287	M	0.76328	2.33	0.38957	D	0.958474	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.994;0.997;0.994;0.994;0.994;0.994;0.999;0.997	T	0.76170	-0.3057	10	0.87932	D	0	-13.5091	12.6149	0.56571	0.3002:0.6998:0.0:0.0	.	56;51;45;45;51;51;51;51	F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;CALD1_HUMAN;.	W	51;51;51;51;51;51;51;65;51;45;45;45;56	ENSP00000398826:R51W;ENSP00000411476:R51W;ENSP00000355000:R51W;ENSP00000395710:R51W;ENSP00000401988:R51W;ENSP00000354826:R51W;ENSP00000354513:R51W;ENSP00000390926:R65W;ENSP00000416611:R51W;ENSP00000376826:R45W;ENSP00000393621:R45W;ENSP00000419673:R45W;ENSP00000445641:R56W	ENSP00000355000:R51W	R	+	1	2	CALD1	134264124	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.490000	0.35573	1.284000	0.44531	0.561000	0.74099	CGG		0.577	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
ZNF467	168544	hgsc.bcm.edu	37	7	149462747	149462747	+	Missense_Mutation	SNP	G	G	A	rs560346109		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:149462747G>A	ENST00000302017.3	-	5	1257	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCTTCTTGCGAAAGCGCTTC	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15086	0.0		0.0	False		,,,				2504	0.0																0			7											39.0	24.0	29.0					7																	149462747		2203	4300	6503	149093680	SO:0001583	missense	168544			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.844C>T	7.37:g.149462747G>A	ENSP00000304769:p.Arg282Cys		149093680		Missense_Mutation	SNP	ENST00000302017.3	37	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447502	0.63178	.	.	ENSG00000181444	ENST00000302017	T	0.08282	3.11	4.34	3.46	0.39613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33515	U	0.004836	T	0.16300	0.0392	L	0.39020	1.185	0.41829	D	0.990063	D	0.89917	1.0	D	0.75484	0.986	T	0.01252	-1.1405	10	0.54805	T	0.06	-26.804	8.0576	0.30614	0.088:0.0:0.755:0.157	.	282	Q7Z7K2	ZN467_HUMAN	C	282	ENSP00000304769:R282C	ENSP00000304769:R282C	R	-	1	0	ZNF467	149093680	0.040000	0.19996	0.997000	0.53966	0.991000	0.79684	0.147000	0.16202	0.798000	0.33994	0.462000	0.41574	CGC		0.627	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336	
TRIB3	57761	hgsc.bcm.edu	37	20	368896	368896	+	Missense_Mutation	SNP	G	G	A	rs143437909	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr20:368896G>A	ENST00000217233.3	+	2	795	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	TRIB3_ENST00000422053.2_Missense_Mutation_p.R108Q	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	81	Interaction with DDIT3/CHOP.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GAGGGCGGGCGGGCCTACCAG	0.667													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16649	0.0		0.0	False		,,,				2504	0.0				Melanoma(101;421 2374 19538)												0			20						G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	36.0	38.0	37.0		242	3.5	0.3	20	dbSNP_134	37	0,8598		0,0,4299	no	missense	TRIB3	NM_021158.3	43	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	benign	81/359	368896	4,13000	2203	4299	6502	316896	SO:0001583	missense	57761			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.242G>A	20.37:g.368896G>A	ENSP00000217233:p.Arg81Gln		316896	Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118704	0.20877	9.08E-4	0.0	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.20069	2.1;2.18;2.1	4.49	3.54	0.40534	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.592033	0.12998	N	0.421918	T	0.12561	0.0305	L	0.28344	0.845	0.09310	N	1	B;B	0.30511	0.084;0.282	B;B	0.18871	0.013;0.023	T	0.17349	-1.0372	10	0.38643	T	0.18	-10.6178	6.9455	0.24516	0.2054:0.0:0.7946:0.0	.	108;81	B4DMM9;Q96RU7	.;TRIB3_HUMAN	Q	81;81;108	ENSP00000217233:R81Q;ENSP00000391873:R81Q;ENSP00000415416:R108Q	ENSP00000217233:R81Q	R	+	2	0	TRIB3	316896	0.000000	0.05858	0.269000	0.24586	0.292000	0.27327	0.219000	0.17641	1.103000	0.41568	-0.291000	0.09656	CGG		0.667	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158	
TMC2	117532	hgsc.bcm.edu	37	20	2593939	2593939	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr20:2593939T>C	ENST00000358864.1	+	14	1858	c.1843T>C	c.(1843-1845)Tgc>Cgc	p.C615R	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	615					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATGAACTACTGCTGGTGCTG	0.483																																																	0			20											209.0	165.0	180.0					20																	2593939		2203	4300	6503	2541939	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1843T>C	20.37:g.2593939T>C	ENSP00000351732:p.Cys615Arg		2541939	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128400	0.77549	.	.	ENSG00000149488	ENST00000358864	T	0.68181	-0.31	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.62154	1.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.80750	-0.1243	10	0.72032	D	0.01	-20.9487	12.857	0.57890	0.0:0.0:0.0:1.0	.	446;447;615;615	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	R	615	ENSP00000351732:C615R	ENSP00000351732:C615R	C	+	1	0	TMC2	2541939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.783000	0.85696	1.992000	0.58205	0.533000	0.62120	TGC		0.483	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
CSRP2BP	57325	hgsc.bcm.edu	37	20	18143316	18143316	+	Silent	SNP	C	C	T	rs577238938		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr20:18143316C>T	ENST00000435364.3	+	6	1739	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	CSRP2BP_ENST00000489634.2_Silent_p.Y338Y|CSRP2BP_ENST00000377681.3_Silent_p.Y465Y	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	466					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TGAGCATCTACGAGGAAAAGC	0.517																																																	0			20											61.0	60.0	60.0					20																	18143316		2203	4300	6503	18091316	SO:0001819	synonymous_variant	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1398C>T	20.37:g.18143316C>T			18091316	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	ENST00000435364.3	37	CCDS13133.1																																																																																				0.517	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536	
XKR7	343702	hgsc.bcm.edu	37	20	30584381	30584381	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr20:30584381G>A	ENST00000562532.2	+	3	1035	c.861G>A	c.(859-861)tcG>tcA	p.S287S		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	287						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGCGGGACTCGCGGGACGACA	0.701																																																	0			20											28.0	28.0	28.0					20																	30584381		2203	4300	6503	30048042	SO:0001819	synonymous_variant	343702			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.861G>A	20.37:g.30584381G>A			30048042	Q9NUG5	Silent	SNP	ENST00000562532.2	37	CCDS33459.1																																																																																				0.701	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718	
SAMHD1	25939	hgsc.bcm.edu	37	20	35575190	35575190	+	Missense_Mutation	SNP	C	C	T	rs141599277		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr20:35575190C>T	ENST00000262878.4	-	2	425	c.226G>A	c.(226-228)Gca>Aca	p.A76T	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	76	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GGCAGTAATGCGCCTGTGATT	0.323																																																	0			20											79.0	77.0	77.0					20																	35575190		2203	4300	6503	35008604	SO:0001583	missense	25939			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.226G>A	20.37:g.35575190C>T	ENSP00000262878:p.Ala76Thr		35008604	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	1.881	-0.457856	0.04508	.	.	ENSG00000101347	ENST00000262878	T	0.43294	0.95	4.32	0.7	0.18099	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.957832	0.08632	N	0.916839	T	0.31389	0.0795	L	0.55834	1.745	0.23043	N	0.998383	B	0.15719	0.014	B	0.08055	0.003	T	0.29882	-0.9997	10	0.23302	T	0.38	-1.1196	1.6004	0.02672	0.5537:0.1818:0.0972:0.1673	.	76	Q9Y3Z3	SAMH1_HUMAN	T	76	ENSP00000262878:A76T	ENSP00000262878:A76T	A	-	1	0	SAMHD1	35008604	0.008000	0.16893	0.182000	0.23118	0.456000	0.32438	-0.002000	0.12924	0.003000	0.14656	-1.479000	0.00991	GCA		0.323	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474	
KIAA1755	85449	hgsc.bcm.edu	37	20	36869092	36869092	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr20:36869092G>T	ENST00000279024.4	-	3	1712	c.1441C>A	c.(1441-1443)Caa>Aaa	p.Q481K		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	481										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ACAGAGGGTTGCCTCTGCCCT	0.572																																																	0			20											78.0	81.0	80.0					20																	36869092		2203	4300	6503	36302506	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1441C>A	20.37:g.36869092G>T	ENSP00000279024:p.Gln481Lys		36302506	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.946534	0.00475	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.06068	3.35	4.85	2.83	0.33086	.	1.283900	0.05508	N	0.559640	T	0.07638	0.0192	L	0.60455	1.87	0.20926	N	0.999825	B	0.12013	0.005	B	0.09377	0.004	T	0.51498	-0.8698	10	0.06099	T	0.92	.	7.5989	0.28065	0.0:0.1902:0.6279:0.1819	.	481	Q5JYT7	K1755_HUMAN	K	481;28	ENSP00000279024:Q481K	ENSP00000279024:Q481K	Q	-	1	0	KIAA1755	36302506	0.004000	0.15560	0.560000	0.28344	0.058000	0.15608	1.323000	0.33701	0.600000	0.29862	-0.169000	0.13324	CAA		0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864	
NCOA3	8202	hgsc.bcm.edu	37	20	46279839	46279839	+	Silent	SNP	G	G	A	rs147879509|rs2664555|rs397778717|rs3830809		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr20:46279839G>A	ENST00000371998.3	+	20	3956	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q	NCOA3_ENST00000341724.6_Silent_p.Q1181Q|NCOA3_ENST00000372004.3_Silent_p.Q1251Q|NCOA3_ENST00000371997.3_Silent_p.Q1246Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1255	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1255delQ(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcaacagcagcagcagc	0.557																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	20											41.0	44.0	43.0					20																	46279839		2202	4300	6502	45713246	SO:0001819	synonymous_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3765G>A	20.37:g.46279839G>A			45713246	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.557	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
ZNF70	7621	hgsc.bcm.edu	37	22	24086478	24086478	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr22:24086478G>A	ENST00000341976.3	-	2	1310	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L284V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTCCCACAGAGATCGCACTCG	0.517																																																	1	Substitution - Missense(1)	ovary(1)	22											85.0	79.0	81.0					22																	24086478		2203	4300	6503	22416478	SO:0001583	missense	7621			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.850C>T	22.37:g.24086478G>A	ENSP00000339314:p.Leu284Phe		22416478		Missense_Mutation	SNP	ENST00000341976.3	37	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335442	0.41398	.	.	ENSG00000187792	ENST00000341976	T	0.09073	3.02	3.34	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.16722	0.016	T	0.29610	-1.0006	9	0.87932	D	0	-24.3909	6.037	0.19712	0.0:0.2126:0.5688:0.2185	.	284	Q9UC06	ZNF70_HUMAN	F	284	ENSP00000339314:L284F	ENSP00000339314:L284F	L	-	1	0	ZNF70	22416478	0.000000	0.05858	0.663000	0.29738	0.908000	0.53690	0.058000	0.14301	0.930000	0.37217	0.456000	0.33151	CTC		0.517	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916	
SEZ6L	23544	hgsc.bcm.edu	37	22	26743766	26743766	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr22:26743766G>A	ENST00000248933.6	+	11	2389	c.2294G>A	c.(2293-2295)cGg>cAg	p.R765Q	SEZ6L_ENST00000529632.2_Missense_Mutation_p.R765Q|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R765Q|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R765Q|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R765Q|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R538Q|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R538Q			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	765	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGTTGGTGCGGGGAGCCAGA	0.557																																																	0			22											82.0	78.0	79.0					22																	26743766		2203	4300	6503	25073766	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2294G>A	22.37:g.26743766G>A	ENSP00000248933:p.Arg765Gln		25073766	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525395	0.85600	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	4.88	2.8	0.32819	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000008	T	0.63189	0.2490	N	0.21508	0.67	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.998;0.998;0.999	T	0.58853	-0.7563	10	0.33940	T	0.23	.	10.1572	0.42829	0.1601:0.0:0.8399:0.0	.	765;765;538;765;765;765;765	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	Q	765;765;765;765;765;538;538	ENSP00000384772:R765Q;ENSP00000437037:R765Q;ENSP00000354185:R765Q;ENSP00000248933:R765Q;ENSP00000342661:R765Q;ENSP00000384838:R538Q;ENSP00000384733:R538Q	ENSP00000248933:R765Q	R	+	2	0	SEZ6L	25073766	1.000000	0.71417	0.404000	0.26397	0.967000	0.64934	7.266000	0.78452	0.668000	0.31126	0.655000	0.94253	CGG		0.557	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
DEPDC5	9681	hgsc.bcm.edu	37	22	32162610	32162610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr22:32162610C>T	ENST00000382112.3	+	5	389	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	DEPDC5_ENST00000400242.3_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.Q107*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.Q107*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	107					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.Q107*(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTTTAAGGATCAGTATATTGG	0.353																																																	1	Substitution - Nonsense(1)	ovary(1)	22											196.0	205.0	202.0					22																	32162610		2155	4273	6428	30492610	SO:0001587	stop_gained	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.319C>T	22.37:g.32162610C>T	ENSP00000371546:p.Gln107*		30492610	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	36	5.633922	0.96682	.	.	ENSG00000100150	ENST00000535622;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.42	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9192	0.63921	0.0:0.8466:0.1534:0.0	.	.	.	.	X	107	.	ENSP00000266091:Q107X	Q	+	1	0	DEPDC5	30492610	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	7.058000	0.76676	1.266000	0.44231	0.655000	0.94253	CAG		0.353	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
PKDREJ	10343	hgsc.bcm.edu	37	22	46654129	46654129	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr22:46654129G>A	ENST00000253255.5	-	1	5090	c.5091C>T	c.(5089-5091)ttC>ttT	p.F1697F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1697					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.F1697F(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTTTCTTTTGAATATTCTGA	0.418																																																	1	Substitution - coding silent(1)	ovary(1)	22											192.0	156.0	168.0					22																	46654129		2203	4300	6503	45032793	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5091C>T	22.37:g.46654129G>A			45032793	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																				0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
TUBGCP6	85378	hgsc.bcm.edu	37	22	50662947	50662947	+	Silent	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr22:50662947T>C	ENST00000248846.5	-	11	2162	c.2058A>G	c.(2056-2058)gcA>gcG	p.A686A	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Silent_p.A686A			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	686					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCACTCAGTGCACTCAGGA	0.537																																																	0			22											106.0	116.0	113.0					22																	50662947		2203	4300	6503	49005074	SO:0001819	synonymous_variant	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2058A>G	22.37:g.50662947T>C			49005074	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	CCDS14087.1																																																																																				0.537	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461	
NOVA1	4857	hgsc.bcm.edu	37	14	27064655	27064655	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr14:27064655C>A	ENST00000344429.5	-	2	244	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000539517.2_Missense_Mutation_p.A81S|NOVA1_ENST00000465357.2_Missense_Mutation_p.A81S|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000547619.1_Missense_Mutation_p.A81S|NOVA1_ENST00000574031.1_Missense_Mutation_p.A81S|NOVA1_ENST00000267422.7_5'UTR|NOVA1-AS1_ENST00000547786.1_RNA	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	81	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTGATGGTGGCTCCAGTTTCT	0.428																																																	0			14											169.0	159.0	163.0					14																	27064655		2203	4300	6503	26134495	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.241G>T	14.37:g.27064655C>A	ENSP00000342387:p.Ala81Ser		26134495	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000344429.5	37	CCDS9635.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895610	0.72639	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000449198;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	4.86	3.96	0.45880	.	0.469026	0.18861	N	0.129132	T	0.54095	0.1837	L	0.56396	1.775	0.80722	D	1	D;B;B	0.62365	0.991;0.041;0.033	D;B;B	0.63597	0.916;0.022;0.013	T	0.57923	-0.7727	10	0.72032	D	0.01	-1.8263	14.8854	0.70564	0.1446:0.8554:0.0:0.0	.	81;81;81	P51513-2;D3DS81;P51513-4	.;.;.	S	81;81;40;44;81;81	ENSP00000447391:A81S;ENSP00000438875:A81S;ENSP00000408914:A40S;ENSP00000449185:A44S;ENSP00000342387:A81S;ENSP00000448157:A81S	ENSP00000342387:A81S	A	-	1	0	NOVA1	26134495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	1.169000	0.42739	0.561000	0.74099	GCC		0.428	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491	
MIA2	117153	hgsc.bcm.edu	37	14	39722337	39722337	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr14:39722337A>G	ENST00000280082.3	+	6	2048	c.1849A>G	c.(1849-1851)Aat>Gat	p.N617D	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.N544D	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGATTTCATGAATTCTGCATT	0.274																																																	0			14											78.0	85.0	83.0					14																	39722337		2201	4291	6492	38792088	SO:0001583	missense	117153			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1849A>G	14.37:g.39722337A>G	ENSP00000280082:p.Asn617Asp		38792088	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336854	0.41398	.	.	ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000553728	T;T	0.52983	0.64;3.14	5.09	3.94	0.45596	.	1.370910	0.05175	N	0.500184	T	0.35856	0.0946	.	.	.	0.39364	D	0.965979	B	0.09022	0.002	B	0.12156	0.007	T	0.05733	-1.0867	8	.	.	.	.	8.5466	0.33426	0.91:0.0:0.09:0.0	.	617	Q96PC5-2	.	D	617;544	ENSP00000280082:N617D;ENSP00000452252:N544D	.	N	+	1	0	MIA2;RP11-407N17.3	38792088	0.184000	0.23200	0.944000	0.38274	0.843000	0.47879	1.565000	0.36386	0.889000	0.36185	0.477000	0.44152	AAT		0.274	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	
SIPA1L1	26037	hgsc.bcm.edu	37	14	72055681	72055681	+	Silent	SNP	C	C	T	rs144648264	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr14:72055681C>T	ENST00000555818.1	+	2	1440	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	SIPA1L1_ENST00000381232.3_Silent_p.S364S|SIPA1L1_ENST00000358550.2_Silent_p.S364S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	364					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTGGAGCTTCCGCAGCTGCCG	0.478													C|||	6	0.00119808	0.0	0.0014	5008	,	,		19320	0.0		0.005	False		,,,				2504	0.0																0			14						C		1,4405	2.1+/-5.4	0,1,2202	57.0	60.0	59.0		1092	-2.3	0.7	14	dbSNP_134	59	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	SIPA1L1	NM_015556.1		0,13,6490	TT,TC,CC		0.1395,0.0227,0.1		364/1805	72055681	13,12993	2203	4300	6503	71125434	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1092C>T	14.37:g.72055681C>T			71125434	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
GSTZ1	2954	hgsc.bcm.edu	37	14	77797491	77797491	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr14:77797491T>C	ENST00000556627.1	+	8	654	c.523T>C	c.(523-525)Tct>Cct	p.S175P	GSTZ1_ENST00000361389.4_Missense_Mutation_p.S147P|GSTZ1_ENST00000393734.1_Missense_Mutation_p.S147P|GSTZ1_ENST00000349555.3_Missense_Mutation_p.S160P|GSTZ1_ENST00000557053.1_Missense_Mutation_p.S105P|GSTZ1_ENST00000554279.1_Missense_Mutation_p.S188P|GSTZ1_ENST00000216465.5_Missense_Mutation_p.S202P|GSTZ1_ENST00000557639.1_Missense_Mutation_p.S147P|GSTZ1_ENST00000553586.1_Missense_Mutation_p.S203P			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	202	GST C-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	CTTCCAGGTGTCTCACCCCTG	0.597																																																	0			14											74.0	66.0	68.0					14																	77797491		2203	4300	6503	76867244	SO:0001583	missense	2954			U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"""Glutathione S-transferases / Soluble"""	4643	protein-coding gene	gene with protein product	"""maleylacetoacetate isomerase"""	603758	"""glutathione transferase zeta 1"""			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.523T>C	14.37:g.77797491T>C	ENSP00000450487:p.Ser175Pro		76867244	A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Missense_Mutation	SNP	ENST00000556627.1	37		.	.	.	.	.	.	.	.	.	.	T	17.24	3.339081	0.60963	.	.	ENSG00000100577	ENST00000216465;ENST00000361389;ENST00000554279;ENST00000557639;ENST00000349555;ENST00000556627;ENST00000557053;ENST00000393734;ENST00000553586	T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.48	-0.259	0.12971	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.312207	0.41605	D	0.000853	T	0.48370	0.1496	M	0.81802	2.56	0.49687	D	0.999814	P;P	0.49635	0.865;0.926	P;P	0.47015	0.52;0.534	T	0.56438	-0.7979	10	0.87932	D	0	1.2504	11.6251	0.51139	0.6426:0.0:0.0:0.3574	.	160;202	A6NED0;O43708	.;MAAI_HUMAN	P	202;147;188;147;160;175;105;147;203	ENSP00000216465:S202P;ENSP00000354959:S147P;ENSP00000452498:S188P;ENSP00000451927:S147P;ENSP00000314404:S160P;ENSP00000450487:S175P;ENSP00000451150:S105P;ENSP00000377335:S147P;ENSP00000451976:S203P	ENSP00000216465:S202P	S	+	1	0	GSTZ1	76867244	1.000000	0.71417	0.992000	0.48379	0.865000	0.49528	2.185000	0.42584	-0.244000	0.09639	-1.966000	0.00469	TCT		0.597	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000414090.1	NM_145870	
GNA15	2769	hgsc.bcm.edu	37	19	3150215	3150215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:3150215G>A	ENST00000262958.3	+	3	675	c.417G>A	c.(415-417)tgG>tgA	p.W139*	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	139					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGTGGCTGTGGAGGGATGCCG	0.632																																																	0			19											74.0	76.0	75.0					19																	3150215		2203	4299	6502	3101215	SO:0001587	stop_gained	2769				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.417G>A	19.37:g.3150215G>A	ENSP00000262958:p.Trp139*		3101215	E9KL40|E9KL47|O75247|Q53XK2	Nonsense_Mutation	SNP	ENST00000262958.3	37	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380957	0.95945	.	.	ENSG00000060558	ENST00000262958	.	.	.	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.363	0.44006	0.0:0.0:1.0:0.0	.	.	.	.	X	139	.	ENSP00000262958:W139X	W	+	3	0	GNA15	3101215	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	5.391000	0.66266	1.786000	0.52430	0.313000	0.20887	TGG		0.632	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068	
FBN3	84467	hgsc.bcm.edu	37	19	8209823	8209823	+	Missense_Mutation	SNP	C	C	T	rs554641249		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:8209823C>T	ENST00000600128.1	-	6	893	c.479G>A	c.(478-480)cGc>cAc	p.R160H	FBN3_ENST00000270509.2_Missense_Mutation_p.R160H|FBN3_ENST00000601739.1_Missense_Mutation_p.R160H			Q75N90	FBN3_HUMAN	fibrillin 3	160	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCAATGCAGCGACCCCCATT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		16220	0.001		0.0	False		,,,				2504	0.0																0			19											47.0	36.0	40.0					19																	8209823		2201	4300	6501	8115823	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.479G>A	19.37:g.8209823C>T	ENSP00000470498:p.Arg160His		8115823	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.058579	0.55325	.	.	ENSG00000142449	ENST00000270509	D	0.88201	-2.35	3.94	3.94	0.45596	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000001	D	0.86678	0.5990	M	0.65975	2.015	0.41587	D	0.98877	B	0.29432	0.244	B	0.21151	0.033	D	0.86693	0.1924	10	0.49607	T	0.09	.	14.905	0.70711	0.0:1.0:0.0:0.0	.	160	Q75N90	FBN3_HUMAN	H	160	ENSP00000270509:R160H	ENSP00000270509:R160H	R	-	2	0	FBN3	8115823	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	4.237000	0.58681	1.934000	0.56057	0.313000	0.20887	CGC		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
MUC16	94025	hgsc.bcm.edu	37	19	9059278	9059278	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:9059278C>T	ENST00000397910.4	-	3	28371	c.28168G>A	c.(28168-28170)Gcc>Acc	p.A9390T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9392	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCAGGAGGCTGTGCTTGAT	0.527																																																	0			19											132.0	130.0	131.0					19																	9059278		2011	4173	6184	8920278	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28168G>A	19.37:g.9059278C>T	ENSP00000381008:p.Ala9390Thr		8920278	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.664	0.685513	0.14973	.	.	ENSG00000181143	ENST00000397910	T	0.23348	1.91	2.1	0.98	0.19750	.	.	.	.	.	T	0.16896	0.0406	L	0.29908	0.895	.	.	.	B	0.27823	0.19	B	0.28139	0.086	T	0.20874	-1.0262	8	0.87932	D	0	.	5.0379	0.14443	0.0:0.8162:0.0:0.1838	.	9390	B5ME49	.	T	9390	ENSP00000381008:A9390T	ENSP00000381008:A9390T	A	-	1	0	MUC16	8920278	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.748000	0.04818	0.423000	0.26033	0.306000	0.20318	GCC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
JAK3	3718	hgsc.bcm.edu	37	19	17945506	17945506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:17945506G>A	ENST00000527670.1	-	16	2253	c.2224C>T	c.(2224-2226)Cag>Tag	p.Q742*	JAK3_ENST00000534444.1_Nonsense_Mutation_p.Q742*|JAK3_ENST00000458235.1_Nonsense_Mutation_p.Q742*			P52333	JAK3_HUMAN	Janus kinase 3	742	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGCAGCTGCTGCCGGTCCTCA	0.587		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0			19											48.0	59.0	55.0					19																	17945506		2203	4300	6503	17806506	SO:0001587	stop_gained	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2224C>T	19.37:g.17945506G>A	ENSP00000432511:p.Gln742*		17806506	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Nonsense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	38	7.271270	0.98179	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	.	.	.	4.8	2.5	0.30297	.	0.657301	0.15520	N	0.258075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-6.3658	7.8871	0.29656	0.0:0.3502:0.482:0.1678	.	.	.	.	X	742	.	ENSP00000391676:Q742X	Q	-	1	0	JAK3	17806506	0.395000	0.25254	0.253000	0.24343	0.882000	0.50991	3.403000	0.52615	0.365000	0.24400	0.484000	0.47621	CAG		0.587	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
ZNF529	57711	hgsc.bcm.edu	37	19	37038372	37038372	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:37038372T>C	ENST00000591340.1	-	5	1246	c.1088A>G	c.(1087-1089)gAg>gGg	p.E363G	ZNF529_ENST00000334116.7_Missense_Mutation_p.E258G	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					ATAAGGTTTCTCACCAGTGTG	0.393																																																	0			19											58.0	64.0	62.0					19																	37038372		2196	4297	6493	41730212	SO:0001583	missense	57711			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.1088A>G	19.37:g.37038372T>C	ENSP00000465578:p.Glu363Gly		41730212	K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521512	0.64747	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.19	3.19	0.36642	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62245	0.2412	L	0.58669	1.825	0.30688	N	0.751634	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.62412	-0.6860	8	0.87932	D	0	.	10.5474	0.45068	0.0:0.0:0.0:1.0	.	258;330	Q6P280-2;Q6P280	.;ZN529_HUMAN	G	363	.	ENSP00000334695:E363G	E	-	2	0	ZNF529	41730212	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.442000	0.52900	1.312000	0.45043	0.482000	0.46254	GAG		0.393	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951	
ARHGEF1	9138	hgsc.bcm.edu	37	19	42398314	42398314	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:42398314C>T	ENST00000354532.3	+	9	827	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R209C|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R194C|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R242C|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R227C	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	227	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCTGTACATGCGCCACCTTGG	0.567																																																	0			19											104.0	66.0	79.0					19																	42398314		2203	4299	6502	47090154	SO:0001583	missense	9138			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.679C>T	19.37:g.42398314C>T	ENSP00000346532:p.Arg227Cys		47090154	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613138	0.66672	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	3.89	3.89	0.44902	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.130576	0.46758	D	0.000267	D	0.86276	0.5894	L	0.36672	1.1	0.47183	D	0.999349	D;D;D;D;D	0.89917	0.992;0.988;0.963;0.984;1.0	P;P;B;P;D	0.67103	0.729;0.471;0.431;0.511;0.949	D	0.86586	0.1857	10	0.87932	D	0	-20.0193	9.1847	0.37163	0.2172:0.7828:0.0:0.0	.	209;242;194;227;287	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	C	227;194;263;242;209	ENSP00000346532:R227C;ENSP00000344429:R194C;ENSP00000337261:R242C;ENSP00000367394:R209C	ENSP00000323044:R263C	R	+	1	0	ARHGEF1	47090154	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.964000	0.49192	2.201000	0.70794	0.484000	0.47621	CGC		0.567	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002	
PSG11	5680	hgsc.bcm.edu	37	19	43529004	43529004	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:43529004A>G	ENST00000401740.1	-	2	372	c.269T>C	c.(268-270)aTa>aCa	p.I90T	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.I90T|PSG11_ENST00000403486.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	90	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CGGTCCATATATAATTATTTG	0.448																																																	0			19											207.0	199.0	202.0					19																	43529004		2199	4298	6497	48220844	SO:0001583	missense	5680			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.269T>C	19.37:g.43529004A>G	ENSP00000384995:p.Ile90Thr		48220844	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.962015	0.00002	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.63255	-0.03;-0.03	0.929	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39253	0.1071	L	0.31120	0.905	0.09310	N	1	B	0.20368	0.044	B	0.24006	0.05	T	0.31779	-0.9931	9	0.07175	T	0.84	.	2.9487	0.05854	0.2272:0.0:0.4317:0.3411	.	90	Q9UQ72	PSG11_HUMAN	T	90	ENSP00000319140:I90T;ENSP00000384995:I90T	ENSP00000319140:I90T	I	-	2	0	PSG11	48220844	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.271000	0.02828	-2.960000	0.00290	-1.412000	0.01120	ATA		0.448	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785	
NUCB1	4924	hgsc.bcm.edu	37	19	49409126	49409126	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:49409126C>T	ENST00000405315.4	+	4	694	c.360C>T	c.(358-360)gaC>gaT	p.D120D	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Silent_p.D120D|NUCB1_ENST00000263273.5_Silent_p.D120D	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	120						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCAAGATGGACGCCGAGCAGG	0.657																																																	0			19											31.0	29.0	29.0					19																	49409126		2203	4300	6503	54100938	SO:0001819	synonymous_variant	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.360C>T	19.37:g.49409126C>T			54100938	B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	37	CCDS12740.1																																																																																				0.657	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184	
LILRB3	11025	hgsc.bcm.edu	37	19	54724541	54724541	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:54724541T>C	ENST00000391750.1	-	7	1251	c.1115A>G	c.(1114-1116)tAc>tGc	p.Y372C	LILRB3_ENST00000424807.1_Missense_Mutation_p.Y372C|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Missense_Mutation_p.Y372C|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Missense_Mutation_p.Y372C|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Missense_Mutation_p.Y372C|LILRB3_ENST00000245620.9_Missense_Mutation_p.Y372C|LILRB3_ENST00000346401.6_Missense_Mutation_p.Y372C			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	372	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGAGCTCCGTACATTGATCT	0.567																																																	0			19											72.0	53.0	59.0					19																	54724541		2199	4190	6389	59416353	SO:0001583	missense	79168			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1115A>G	19.37:g.54724541T>C	ENSP00000375630:p.Tyr372Cys		59416353	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	T	9.448	1.089820	0.20390	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464	T;T;T;T;T;T;T	0.03124	4.04;4.04;4.04;4.04;4.04;4.04;4.04	2.7	-4.21	0.03812	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.532280	0.01726	N	0.028563	T	0.12092	0.0294	M	0.76002	2.32	0.09310	N	0.999997	P;D;P;D;D;D	0.71674	0.951;0.998;0.867;0.996;0.992;0.998	D;D;P;D;D;P	0.69479	0.926;0.927;0.535;0.94;0.964;0.818	T	0.41052	-0.9530	10	0.42905	T	0.14	.	0.6038	0.00749	0.331:0.1267:0.3112:0.2311	.	372;372;372;372;372;372	B5MCX0;F8WCY4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;LIRB3_HUMAN;.	C	372	ENSP00000375630:Y372C;ENSP00000412771:Y372C;ENSP00000345184:Y372C;ENSP00000245620:Y372C;ENSP00000384274:Y372C;ENSP00000390120:Y372C;ENSP00000270464:Y372C	ENSP00000270464:Y372C	Y	-	2	0	LILRB3;LILRA6	59416353	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.780000	0.00773	-1.130000	0.02914	0.397000	0.26171	TAC		0.567	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	
LILRA2	11027	hgsc.bcm.edu	37	19	55086381	55086381	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:55086381T>C	ENST00000251377.3	+	5	669	c.536T>C	c.(535-537)aTc>aCc	p.I179T	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.I179T|LILRA2_ENST00000391738.3_Missense_Mutation_p.I179T|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.I167T			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	179	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCCTGGGCCATCTTCTCCGTG	0.567																																																	0			19											161.0	150.0	154.0					19																	55086381		2203	4300	6503	59778193	SO:0001583	missense	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.536T>C	19.37:g.55086381T>C	ENSP00000251377:p.Ile179Thr		59778193	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.714193	0.30413	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34	2.93	-1.36	0.09085	Immunoglobulin-like fold (1);	0.746744	0.11359	N	0.572090	T	0.02610	0.0079	L	0.27053	0.805	0.09310	N	1	B;B;B;P	0.40431	0.0;0.122;0.013;0.717	B;P;B;P	0.46796	0.026;0.455;0.032;0.527	T	0.40098	-0.9581	9	.	.	.	.	0.4469	0.00495	0.2127:0.1394:0.2172:0.4307	.	179;167;179;179	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	T	179;179;179;179;167	ENSP00000388131:I179T;ENSP00000251377:I179T;ENSP00000375618:I179T;ENSP00000251376:I179T;ENSP00000375617:I167T	.	I	+	2	0	LILRA2	59778193	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.077000	0.11394	-0.093000	0.12396	0.416000	0.27883	ATC		0.567	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		
KIR3DL1	3811	hgsc.bcm.edu	37	19	55284980	55284980	+	Intron	SNP	G	G	A	rs543746914		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:55284980G>A	ENST00000538269.1	+	2	61				KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.R89H|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89H|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.R89H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCCATCAGTCGCATGACGCAA	0.537													.|||	1	0.000199681	0.0	0.0	5008	,	,		18723	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	prostate(1)	19											254.0	223.0	233.0					19																	55284980		2178	4210	6388	59976792	SO:0001627	intron_variant	3802			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44009G>A	19.37:g.55284980G>A			59976792	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37		.	.	.	.	.	.	.	.	.	.	a	7.047	0.563636	0.13498	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.23147	1.92;1.92	1.24	0.114	0.14639	.	.	.	.	.	T	0.12263	0.0298	N	0.11756	0.17	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.25187	-1.0139	9	0.66056	D	0.02	.	3.5284	0.07768	0.2873:0.4304:0.2823:0.0	.	89;89	Q6IST4;Q6H2H3	.;.	H	89	ENSP00000336769:R89H;ENSP00000291633:R89H	ENSP00000291633:R89H	R	+	2	0	KIR2DL1	59976792	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.081000	0.14823	-0.274000	0.09232	-2.943000	0.00086	CGC		0.537	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289	
PTPRH	5794	hgsc.bcm.edu	37	19	55693158	55693158	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:55693158G>A	ENST00000376350.3	-	20	3334	c.3312C>T	c.(3310-3312)aaC>aaT	p.N1104N	SYT5_ENST00000354308.3_5'Flank|PTPRH_ENST00000263434.5_Silent_p.N926N|SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000590851.1_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1104					apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGGCGGCCACGTTCTCGTAGA	0.607																																																	0			19											137.0	129.0	132.0					19																	55693158		2203	4300	6503	60384970	SO:0001819	synonymous_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3312C>T	19.37:g.55693158G>A			60384970	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	CCDS33110.1																																																																																				0.607	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
DOCK5	80005	hgsc.bcm.edu	37	8	25246747	25246747	+	Splice_Site	SNP	G	G	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr8:25246747G>T	ENST00000276440.7	+	41	4316	c.4272G>T	c.(4270-4272)caG>caT	p.Q1424H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1424	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCCCCAAGCAGTGTATCCTTT	0.567																																					Pancreas(145;34 1887 3271 10937 30165)												0			8											102.0	92.0	96.0					8																	25246747		2203	4300	6503	25302664	SO:0001630	splice_region_variant	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4273+1G>T	8.37:g.25246747G>T			25302664	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209291	0.39003	.	.	ENSG00000147459	ENST00000276440	T	0.06933	3.24	5.21	3.42	0.39159	.	0.346217	0.30602	N	0.009275	T	0.32194	0.0821	M	0.91510	3.215	0.58432	D	0.999994	D;P;D	0.76494	0.999;0.95;0.981	D;P;P	0.74023	0.982;0.64;0.741	T	0.09357	-1.0678	10	0.87932	D	0	.	8.9265	0.35643	0.2261:0.0:0.7739:0.0	.	213;1414;1424	Q6ZP32;D3DSS6;Q9H7D0	.;.;DOCK5_HUMAN	H	1424	ENSP00000276440:Q1424H	ENSP00000276440:Q1424H	Q	+	3	2	DOCK5	25302664	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	3.550000	0.53691	0.699000	0.31761	-0.266000	0.10368	CAG		0.567	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Missense_Mutation
ADAM18	8749	hgsc.bcm.edu	37	8	39468230	39468230	+	Intron	SNP	C	C	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr8:39468230C>A	ENST00000265707.5	+	6	567				ADAM18_ENST00000379866.1_Intron|ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000520772.1_Missense_Mutation_p.T176N	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCACAGGTGACTGTCATCATT	0.328																																																	0			8											48.0	47.0	47.0					8																	39468230		2202	4295	6497	39587387	SO:0001627	intron_variant	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.522+5C>A	8.37:g.39468230C>A			39587387	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.847311	0.00568	.	.	ENSG00000168619	ENST00000520772	T	0.12361	2.69	4.92	2.99	0.34606	.	.	.	.	.	T	0.07234	0.0183	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.22591	-1.0212	8	0.15066	T	0.55	.	6.1241	0.20170	0.0:0.7081:0.1914:0.1006	.	176	Q6IRW9	.	N	176	ENSP00000429908:T176N	ENSP00000429908:T176N	T	+	2	0	ADAM18	39587387	0.253000	0.23982	0.932000	0.37286	0.056000	0.15407	0.020000	0.13466	1.437000	0.47472	0.655000	0.94253	ACT		0.328	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
IDO1	3620	hgsc.bcm.edu	37	8	39780140	39780140	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr8:39780140G>A	ENST00000518237.1	+	6	1146	c.507G>A	c.(505-507)ttG>ttA	p.L169L	RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.L169L	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	169					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	TCTCTCTATTGGTGGAAATAG	0.408																																																	0			8											153.0	140.0	144.0					8																	39780140		1863	4115	5978	39899297	SO:0001819	synonymous_variant	3620			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.507G>A	8.37:g.39780140G>A			39899297	Q540B4	Silent	SNP	ENST00000518237.1	37	CCDS47847.1																																																																																				0.408	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	
CYP7B1	9420	hgsc.bcm.edu	37	8	65509289	65509289	+	Silent	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr8:65509289A>G	ENST00000310193.3	-	6	1604	c.1431T>C	c.(1429-1431)gaT>gaC	p.D477D	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	477					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CTATGGGCTTATCATCAATTA	0.323																																																	0			8											50.0	53.0	52.0					8																	65509289		2201	4300	6501	65671843	SO:0001819	synonymous_variant	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1431T>C	8.37:g.65509289A>G			65671843	B2RN07|Q9UNF5	Silent	SNP	ENST00000310193.3	37	CCDS6180.1																																																																																				0.323	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		
RPL7	6129	hgsc.bcm.edu	37	8	74204636	74204636	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr8:74204636C>T	ENST00000352983.2	-	3	413	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	RPL7_ENST00000396465.1_Missense_Mutation_p.R3Q|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396467.1_Missense_Mutation_p.R3Q|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396466.1_Missense_Mutation_p.R3Q			P18124	RL7_HUMAN	ribosomal protein L7	43	4 X 12 AA tandem repeats.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CCTTGCCTTTCGAAGCTGAAA	0.343																																																	0			8											36.0	40.0	39.0					8																	74204636		2181	4277	6458	74367190	SO:0001583	missense	6129			L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.128G>A	8.37:g.74204636C>T	ENSP00000339795:p.Arg43Gln		74367190	A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616888	0.46736	.	.	ENSG00000147604	ENST00000396467;ENST00000352983;ENST00000396466;ENST00000396465;ENST00000435330;ENST00000431653	.	.	.	4.5	4.5	0.54988	Ribosomal protein L30, N-terminal (1);	0.078538	0.52532	U	0.000069	T	0.41190	0.1148	N	0.13140	0.3	0.48288	D	0.999621	B	0.24483	0.104	B	0.19391	0.025	T	0.24261	-1.0165	9	0.22706	T	0.39	.	17.4563	0.87608	0.0:1.0:0.0:0.0	.	43	P18124	RL7_HUMAN	Q	3;43;3;3;3;3	.	ENSP00000339795:R43Q	R	-	2	0	RPL7	74367190	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.435000	0.52849	2.332000	0.79248	0.586000	0.80456	CGA		0.343	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971	
SYBU	55638	hgsc.bcm.edu	37	8	110587791	110587793	+	Missense_Mutation	TNP	CTA	CTA	TAT			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C|T|A	C|T|A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr8:110587791_110587793CTA>TAT	ENST00000422135.1	-	8	1849_1851	c.1334_1336TAG>ATA	c.(1333-1338)aTAGtg>aATAtg	p.445_446IV>NM	SYBU_ENST00000408889.3_Missense_Mutation_p.326_327IV>NM|SYBU_ENST00000533065.1_Missense_Mutation_p.326_327IV>NM|SYBU_ENST00000532779.1_Missense_Mutation_p.377_378IV>NM|SYBU_ENST00000276646.9_Missense_Mutation_p.445_446IV>NM|SYBU_ENST00000528331.1_Missense_Mutation_p.326_327IV>NM|SYBU_ENST00000533895.1_Missense_Mutation_p.444_445IV>NM|SYBU_ENST00000446070.2_Missense_Mutation_p.444_445IV>NM|SYBU_ENST00000529690.1_Missense_Mutation_p.315_316IV>NM|SYBU_ENST00000433638.1_Missense_Mutation_p.445_446IV>NM|SYBU_ENST00000528647.1_Missense_Mutation_p.444_445IV>NM|SYBU_ENST00000533171.1_Missense_Mutation_p.445_446IV>NM|SYBU_ENST00000408908.2_Missense_Mutation_p.445_446IV>NM|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000440310.1_Missense_Mutation_p.445_446IV>NM|SYBU_ENST00000399066.3_Missense_Mutation_p.442_443IV>NM|SYBU_ENST00000424158.2_Missense_Mutation_p.450_451IV>NM|SYBU_ENST00000529175.1_Missense_Mutation_p.239_240IV>NM|SYBU_ENST00000419099.1_Missense_Mutation_p.444_445IV>NM	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	445					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GTGGCTGTCACTATCTCATCGAA	0.557																																																	0			8																																								110656967|110656968|110656969	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1334_1336TAG>ATA	8.37:g.110587791CTA>TAT	ENSP00000407118:p.I445_V446delinsNM		110656967|110656968|110656969	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation|Silent|Missense_Mutation	SNP	ENST00000422135.1	37	CCDS47912.1																																																																																				0.557	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786	
EPPK1	83481	hgsc.bcm.edu	37	8	144943713	144943713	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr8:144943713C>G	ENST00000525985.1	-	2	3780	c.3709G>C	c.(3709-3711)Gcg>Ccg	p.A1237P				P58107	EPIPL_HUMAN	epiplakin 1	1237						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTTCACCGCCGGCTGCTCG	0.706																																																	0			8											5.0	6.0	6.0					8																	144943713		1875	3956	5831	145015701	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3709G>C	8.37:g.144943713C>G	ENSP00000436337:p.Ala1237Pro		145015701	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	11.83	1.755995	0.31137	.	.	ENSG00000227184	ENST00000525985	T	0.70045	-0.45	4.4	0.512	0.16994	.	.	.	.	.	T	0.35653	0.0939	N	0.08118	0	0.09310	N	1	P	0.44578	0.838	B	0.35550	0.205	T	0.18745	-1.0327	9	0.30078	T	0.28	.	3.8512	0.08955	0.1593:0.4795:0.0:0.3613	.	1237	E9PPU0	.	P	1237	ENSP00000436337:A1237P	ENSP00000436337:A1237P	A	-	1	0	EPPK1	145015701	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.258000	0.08733	-0.099000	0.12263	0.462000	0.41574	GCG		0.706	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
KLHDC7A	127707	hgsc.bcm.edu	37	1	18807550	18807550	+	Silent	SNP	C	C	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:18807550C>A	ENST00000400664.1	+	1	127	c.75C>A	c.(73-75)gcC>gcA	p.A25A		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	25						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGTCAGCCGCTGCCCTGC	0.642																																																	0			1											40.0	46.0	44.0					1																	18807550		2062	4216	6278	18680137	SO:0001819	synonymous_variant	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.75C>A	1.37:g.18807550C>A			18680137	Q8N8W6	Silent	SNP	ENST00000400664.1	37	CCDS185.2																																																																																				0.642	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375	
HPCA	3208	hgsc.bcm.edu	37	1	33354678	33354678	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:33354678A>G	ENST00000373467.3	+	2	281	c.179A>G	c.(178-180)gAc>gGc	p.D60G	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	60	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCCTATGGTGACGCCTCCAAG	0.537																																																	0			1											122.0	107.0	112.0					1																	33354678		2203	4300	6503	33127265	SO:0001583	missense	3208			BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"""EF-hand domain containing"""	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.179A>G	1.37:g.33354678A>G	ENSP00000362566:p.Asp60Gly		33127265	B2R9T3|D3DPQ7|P32076|P41211|P70510	Missense_Mutation	SNP	ENST00000373467.3	37	CCDS370.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376287	0.82682	.	.	ENSG00000121905	ENST00000373467	T	0.30714	1.52	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.91872	3.25	0.80722	D	1	D	0.60575	0.988	P	0.60949	0.881	T	0.70490	-0.4857	10	0.87932	D	0	.	14.3821	0.66919	1.0:0.0:0.0:0.0	.	60	P84074	HPCA_HUMAN	G	60	ENSP00000362566:D60G	ENSP00000362566:D60G	D	+	2	0	HPCA	33127265	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.053000	0.93860	2.333000	0.79357	0.533000	0.62120	GAC		0.537	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143	
HIVEP3	59269	hgsc.bcm.edu	37	1	42045588	42045588	+	Silent	SNP	G	G	A	rs138363884	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:42045588G>A	ENST00000372583.1	-	4	5766	c.4881C>T	c.(4879-4881)taC>taT	p.Y1627Y	HIVEP3_ENST00000429157.2_Silent_p.Y1627Y|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Silent_p.Y1627Y|HIVEP3_ENST00000247584.5_Silent_p.Y1627Y	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1627					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACCAACCAGCGTAAACAGAGG	0.473																																																	0			1						G	,	0,4406		0,0,2203	142.0	117.0	125.0		4881,4881	4.7	1.0	1	dbSNP_134	125	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	,	1627/2406,1627/2407	42045588	7,12999	2203	4300	6503	41818175	SO:0001819	synonymous_variant	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4881C>T	1.37:g.42045588G>A			41818175	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	CCDS463.1																																																																																				0.473	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
WDR78	79819	hgsc.bcm.edu	37	1	67359090	67359090	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:67359090C>A	ENST00000371026.3	-	3	407	c.352G>T	c.(352-354)Gac>Tac	p.D118Y	WDR78_ENST00000371023.3_Missense_Mutation_p.D118Y|WDR78_ENST00000371022.3_Missense_Mutation_p.D118Y|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	118					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCATTTATGTCAAATACCTGT	0.338																																																	0			1											111.0	107.0	109.0					1																	67359090		2203	4300	6503	67131678	SO:0001583	missense	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.352G>T	1.37:g.67359090C>A	ENSP00000360065:p.Asp118Tyr		67131678	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625795	0.46840	.	.	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	D;T;T	0.81659	-1.52;-0.07;-0.62	5.17	4.26	0.50523	.	0.047632	0.85682	D	0.000000	D	0.83764	0.5325	M	0.69823	2.125	0.42547	D	0.99309	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.971;0.974;0.974	D	0.85926	0.1449	10	0.87932	D	0	-28.5313	10.1303	0.42674	0.0:0.9065:0.0:0.0935	.	118;118;118	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	Y	118	ENSP00000360065:D118Y;ENSP00000360062:D118Y;ENSP00000360061:D118Y	ENSP00000360061:D118Y	D	-	1	0	WDR78	67131678	0.940000	0.31905	0.065000	0.19835	0.002000	0.02628	2.377000	0.44300	1.312000	0.45043	0.650000	0.86243	GAC		0.338	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	
KCNA10	3744	hgsc.bcm.edu	37	1	111060606	111060606	+	Silent	SNP	G	G	A	rs142311370	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:111060606G>A	ENST00000369771.2	-	1	1191	c.804C>T	c.(802-804)acC>acT	p.T268T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	268					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AGAAAGGGTCGGTGAACATGG	0.552													A|||	4	0.000798722	0.0	0.0014	5008	,	,		21380	0.0		0.0	False		,,,				2504	0.0031																0			1						A		1,4405	826.1+/-416.6	0,1,2202	191.0	150.0	164.0		804	-11.6	0.1	1	dbSNP_134	164	9,8591	818.9+/-406.8	0,9,4291	no	coding-synonymous	KCNA10	NM_005549.2		0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769		268/512	111060606	10,12996	2203	4300	6503	110862129	SO:0001819	synonymous_variant	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.804C>T	1.37:g.111060606G>A			110862129		Silent	SNP	ENST00000369771.2	37	CCDS826.1																																																																																				0.552	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
OVGP1	5016	hgsc.bcm.edu	37	1	111957138	111957138	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:111957138A>G	ENST00000369732.3	-	11	2040	c.1985T>C	c.(1984-1986)cTt>cCt	p.L662P		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	662			L -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.L662H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTTTAGAGAAAGAGGACTTGT	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)	1											61.0	66.0	64.0					1																	111957138		2203	4300	6503	111758661	SO:0001583	missense	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1985T>C	1.37:g.111957138A>G	ENSP00000358747:p.Leu662Pro		111758661	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.342821	0.41498	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.06449	3.3	4.92	-4.54	0.03452	.	14.586000	0.00166	N	0.000009	T	0.01558	0.0050	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.49390	-0.8945	10	0.87932	D	0	.	8.6962	0.34298	0.2698:0.153:0.5772:0.0	.	662;726	Q12889;Q59HH5	OVGP1_HUMAN;.	P	662;726;470	ENSP00000358747:L662P	ENSP00000358743:L726P	L	-	2	0	OVGP1	111758661	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.100000	0.10990	-0.749000	0.04747	-0.472000	0.04984	CTT		0.448	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557	
ST7L	54879	hgsc.bcm.edu	37	1	113161717	113161717	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:113161717C>T	ENST00000358039.4	-	1	323	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	ST7L_ENST00000343210.7_Missense_Mutation_p.V7M|ST7L_ENST00000360743.4_Missense_Mutation_p.V7M|ST7L_ENST00000544629.1_Missense_Mutation_p.V7M|ST7L_ENST00000369668.2_Missense_Mutation_p.V7M|ST7L_ENST00000490067.1_Missense_Mutation_p.V7M|ST7L_ENST00000538187.1_5'Flank|CAPZA1_ENST00000263168.3_5'Flank|ST7L_ENST00000463235.1_Intron|ST7L_ENST00000369666.1_Missense_Mutation_p.V7M|ST7L_ENST00000543570.1_Missense_Mutation_p.V7M|ST7L_ENST00000369669.1_5'Flank	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	7					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTCACCCACGCCGCCACGG	0.682																																																	0			1											18.0	18.0	18.0					1																	113161717		2196	4282	6478	112963240	SO:0001583	missense	54879			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.19G>A	1.37:g.113161717C>T	ENSP00000350734:p.Val7Met		112963240	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	CCDS848.1	.	.	.	.	.	.	.	.	.	.	C	6.768	0.510616	0.12883	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000544629;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000543570	T;T;T;T;T;T;T;T	0.32023	2.44;2.45;2.19;2.44;2.2;2.2;2.18;1.47	5.18	-1.44	0.08856	.	1.533070	0.03499	N	0.217775	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.27594	0.058;0.182;0.096;0.096;0.096;0.096;0.096;0.058	B;B;B;B;B;B;B;B	0.21360	0.01;0.015;0.034;0.023;0.023;0.034;0.018;0.015	T	0.28332	-1.0047	10	0.46703	T	0.11	21.0369	5.4488	0.16550	0.4216:0.3578:0.2206:0.0	.	7;7;7;7;7;7;7;7	B7Z8V6;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.;.;.;.;.;.;.;ST7L_HUMAN	M	7	ENSP00000350734:V7M;ENSP00000353972:V7M;ENSP00000445499:V7M;ENSP00000417140:V7M;ENSP00000358682:V7M;ENSP00000345312:V7M;ENSP00000358680:V7M;ENSP00000444088:V7M	ENSP00000345312:V7M	V	-	1	0	ST7L	112963240	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.183000	0.09712	-0.060000	0.13132	-0.264000	0.10439	GTG		0.682	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3		
BCL2L15	440603	hgsc.bcm.edu	37	1	114429214	114429214	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:114429214T>C	ENST00000393316.3	-	2	365	c.194A>G	c.(193-195)aAc>aGc	p.N65S	AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000488450.1_Intron|BCL2L15_ENST00000471267.1_Missense_Mutation_p.N65S|BCL2L15_ENST00000393320.3_Intron	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	65					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAATTCTCCGTTGAACTGGTC	0.423																																																	0			1											129.0	112.0	118.0					1																	114429214		2203	4300	6503	114230737	SO:0001583	missense	440603				CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 178"""	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.194A>G	1.37:g.114429214T>C	ENSP00000376992:p.Asn65Ser		114230737	A0PJY6|A8K074|I6LA82	Missense_Mutation	SNP	ENST00000393316.3	37	CCDS30809.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500187	0.44455	.	.	ENSG00000188761	ENST00000393316;ENST00000471267	T;T	0.04119	3.7;3.7	5.48	5.48	0.80851	.	0.051302	0.85682	D	0.000000	T	0.08670	0.0215	M	0.72118	2.19	0.40732	D	0.982752	D	0.59357	0.985	P	0.54270	0.747	T	0.01185	-1.1425	10	0.87932	D	0	.	13.1044	0.59239	0.0:0.0:0.0:1.0	.	65	Q5TBC7	B2L15_HUMAN	S	65	ENSP00000376992:N65S;ENSP00000417458:N65S	ENSP00000376992:N65S	N	-	2	0	BCL2L15	114230737	0.998000	0.40836	0.702000	0.30337	0.002000	0.02628	4.112000	0.57845	2.094000	0.63399	0.528000	0.53228	AAC		0.423	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033026.2	NM_001010922	
ITGA10	8515	hgsc.bcm.edu	37	1	145536014	145536014	+	Silent	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:145536014A>G	ENST00000369304.3	+	17	2281	c.2106A>G	c.(2104-2106)gcA>gcG	p.A702A	ITGA10_ENST00000538811.1_Silent_p.A571A|ITGA10_ENST00000539363.1_Silent_p.A559A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	702			A -> T (in dbSNP:rs35515885).		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTTCACCGCATCACTGGATG	0.542																																																	0			1											149.0	140.0	143.0					1																	145536014		2203	4300	6503	144247371	SO:0001819	synonymous_variant	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2106A>G	1.37:g.145536014A>G			144247371	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	CCDS918.1																																																																																				0.542	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
SPRR2E	6704	hgsc.bcm.edu	37	1	153066109	153066109	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:153066109T>C	ENST00000368751.1	-	2	193	c.119A>G	c.(118-120)aAg>aGg	p.K40R	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.K40R			P22531	SPR2E_HUMAN	small proline-rich protein 2E	40	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTGGACACTTTGGTGGTGG	0.622																																																	0			1											151.0	148.0	149.0					1																	153066109		2203	4298	6501	151332733	SO:0001583	missense	6704			AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.119A>G	1.37:g.153066109T>C	ENSP00000357740:p.Lys40Arg		151332733	Q5T9T4|Q96RM2	Missense_Mutation	SNP	ENST00000368751.1	37	CCDS30866.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483727	0.26598	.	.	ENSG00000203785	ENST00000368751;ENST00000368750	T;T	0.32753	1.44;1.44	4.3	1.89	0.25635	.	0.942785	0.08679	N	0.909641	T	0.05181	0.0138	.	.	.	0.09310	N	1	P	0.36909	0.573	B	0.33521	0.165	T	0.35599	-0.9782	9	0.21014	T	0.42	.	3.6516	0.08205	0.191:0.1085:0.0:0.7004	.	40	P22531	SPR2E_HUMAN	R	40	ENSP00000357740:K40R;ENSP00000357739:K40R	ENSP00000357739:K40R	K	-	2	0	SPRR2E	151332733	0.166000	0.22962	0.005000	0.12908	0.446000	0.32137	0.850000	0.27737	0.088000	0.17205	0.333000	0.21579	AAG		0.622	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1		
CREB3L4	148327	hgsc.bcm.edu	37	1	153941071	153941071	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:153941071T>C	ENST00000368607.3	+	2	336	c.70T>C	c.(70-72)Tcc>Ccc	p.S24P	CREB3L4_ENST00000368600.3_Missense_Mutation_p.S24P|CREB3L4_ENST00000271889.4_Missense_Mutation_p.S24P|CREB3L4_ENST00000368603.1_Missense_Mutation_p.S24P|RP11-422P24.10_ENST00000608147.1_RNA|SLC39A1_ENST00000310483.6_5'Flank|CREB3L4_ENST00000368601.1_Missense_Mutation_p.S24P|CREB3L4_ENST00000405694.3_5'UTR	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	24					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCGACAGGATCCGTCCTGGA	0.632																																																	0			1											64.0	66.0	65.0					1																	153941071		2203	4300	6503	152207695	SO:0001583	missense	148327			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.70T>C	1.37:g.153941071T>C	ENSP00000357596:p.Ser24Pro		152207695	D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.163709	0.38217	.	.	ENSG00000143578	ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	4.05	2.9	0.33743	.	0.441406	0.19606	N	0.110280	T	0.34221	0.0890	L	0.50333	1.59	0.80722	D	1	D;B;B	0.67145	0.996;0.001;0.003	D;B;B	0.65573	0.936;0.001;0.002	T	0.10636	-1.0621	10	0.44086	T	0.13	.	7.6103	0.28126	0.0:0.0:0.2173:0.7827	.	24;24;24	B4E2G3;Q5T4L0;Q8TEY5	.;.;CR3L4_HUMAN	P	24	ENSP00000391847:S24P;ENSP00000357596:S24P;ENSP00000271889:S24P;ENSP00000357590:S24P;ENSP00000357592:S24P;ENSP00000357589:S24P;ENSP00000402308:S24P	ENSP00000271889:S24P	S	+	1	0	CREB3L4	152207695	0.695000	0.27747	0.992000	0.48379	0.654000	0.38779	-0.206000	0.09398	0.864000	0.35578	0.459000	0.35465	TCC		0.632	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898	
IQGAP3	128239	hgsc.bcm.edu	37	1	156503657	156503657	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:156503657T>C	ENST00000361170.2	-	31	3894	c.3884A>G	c.(3883-3885)gAg>gGg	p.E1295G		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1295					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCCTGGTGCTCCAGCAACAG	0.592																																																	0			1											62.0	51.0	55.0					1																	156503657		2203	4300	6503	154770281	SO:0001583	missense	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3884A>G	1.37:g.156503657T>C	ENSP00000354451:p.Glu1295Gly		154770281	Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.550571	0.65311	.	.	ENSG00000183856	ENST00000361170	T	0.55760	0.5	4.99	4.99	0.66335	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.059563	0.64402	D	0.000001	T	0.68210	0.2976	M	0.82716	2.605	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.74137	-0.3762	10	0.72032	D	0.01	-25.7785	13.9408	0.64054	0.0:0.0:0.0:1.0	.	1295	Q86VI3	IQGA3_HUMAN	G	1295	ENSP00000354451:E1295G	ENSP00000354451:E1295G	E	-	2	0	IQGAP3	154770281	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	7.825000	0.86693	2.225000	0.72522	0.379000	0.24179	GAG		0.592	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
OR6Y1	391112	hgsc.bcm.edu	37	1	158517533	158517533	+	Silent	SNP	A	A	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:158517533A>T	ENST00000302617.3	-	1	362	c.363T>A	c.(361-363)gcT>gcA	p.A121A		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGGCCATGATAGCAAGAAGGA	0.463																																																	0			1											129.0	112.0	118.0					1																	158517533		2202	4300	6502	156784157	SO:0001819	synonymous_variant	391112			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.363T>A	1.37:g.158517533A>T			156784157	Q6IFS0	Silent	SNP	ENST00000302617.3	37	CCDS30899.1																																																																																				0.463	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189	
SPTA1	6708	hgsc.bcm.edu	37	1	158609792	158609792	+	Silent	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:158609792T>C	ENST00000368147.4	-	34	4923	c.4743A>G	c.(4741-4743)caA>caG	p.Q1581Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1581					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q1581H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTGTTCCAGTTGCTCCTAAC	0.473																																																	1	Substitution - Missense(1)	breast(1)	1											165.0	147.0	153.0					1																	158609792		1936	4144	6080	156876416	SO:0001819	synonymous_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4743A>G	1.37:g.158609792T>C			156876416	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SLAMF1	6504	hgsc.bcm.edu	37	1	160607154	160607154	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:160607154A>G	ENST00000302035.6	-	2	591	c.242T>C	c.(241-243)cTt>cCt	p.L81P	SLAMF1_ENST00000235739.5_Missense_Mutation_p.L81P|SLAMF1_ENST00000355199.3_Missense_Mutation_p.L81P|SLAMF1_ENST00000538290.1_Missense_Mutation_p.L81P	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	81	Ig-like V-type.		L -> F (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGATGGATCAAGAGACACTAT	0.443																																																	0			1											192.0	155.0	167.0					1																	160607154		2203	4300	6503	158873778	SO:0001583	missense	6504			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.242T>C	1.37:g.160607154A>G	ENSP00000306190:p.Leu81Pro		158873778	Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.476699	0.84640	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.19	4.19	0.49359	Signaling lymphocytic activation molecule, N-terminal (2);	1.325950	0.04873	N	0.446248	T	0.58609	0.2134	L	0.49126	1.545	0.39721	D	0.971476	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.51164	-0.8740	10	0.45353	T	0.12	-0.6847	9.9336	0.41537	1.0:0.0:0.0:0.0	.	81;81	B4E2E4;Q13291	.;SLAF1_HUMAN	P	81	ENSP00000306190:L81P;ENSP00000235739:L81P;ENSP00000438406:L81P;ENSP00000347333:L81P	ENSP00000235739:L81P	L	-	2	0	SLAMF1	158873778	0.602000	0.26916	0.407000	0.26434	0.960000	0.62799	3.598000	0.54038	2.117000	0.64856	0.402000	0.26972	CTT		0.443	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1		
ARHGAP30	257106	hgsc.bcm.edu	37	1	161018480	161018480	+	Silent	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:161018480T>C	ENST00000368013.3	-	12	2651	c.2331A>G	c.(2329-2331)caA>caG	p.Q777Q	USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Silent_p.Q600Q|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	777	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTCAGCAACTTGATCTTCCT	0.488																																																	0			1											208.0	207.0	207.0					1																	161018480		2203	4300	6503	159285104	SO:0001819	synonymous_variant	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2331A>G	1.37:g.161018480T>C			159285104	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	CCDS30918.1																																																																																				0.488	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720	
BRINP3	339479	hgsc.bcm.edu	37	1	190067183	190067183	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:190067183T>C	ENST00000367462.3	-	8	2497	c.2266A>G	c.(2266-2268)Aca>Gca	p.T756A	BRINP3_ENST00000534846.1_Missense_Mutation_p.T654A	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	756					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TAATCCATTGTGTTTGGCAAT	0.403																																																	0			1											149.0	146.0	147.0					1																	190067183		2203	4300	6503	188333806	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2266A>G	1.37:g.190067183T>C	ENSP00000356432:p.Thr756Ala		188333806	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	5.904	0.350860	0.11182	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.16324	2.61;2.35	5.59	5.59	0.84812	.	0.182240	0.48286	D	0.000181	T	0.06826	0.0174	N	0.01352	-0.895	0.30227	N	0.796255	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.12167	-1.0558	10	0.30078	T	0.28	.	13.7173	0.62705	0.0:0.0:0.0:1.0	.	654;756	B7Z260;Q76B58	.;FAM5C_HUMAN	A	756;654	ENSP00000356432:T756A;ENSP00000438022:T654A	ENSP00000356432:T756A	T	-	1	0	FAM5C	188333806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.997000	0.40786	2.122000	0.65172	0.455000	0.32223	ACA		0.403	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
PRSS38	339501	hgsc.bcm.edu	37	1	228005072	228005072	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:228005072C>T	ENST00000366757.3	+	3	498	c.474C>T	c.(472-474)acC>acT	p.T158T		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	158	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGAAGACCCGCATTGTGT	0.562																																																	0			1											185.0	154.0	164.0					1																	228005072		2203	4300	6503	226071695	SO:0001819	synonymous_variant	0				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.474C>T	1.37:g.228005072C>T			226071695	Q7RTY6	Silent	SNP	ENST00000366757.3	37	CCDS1563.1																																																																																				0.562	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062	
WDR64	128025	hgsc.bcm.edu	37	1	241959600	241959600	+	Silent	SNP	C	C	T	rs145395572	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:241959600C>T	ENST00000366552.2	+	26	3297	c.3090C>T	c.(3088-3090)ggC>ggT	p.G1030G	WDR64_ENST00000437684.2_Silent_p.G863G	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1030										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CACTGATTGGCGTAGAAGCCC	0.398																																																	0			1						C		0,4406		0,0,2203	106.0	95.0	99.0		3090	-3.5	0.1	1	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDR64	NM_144625.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1030/1082	241959600	1,13005	2203	4300	6503	240026223	SO:0001819	synonymous_variant	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3090C>T	1.37:g.241959600C>T			240026223	B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37		.	.	.	.	.	.	.	.	.	.	C	0.037	-1.301197	0.01364	0.0	1.16E-4	ENSG00000162843	ENST00000425826	.	.	.	5.22	-3.48	0.04739	.	.	.	.	.	T	0.24967	0.0606	.	.	.	0.32247	N	0.571996	.	.	.	.	.	.	T	0.39251	-0.9623	4	.	.	.	-8.6668	1.7104	0.02891	0.1284:0.2559:0.1316:0.4841	.	.	.	.	V	509	.	.	A	+	2	0	WDR64	240026223	0.007000	0.16637	0.096000	0.21009	0.005000	0.04900	-1.093000	0.03362	-0.431000	0.07307	-1.195000	0.01675	GCG		0.398	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
OR2T34	127068	hgsc.bcm.edu	37	1	248737880	248737880	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:248737880A>G	ENST00000328782.2	-	1	200	c.179T>C	c.(178-180)cTc>cCc	p.L60P		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGGGTGTGGAGGCGGGGCTC	0.567																																																	0			1											16.0	20.0	18.0					1																	248737880		2093	4233	6326	246804503	SO:0001583	missense	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.179T>C	1.37:g.248737880A>G	ENSP00000330904:p.Leu60Pro		246804503	B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.168660	0.78339	.	.	ENSG00000183310	ENST00000328782	T	0.14893	2.47	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.55641	0.1933	H	0.98951	4.38	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	T	0.66677	-0.5863	9	0.87932	D	0	.	9.2015	0.37260	1.0:0.0:0.0:0.0	.	60	Q8NGX1	O2T34_HUMAN	P	60	ENSP00000330904:L60P	ENSP00000330904:L60P	L	-	2	0	OR2T34	246804503	1.000000	0.71417	0.251000	0.24312	0.855000	0.48748	6.765000	0.74965	0.956000	0.37904	0.324000	0.21423	CTC		0.567	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821	
ZNF672	79894	hgsc.bcm.edu	37	1	249141646	249141646	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:249141646G>A	ENST00000306562.3	+	4	919	c.173G>A	c.(172-174)cGa>cAa	p.R58Q		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	58					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(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCTGACCTCCGAGCGCACAGG	0.637																																																	0			1											30.0	22.0	25.0					1																	249141646		2198	4298	6496	247108269	SO:0001583	missense	79894			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.173G>A	1.37:g.249141646G>A	ENSP00000421915:p.Arg58Gln		247108269	Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	G	4.488	0.090434	0.08632	.	.	ENSG00000171161	ENST00000306562;ENST00000428515;ENST00000306576	T;T	0.50813	2.06;0.73	3.83	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28589	U	0.014816	T	0.36496	0.0969	L	0.42744	1.35	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.19910	-1.0291	10	0.27785	T	0.31	.	9.5935	0.39561	0.1054:0.0:0.8946:0.0	.	58	Q499Z4	ZN672_HUMAN	Q	58	ENSP00000421915:R58Q;ENSP00000427021:R58Q	ENSP00000421915:R58Q	R	+	2	0	ZNF672	247108269	0.000000	0.05858	0.158000	0.22627	0.064000	0.16182	-0.591000	0.05753	0.969000	0.38237	-0.137000	0.14449	CGA		0.637	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836	
IFITM3	10410	hgsc.bcm.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:320649G>A	ENST00000399808.4	-	1	401	c.165C>T	c.(163-165)ccC>ccT	p.P55P	IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.P34P	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	55					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P55P(5)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637																																																	5	Substitution - coding silent(5)	endometrium(4)|central_nervous_system(1)	11											93.0	98.0	96.0					11																	320649		2062	4173	6235	310649	SO:0001819	synonymous_variant	10410			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.165C>T	11.37:g.320649G>A			310649	Q53Y76|Q96HK8|Q96J15	Silent	SNP	ENST00000399808.4	37	CCDS41585.1																																																																																				0.637	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034	
MUC6	4588	hgsc.bcm.edu	37	11	1024980	1024980	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:1024980G>A	ENST00000421673.2	-	24	3139	c.3089C>T	c.(3088-3090)tCg>tTg	p.S1030L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1030	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	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)		CTCCTTCCACGAGTTCACCAA	0.632																																																	0			11											38.0	46.0	44.0					11																	1024980		2123	4235	6358	1014980	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.3089C>T	11.37:g.1024980G>A	ENSP00000406861:p.Ser1030Leu		1014980	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665984	0.67700	.	.	ENSG00000184956	ENST00000421673	T	0.32272	1.46	3.88	2.95	0.34219	von Willebrand factor, type D domain (1);	0.000000	0.28834	U	0.013988	T	0.62122	0.2402	M	0.91459	3.21	0.31755	N	0.634118	D	0.89917	1.0	D	0.87578	0.998	T	0.74774	-0.3551	10	0.87932	D	0	.	13.7916	0.63146	0.0:0.1548:0.8452:0.0	.	1030	Q6W4X9	MUC6_HUMAN	L	1030	ENSP00000406861:S1030L	ENSP00000406861:S1030L	S	-	2	0	MUC6	1014980	0.997000	0.39634	0.990000	0.47175	0.904000	0.53231	2.795000	0.47861	0.968000	0.38212	0.561000	0.74099	TCG		0.632	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
OR52E2	119678	hgsc.bcm.edu	37	11	5080595	5080595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:5080595C>T	ENST00000321522.2	-	1	262	c.263G>A	c.(262-264)tGg>tAg	p.W88*		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGGTTGATCCAGAAGATTCC	0.498																																																	0			11											88.0	81.0	83.0					11																	5080595		2201	4298	6499	5037171	SO:0001587	stop_gained	119678			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.263G>A	11.37:g.5080595C>T	ENSP00000322088:p.Trp88*		5037171		Nonsense_Mutation	SNP	ENST00000321522.2	37	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747714	0.30955	.	.	ENSG00000176787	ENST00000321522	.	.	.	3.77	2.82	0.32997	.	0.000000	0.49916	D	0.000135	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0125	0.53295	0.175:0.825:0.0:0.0	.	.	.	.	X	88	.	ENSP00000322088:W88X	W	-	2	0	OR52E2	5037171	0.000000	0.05858	0.989000	0.46669	0.136000	0.21042	-1.150000	0.03178	1.148000	0.42385	0.650000	0.86243	TGG		0.498	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164	
TRIM34	53840	hgsc.bcm.edu	37	11	5653741	5653741	+	Silent	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:5653741T>C	ENST00000514226.1	+	2	517	c.180T>C	c.(178-180)ggT>ggC	p.G60G	TRIM34_ENST00000429814.2_Silent_p.G60G|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.G414G|TRIM6-TRIM34_ENST00000457787.2_Silent_p.G60G	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	60					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTGTGTGGTATCAGTTACT	0.512																																																	0			11											141.0	127.0	132.0					11																	5653741		2201	4297	6498	5610317	SO:0001819	synonymous_variant	445372			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.180T>C	11.37:g.5653741T>C			5610317	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Silent	SNP	ENST00000514226.1	37	CCDS31391.1																																																																																				0.512	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	
CCKBR	887	hgsc.bcm.edu	37	11	6292409	6292409	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:6292409C>T	ENST00000334619.2	+	5	1173	c.980C>T	c.(979-981)gCt>gTt	p.A327V	CCKBR_ENST00000525462.1_Missense_Mutation_p.A396V|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.A243V	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	327					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAGCTGCTGGCTAAGAAGCGC	0.612																																																	0			11											137.0	114.0	122.0					11																	6292409		2201	4296	6497	6248985	SO:0001583	missense	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.980C>T	11.37:g.6292409C>T	ENSP00000335544:p.Ala327Val		6248985	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858533	0.91433	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.72942	-0.7;-0.7;-0.7	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	M	0.87547	2.89	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.996	D	0.88643	0.3177	10	0.87932	D	0	.	16.7176	0.85400	0.0:1.0:0.0:0.0	.	396;261;327	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	V	327;243;396	ENSP00000335544:A327V;ENSP00000432079:A243V;ENSP00000435534:A396V	ENSP00000335544:A327V	A	+	2	0	CCKBR	6248985	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.604000	0.82830	2.513000	0.84729	0.557000	0.71058	GCT		0.612	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875	
STK33	65975	hgsc.bcm.edu	37	11	8414133	8414133	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:8414133A>G	ENST00000447869.1	-	12	2387	c.1469T>C	c.(1468-1470)gTg>gCg	p.V490A	STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.V303A|STK33_ENST00000534493.1_Missense_Mutation_p.V449A|STK33_ENST00000315204.1_Missense_Mutation_p.V490A|STK33_ENST00000396673.1_Missense_Mutation_p.V424A|STK33_ENST00000396672.1_Missense_Mutation_p.V490A			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	490					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GCTTGGAGTCACAGGGGTTTT	0.473																																																	0			11											207.0	194.0	198.0					11																	8414133		2201	4296	6497	8370709	SO:0001583	missense	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1469T>C	11.37:g.8414133A>G	ENSP00000416750:p.Val490Ala		8370709	Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366636	0.24771	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.71222	-0.5;-0.5;-0.5;-0.55;-0.54;2.0;-0.49	6.17	-8.88	0.00789	.	1.107710	0.06944	N	0.813365	T	0.38427	0.1040	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32161	-0.9917	10	0.07813	T	0.8	.	2.2138	0.03955	0.2295:0.2426:0.3507:0.1772	.	490	Q9BYT3	STK33_HUMAN	A	490;490;490;303;424;179;449	ENSP00000416750:V490A;ENSP00000320754:V490A;ENSP00000379905:V490A;ENSP00000351743:V303A;ENSP00000379906:V424A;ENSP00000415688:V179A;ENSP00000436418:V449A	ENSP00000320754:V490A	V	-	2	0	STK33	8370709	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.721000	0.04963	-1.769000	0.01297	-0.316000	0.08728	GTG		0.473	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906	
KCNC1	3746	hgsc.bcm.edu	37	11	17757798	17757798	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:17757798C>T	ENST00000379472.3	+	1	279	c.249C>T	c.(247-249)tgC>tgT	p.C83C	KCNC1_ENST00000265969.6_Silent_p.C83C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	83					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CCGACGTGTGCGGGCCGCTCT	0.677																																																	0			11											43.0	43.0	43.0					11																	17757798		2200	4292	6492	17714374	SO:0001819	synonymous_variant	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.249C>T	11.37:g.17757798C>T			17714374	K4DI87	Silent	SNP	ENST00000379472.3	37	CCDS7827.1																																																																																				0.677	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976	
MRGPRX3	117195	hgsc.bcm.edu	37	11	18159319	18159319	+	Silent	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:18159319T>C	ENST00000396275.2	+	3	931	c.570T>C	c.(568-570)gtT>gtC	p.V190V		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TATGTGTGGTTCTCTGTGGGT	0.507																																																	0			11											143.0	132.0	136.0					11																	18159319		2200	4293	6493	18115895	SO:0001819	synonymous_variant	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.570T>C	11.37:g.18159319T>C			18115895	B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	CCDS7830.1																																																																																				0.507	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031	
LUZP2	338645	hgsc.bcm.edu	37	11	24750801	24750801	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:24750801G>T	ENST00000336930.6	+	2	215	c.149G>T	c.(148-150)aGa>aTa	p.R50I	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	50						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAGACATCAAGAGAACTTGAT	0.408																																																	0			11											72.0	74.0	73.0					11																	24750801		2203	4299	6502	24707377	SO:0001583	missense	338645			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.149G>T	11.37:g.24750801G>T	ENSP00000336817:p.Arg50Ile		24707377	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970933	0.74246	.	.	ENSG00000187398	ENST00000336930;ENST00000529015	T;T	0.23147	1.92;1.92	5.98	3.12	0.35913	.	0.126562	0.64402	D	0.000019	T	0.30070	0.0753	L	0.44542	1.39	0.80722	D	1	D	0.53885	0.963	P	0.52343	0.696	T	0.02567	-1.1140	10	0.56958	D	0.05	-14.3361	9.0632	0.36447	0.2372:0.0:0.7628:0.0	.	50	Q86TE4	LUZP2_HUMAN	I	50	ENSP00000336817:R50I;ENSP00000437032:R50I	ENSP00000336817:R50I	R	+	2	0	LUZP2	24707377	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.099000	0.50267	0.871000	0.35750	0.650000	0.86243	AGA		0.408	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
OR4X1	390113	hgsc.bcm.edu	37	11	48285591	48285591	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:48285591T>C	ENST00000320048.1	+	1	179	c.179T>C	c.(178-180)tTt>tCt	p.F60S		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATGTATTTCTTTCTCAGCTAC	0.473																																																	0			11											150.0	136.0	141.0					11																	48285591		2201	4298	6499	48242167	SO:0001583	missense	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.179T>C	11.37:g.48285591T>C	ENSP00000321506:p.Phe60Ser		48242167	Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511757	0.64522	.	.	ENSG00000176567	ENST00000320048	T	0.14640	2.49	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.55986	0.1955	H	0.99650	4.68	0.28316	N	0.922447	D	0.76494	0.999	D	0.67725	0.953	T	0.66324	-0.5952	9	0.72032	D	0.01	.	11.6949	0.51538	0.0:0.0:0.0:1.0	.	60	Q8NH49	OR4X1_HUMAN	S	60	ENSP00000321506:F60S	ENSP00000321506:F60S	F	+	2	0	OR4X1	48242167	0.985000	0.35326	1.000000	0.80357	0.601000	0.36947	5.900000	0.69853	1.914000	0.55421	0.460000	0.39030	TTT		0.473	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726	
OR8H1	219469	hgsc.bcm.edu	37	11	56057872	56057872	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:56057872T>C	ENST00000313022.2	-	1	694	c.667A>G	c.(667-669)Acc>Gcc	p.T223A		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTCAGGATGGTAGAGAGAATG	0.403																																																	0			11											139.0	128.0	132.0					11																	56057872		2201	4294	6495	55814448	SO:0001583	missense	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.667A>G	11.37:g.56057872T>C	ENSP00000323595:p.Thr223Ala		55814448	B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.807011	0.00074	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00029	8.91	3.81	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.117893	0.39020	N	0.001497	T	0.00073	0.0002	N	0.10837	0.055	0.09310	N	1	B	0.12013	0.005	B	0.22880	0.042	T	0.23797	-1.0178	10	0.02654	T	1	.	6.8232	0.23868	0.0:0.2622:0.0:0.7378	.	223	Q8NGG4	OR8H1_HUMAN	A	223;219	ENSP00000323595:T223A	ENSP00000323595:T223A	T	-	1	0	OR8H1	55814448	0.000000	0.05858	0.011000	0.14972	0.003000	0.03518	-0.305000	0.08188	0.603000	0.29913	-0.350000	0.07774	ACC		0.403	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
OR5M10	390167	hgsc.bcm.edu	37	11	56344266	56344267	+	Missense_Mutation	DNP	CA	CA	TG	rs201834242		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C|A	C|A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:56344266_56344267CA>TG	ENST00000526812.2	-	1	996_997	c.931_932TG>CA	c.(931-933)TGt>CAt	p.C311H		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGCAATTTTACAAAAGGATTTT	0.361																																																	0			11																																								56100842|56100843	SO:0001583	missense	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.931_932delinsTG	11.37:g.56344266_56344267delinsTG	ENSP00000436004:p.Cys311His		56100842|56100843	B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	CCDS53630.1																																																																																				0.361	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741	
OOSP2	219990	hgsc.bcm.edu	37	11	59811097	59811097	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:59811097C>T	ENST00000278855.2	+	2	405	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	PLAC1L_ENST00000532905.1_Missense_Mutation_p.R43C	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		74						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						ATATCTTGTTCGTGATTGTGG	0.343																																																	0			11											81.0	79.0	80.0					11																	59811097		2201	4295	6496	59567673	SO:0001583	missense	219990																														ENST00000278855.2:c.220C>T	11.37:g.59811097C>T	ENSP00000278855:p.Arg74Cys		59567673	E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	C	8.537	0.872255	0.17322	.	.	ENSG00000149507	ENST00000278855;ENST00000532905	D;D	0.82344	-1.6;-1.6	3.4	-6.81	0.01704	.	4.023620	0.00735	N	0.000965	T	0.64114	0.2569	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56565	-0.7958	10	0.39692	T	0.17	1.3025	5.9635	0.19313	0.2724:0.1427:0.0:0.5849	.	74	Q86WS3	PLACL_HUMAN	C	74;43	ENSP00000278855:R74C;ENSP00000433831:R43C	ENSP00000278855:R74C	R	+	1	0	PLAC1L	59567673	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.293000	0.01145	-2.076000	0.00875	-0.262000	0.10625	CGT		0.343	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1		
FADS2	9415	hgsc.bcm.edu	37	11	61632668	61632668	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:61632668C>T	ENST00000278840.4	+	11	1832	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	FADS2_ENST00000257261.6_Missense_Mutation_p.P379L|FADS2_ENST00000522056.1_Missense_Mutation_p.P370L	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	401					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AAGATCGCCCCGCTGGTGAAG	0.602																																																	0			11											76.0	58.0	64.0					11																	61632668		2202	4299	6501	61389244	SO:0001583	missense	9415			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.1202C>T	11.37:g.61632668C>T	ENSP00000278840:p.Pro401Leu		61389244	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545599	0.86022	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840	T;T;T	0.20738	2.05;2.05;2.05	4.66	4.66	0.58398	Fatty acid desaturase, type 1 (1);	0.000000	0.56097	D	0.000031	T	0.54415	0.1857	M	0.90252	3.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.982;0.995;0.985	T	0.65635	-0.6120	10	0.66056	D	0.02	0.3691	16.6753	0.85277	0.0:1.0:0.0:0.0	.	370;401;379	B7Z634;O95864;O95864-2	.;FADS2_HUMAN;.	L	379;370;401	ENSP00000257261:P379L;ENSP00000429500:P370L;ENSP00000278840:P401L	ENSP00000257261:P379L	P	+	2	0	FADS2	61389244	1.000000	0.71417	0.939000	0.37840	0.764000	0.43329	6.444000	0.73452	2.294000	0.77228	0.313000	0.20887	CCG		0.602	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265	
SLC22A25	387601	hgsc.bcm.edu	37	11	62996902	62996902	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:62996902T>C	ENST00000306494.6	-	1	222	c.223A>G	c.(223-225)Atc>Gtc	p.I75V	SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GGGATGGAGATTCTCAGGAGG	0.512																																																	0			11											136.0	123.0	128.0					11																	62996902		2201	4298	6499	62753478	SO:0001583	missense	387601			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.223A>G	11.37:g.62996902T>C	ENSP00000307443:p.Ile75Val		62753478		Missense_Mutation	SNP	ENST00000306494.6	37	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	T	2.154	-0.393762	0.04899	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.35236	1.32	3.7	-4.11	0.03928	Major facilitator superfamily domain (1);	0.737600	0.12650	N	0.450490	T	0.23532	0.0569	L	0.41027	1.25	0.42943	D	0.994357	B;B	0.31705	0.028;0.336	B;B	0.31442	0.04;0.13	T	0.16541	-1.0399	10	0.16896	T	0.51	.	10.8094	0.46538	0.0:0.5974:0.0:0.4026	.	73;75	A4IF29;Q6T423	.;S22AP_HUMAN	V	75	ENSP00000307443:I75V	ENSP00000307443:I75V	I	-	1	0	SLC22A25	62753478	0.000000	0.05858	0.973000	0.42090	0.604000	0.37047	-1.311000	0.02723	-0.668000	0.05296	0.386000	0.25728	ATC		0.512	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352	
FAM86C1	55199	hgsc.bcm.edu	37	11	71507139	71507139	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:71507139G>C	ENST00000359244.4	+	4	361	c.338G>C	c.(337-339)aGc>aCc	p.S113T	FAM86C1_ENST00000346333.6_Missense_Mutation_p.S79T|FAM86C1_ENST00000426628.2_Missense_Mutation_p.S106T	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	113										lung(1)	1						GGGAGCACCAGCGGGCTCCTC	0.627																																																	0			11											70.0	77.0	75.0					11																	71507139		2200	4293	6493	71184787	SO:0001583	missense	55199			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.338G>C	11.37:g.71507139G>C	ENSP00000352182:p.Ser113Thr		71184787	Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	CCDS41686.1	.	.	.	.	.	.	.	.	.	.	.	8.217	0.801675	0.16397	.	.	ENSG00000158483	ENST00000346333;ENST00000359244;ENST00000426628;ENST00000528685	T;T;T;T	0.24723	1.89;2.23;1.88;1.84	0.906	0.906	0.19314	.	.	.	.	.	T	0.11239	0.0274	N	0.24115	0.695	0.09310	N	1	B;P;P	0.35493	0.006;0.505;0.505	B;B;B	0.27500	0.003;0.08;0.08	T	0.20874	-1.0262	9	0.12103	T	0.63	.	5.193	0.15220	0.0:0.0:1.0:0.0	.	106;79;113	G3V0F7;Q9NVL1-2;Q9NVL1	.;.;FA86C_HUMAN	T	79;113;106;79	ENSP00000325662:S79T;ENSP00000352182:S113T;ENSP00000391329:S106T;ENSP00000436598:S79T	ENSP00000325662:S79T	S	+	2	0	FAM86C1	71184787	0.000000	0.05858	0.007000	0.13788	0.087000	0.18053	0.249000	0.18216	0.793000	0.33875	0.184000	0.17185	AGC		0.627	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563	
CAPN5	726	hgsc.bcm.edu	37	11	76830139	76830139	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:76830139C>T	ENST00000278559.3	+	9	1420	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CAPN5_ENST00000456580.2_Missense_Mutation_p.R451W|CAPN5_ENST00000529629.1_Missense_Mutation_p.R411W|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	411	Domain III.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GCGGCCAAAGCGGTCTACGCG	0.592																																																	0			11											79.0	64.0	69.0					11																	76830139		2200	4292	6492	76507787	SO:0001583	missense	726				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1231C>T	11.37:g.76830139C>T	ENSP00000278559:p.Arg411Trp		76507787	O00263	Missense_Mutation	SNP	ENST00000278559.3	37	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135947	0.77662	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.90261	-2.64;-2.64;-2.64	5.22	5.22	0.72569	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.052633	0.64402	D	0.000001	D	0.96522	0.8865	H	0.96015	3.755	0.53688	D	0.999978	D;D;D;D	0.89917	0.996;1.0;0.999;0.987	P;D;D;P	0.76575	0.872;0.988;0.978;0.802	D	0.97032	0.9751	10	0.87932	D	0	.	11.9311	0.52847	0.2739:0.7261:0.0:0.0	.	449;451;451;411	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	W	411;451;411;451;451	ENSP00000278559:R411W;ENSP00000432332:R411W;ENSP00000409996:R451W	ENSP00000278559:R411W	R	+	1	2	CAPN5	76507787	0.230000	0.23740	0.974000	0.42286	0.835000	0.47333	0.727000	0.25999	2.603000	0.88011	0.655000	0.94253	CGG		0.592	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055	
DLG2	1740	hgsc.bcm.edu	37	11	83770481	83770481	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:83770481C>T	ENST00000532653.1	-	6	783	c.481G>A	c.(481-483)Gtt>Att	p.V161I	DLG2_ENST00000280241.8_Missense_Mutation_p.V200I|DLG2_ENST00000418306.2_Missense_Mutation_p.V110I|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000398301.2_Missense_Mutation_p.V200I|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000543673.1_Missense_Mutation_p.V266I|DLG2_ENST00000376104.2_Missense_Mutation_p.V266I|DLG2_ENST00000330014.6_Missense_Mutation_p.V100I|DLG2_ENST00000531015.1_Missense_Mutation_p.V128I|DLG2_ENST00000398309.2_Missense_Mutation_p.V161I|DLG2_ENST00000524982.1_Missense_Mutation_p.V161I			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.V161F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTGTGGGAAACCTCTGACACA	0.468																																																	1	Substitution - Missense(1)	ovary(1)	11											89.0	81.0	84.0					11																	83770481		1916	4151	6067	83448129	SO:0001583	missense	4355			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.481G>A	11.37:g.83770481C>T	ENSP00000435849:p.Val161Ile		83448129	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.398531	0.96030	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.17	5.17	0.71159	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000019	T	0.50222	0.1603	L	0.48218	1.51	0.80722	D	1	D;D;P;D;D;D;P;D	0.76494	0.992;0.998;0.89;0.999;0.981;0.99;0.864;0.99	D;D;P;D;D;D;P;D	0.83275	0.995;0.994;0.571;0.996;0.937;0.984;0.731;0.991	T	0.39354	-0.9618	9	.	.	.	.	18.6643	0.91483	0.0:1.0:0.0:0.0	.	128;161;161;100;200;266;161;110	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	I	161;266;110;266;200;100;161;161;266;128;200;78	ENSP00000381355:V161I;ENSP00000365272:V266I;ENSP00000402275:V110I;ENSP00000441994:V266I;ENSP00000280241:V200I;ENSP00000381353:V100I;ENSP00000432894:V161I;ENSP00000435849:V161I;ENSP00000433848:V128I;ENSP00000381346:V200I;ENSP00000381344:V78I	.	V	-	1	0	DLG2	83448129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.420000	0.82092	0.460000	0.39030	GTT		0.468	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
SYTL2	54843	hgsc.bcm.edu	37	11	85445096	85445096	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:85445096C>G	ENST00000528231.1	-	6	1550	c.1273G>C	c.(1273-1275)Gaa>Caa	p.E425Q	SYTL2_ENST00000527523.1_Missense_Mutation_p.E377Q|SYTL2_ENST00000389960.4_Missense_Mutation_p.E425Q|SYTL2_ENST00000524452.1_Missense_Mutation_p.E425Q|SYTL2_ENST00000316356.4_Missense_Mutation_p.E426Q	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	425					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTTAAAACTTCTGAATGAGAA	0.368																																																	0			11											151.0	144.0	146.0					11																	85445096		2203	4299	6502	85122744	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1273G>C	11.37:g.85445096C>G	ENSP00000431701:p.Glu425Gln		85122744	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	6.755	0.508073	0.12883	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.34859	1.39;1.47;1.44;1.34;1.39	6.08	3.11	0.35812	.	.	.	.	.	T	0.28896	0.0717	L	0.51422	1.61	0.09310	N	0.999997	B;B;B;B;B	0.32573	0.376;0.376;0.259;0.376;0.045	B;B;B;B;B	0.29942	0.109;0.109;0.051;0.109;0.019	T	0.15065	-1.0450	8	.	.	.	.	6.7323	0.23390	0.0:0.5747:0.2762:0.1491	.	377;425;425;426;283	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	Q	425;426;425;377;425	ENSP00000374610:E425Q;ENSP00000318803:E426Q;ENSP00000431701:E425Q;ENSP00000434010:E377Q;ENSP00000435238:E425Q	.	E	-	1	0	SYTL2	85122744	0.203000	0.23435	0.003000	0.11579	0.232000	0.25224	1.046000	0.30354	0.411000	0.25702	0.655000	0.94253	GAA		0.368	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
GPR83	10888	hgsc.bcm.edu	37	11	94113833	94113833	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:94113833G>A	ENST00000243673.2	-	4	925	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F	GPR83_ENST00000539203.2_Missense_Mutation_p.L210F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	252					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGATGAGGAGGGGCAGGATG	0.567																																																	0			11											80.0	75.0	76.0					11																	94113833		2201	4298	6499	93753481	SO:0001583	missense	10888			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.754C>T	11.37:g.94113833G>A	ENSP00000243673:p.Leu252Phe		93753481	B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410176	0.62399	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.40476	1.03;1.03	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	M	0.77616	2.38	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.60026	-0.7343	10	0.20046	T	0.44	.	17.7794	0.88519	0.0:0.0:1.0:0.0	.	252	Q9NYM4	GPR83_HUMAN	F	252;210	ENSP00000243673:L252F;ENSP00000441550:L210F	ENSP00000243673:L252F	L	-	1	0	GPR83	93753481	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	6.504000	0.73704	2.535000	0.85469	0.655000	0.94253	CTC		0.567	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540	
ATM	472	hgsc.bcm.edu	37	11	108142043	108142043	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:108142043A>G	ENST00000452508.2	+	21	3176	c.2987A>G	c.(2986-2988)cAt>cGt	p.H996R	ATM_ENST00000278616.4_Missense_Mutation_p.H996R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	996					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.H996L(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CATGTCCTTCATGTAGTGAAA	0.353			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	1	Substitution - Missense(1)	liver(1)	11											180.0	172.0	174.0					11																	108142043		2201	4298	6499	107647253	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2987A>G	11.37:g.108142043A>G	ENSP00000388058:p.His996Arg		107647253	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	9.913	1.210122	0.22289	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.66280	-0.2;-0.2;-0.2	5.5	-7.9	0.01169	Armadillo-type fold (1);	0.317850	0.39210	N	0.001435	T	0.51041	0.1651	L	0.57536	1.79	0.09310	N	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.36359	-0.9751	10	0.22706	T	0.39	.	18.6793	0.91541	0.1386:0.7932:0.0682:0.0	.	996	Q13315	ATM_HUMAN	R	996	ENSP00000435747:H996R;ENSP00000278616:H996R;ENSP00000388058:H996R	ENSP00000278616:H996R	H	+	2	0	ATM	107647253	0.012000	0.17670	0.008000	0.14137	0.334000	0.28698	0.194000	0.17135	-0.859000	0.04105	0.459000	0.35465	CAT		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	hgsc.bcm.edu	37	11	108202754	108202754	+	Missense_Mutation	SNP	A	A	G	rs587779867		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:108202754A>G	ENST00000452508.2	+	53	7967	c.7778A>G	c.(7777-7779)cAg>cGg	p.Q2593R	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.Q2593R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2593					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CAAAGCTCTCAGCTTGATGAG	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			11											71.0	70.0	71.0					11																	108202754		2201	4298	6499	107707964	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7778A>G	11.37:g.108202754A>G	ENSP00000388058:p.Gln2593Arg		107707964	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	8.047	0.765211	0.15914	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.79141	-1.24;-1.24	5.44	4.28	0.50868	Armadillo-type fold (1);	0.157662	0.64402	D	0.000020	T	0.67795	0.2931	L	0.45581	1.43	0.80722	D	1	B	0.28552	0.215	B	0.24155	0.051	T	0.62338	-0.6875	10	0.38643	T	0.18	.	8.1909	0.31368	0.7279:0.1391:0.0:0.133	.	2593	Q13315	ATM_HUMAN	R	2593	ENSP00000278616:Q2593R;ENSP00000388058:Q2593R	ENSP00000278616:Q2593R	Q	+	2	0	ATM	107707964	0.997000	0.39634	1.000000	0.80357	0.567000	0.35839	1.617000	0.36943	0.855000	0.35359	0.443000	0.29094	CAG		0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
HTR3A	3359	hgsc.bcm.edu	37	11	113860381	113860381	+	Missense_Mutation	SNP	G	G	A	rs34111946	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:113860381G>A	ENST00000504030.2	+	9	1778	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	HTR3A_ENST00000535865.1_Missense_Mutation_p.V189M|HTR3A_ENST00000355556.2_Missense_Mutation_p.V483M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V430M|HTR3A_ENST00000375498.2_Missense_Mutation_p.V451M|HTR3A_ENST00000506841.2_Missense_Mutation_p.V477M			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	445	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CTGGCTGCGCGTGGGCTCCGT	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		17034	0.002		0.0	False		,,,				2504	0.0																0			11						G	MET/VAL,MET/VAL,MET/VAL	1,4401	2.1+/-5.4	0,1,2200	77.0	71.0	73.0		1351,1288,1447	5.7	1.0	11	dbSNP_126	73	0,8592		0,0,4296	no	missense,missense,missense	HTR3A	NM_000869.5,NM_001161772.2,NM_213621.3	21,21,21	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	451/485,430/464,483/517	113860381	1,12993	2201	4296	6497	113365591	SO:0001583	missense	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1333G>A	11.37:g.113860381G>A	ENSP00000424189:p.Val445Met		113365591	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.936011	0.73442	2.27E-4	0.0	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.87412	-2.25;1.98;-2.25;1.98;-2.25;-2.25	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.976;0.997	D	0.93607	0.6935	10	0.62326	D	0.03	-25.58	15.353	0.74405	0.0:0.1389:0.8611:0.0	rs34111946	430;483;451	B4DSY6;G5E986;Q7KZM7	.;.;.	M	445;483;451;477;189;430	ENSP00000424189:V445M;ENSP00000347754:V483M;ENSP00000364648:V451M;ENSP00000424776:V477M;ENSP00000437776:V189M;ENSP00000299961:V430M	ENSP00000299961:V430M	V	+	1	0	HTR3A	113365591	1.000000	0.71417	0.963000	0.40424	0.444000	0.32077	6.310000	0.72830	2.710000	0.92621	0.655000	0.94253	GTG		0.612	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
CBL	867	hgsc.bcm.edu	37	11	119149247	119149247	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:119149247T>C	ENST00000264033.4	+	9	1631	c.1255T>C	c.(1255-1257)Tgc>Cgc	p.C419R		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	419	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G397_I429del(1)|p.C419R(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTGTCCTTTCTGCCGATGTGA	0.438			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	3	Deletion - In frame(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(3)	11											125.0	122.0	123.0					11																	119149247		2199	4295	6494	118654457	SO:0001583	missense	867	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1255T>C	11.37:g.119149247T>C	ENSP00000264033:p.Cys419Arg		118654457	A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635166	0.67130	.	.	ENSG00000110395	ENST00000264033	D	0.99167	-5.51	5.96	5.96	0.96718	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97048	0.9762	10	0.87932	D	0	-42.5012	16.4484	0.83959	0.0:0.0:0.0:1.0	.	419	P22681	CBL_HUMAN	R	419	ENSP00000264033:C419R	ENSP00000264033:C419R	C	+	1	0	CBL	118654457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.285000	0.76669	0.533000	0.62120	TGC		0.438	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
PANX3	116337	hgsc.bcm.edu	37	11	124489410	124489410	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:124489410C>T	ENST00000284288.2	+	4	825	c.758C>T	c.(757-759)aCc>aTc	p.T253I		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	253					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		AGTGATGAGACCCATGTCCCC	0.473																																																	0			11											123.0	108.0	113.0					11																	124489410		2201	4299	6500	123994620	SO:0001583	missense	116337			AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.758C>T	11.37:g.124489410C>T	ENSP00000284288:p.Thr253Ile		123994620		Missense_Mutation	SNP	ENST00000284288.2	37	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	C	8.628	0.892908	0.17613	.	.	ENSG00000154143	ENST00000284288	T	0.29655	1.56	5.39	1.8	0.24995	.	0.695263	0.15091	N	0.281094	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14337	-1.0476	10	0.48119	T	0.1	-9.3293	5.5826	0.17258	0.1418:0.6024:0.0:0.2558	.	253	Q96QZ0	PANX3_HUMAN	I	253	ENSP00000284288:T253I	ENSP00000284288:T253I	T	+	2	0	PANX3	123994620	0.020000	0.18652	0.586000	0.28679	0.709000	0.40893	0.871000	0.28023	1.266000	0.44231	0.561000	0.74099	ACC		0.473	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1		
FOXF2	2295	hgsc.bcm.edu	37	6	1390681	1390681	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr6:1390681C>T	ENST00000259806.1	+	1	613	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	167					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		GGGCCTCGGGCGGCCCGGCAA	0.667																																																	0			6											46.0	56.0	53.0					6																	1390681		2202	4300	6502	1335680	SO:0001583	missense	2295			U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.499C>T	6.37:g.1390681C>T	ENSP00000259806:p.Arg167Trp		1335680	Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941817	0.73557	.	.	ENSG00000137273	ENST00000259806	D	0.95724	-3.79	4.53	3.65	0.41850	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	D	0.000001	D	0.97210	0.9088	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97427	1.0013	10	0.87932	D	0	.	11.0223	0.47726	0.3352:0.6648:0.0:0.0	.	167	Q12947	FOXF2_HUMAN	W	167	ENSP00000259806:R167W	ENSP00000259806:R167W	R	+	1	2	FOXF2	1335680	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.780000	0.26760	0.898000	0.36418	0.536000	0.68110	CGG		0.667	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1		
SKIV2L	6499	hgsc.bcm.edu	37	6	31933753	31933753	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr6:31933753G>A	ENST00000375394.2	+	18	2278	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R529Q	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	722	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCAAGGGCCGAGTGCCCGAG	0.662																																																	0			6											28.0	24.0	26.0					6																	31933753		1509	2708	4217	32041732	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2165G>A	6.37:g.31933753G>A	ENSP00000364543:p.Arg722Gln		32041732	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806760	0.50421	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.46063	1.01;0.88	5.34	5.34	0.76211	Helicase, C-terminal (1);	0.117336	0.56097	D	0.000022	T	0.07593	0.0191	N	0.08118	0	0.34074	D	0.658782	P	0.51791	0.948	B	0.33254	0.16	T	0.06023	-1.0850	10	0.26408	T	0.33	-9.2184	8.2915	0.31960	0.17:0.0:0.83:0.0	.	722	Q15477	SKIV2_HUMAN	Q	722;564;529	ENSP00000364543:R722Q;ENSP00000442645:R529Q	ENSP00000364543:R722Q	R	+	2	0	SKIV2L	32041732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.623000	0.54224	2.494000	0.84150	0.655000	0.94253	CGA		0.662	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3		
KHDC1	80759	hgsc.bcm.edu	37	6	73951352	73951352	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr6:73951352G>A	ENST00000370384.3	-	5	1114	c.614C>T	c.(613-615)gCt>gTt	p.A205V	RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Missense_Mutation_p.A132V	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	205						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						TATCCTGGGAGCCAAAGACAG	0.527																																																	0			6											114.0	119.0	117.0					6																	73951352		2056	4182	6238	74008073	SO:0001583	missense	80759				CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.614C>T	6.37:g.73951352G>A	ENSP00000359411:p.Ala205Val		74008073	Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	ENST00000370384.3	37	CCDS59027.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630726	0.28978	.	.	ENSG00000135314	ENST00000257765;ENST00000370384	T	0.32272	1.46	1.99	1.07	0.20283	.	.	.	.	.	T	0.04770	0.0129	N	0.22421	0.69	0.09310	N	1	P	0.44659	0.84	B	0.37692	0.256	T	0.20140	-1.0284	9	0.08381	T	0.77	.	6.2543	0.20865	0.0:0.3173:0.6827:0.0	.	205	Q4VXA5	KHDC1_HUMAN	V	132;205	ENSP00000359411:A205V	ENSP00000257765:A132V	A	-	2	0	KHDC1	74008073	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	0.523000	0.22925	0.375000	0.24679	0.561000	0.74099	GCT		0.527	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568	
PHIP	55023	hgsc.bcm.edu	37	6	79692787	79692787	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr6:79692787T>C	ENST00000275034.4	-	23	2752	c.2585A>G	c.(2584-2586)aAt>aGt	p.N862S	PHIP_ENST00000479165.1_5'Flank	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	862					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGGCTGCAGATTAATTCCTGC	0.363																																																	0			6											108.0	110.0	109.0					6																	79692787		2203	4300	6503	79749506	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2585A>G	6.37:g.79692787T>C	ENSP00000275034:p.Asn862Ser		79749506	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349165	0.82132	.	.	ENSG00000146247	ENST00000275034	T	0.53857	0.6	5.12	5.12	0.69794	.	0.064417	0.64402	D	0.000007	T	0.46852	0.1414	M	0.64080	1.96	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.48738	0.588;0.588	T	0.49093	-0.8975	9	.	.	.	-21.882	14.092	0.64998	0.0:0.0:0.0:1.0	.	862;862	A7J992;Q8WWQ0	.;PHIP_HUMAN	S	862	ENSP00000275034:N862S	.	N	-	2	0	PHIP	79749506	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	7.694000	0.84235	1.921000	0.55644	0.383000	0.25322	AAT		0.363	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
BCLAF1	9774	hgsc.bcm.edu	37	6	136599122	136599122	+	Silent	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr6:136599122T>C	ENST00000531224.1	-	4	1149	c.897A>G	c.(895-897)agA>agG	p.R299R	BCLAF1_ENST00000527536.1_Silent_p.R299R|BCLAF1_ENST00000527759.1_Silent_p.R297R|BCLAF1_ENST00000530767.1_Silent_p.R299R|BCLAF1_ENST00000353331.4_Silent_p.R297R|BCLAF1_ENST00000392348.2_Silent_p.R297R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	299					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGCAGGACTTCTTCGTGAAG	0.468																																					Colon(142;1534 1789 5427 7063 28491)												0			6											86.0	77.0	80.0					6																	136599122		2203	4300	6503	136640815	SO:0001819	synonymous_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.897A>G	6.37:g.136599122T>C			136640815	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	CCDS5177.1																																																																																				0.468	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
TNFAIP3	7128	hgsc.bcm.edu	37	6	138198220	138198220	+	Silent	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr6:138198220A>G	ENST00000237289.4	+	6	879	c.813A>G	c.(811-813)cgA>cgG	p.R271R	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	271	TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TAGAAATCCGAGCTGTTCCAC	0.323			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)	6											65.0	73.0	70.0					6																	138198220		2203	4300	6503	138239913	SO:0001819	synonymous_variant	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.813A>G	6.37:g.138198220A>G			138239913	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	CCDS5187.1																																																																																				0.323	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1		
HIVEP2	3097	hgsc.bcm.edu	37	6	143090731	143090731	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr6:143090731G>A	ENST00000367604.1	-	4	5784	c.5145C>T	c.(5143-5145)acC>acT	p.T1715T	HIVEP2_ENST00000012134.2_Silent_p.T1715T|HIVEP2_ENST00000367603.2_Silent_p.T1715T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1715					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TAAGCTTGCCGGTTCCAGGCC	0.433																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0			6											116.0	107.0	110.0					6																	143090731		1869	4122	5991	143132424	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5145C>T	6.37:g.143090731G>A			143132424	Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.433	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
ULBP2	80328	hgsc.bcm.edu	37	6	150267608	150267608	+	Silent	SNP	C	C	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr6:150267608C>G	ENST00000367351.3	+	3	523	c.450C>G	c.(448-450)ctC>ctG	p.L150L		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	150	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCTTCCTCCTCTTTGACTCAG	0.493																																																	0			6											247.0	222.0	230.0					6																	150267608		2203	4300	6503	150309301	SO:0001819	synonymous_variant	80328			AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.450C>G	6.37:g.150267608C>G			150309301	Q5VUN4	Silent	SNP	ENST00000367351.3	37	CCDS5222.1																																																																																				0.493	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1		
SYNE1	23345	hgsc.bcm.edu	37	6	152485384	152485384	+	Missense_Mutation	SNP	C	C	T	rs372990463		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr6:152485384C>T	ENST00000367255.5	-	131	24305	c.23704G>A	c.(23704-23706)Gct>Act	p.A7902T	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7831T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7831T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A7514T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A2426T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A57T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A57T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7902T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7902					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCGATGTGAGCGAGCCAGGTC	0.502										HNSCC(10;0.0054)																																							0			6						C	THR/ALA,THR/ALA	0,4406		0,0,2203	103.0	92.0	96.0		23491,23704	3.4	1.0	6		96	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	7831/8750,7902/8798	152485384	2,13004	2203	4300	6503	152527077	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23704G>A	6.37:g.152485384C>T	ENSP00000356224:p.Ala7902Thr		152527077	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998983	0.74818	0.0	2.33E-4	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.26	3.37	0.38596	.	0.252994	0.27549	N	0.018862	T	0.36744	0.0978	N	0.22421	0.69	0.42346	D	0.992356	D;D;D;D;P	0.71674	0.985;0.998;0.998;0.998;0.896	P;D;P;D;B	0.64321	0.821;0.924;0.876;0.924;0.378	T	0.34976	-0.9807	10	0.56958	D	0.05	.	9.5516	0.39313	0.142:0.7837:0.0:0.0743	.	7902;7902;7831;7831;104	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	T	7902;57;548;7831;7902;7831;7514;2426;64;59;824;57	ENSP00000356224:A7902T;ENSP00000441052:A57T;ENSP00000356226:A548T;ENSP00000396024:A7831T;ENSP00000265368:A7902T;ENSP00000390975:A7831T;ENSP00000341887:A7514T;ENSP00000349276:A2426T;ENSP00000356220:A824T;ENSP00000346701:A57T	ENSP00000265368:A7902T	A	-	1	0	SYNE1	152527077	0.775000	0.28604	0.965000	0.40720	0.856000	0.48823	1.510000	0.35790	1.219000	0.43474	-0.225000	0.12378	GCT		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	hgsc.bcm.edu	37	6	152629718	152629718	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr6:152629718T>C	ENST00000367255.5	-	91	17853	c.17252A>G	c.(17251-17253)cAg>cGg	p.Q5751R	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q5680R|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q5680R|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q5363R|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q275R|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q5751R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5751					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCAGTTGCTGGAGATGTTT	0.393										HNSCC(10;0.0054)																																							0			6											185.0	166.0	173.0					6																	152629718		2203	4300	6503	152671411	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17252A>G	6.37:g.152629718T>C	ENSP00000356224:p.Gln5751Arg		152671411	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	17.19	3.325235	0.60743	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.96	4.8	0.61643	.	0.100348	0.44483	N	0.000460	T	0.18718	0.0449	L	0.32530	0.975	0.58432	D	0.999993	B;B;B	0.20368	0.044;0.044;0.036	B;B;B	0.25405	0.06;0.06;0.059	T	0.06552	-1.0820	10	0.13853	T	0.58	.	12.1123	0.53846	0.0:0.0668:0.0:0.9332	.	5751;5751;5680	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	R	5751;5680;5751;5680;5363;275	ENSP00000356224:Q5751R;ENSP00000396024:Q5680R;ENSP00000265368:Q5751R;ENSP00000390975:Q5680R;ENSP00000341887:Q5363R;ENSP00000349276:Q275R	ENSP00000265368:Q5751R	Q	-	2	0	SYNE1	152671411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.304000	0.72800	1.076000	0.40961	0.533000	0.62120	CAG		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
METTL16	79066	hgsc.bcm.edu	37	17	2323838	2323838	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr17:2323838G>A	ENST00000263092.6	-	10	1242	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	METTL16_ENST00000538844.1_Missense_Mutation_p.T154M|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	372							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TTCTATGGCCGTTAGGAAAAG	0.473																																																	0			17											66.0	67.0	66.0					17																	2323838		1851	4095	5946	2270588	SO:0001583	missense	79066			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1115C>T	17.37:g.2323838G>A	ENSP00000263092:p.Thr372Met		2270588	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368500	0.82463	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.53423	0.76;0.62	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.70673	-0.4807	10	0.72032	D	0.01	-12.239	16.9366	0.86204	0.0:0.0:1.0:0.0	.	372	Q86W50	MET16_HUMAN	M	372;52;154	ENSP00000263092:T372M;ENSP00000443633:T154M	ENSP00000263092:T372M	T	-	2	0	METTL16	2270588	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.447000	0.97595	2.588000	0.87417	0.655000	0.94253	ACG		0.473	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086	
GP1BA	2811	hgsc.bcm.edu	37	17	4837156	4837156	+	Silent	SNP	C	C	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr17:4837156C>A	ENST00000329125.5	+	2	1332	c.1257C>A	c.(1255-1257)ccC>ccA	p.P419P		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	419	Pro/Thr-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.E412_P424delEPTSEPAPSPTTP(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						agcccgcccccagcccgacca	0.751																																																	1	Deletion - In frame(1)	stomach(1)	17											13.0	16.0	15.0					17																	4837156		1777	4011	5788	4777936	SO:0001819	synonymous_variant	2811				CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1257C>A	17.37:g.4837156C>A			4777936	E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	ENST00000329125.5	37	CCDS54068.1																																																																																				0.751	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1		
C17orf74	201243	hgsc.bcm.edu	37	17	7329758	7329758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr17:7329758C>T	ENST00000333870.3	+	3	522	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	C17orf74_ENST00000574034.1_Intron|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	150						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GAACTACAGACAAATCCCCCA	0.592																																																	0			17											88.0	96.0	93.0					17																	7329758		1991	4160	6151	7270482	SO:0001587	stop_gained	201243			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.448C>T	17.37:g.7329758C>T	ENSP00000328061:p.Gln150*		7270482		Nonsense_Mutation	SNP	ENST00000333870.3	37	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556577	0.45487	.	.	ENSG00000184560	ENST00000333870	.	.	.	4.0	0.628	0.17681	.	2.617620	0.01695	N	0.026850	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-8.5383	9.8278	0.40923	0.5881:0.4119:0.0:0.0	.	.	.	.	X	150	.	ENSP00000328061:Q150X	Q	+	1	0	C17orf74	7270482	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.034000	0.12225	0.050000	0.15949	-0.336000	0.08194	CAA		0.592	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734	
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	17	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	7517845	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		7517845	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NF1	4763	hgsc.bcm.edu	37	17	29664408	29664408	+	Silent	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr17:29664408A>G	ENST00000358273.4	+	43	6833	c.6450A>G	c.(6448-6450)agA>agG	p.R2150R	NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank|NF1_ENST00000356175.3_Silent_p.R2129R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2150					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.R2150S(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAGTTTTGAGACTCAGTCTGA	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)	soft_tissue(8)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	17											86.0	75.0	79.0					17																	29664408		2203	4300	6503	26688534	SO:0001819	synonymous_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6450A>G	17.37:g.29664408A>G			26688534	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																				0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
TRIM25	7706	hgsc.bcm.edu	37	17	54969505	54969505	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr17:54969505C>A	ENST00000316881.4	-	9	1498	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	TRIM25_ENST00000573108.1_5'Flank|MIR3614_ENST00000581261.1_RNA|RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000537230.1_Missense_Mutation_p.E483D	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	483	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TCTGAGGCATCTCAGCCACAG	0.522																																																	0			17											68.0	69.0	69.0					17																	54969505		2203	4300	6503	52324504	SO:0001583	missense	7706			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1449G>T	17.37:g.54969505C>A	ENSP00000323889:p.Glu483Asp		52324504		Missense_Mutation	SNP	ENST00000316881.4	37	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.481649	0.01027	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.11385	2.78;2.78	4.84	-6.29	0.02013	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.635159	0.14702	N	0.303534	T	0.01695	0.0054	N	0.01134	-0.995	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.39482	-0.9612	10	0.08837	T	0.75	.	0.4776	0.00542	0.2332:0.2745:0.2231:0.2692	.	483	Q14258	TRI25_HUMAN	D	483	ENSP00000323889:E483D;ENSP00000445961:E483D	ENSP00000323889:E483D	E	-	3	2	TRIM25	52324504	0.000000	0.05858	0.001000	0.08648	0.369000	0.29798	-2.351000	0.01092	-0.722000	0.04922	-0.416000	0.06073	GAG		0.522	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082	
KIF19	124602	hgsc.bcm.edu	37	17	72341014	72341014	+	Missense_Mutation	SNP	C	C	T	rs145463528	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr17:72341014C>T	ENST00000389916.4	+	7	835	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	233	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGCGCAGCCGGGTCAAGAA	0.687													C|||	2	0.000399361	0.0	0.0	5008	,	,		16886	0.002		0.0	False		,,,				2504	0.0																0			17											30.0	32.0	31.0					17																	72341014		2200	4298	6498	69852609	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.697C>T	17.37:g.72341014C>T	ENSP00000374566:p.Arg233Trp		69852609	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	18.83	3.707819	0.68615	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75938	-0.98;-0.98	5.49	2.24	0.28232	Kinesin, motor domain (4);	.	.	.	.	T	0.81475	0.4830	M	0.87827	2.91	0.50467	D	0.999872	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.993;0.998;0.978;0.978	T	0.83109	-0.0124	9	0.87932	D	0	.	8.7635	0.34689	0.2637:0.6636:0.0:0.0727	.	233;191;191;233	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	W	191;233	ENSP00000449134:R191W;ENSP00000374566:R233W	ENSP00000374566:R233W	R	+	1	2	KIF19	69852609	1.000000	0.71417	0.967000	0.41034	0.369000	0.29798	2.745000	0.47459	0.636000	0.30508	0.556000	0.70494	CGG		0.687	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
ITSN1	6453	hgsc.bcm.edu	37	21	35237600	35237600	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr21:35237600A>C	ENST00000381318.3	+	32	4324	c.4036A>C	c.(4036-4038)Aag>Cag	p.K1346Q	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.K1341Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.K1346Q|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000437442.2_Missense_Mutation_p.K1341Q	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1346	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GATCCAGCAGAAGACGGATGA	0.597																																																	0			21											21.0	20.0	20.0					21																	35237600		2203	4298	6501	34159470	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4036A>C	21.37:g.35237600A>C	ENSP00000370719:p.Lys1346Gln		34159470	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.3|27.3	4.823225|4.823225	0.90873|0.90873	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	.|T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53981|0.53981	0.1830|0.1830	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.85130	.|0.997;0.955;0.955	T|T	0.52653|0.52653	-0.8547|-0.8547	5|10	.|0.49607	.|T	.|0.09	.|.	16.3364|16.3364	0.83064|0.83064	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1341;1341;1346	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	A|Q	81|1346;1346;1275;1341;1341	.|ENSP00000370719:K1346Q;ENSP00000370685:K1346Q;ENSP00000382301:K1341Q;ENSP00000387377:K1341Q	.|ENSP00000370685:K1346Q	E|K	+|+	2|1	0|0	ITSN1|ITSN1	34159470|34159470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.758000|8.758000	0.91663|0.91663	2.252000|2.252000	0.74401|0.74401	0.528000|0.528000	0.53228|0.53228	GAA|AAG		0.597	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
MEFV	4210	hgsc.bcm.edu	37	16	3293889	3293889	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr16:3293889G>A	ENST00000219596.1	-	9	1802	c.1763C>T	c.(1762-1764)cCg>cTg	p.P588L	MEFV_ENST00000536379.1_Missense_Mutation_p.P377L|MEFV_ENST00000541159.1_Silent_p.S435S|MEFV_ENST00000339854.4_Missense_Mutation_p.P408L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	588	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AATCAGCTCCGGAACTACGGA	0.512																																																	0			16											45.0	47.0	46.0					16																	3293889		2197	4300	6497	3233890	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1763C>T	16.37:g.3293889G>A	ENSP00000219596:p.Pro588Leu		3233890	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	1.606	-0.525162	0.04141	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.66638	-0.22;0.21;0.21	4.83	0.551	0.17225	B30.2/SPRY domain (1);	0.788758	0.11219	N	0.586891	T	0.49575	0.1565	L	0.42245	1.32	0.09310	N	0.999998	B	0.26147	0.143	B	0.06405	0.002	T	0.30592	-0.9973	10	0.31617	T	0.26	-22.9385	3.4443	0.07474	0.1912:0.0:0.4512:0.3576	.	588	O15553	MEFV_HUMAN	L	588;588;408;377	ENSP00000219596:P588L;ENSP00000339639:P408L;ENSP00000445079:P377L	ENSP00000219596:P588L	P	-	2	0	MEFV	3233890	0.886000	0.30341	0.280000	0.24747	0.022000	0.10575	1.942000	0.40243	0.307000	0.22880	-0.136000	0.14681	CCG		0.512	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
CPPED1	55313	hgsc.bcm.edu	37	16	12758911	12758911	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr16:12758911G>A	ENST00000381774.4	-	4	1017	c.777C>T	c.(775-777)ctC>ctT	p.L259L	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Silent_p.L117L	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	259						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CCACCATGTCGAGGTTCTGGT	0.572																																																	0			16											53.0	54.0	54.0					16																	12758911		1974	4174	6148	12666412	SO:0001819	synonymous_variant	55313			AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.777C>T	16.37:g.12758911G>A			12666412	B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	CCDS42120.1																																																																																				0.572	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340	
ACSM5	54988	hgsc.bcm.edu	37	16	20432711	20432711	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr16:20432711T>C	ENST00000331849.4	+	5	902	c.755T>C	c.(754-756)gTg>gCg	p.V252A		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	252					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGGGTTTTGTGGCCAGCGGA	0.587																																																	0			16											29.0	28.0	29.0					16																	20432711		2203	4299	6502	20340212	SO:0001583	missense	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.755T>C	16.37:g.20432711T>C	ENSP00000327916:p.Val252Ala		20340212	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	T	3.756	-0.050686	0.07407	.	.	ENSG00000183549	ENST00000331849	T	0.40225	1.04	4.43	2.18	0.27775	AMP-dependent synthetase/ligase (1);	0.244718	0.27720	N	0.018136	T	0.19208	0.0461	N	0.12471	0.22	0.25481	N	0.987735	B	0.02656	0.0	B	0.06405	0.002	T	0.19811	-1.0294	10	0.11794	T	0.64	-13.6763	6.9392	0.24483	0.0:0.2632:0.0:0.7368	.	252	Q6NUN0	ACSM5_HUMAN	A	252	ENSP00000327916:V252A	ENSP00000327916:V252A	V	+	2	0	ACSM5	20340212	0.000000	0.05858	1.000000	0.80357	0.926000	0.56050	-0.328000	0.07945	0.802000	0.34089	0.533000	0.62120	GTG		0.587	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888	
ZKSCAN2	342357	hgsc.bcm.edu	37	16	25251333	25251333	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr16:25251333C>A	ENST00000328086.7	-	7	3511	c.2708G>T	c.(2707-2709)cGa>cTa	p.R903L	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	903					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CCGATGTTCTCGAAATCTCGT	0.453																																																	0			16											98.0	86.0	90.0					16																	25251333		2197	4300	6497	25158834	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2708G>T	16.37:g.25251333C>A	ENSP00000331626:p.Arg903Leu		25158834	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628438	0.28978	.	.	ENSG00000155592	ENST00000328086	T	0.20738	2.05	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152246	0.31648	N	0.007294	T	0.12390	0.0301	L	0.31420	0.93	0.09310	N	1	P;P	0.47910	0.772;0.902	B;B	0.37943	0.133;0.261	T	0.22382	-1.0218	10	0.07175	T	0.84	-12.0503	12.3085	0.54915	0.0:0.8303:0.1697:0.0	.	699;903	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	L	903	ENSP00000331626:R903L	ENSP00000331626:R903L	R	-	2	0	ZKSCAN2	25158834	0.000000	0.05858	0.947000	0.38551	0.009000	0.06853	-0.642000	0.05427	2.824000	0.97209	0.655000	0.94253	CGA		0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
ITGAD	3681	hgsc.bcm.edu	37	16	31434699	31434699	+	Silent	SNP	G	G	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr16:31434699G>C	ENST00000389202.2	+	25	2935	c.2886G>C	c.(2884-2886)ctG>ctC	p.L962L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	962					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGCGAGATCTGGCCATCAGCA	0.552																																																	0			16											161.0	138.0	146.0					16																	31434699		2197	4300	6497	31342200	SO:0001819	synonymous_variant	3681			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2886G>C	16.37:g.31434699G>C			31342200	Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	CCDS32438.1																																																																																				0.552	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
SNX20	124460	hgsc.bcm.edu	37	16	50707891	50707891	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr16:50707891G>A	ENST00000330943.4	-	4	548	c.377C>T	c.(376-378)gCg>gTg	p.A126V	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	126	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTTCAGCAGCGCTTTCTGGAG	0.562																																																	0			16											81.0	73.0	76.0					16																	50707891		2198	4300	6498	49265392	SO:0001583	missense	124460			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.377C>T	16.37:g.50707891G>A	ENSP00000332062:p.Ala126Val		49265392	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	9.690	1.151584	0.21371	.	.	ENSG00000167208	ENST00000330943	T	0.39592	1.07	5.53	-7.27	0.01461	Phox homologous domain (5);	1.170640	0.05870	N	0.624431	T	0.22085	0.0532	N	0.26092	0.79	0.09310	N	1	P	0.36733	0.567	B	0.28465	0.09	T	0.13575	-1.0504	10	0.29301	T	0.29	-1.7733	9.1687	0.37067	0.0:0.4352:0.304:0.2608	.	126	Q7Z614	SNX20_HUMAN	V	126	ENSP00000332062:A126V	ENSP00000332062:A126V	A	-	2	0	SNX20	49265392	0.008000	0.16893	0.000000	0.03702	0.126000	0.20510	0.169000	0.16641	-1.682000	0.01446	0.561000	0.74099	GCG		0.562	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337	
RBL2	5934	hgsc.bcm.edu	37	16	53488674	53488674	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr16:53488674A>G	ENST00000262133.6	+	8	1236	c.1099A>G	c.(1099-1101)Agg>Ggg	p.R367G	RBL2_ENST00000544545.1_Missense_Mutation_p.R151G|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	367					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GACTCTCTCAAGGTGTCTGAA	0.443																																																	0			16											113.0	110.0	111.0					16																	53488674		2198	4300	6498	52046175	SO:0001583	missense	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1099A>G	16.37:g.53488674A>G	ENSP00000262133:p.Arg367Gly		52046175	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.085702	0.36758	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.89552	-2.53;-2.12;-1.85	5.5	4.23	0.50019	.	0.168455	0.51477	D	0.000097	D	0.85221	0.5647	L	0.57536	1.79	0.09310	N	0.999992	B;P;P;P	0.48764	0.001;0.761;0.65;0.915	B;B;B;B	0.36922	0.003;0.191;0.191;0.236	T	0.77496	-0.2566	10	0.72032	D	0.01	-9.1175	13.3417	0.60549	0.4993:0.5007:0.0:0.0	.	151;367;77;367	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	G	367;293;77;151	ENSP00000262133:R367G;ENSP00000443744:R293G;ENSP00000444685:R151G	ENSP00000262133:R367G	R	+	1	2	RBL2	52046175	0.718000	0.27976	0.723000	0.30687	0.932000	0.56968	1.339000	0.33885	0.696000	0.31696	0.454000	0.30748	AGG		0.443	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
CDH11	1009	hgsc.bcm.edu	37	16	64984824	64984824	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr16:64984824C>T	ENST00000268603.4	-	12	2355	c.1740G>A	c.(1738-1740)ccG>ccA	p.P580P	CDH11_ENST00000394156.3_Silent_p.P580P|CDH11_ENST00000566827.1_Silent_p.P454P	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	580	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TACTCATGGGCGGGATGCCGC	0.602			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0			16											105.0	89.0	94.0					16																	64984824		2203	4300	6503	63542325	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1740G>A	16.37:g.64984824C>T			63542325	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	CCDS10803.1																																																																																				0.602	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
FANCA	2175	hgsc.bcm.edu	37	16	89849483	89849483	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr16:89849483G>A	ENST00000389301.3	-	16	1528	c.1498C>T	c.(1498-1500)Ccc>Tcc	p.P500S	FANCA_ENST00000568369.1_Missense_Mutation_p.P500S	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	500					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P500A(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TACTTGCCGGGAACCAGGGGT	0.597			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	1	Substitution - Missense(1)	ovary(1)	16											178.0	137.0	151.0					16																	89849483		2198	4300	6498	88376984	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1498C>T	16.37:g.89849483G>A	ENSP00000373952:p.Pro500Ser		88376984	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793253	0.50102	.	.	ENSG00000187741	ENST00000389301	D	0.86230	-2.09	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000007	D	0.92512	0.7622	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91766	0.5424	10	0.44086	T	0.13	-25.2563	18.4531	0.90711	0.0:0.0:1.0:0.0	.	500;500	B4DRI7;O15360	.;FANCA_HUMAN	S	500	ENSP00000373952:P500S	ENSP00000373952:P500S	P	-	1	0	FANCA	88376984	1.000000	0.71417	0.140000	0.22221	0.043000	0.13939	5.001000	0.63946	2.599000	0.87857	0.555000	0.69702	CCC		0.597	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		
MTCL1	23255	hgsc.bcm.edu	37	18	8824820	8824820	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr18:8824820C>T	ENST00000306329.11	+	13	4269	c.4269C>T	c.(4267-4269)gaC>gaT	p.D1423D	SOGA2_ENST00000517570.1_Silent_p.D1063D|SOGA2_ENST00000359865.3_Silent_p.D1104D|SOGA2_ENST00000306285.7_Silent_p.D429D|SOGA2_ENST00000400050.3_Silent_p.D1063D|SOGA2_ENST00000518815.1_Silent_p.D429D														p.D1104D(1)									TGTCTCCAGACGACCTCAAGT	0.612																																																	1	Substitution - coding silent(1)	prostate(1)	18											79.0	68.0	72.0					18																	8824820		2203	4300	6503	8814820	SO:0001819	synonymous_variant	23255																														ENST00000306329.11:c.4269C>T	18.37:g.8824820C>T			8814820		Silent	SNP	ENST00000306329.11	37																																																																																					0.612	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
KCTD1	284252	hgsc.bcm.edu	37	18	24035775	24035775	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr18:24035775G>A	ENST00000408011.3	-	5	1265	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	KCTD1_ENST00000317932.7_Missense_Mutation_p.R236W|KCTD1_ENST00000417602.1_Missense_Mutation_p.R844W|KCTD1_ENST00000580059.1_Missense_Mutation_p.R236W|KCTD1_ENST00000579973.1_Missense_Mutation_p.R236W	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	236					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			AGTTCCCGCCGAAGGACGTAT	0.537																																																	0			18											84.0	83.0	83.0					18																	24035775		2203	4300	6503	22289773	SO:0001583	missense	284252			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.706C>T	18.37:g.24035775G>A	ENSP00000384367:p.Arg236Trp		22289773	A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331034	0.60853	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.78364	-0.76;-1.17;-0.76	5.98	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	N	0.22421	0.69	0.58432	D	0.999999	D	0.54207	0.965	P	0.46452	0.517	T	0.67837	-0.5567	10	0.38643	T	0.18	.	11.7396	0.51786	0.0:0.0:0.6243:0.3757	.	236	Q719H9	KCTD1_HUMAN	W	236;844;236	ENSP00000314831:R236W;ENSP00000408405:R844W;ENSP00000384367:R236W	ENSP00000314831:R236W	R	-	1	2	KCTD1	22289773	0.998000	0.40836	0.999000	0.59377	0.934000	0.57294	1.569000	0.36428	2.837000	0.97791	0.591000	0.81541	CGG		0.537	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091	
SLC14A2	8170	hgsc.bcm.edu	37	18	43253775	43253775	+	Silent	SNP	C	C	T	rs139049054		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr18:43253775C>T	ENST00000255226.6	+	18	3321	c.2505C>T	c.(2503-2505)atC>atT	p.I835I	SLC14A2_ENST00000586448.1_Silent_p.I835I|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Silent_p.I312I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	835					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTCGCCATCGCCTGCGGTA	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		4049	0.0		0.0	False		,,,				2504	0.0																0			18						C	,	3,4403	6.2+/-15.9	0,3,2200	87.0	73.0	78.0		2505,2505	-4.3	0.8	18	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC14A2	NM_001242692.1,NM_007163.3	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	835/921,835/921	43253775	3,13003	2203	4300	6503	41507773	SO:0001819	synonymous_variant	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2505C>T	18.37:g.43253775C>T			41507773	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																				0.443	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
STARD6	147323	hgsc.bcm.edu	37	18	51851219	51851219	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr18:51851219A>G	ENST00000581310.1	-	9	879	c.506T>C	c.(505-507)aTg>aCg	p.M169T	STARD6_ENST00000307844.3_Missense_Mutation_p.M169T|STARD6_ENST00000580990.2_Missense_Mutation_p.M45T			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	169	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.M169T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CTGGACAAACATCACTAGTTT	0.333																																																	1	Substitution - Missense(1)	ovary(1)	18											114.0	111.0	112.0					18																	51851219		2202	4300	6502	50105217	SO:0001583	missense	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.506T>C	18.37:g.51851219A>G	ENSP00000462349:p.Met169Thr		50105217		Missense_Mutation	SNP	ENST00000581310.1	37	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438064	0.25900	.	.	ENSG00000174448	ENST00000307844	T	0.78595	-1.19	5.53	5.53	0.82687	Lipid-binding START (3);START-like domain (1);	0.350903	0.29515	N	0.011932	T	0.66327	0.2778	L	0.27053	0.805	0.28573	N	0.910505	P	0.37914	0.611	B	0.37731	0.257	T	0.63225	-0.6685	10	0.32370	T	0.25	.	12.0438	0.53469	1.0:0.0:0.0:0.0	.	169	P59095	STAR6_HUMAN	T	169	ENSP00000310814:M169T	ENSP00000310814:M169T	M	-	2	0	STARD6	50105217	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.927000	0.63440	2.090000	0.63153	0.338000	0.21704	ATG		0.333	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171	
IL17RC	84818	hgsc.bcm.edu	37	3	9970121	9970121	+	Missense_Mutation	SNP	C	C	T	rs115419420	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr3:9970121C>T	ENST00000295981.3	+	11	1441	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.P322L|IL17RC_ENST00000383812.4_Missense_Mutation_p.P322L|IL17RC_ENST00000413608.1_Missense_Mutation_p.P337L|IL17RC_ENST00000416074.2_Missense_Mutation_p.P193L|IL17RC_ENST00000403601.3_Missense_Mutation_p.P337L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	408					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGTGGGGACCCCTGCCAGCCA	0.682													C|||	77	0.0153754	0.0174	0.0173	5008	,	,		14342	0.0		0.0398	False		,,,				2504	0.002																0			3						C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	123,4283	81.4+/-119.9	1,121,2081	34.0	42.0	39.0		1010,1010,965,965,1010,1223	2.7	1.0	3	dbSNP_132	39	324,8276	108.2+/-168.9	6,312,3982	yes	missense,missense,missense,missense,missense,missense	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	98,98,98,98,98,98	7,433,6063	TT,TC,CC		3.7674,2.7916,3.4369	benign,benign,benign,benign,benign,benign	337/708,337/691,322/689,322/706,337/721,408/792	9970121	447,12559	2203	4300	6503	9945121	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1223C>T	3.37:g.9970121C>T	ENSP00000295981:p.Pro408Leu		9945121	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	51	0.023351648351648352	8	0.016260162601626018	5	0.013812154696132596	0	0.0	38	0.05013192612137203	C	9.485	1.099131	0.20552	0.027916	0.037674	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	4.96	2.73	0.32206	.	0.270585	0.26812	N	0.022371	T	0.01061	0.0035	L	0.39633	1.23	0.41034	D	0.985174	B;B;B;B;B;B;B;P;B	0.43094	0.015;0.016;0.009;0.009;0.016;0.016;0.015;0.799;0.009	B;B;B;B;B;B;B;B;B	0.38562	0.016;0.013;0.007;0.007;0.01;0.01;0.016;0.276;0.02	T	0.28522	-1.0041	10	0.02654	T	1	-17.4595	5.5033	0.16840	0.0:0.7134:0.0:0.2866	.	322;193;322;337;337;337;322;408;337	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	L	322;297;408;312;337;193;322;337	ENSP00000373323:P322L;ENSP00000414609:P297L;ENSP00000295981:P408L;ENSP00000401128:P312L;ENSP00000384969:P337L;ENSP00000395315:P193L;ENSP00000407894:P322L;ENSP00000396064:P337L	ENSP00000295981:P408L	P	+	2	0	IL17RC	9945121	0.941000	0.31946	0.992000	0.48379	0.108000	0.19459	0.855000	0.27805	1.222000	0.43521	0.549000	0.68633	CCC		0.682	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266159	41266159	+	Silent	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr3:41266159T>C	ENST00000349496.5	+	3	436	c.156T>C	c.(154-156)ccT>ccC	p.P52P	CTNNB1_ENST00000396185.3_Silent_p.P52P|CTNNB1_ENST00000453024.1_Silent_p.P45P|CTNNB1_ENST00000405570.1_Silent_p.P52P|CTNNB1_ENST00000396183.3_Silent_p.P52P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	52					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.Q28_Q61del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AAGGCAATCCTGAGGAAGAGG	0.478		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	111	Deletion - In frame(88)|Complex - deletion inframe(16)|Unknown(7)	liver(82)|large_intestine(16)|stomach(7)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	3											74.0	68.0	70.0					3																	41266159		2203	4300	6503	41241163	SO:0001819	synonymous_variant	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.156T>C	3.37:g.41266159T>C			41241163	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	CCDS2694.1																																																																																				0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
GPR15	2838	hgsc.bcm.edu	37	3	98251220	98251220	+	Missense_Mutation	SNP	G	G	A	rs189514169		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr3:98251220G>A	ENST00000284311.3	+	1	478	c.343G>A	c.(343-345)Gtc>Atc	p.V115I		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	115					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CATGATCTCCGTCAATATGCA	0.512													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21318	0.0		0.0	False		,,,				2504	0.0																0			3						G	ILE/VAL	0,4406		0,0,2203	79.0	74.0	76.0		343	4.0	0.9	3		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GPR15	NM_005290.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	115/361	98251220	1,13005	2203	4300	6503	99733910	SO:0001583	missense	2838				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.343G>A	3.37:g.98251220G>A	ENSP00000284311:p.Val115Ile		99733910	Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	CCDS2931.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.3	3.970768	0.74246	0.0	1.16E-4	ENSG00000154165	ENST00000284311	T	0.72835	-0.69	4.83	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000303	T	0.77532	0.4144	L	0.48260	1.515	0.41665	D	0.989207	D	0.89917	1.0	D	0.79108	0.992	T	0.78858	-0.2038	10	0.62326	D	0.03	-26.6571	11.0385	0.47816	0.0909:0.0:0.9091:0.0	.	115	P49685	GPR15_HUMAN	I	115	ENSP00000284311:V115I	ENSP00000284311:V115I	V	+	1	0	GPR15	99733910	1.000000	0.71417	0.887000	0.34795	0.944000	0.59088	5.267000	0.65530	1.410000	0.46936	0.591000	0.81541	GTC		0.512	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1		
PLXNA1	5361	hgsc.bcm.edu	37	3	126751257	126751257	+	Silent	SNP	G	G	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr3:126751257G>T	ENST00000393409.2	+	29	5259	c.5259G>T	c.(5257-5259)gtG>gtT	p.V1753V	PLXNA1_ENST00000251772.4_Silent_p.V1730V|PLXNA1_ENST00000505278.1_3'UTR	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1753					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGGTGAACGTGATCAAGAACC	0.602																																																	0			3											116.0	106.0	109.0					3																	126751257		2203	4300	6503	128233947	SO:0001819	synonymous_variant	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5259G>T	3.37:g.126751257G>T			128233947		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																				0.602	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	
CLSTN2	64084	hgsc.bcm.edu	37	3	140277686	140277686	+	Silent	SNP	C	C	T	rs144701273	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr3:140277686C>T	ENST00000458420.3	+	12	2218	c.2028C>T	c.(2026-2028)gaC>gaT	p.D676D		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	676					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.D676D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCCCCGGGGACGTGAAAACCA	0.498										HNSCC(16;0.037)			C|||	10	0.00199681	0.0053	0.0014	5008	,	,		19045	0.0		0.0	False		,,,				2504	0.002				GBM(45;858 913 3709 36904 37282)												1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	3						C		19,4387	25.3+/-52.1	0,19,2184	39.0	43.0	42.0		2028	-3.0	0.0	3	dbSNP_134	42	0,8600		0,0,4300	no	coding-synonymous	CLSTN2	NM_022131.2		0,19,6484	TT,TC,CC		0.0,0.4312,0.1461		676/956	140277686	19,12987	2203	4300	6503	141760376	SO:0001819	synonymous_variant	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2028C>T	3.37:g.140277686C>T			141760376	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	CCDS3112.1																																																																																				0.498	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
PIK3CA	5290	hgsc.bcm.edu	37	3	178916725	178916725	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr3:178916725C>T	ENST00000263967.3	+	2	269	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	38	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> H (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R38G(1)|p.R38S(1)|p.R38C(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGAATGCCTCCGTGAGGCTAC	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	3	Substitution - Missense(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)	3											76.0	74.0	75.0					3																	178916725		1845	4085	5930	180399419	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.112C>T	3.37:g.178916725C>T	ENSP00000263967:p.Arg38Cys		180399419	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909863	0.72983	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.73363	-0.74;-0.74	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84019	0.5380	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82665	-0.0345	9	.	.	.	-9.214	19.2635	0.93977	0.0:1.0:0.0:0.0	.	38	P42336	PK3CA_HUMAN	C	38	ENSP00000263967:R38C;ENSP00000417479:R38C	.	R	+	1	0	PIK3CA	180399419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.642000	0.67888	2.547000	0.85894	0.555000	0.69702	CGT		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178921450	178921450	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr3:178921450T>C	ENST00000263967.3	+	5	1089	c.932T>C	c.(931-933)aTt>aCt	p.I311T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	311					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCAGACGCATTTCCACAGCT	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0			3											116.0	112.0	113.0					3																	178921450		1868	4100	5968	180404144	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.932T>C	3.37:g.178921450T>C	ENSP00000263967:p.Ile311Thr		180404144	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574499	0.28092	.	.	ENSG00000121879	ENST00000263967	T	0.71579	-0.58	5.25	5.25	0.73442	.	0.076087	0.64402	D	0.000002	T	0.50497	0.1619	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46857	-0.9161	10	0.17832	T	0.49	-10.2287	15.4533	0.75294	0.0:0.0:0.0:1.0	.	311	P42336	PK3CA_HUMAN	T	311	ENSP00000263967:I311T	ENSP00000263967:I311T	I	+	2	0	PIK3CA	180404144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.571000	0.82399	2.120000	0.65058	0.383000	0.25322	ATT		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	53	Substitution - Missense(53)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	3											61.0	61.0	61.0					3																	178936095		1813	4072	5885	180418789	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg		180418789	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PZP	5858	hgsc.bcm.edu	37	12	9354931	9354931	+	Missense_Mutation	SNP	C	C	T	rs369009345		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:9354931C>T	ENST00000261336.2	-	4	492	c.464G>A	c.(463-465)cGc>cAc	p.R155H	PZP_ENST00000381997.2_Missense_Mutation_p.R24H	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	155					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATTTCGAGGGCGAAAATTTTC	0.428																																					Melanoma(125;1402 1695 4685 34487 38571)												0			12						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	80.0	84.0		464	-3.7	0.0	12		84	0,8600		0,0,4300	no	missense	PZP	NM_002864.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	155/1483	9354931	1,13005	2203	4300	6503	9246198	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.464G>A	12.37:g.9354931C>T	ENSP00000261336:p.Arg155His		9246198	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	0.071	-1.202722	0.01581	2.27E-4	0.0	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.74421	-0.84;-0.84	2.44	-3.66	0.04489	Alpha-2-macroglobulin, N-terminal (1);	0.847105	0.09858	N	0.746585	T	0.42562	0.1208	N	0.05414	-0.055	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.12837	0.008;0.004	T	0.38650	-0.9651	10	0.05833	T	0.94	.	4.19	0.10416	0.0:0.4492:0.2195:0.3313	.	24;155	P20742-2;P20742	.;PZP_HUMAN	H	155;24	ENSP00000261336:R155H;ENSP00000371427:R24H	ENSP00000261336:R155H	R	-	2	0	PZP	9246198	0.000000	0.05858	0.012000	0.15200	0.492000	0.33523	-1.934000	0.01552	-0.756000	0.04703	-0.691000	0.03719	CGC		0.428	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
KLRF1	51348	hgsc.bcm.edu	37	12	9985930	9985930	+	Silent	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:9985930A>G	ENST00000279544.3	+	3	280	c.216A>G	c.(214-216)aaA>aaG	p.K72K	KLRF1_ENST00000537723.1_Silent_p.K72K|KLRF1_ENST00000324214.4_Intron|KLRF1_ENST00000354855.3_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	72					cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						AATGCCAAAAAGGAAGTTGTT	0.358																																																	0			12											109.0	104.0	105.0					12																	9985930		1859	4098	5957	9877197	SO:0001819	synonymous_variant	51348			AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.216A>G	12.37:g.9985930A>G			9877197	Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Silent	SNP	ENST00000279544.3	37	CCDS41750.1																																																																																				0.358	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523	
LRP6	4040	hgsc.bcm.edu	37	12	12311913	12311913	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:12311913C>T	ENST00000261349.4	-	12	2717	c.2641G>A	c.(2641-2643)Gtc>Atc	p.V881I	LRP6_ENST00000543091.1_Missense_Mutation_p.V881I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	881	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V881L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GAGTGAAAGACGAGGATGTCC	0.537																																																	1	Substitution - Missense(1)	central_nervous_system(1)	12											226.0	159.0	181.0					12																	12311913		2203	4300	6503	12203180	SO:0001583	missense	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2641G>A	12.37:g.12311913C>T	ENSP00000261349:p.Val881Ile		12203180	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106476	0.94292	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91351	-2.83;-2.83	6.02	6.02	0.97574	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.53938	D	0.000042	D	0.92941	0.7754	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.984;0.999	D;D	0.76575	0.973;0.988	D	0.88959	0.3392	10	0.15499	T	0.54	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	881;881	F5H7J9;O75581	.;LRP6_HUMAN	I	881	ENSP00000261349:V881I;ENSP00000442472:V881I	ENSP00000261349:V881I	V	-	1	0	LRP6	12203180	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	GTC		0.537	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
KRAS	3845	hgsc.bcm.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	153	Substitution - Missense(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	12											109.0	98.0	102.0					12																	25380275		2203	4300	6503	25271542	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>C	12.37:g.25380275T>G	ENSP00000256078:p.Gln61His		25271542	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
ARID2	196528	hgsc.bcm.edu	37	12	46244264	46244264	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:46244264C>T	ENST00000334344.6	+	15	2530	c.2358C>T	c.(2356-2358)ggC>ggT	p.G786G	ARID2_ENST00000444670.1_Silent_p.G396G|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.G637G|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	786					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCCTTCAGGCACTCCTGTTA	0.448			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0			12											88.0	77.0	81.0					12																	46244264		2203	4300	6503	44530531	SO:0001819	synonymous_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2358C>T	12.37:g.46244264C>T			44530531	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	CCDS31783.1																																																																																				0.448	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
CERS5	91012	hgsc.bcm.edu	37	12	50536911	50536911	+	Missense_Mutation	SNP	C	C	T	rs547919626	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:50536911C>T	ENST00000317551.6	-	3	504	c.380G>A	c.(379-381)cGc>cAc	p.R127H	CERS5_ENST00000422340.2_Missense_Mutation_p.R69H	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	127					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCTCCGATGGCGAAACCAGCA	0.483													C|||	3	0.000599042	0.0	0.0	5008	,	,		19728	0.003		0.0	False		,,,				2504	0.0																0			12											214.0	222.0	219.0					12																	50536911		2203	4300	6503	48823178	SO:0001583	missense	91012				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.380G>A	12.37:g.50536911C>T	ENSP00000325485:p.Arg127His		48823178	B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	CCDS8801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.513457|5.513457	0.96402|0.96402	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000547800|ENST00000551005;ENST00000317551;ENST00000422340	.|D;D;D	.|0.96041	.|-3.89;-3.89;-3.89	4.52|4.52	4.52|4.52	0.55395|0.55395	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97892|0.97892	0.9307|0.9307	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.986;0.999	.|D;P;P	.|0.97110	.|1.0;0.771;0.886	D|D	0.98113|0.98113	1.0421|1.0421	6|10	0.22109|0.51188	T|T	0.4|0.08	-8.9486|-8.9486	17.8139|17.8139	0.88625|0.88625	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|69;127;46	.|B4DV54;Q8N5B7;F8W0U5	.|.;CERS5_HUMAN;.	T|H	62|46;127;69	.|ENSP00000447556:R46H;ENSP00000325485:R127H;ENSP00000389050:R69H	ENSP00000407896:A92T|ENSP00000325485:R127H	A|R	-|-	1|2	0|0	CERS5|CERS5	48823178|48823178	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.625000|7.625000	0.83145|0.83145	2.514000|2.514000	0.84764|0.84764	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.483	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190	
SCN8A	6334	hgsc.bcm.edu	37	12	52162736	52162736	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:52162736C>A	ENST00000354534.6	+	17	3167	c.2989C>A	c.(2989-2991)Ctc>Atc	p.L997I	SCN8A_ENST00000545061.1_Missense_Mutation_p.L997I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	997					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AATGAACAACCTCCAGATCTC	0.537																																																	0			12											94.0	93.0	93.0					12																	52162736		2045	4206	6251	50449003	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2989C>A	12.37:g.52162736C>A	ENSP00000346534:p.Leu997Ile		50449003	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678849	0.68042	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.87650	-2.28;-2.28;-2.28	4.66	3.74	0.42951	Sodium ion transport-associated (1);	0.152963	0.44097	D	0.000496	D	0.91700	0.7376	M	0.83118	2.625	0.58432	D	0.999999	D;D	0.69078	0.997;0.99	D;P	0.63877	0.919;0.874	D	0.90325	0.4347	10	0.31617	T	0.26	.	10.4679	0.44618	0.0:0.8339:0.0:0.1661	.	997;997	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	I	997;997;997;910	ENSP00000346534:L997I;ENSP00000440360:L997I;ENSP00000347255:L997I	ENSP00000346534:L997I	L	+	1	0	SCN8A	50449003	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	3.925000	0.56484	1.502000	0.48669	0.563000	0.77884	CTC		0.537	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
KRT4	3851	hgsc.bcm.edu	37	12	53207582	53207582	+	Silent	SNP	A	A	G	rs74445207	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:53207582A>G	ENST00000551956.1	-	1	753	c.261T>C	c.(259-261)ggT>ggC	p.G87G	KRT4_ENST00000293774.4_Silent_p.G161G|KRT4_ENST00000458244.2_Silent_p.G67G			P19013	K2C4_HUMAN	keratin 4	87	Gly-rich.|Head.		Missing (in allele K4B). {ECO:0000269|PubMed:16541075, ECO:0000269|PubMed:7684424}.		cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCCCAAATCCACCACCAAAGC	0.607																																					Pancreas(190;284 2995 41444 45903)												0			12											43.0	58.0	53.0					12																	53207582		2119	4255	6374	51493849	SO:0001819	synonymous_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.261T>C	12.37:g.53207582A>G			51493849	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																				0.607	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
OR6C1	390321	hgsc.bcm.edu	37	12	55714819	55714819	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:55714819T>C	ENST00000379668.2	+	1	474	c.436T>C	c.(436-438)Tct>Cct	p.S146P		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTTTTTACTTCTTGGCTGGT	0.408																																																	0			12											45.0	43.0	43.0					12																	55714819		2203	4300	6503	54001086	SO:0001583	missense	390321			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.436T>C	12.37:g.55714819T>C	ENSP00000368990:p.Ser146Pro		54001086	B2RNM0	Missense_Mutation	SNP	ENST00000379668.2	37	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	t	13.72	2.320298	0.41096	.	.	ENSG00000205330	ENST00000379668	T	0.38887	1.11	4.62	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000047	T	0.60011	0.2236	M	0.73753	2.245	0.09310	N	1	D	0.53745	0.962	D	0.69142	0.962	T	0.51718	-0.8670	10	0.52906	T	0.07	.	10.0589	0.42261	0.0:0.0:0.4769:0.5231	.	146	Q96RD1	OR6C1_HUMAN	P	146	ENSP00000368990:S146P	ENSP00000368990:S146P	S	+	1	0	OR6C1	54001086	0.000000	0.05858	0.007000	0.13788	0.697000	0.40408	0.413000	0.21148	0.766000	0.33244	0.374000	0.22700	TCT		0.408	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182	
LRIG3	121227	hgsc.bcm.edu	37	12	59271440	59271440	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:59271440T>A	ENST00000320743.3	-	15	2564	c.2278A>T	c.(2278-2280)Agt>Tgt	p.S760C	LRIG3_ENST00000379141.4_Missense_Mutation_p.S700C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	760	Ig-like C2-type 3.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCAGCATCACTGACATCTGAG	0.498			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0			12											179.0	167.0	171.0					12																	59271440		2203	4300	6503	57557707	SO:0001583	missense	121227			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2278A>T	12.37:g.59271440T>A	ENSP00000326759:p.Ser760Cys		57557707	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.070454	0.55539	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.39056	1.1;1.1	5.59	1.65	0.23941	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165643	0.28706	N	0.014410	T	0.61565	0.2357	M	0.92367	3.3	0.24923	N	0.991961	D;D	0.60160	0.98;0.987	P;P	0.58013	0.831;0.75	T	0.55554	-0.8123	9	.	.	.	.	6.3634	0.21441	0.0:0.5334:0.0:0.4666	.	700;760	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	C	700;760	ENSP00000368436:S700C;ENSP00000326759:S760C	.	S	-	1	0	LRIG3	57557707	0.995000	0.38212	0.553000	0.28255	0.323000	0.28346	4.960000	0.63673	0.502000	0.28037	0.533000	0.62120	AGT		0.498	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
OTOGL	283310	hgsc.bcm.edu	37	12	80663931	80663931	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:80663931G>C	ENST00000547103.1	+	22	2494	c.2488G>C	c.(2488-2490)Gct>Cct	p.A830P	OTOGL_ENST00000458043.2_Missense_Mutation_p.A830P			Q3ZCN5	OTOGL_HUMAN	otogelin-like	830					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AACGCCCTCTGCTGGTAAGAT	0.393											OREG0011204|OREG0022007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																																					0			12											94.0	92.0	92.0					12																	80663931		1935	4130	6065	79188062	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2488G>C	12.37:g.80663931G>C	ENSP00000447211:p.Ala830Pro	1200	79188062	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	G	13.22	2.171707	0.38315	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.16324	2.35;2.35	5.22	-2.25	0.06888	.	.	.	.	.	T	0.04272	0.0118	N	0.01146	-0.985	0.26190	N	0.979591	.	.	.	.	.	.	T	0.40059	-0.9583	7	0.26408	T	0.33	.	5.5944	0.17319	0.2351:0.3366:0.4283:0.0	.	.	.	.	P	830	ENSP00000447211:A830P;ENSP00000400895:A830P	ENSP00000400895:A830P	A	+	1	0	OTOGL	79188062	0.997000	0.39634	0.994000	0.49952	0.969000	0.65631	0.298000	0.19120	-0.199000	0.10317	-0.312000	0.09012	GCT		0.393	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	
LRRIQ1	84125	hgsc.bcm.edu	37	12	85450452	85450452	+	Silent	SNP	C	C	T	rs550886780	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:85450452C>T	ENST00000393217.2	+	8	1942	c.1881C>T	c.(1879-1881)aaC>aaT	p.N627N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	627										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAAGAGAAAACGTAATATTAC	0.284													C|||	6	0.00119808	0.0	0.0	5008	,	,		17342	0.0		0.0	False		,,,				2504	0.0061																0			12											29.0	31.0	30.0					12																	85450452		2197	4295	6492	83974583	SO:0001819	synonymous_variant	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1881C>T	12.37:g.85450452C>T			83974583	Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	CCDS41816.1																																																																																				0.284	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
UNG	7374	hgsc.bcm.edu	37	12	109536404	109536404	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:109536404G>A	ENST00000242576.2	+	2	406	c.300G>A	c.(298-300)aaG>aaA	p.K100K	UNG_ENST00000336865.2_Silent_p.K91K	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GCTGGAAGAAGCACCTCAGCG	0.572								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																								0			12											43.0	50.0	48.0					12																	109536404		2200	4289	6489	108020787	SO:0001819	synonymous_variant	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.300G>A	12.37:g.109536404G>A			108020787		Silent	SNP	ENST00000242576.2	37	CCDS9124.1																																																																																				0.572	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	NM_080911	
OAS3	4940	hgsc.bcm.edu	37	12	113403675	113403675	+	Nonsense_Mutation	SNP	C	C	T	rs61942233	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:113403675C>T	ENST00000228928.7	+	12	2709	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	844	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTCCGAGATCCGAGCCCAGCT	0.587													C|||	26	0.00519169	0.0015	0.0058	5008	,	,		21143	0.0		0.0109	False		,,,				2504	0.0092																0			12						C	stop/ARG	18,3980		0,18,1981	33.0	38.0	36.0		2530	3.2	0.9	12	dbSNP_129	36	141,8229		4,133,4048	yes	stop-gained	OAS3	NM_006187.2		4,151,6029	TT,TC,CC		1.6846,0.4502,1.2856		844/1088	113403675	159,12209	1999	4185	6184	111888058	SO:0001587	stop_gained	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2530C>T	12.37:g.113403675C>T	ENSP00000228928:p.Arg844*		111888058	Q2HJ14|Q9H3P5	Nonsense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	14	0.00641025641025641	2	0.0040650406504065045	4	0.011049723756906077	0	0.0	8	0.010554089709762533	C	38	7.264510	0.98171	0.004502	0.016846	ENSG00000111331	ENST00000228928;ENST00000323881	.	.	.	5.16	3.16	0.36331	.	0.615122	0.12178	U	0.492349	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7356	0.40386	0.377:0.623:0.0:0.0	rs61942233	.	.	.	X	844;843	.	ENSP00000228928:R844X	R	+	1	2	OAS3	111888058	0.003000	0.15002	0.854000	0.33618	0.178000	0.23041	0.025000	0.13577	1.126000	0.42016	0.655000	0.94253	CGA		0.587	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1		
C12orf43	64897	hgsc.bcm.edu	37	12	121454184	121454184	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:121454184G>A	ENST00000288757.3	-	1	116	c.94C>T	c.(94-96)Ccg>Tcg	p.P32S	C12orf43_ENST00000445832.3_Missense_Mutation_p.P2S|C12orf43_ENST00000539736.1_Missense_Mutation_p.P32S|C12orf43_ENST00000537817.1_Missense_Mutation_p.P2S|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000536407.2_Missense_Mutation_p.P32S	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	32										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCCAAGCCGGCATTGCCGCC	0.637																																																	0			12											39.0	39.0	39.0					12																	121454184		2203	4300	6503	119938567	SO:0001583	missense	64897			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.94C>T	12.37:g.121454184G>A	ENSP00000288757:p.Pro32Ser		119938567	Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.47|12.47	1.947255|1.947255	0.34377|0.34377	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000536407|ENST00000445832;ENST00000288757;ENST00000537817;ENST00000539736;ENST00000538296	.|T;T;T;T;T	.|0.71461	.|0.19;0.83;-0.42;0.81;-0.57	5.06|5.06	4.18|4.18	0.49190|0.49190	.|.	.|0.350255	.|0.28349	.|N	.|0.015671	T|T	0.74366|0.74366	0.3707|0.3707	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|B;D;B;P	.|0.63046	.|0.221;0.992;0.221;0.947	.|B;P;B;P	.|0.56865	.|0.15;0.808;0.15;0.676	T|T	0.74822|0.74822	-0.3534|-0.3534	5|10	.|0.51188	.|T	.|0.08	-12.8822|-12.8822	9.5491|9.5491	0.39299|0.39299	0.0955:0.0:0.9045:0.0|0.0955:0.0:0.9045:0.0	.|.	.|32;2;32;32	.|G5EA44;F5H7W8;B4DWJ9;Q96C57	.|.;.;.;CL043_HUMAN	V|S	36|2;32;2;32;2	.|ENSP00000409788:P2S;ENSP00000288757:P32S;ENSP00000442224:P2S;ENSP00000437803:P32S;ENSP00000442041:P2S	.|ENSP00000288757:P32S	A|P	-|-	2|1	0|0	C12orf43|C12orf43	119938567|119938567	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.022000|0.022000	0.10575|0.10575	2.996000|2.996000	0.49449|0.49449	1.494000|1.494000	0.48533|0.48533	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.637	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895	
ABCB9	23457	hgsc.bcm.edu	37	12	123430600	123430600	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:123430600G>A	ENST00000542678.1	-	6	4061	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	ABCB9_ENST00000541983.1_5'Flank|ABCB9_ENST00000344275.7_Missense_Mutation_p.A408V|ABCB9_ENST00000442028.2_Missense_Mutation_p.A408V|ABCB9_ENST00000540285.1_Missense_Mutation_p.A408V|ABCB9_ENST00000346530.5_Missense_Mutation_p.A408V|ABCB9_ENST00000392439.3_Missense_Mutation_p.A408V|ABCB9_ENST00000280560.8_Missense_Mutation_p.A408V|ABCB9_ENST00000442833.2_Missense_Mutation_p.A408V			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	408	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GTACATGTAGGCAGCTGCCTC	0.602																																					Ovarian(49;786 1333 9175 38236)												0			12											88.0	65.0	73.0					12																	123430600		2203	4300	6503	121996553	SO:0001583	missense	23457			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1223C>T	12.37:g.123430600G>A	ENSP00000440288:p.Ala408Val		121996553	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407787	0.62399	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000542448;ENST00000540971;ENST00000536976;ENST00000546077	D;D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.0	5.0	0.66597	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.88190	0.6370	L	0.31752	0.955	0.80722	D	1	P;D;P;P;P	0.54397	0.597;0.966;0.587;0.532;0.95	B;P;B;B;P	0.55303	0.401;0.747;0.326;0.155;0.773	D	0.85132	0.0975	10	0.15066	T	0.55	-36.1287	17.9177	0.88957	0.0:0.0:1.0:0.0	.	408;408;190;408;408	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	V	408;408;408;408;408;408;34;114;170;65	ENSP00000280560:A408V;ENSP00000441734:A408V;ENSP00000280559:A408V;ENSP00000376234:A408V;ENSP00000440288:A408V;ENSP00000394898:A408V;ENSP00000440244:A34V;ENSP00000441086:A114V;ENSP00000443433:A170V;ENSP00000443224:A65V	ENSP00000280560:A408V	A	-	2	0	ABCB9	121996553	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	9.828000	0.99408	2.309000	0.77851	0.561000	0.74099	GCC		0.602	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624	
ULK1	8408	hgsc.bcm.edu	37	12	132400633	132400633	+	Missense_Mutation	SNP	C	C	T	rs142452051		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr12:132400633C>T	ENST00000321867.4	+	19	2158	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	603					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCGGAACCTGCGGGGCTCACC	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		14441	0.0		0.0	False		,,,				2504	0.001																0			12						C	TRP/ARG	2,4398	4.2+/-10.8	0,2,2198	27.0	32.0	31.0		1807	4.7	1.0	12	dbSNP_134	31	1,8587	1.2+/-3.3	0,1,4293	no	missense	ULK1	NM_003565.2	101	0,3,6491	TT,TC,CC		0.0116,0.0455,0.0231	probably-damaging	603/1051	132400633	3,12985	2200	4294	6494	130966586	SO:0001583	missense	8408			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1807C>T	12.37:g.132400633C>T	ENSP00000324560:p.Arg603Trp		130966586	Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468489	0.63625	4.55E-4	1.16E-4	ENSG00000177169	ENST00000321867	T	0.39787	1.06	5.62	4.65	0.58169	.	0.066330	0.56097	D	0.000024	T	0.62405	0.2425	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.64980	-0.6279	10	0.59425	D	0.04	-21.5144	15.683	0.77388	0.2192:0.7807:0.0:0.0	.	603	O75385	ULK1_HUMAN	W	603	ENSP00000324560:R603W	ENSP00000324560:R603W	R	+	1	2	ULK1	130966586	1.000000	0.71417	0.999000	0.59377	0.568000	0.35870	1.507000	0.35758	2.653000	0.90120	0.655000	0.94253	CGG		0.701	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3		
SIN3A	25942	hgsc.bcm.edu	37	15	75702229	75702229	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr15:75702229T>C	ENST00000394947.3	-	8	1579	c.1265A>G	c.(1264-1266)cAg>cGg	p.Q422R	SIN3A_ENST00000360439.4_Missense_Mutation_p.Q422R|SIN3A_ENST00000394949.4_Missense_Mutation_p.Q422R	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GCAGCCATTCTGGCTGGGCCT	0.493																																																	0			15											132.0	131.0	131.0					15																	75702229		2197	4294	6491	73489282	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1265A>G	15.37:g.75702229T>C	ENSP00000378402:p.Gln422Arg		73489282		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138552	0.77775	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.44482	0.92;0.92;0.92	5.93	5.93	0.95920	.	0.098406	0.64402	D	0.000001	T	0.54967	0.1891	L	0.46157	1.445	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.46331	-0.9199	10	0.15499	T	0.54	-20.2558	15.5755	0.76380	0.0:0.0:0.0:1.0	.	422	Q96ST3	SIN3A_HUMAN	R	422	ENSP00000378402:Q422R;ENSP00000378403:Q422R;ENSP00000353622:Q422R	ENSP00000353622:Q422R	Q	-	2	0	SIN3A	73489282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.039000	0.88947	2.281000	0.76405	0.533000	0.62120	CAG		0.493	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
CDKL5	6792	hgsc.bcm.edu	37	X	18606247	18606247	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:18606247G>A	ENST00000379989.3	+	10	1013	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CDKL5_ENST00000379996.3_Missense_Mutation_p.R243H	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGTAATCCTCGCTTCCATGGG	0.403																																																	0			X											160.0	157.0	158.0					X																	18606247		2203	4300	6503	18516168	SO:0001583	missense	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.728G>A	X.37:g.18606247G>A	ENSP00000369325:p.Arg243His		18516168	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769578	0.90020	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.44083	0.93;0.93	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044170	0.85682	D	0.000000	T	0.52980	0.1768	N	0.20685	0.6	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.54990	-0.8210	10	0.51188	T	0.08	-17.0545	19.5557	0.95347	0.0:0.0:1.0:0.0	.	243	O76039	CDKL5_HUMAN	H	243	ENSP00000369332:R243H;ENSP00000369325:R243H	ENSP00000369325:R243H	R	+	2	0	CDKL5	18516168	1.000000	0.71417	0.958000	0.39756	0.836000	0.47400	6.357000	0.73051	2.574000	0.86865	0.583000	0.79449	CGC		0.403	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	
DGKK	139189	hgsc.bcm.edu	37	X	50114798	50114798	+	RNA	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:50114798G>A	ENST00000376025.2	-	0	3595							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CATCCAGGGCGCTTTGTAGTG	0.443																																																	0			X											120.0	108.0	112.0					X																	50114798		1980	4148	6128	50131538			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50114798G>A			50131538	B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37																																																																																					0.443	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
ITIH6	347365	hgsc.bcm.edu	37	X	54777505	54777505	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:54777505G>T	ENST00000218436.6	-	12	3690	c.3661C>A	c.(3661-3663)Caa>Aaa	p.Q1221K		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1221					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGGGGTAGTTGCAGGGTACTG	0.637																																																	0			X											31.0	24.0	26.0					X																	54777505		2199	4297	6496	54794230	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3661C>A	X.37:g.54777505G>T	ENSP00000218436:p.Gln1221Lys		54794230	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690552	0.29962	.	.	ENSG00000102313	ENST00000218436	T	0.11712	2.75	3.58	1.31	0.21738	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.654529	0.13434	U	0.388198	T	0.14141	0.0342	M	0.70595	2.14	0.22827	N	0.998685	B	0.14438	0.01	B	0.15484	0.013	T	0.17531	-1.0366	10	0.42905	T	0.14	.	11.4543	0.50171	0.0:0.0:0.6637:0.3362	.	1221	Q6UXX5	ITH5L_HUMAN	K	1221	ENSP00000218436:Q1221K	ENSP00000218436:Q1221K	Q	-	1	0	ITIH5L	54794230	1.000000	0.71417	0.708000	0.30435	0.632000	0.37999	2.427000	0.44740	0.365000	0.24400	0.287000	0.19450	CAA		0.637	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
ALAS2	212	hgsc.bcm.edu	37	X	55042055	55042055	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:55042055C>T	ENST00000330807.5	-	8	1261	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.R362H|ALAS2_ENST00000335854.4_Missense_Mutation_p.R338H	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	375			R -> C (in XLSA; significantly reduced activity). {ECO:0000269|PubMed:21309041}.		cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	AATTCCATCACGCTCCCCAAT	0.517																																																	0			X											95.0	84.0	88.0					X																	55042055		2203	4300	6503	55058780	SO:0001583	missense	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1124G>A	X.37:g.55042055C>T	ENSP00000332369:p.Arg375His		55058780	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934925	0.92458	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.91464	-2.85;-2.85;-2.85	5.75	5.75	0.90469	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92309	0.7560	L	0.31926	0.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.993	D	0.90425	0.4420	10	0.25751	T	0.34	-8.2479	17.8507	0.88746	0.0:1.0:0.0:0.0	.	338;362;375	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	H	375;362;338	ENSP00000332369:R375H;ENSP00000379501:R362H;ENSP00000337131:R338H	ENSP00000332369:R375H	R	-	2	0	ALAS2	55058780	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.576000	0.86940	0.594000	0.82650	CGT		0.517	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032	
STARD8	9754	hgsc.bcm.edu	37	X	67943553	67943553	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:67943553G>A	ENST00000252336.6	+	12	3017	c.2645G>A	c.(2644-2646)cGg>cAg	p.R882Q	STARD8_ENST00000374599.3_Missense_Mutation_p.R962Q|STARD8_ENST00000374597.3_Missense_Mutation_p.R882Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	882	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CGTGTTCTCCGGGAGCGGGCC	0.657																																																	0			X											19.0	21.0	20.0					X																	67943553		2188	4280	6468	67860278	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2645G>A	X.37:g.67943553G>A	ENSP00000252336:p.Arg882Gln		67860278	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178285	0.78564	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.30182	1.54;1.54;1.54	4.44	3.57	0.40892	Lipid-binding START (3);START-like domain (1);	0.000000	0.64402	D	0.000011	T	0.56381	0.1981	M	0.86953	2.85	0.47341	D	0.999395	D;D	0.89917	0.999;1.0	D;D	0.77557	0.943;0.99	T	0.59920	-0.7363	10	0.72032	D	0.01	.	8.9995	0.36072	0.1103:0.0:0.8897:0.0	.	962;882	Q92502-2;Q92502	.;STAR8_HUMAN	Q	882;962;882	ENSP00000252336:R882Q;ENSP00000363727:R962Q;ENSP00000363725:R882Q	ENSP00000252336:R882Q	R	+	2	0	STARD8	67860278	1.000000	0.71417	0.679000	0.29978	0.987000	0.75469	4.158000	0.58150	0.890000	0.36211	0.600000	0.82982	CGG		0.657	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725	
P2RY10	27334	hgsc.bcm.edu	37	X	78216071	78216071	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:78216071C>T	ENST00000171757.2	+	4	334	c.54C>T	c.(52-54)acC>acT	p.T18T	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Silent_p.T18T	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCAACAGTACCAGCACTGCTG	0.378																																																	0			X											142.0	110.0	121.0					X																	78216071		2203	4300	6503	78102727	SO:0001819	synonymous_variant	27334			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.54C>T	X.37:g.78216071C>T			78102727	D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	CCDS14442.1																																																																																				0.378	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
BRWD3	254065	hgsc.bcm.edu	37	X	79945493	79945493	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:79945493A>G	ENST00000373275.4	-	32	3917	c.3701T>C	c.(3700-3702)gTa>gCa	p.V1234A	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1234					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.V1234G(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GACATCAGTTACAATTTTAGC	0.323																																																	1	Substitution - Missense(1)	ovary(1)	X											86.0	73.0	78.0					X																	79945493		2203	4300	6503	79832149	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3701T>C	X.37:g.79945493A>G	ENSP00000362372:p.Val1234Ala		79832149	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497006	0.85069	.	.	ENSG00000165288	ENST00000373275	T	0.19532	2.14	4.44	4.44	0.53790	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	M	0.79926	2.475	0.58432	D	0.999997	D	0.63880	0.993	P	0.60012	0.867	T	0.45220	-0.9276	9	.	.	.	-11.3827	13.1253	0.59351	1.0:0.0:0.0:0.0	.	1234	Q6RI45	BRWD3_HUMAN	A	1234	ENSP00000362372:V1234A	.	V	-	2	0	BRWD3	79832149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.705000	0.91357	1.738000	0.51689	0.481000	0.45027	GTA		0.323	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
ZNF711	7552	hgsc.bcm.edu	37	X	84526278	84526278	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:84526278T>C	ENST00000373165.3	+	9	2036	c.1730T>C	c.(1729-1731)cTt>cCt	p.L577P	ZNF711_ENST00000276123.3_Missense_Mutation_p.L577P|ZNF711_ENST00000395402.1_Missense_Mutation_p.L585P|ZNF711_ENST00000542798.1_Missense_Mutation_p.L419P|ZNF711_ENST00000360700.4_Missense_Mutation_p.L623P	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	577				L -> P (in Ref. 3; BAG61766). {ECO:0000305}.	positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GAGAGGGAGCTTCAACGCCAT	0.408																																																	0			X											79.0	63.0	68.0					X																	84526278		2201	4298	6499	84412934	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1730T>C	X.37:g.84526278T>C	ENSP00000362260:p.Leu577Pro		84412934	B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.609816	0.28712	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.3	2.93	0.34026	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.189536	0.25529	N	0.030048	T	0.41604	0.1166	H	0.96208	3.785	0.80722	D	1	B;B	0.18968	0.032;0.0	B;B	0.21360	0.034;0.001	T	0.45498	-0.9257	10	0.87932	D	0	-2.2071	8.5625	0.33520	0.0:0.1589:0.0:0.8411	.	623;577	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	P	585;577;577;623;419	ENSP00000378798:L585P;ENSP00000362260:L577P;ENSP00000276123:L577P;ENSP00000353922:L623P;ENSP00000442071:L419P	ENSP00000276123:L577P	L	+	2	0	ZNF711	84412934	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	5.060000	0.64312	0.678000	0.31325	0.417000	0.27973	CTT		0.408	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998	
KLHL4	56062	hgsc.bcm.edu	37	X	86888868	86888868	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:86888868T>C	ENST00000373119.4	+	8	1814	c.1669T>C	c.(1669-1671)Tca>Cca	p.S557P	KLHL4_ENST00000373114.4_Missense_Mutation_p.S557P	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	557						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGCCAGTATGTCAACTCCTAG	0.423																																																	0			X											165.0	131.0	142.0					X																	86888868		2203	4300	6503	86775524	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1669T>C	X.37:g.86888868T>C	ENSP00000362211:p.Ser557Pro		86775524	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013234	0.54468	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.58652	0.32;0.32	4.72	3.51	0.40186	Galactose oxidase, beta-propeller (1);	0.072240	0.64402	D	0.000019	T	0.60881	0.2303	L	0.33339	1.005	0.80722	D	1	D;B	0.53745	0.962;0.077	P;B	0.62885	0.908;0.099	T	0.61088	-0.7133	10	0.87932	D	0	.	9.0941	0.36629	0.1661:0.0:0.0:0.8339	.	557;557	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	P	557	ENSP00000362211:S557P;ENSP00000362206:S557P	ENSP00000362206:S557P	S	+	1	0	KLHL4	86775524	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	5.588000	0.67517	0.603000	0.29913	0.412000	0.27726	TCA		0.423	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
PCDH19	57526	hgsc.bcm.edu	37	X	99551677	99551677	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:99551677G>A	ENST00000373034.4	-	6	4720	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F	PCDH19_ENST00000420881.2_Silent_p.F967F|PCDH19_ENST00000255531.7_Silent_p.F968F|PCDH19_ENST00000464981.1_5'Flank	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1015					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F1015F(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CAAAGGTTGCGAAAGTCCGTT	0.562																																																	1	Substitution - coding silent(1)	breast(1)	X											81.0	80.0	81.0					X																	99551677		2126	4212	6338	99438333	SO:0001819	synonymous_variant	57575			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3045C>T	X.37:g.99551677G>A			99438333	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	CCDS55462.1																																																																																				0.562	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
NRK	203447	hgsc.bcm.edu	37	X	105159726	105159726	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:105159726A>T	ENST00000243300.9	+	15	2657	c.2354A>T	c.(2353-2355)cAa>cTa	p.Q785L	NRK_ENST00000428173.2_Missense_Mutation_p.Q786L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	785					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTAAGGTTCAAGAGAGATCT	0.328										HNSCC(51;0.14)																																							0			X											115.0	100.0	104.0					X																	105159726		1853	4075	5928	105046382	SO:0001583	missense	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2354A>T	X.37:g.105159726A>T	ENSP00000434830:p.Gln785Leu		105046382	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	a	10.57	1.387347	0.25031	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77358	-1.07;-1.09	5.09	0.911	0.19343	.	0.742320	0.11786	N	0.529731	T	0.68550	0.3013	N	0.24115	0.695	0.31403	N	0.676453	P;P	0.50819	0.939;0.596	P;B	0.51193	0.662;0.107	T	0.66972	-0.5788	10	0.72032	D	0.01	.	3.7559	0.08585	0.5178:0.2571:0.2251:0.0	.	453;785	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	L	785;786	ENSP00000434830:Q785L;ENSP00000438378:Q786L	ENSP00000434830:Q785L	Q	+	2	0	NRK	105046382	1.000000	0.71417	0.026000	0.17262	0.124000	0.20399	1.732000	0.38146	0.211000	0.20683	-0.326000	0.08463	CAA		0.328	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
VSIG1	340547	hgsc.bcm.edu	37	X	107319439	107319439	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:107319439C>T	ENST00000217957.5	+	6	938	c.821C>T	c.(820-822)gCg>gTg	p.A274V	VSIG1_ENST00000415430.3_Missense_Mutation_p.A310V	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	274						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						AAGACCATCGCGGAACTTGAG	0.403																																																	0			X											166.0	143.0	151.0					X																	107319439		2203	4300	6503	107206095	SO:0001583	missense	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.821C>T	X.37:g.107319439C>T	ENSP00000217957:p.Ala274Val		107206095	C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	C	6.523	0.464676	0.12402	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.40756	1.02;1.02	4.61	4.61	0.57282	.	2.341010	0.02190	N	0.061246	T	0.33527	0.0866	L	0.36672	1.1	0.09310	N	1	P;P	0.35226	0.491;0.491	B;B	0.22753	0.041;0.041	T	0.20739	-1.0266	10	0.29301	T	0.29	.	9.4469	0.38703	0.2284:0.7716:0.0:0.0	.	310;274	C9J4P2;Q86XK7	.;VSIG1_HUMAN	V	310;274	ENSP00000402219:A310V;ENSP00000217957:A274V	ENSP00000217957:A274V	A	+	2	0	VSIG1	107206095	0.117000	0.22190	0.013000	0.15412	0.008000	0.06430	2.635000	0.46537	2.284000	0.76573	0.600000	0.82982	GCG		0.403	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607	
KIAA1210	57481	hgsc.bcm.edu	37	X	118220751	118220751	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:118220751T>G	ENST00000402510.2	-	11	4441	c.4442A>C	c.(4441-4443)aAa>aCa	p.K1481T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1481										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGGGGCTCTTTTCAGTCGAAC	0.448																																																	0			X											70.0	68.0	69.0					X																	118220751		1893	4099	5992	118104779	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4442A>C	X.37:g.118220751T>G	ENSP00000384670:p.Lys1481Thr		118104779	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.58|13.58	2.279451|2.279451	0.40294|0.40294	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.13657	.|2.57	5.13|5.13	-0.121|-0.121	0.13535|0.13535	.|.	.|.	.|.	.|.	.|.	T|T	0.08980|0.08980	0.0222|0.0222	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|P	.|0.36535	.|0.557	.|B	.|0.35607	.|0.206	T|T	0.26643|0.26643	-1.0097|-1.0097	5|9	.|0.51188	.|T	.|0.08	.|.	8.2378|8.2378	0.31636|0.31636	0.0:0.494:0.0:0.506|0.0:0.494:0.0:0.506	.|.	.|1481	.|Q9ULL0	.|K1210_HUMAN	D|T	887|1481	.|ENSP00000384670:K1481T	.|ENSP00000384670:K1481T	E|K	-|-	3|2	2|0	KIAA1210|RP13-347D8.6	118104779|118104779	0.014000|0.014000	0.17966|0.17966	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	0.153000|0.153000	0.16323|0.16323	-0.261000|-0.261000	0.09405|0.09405	-1.230000|-1.230000	0.01575|0.01575	GAA|AAA		0.448	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
IGSF1	3547	hgsc.bcm.edu	37	X	130409618	130409618	+	Silent	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:130409618T>C	ENST00000361420.3	-	16	3097	c.3018A>G	c.(3016-3018)ggA>ggG	p.G1006G	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Silent_p.G997G|IGSF1_ENST00000370904.1_Silent_p.G997G|IGSF1_ENST00000370903.3_Silent_p.G1011G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1006	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.G1006G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAGTGGCTTCTCCTTCTTTGT	0.532																																																	1	Substitution - coding silent(1)	lung(1)	X											120.0	103.0	109.0					X																	130409618		2203	4300	6503	130237299	SO:0001819	synonymous_variant	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3018A>G	X.37:g.130409618T>C			130237299	B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	CCDS14629.1																																																																																				0.532	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
ZFP92	139735	hgsc.bcm.edu	37	X	152686134	152686134	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:152686134C>T	ENST00000338647.5	+	4	300	c.299C>T	c.(298-300)aCg>aTg	p.T100M		NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)	6						TCGACTTCAACGCAGAAGCAT	0.602																																																	0			X											65.0	52.0	56.0					X																	152686134		692	1591	2283	152339328	SO:0001583	missense	139735			U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.299C>T	X.37:g.152686134C>T	ENSP00000462054:p.Thr100Met		152339328		Missense_Mutation	SNP	ENST00000338647.5	37	CCDS59177.1																																																																																				0.602	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332220.2		
ZFP92	139735	hgsc.bcm.edu	37	X	152686804	152686804	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:152686804C>T	ENST00000338647.5	+	4	970	c.969C>T	c.(967-969)cgC>cgT	p.R323R	U82695.10_ENST00000569962.1_lincRNA	NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)	6						TCGCGTGCCGCGAGTGCGGCA	0.711																																																	0			X											8.0	9.0	8.0					X																	152686804		677	1549	2226	152339998	SO:0001819	synonymous_variant	139735			U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.969C>T	X.37:g.152686804C>T			152339998		Silent	SNP	ENST00000338647.5	37	CCDS59177.1																																																																																				0.711	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332220.2		
FLNA	2316	hgsc.bcm.edu	37	X	153592920	153592920	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:153592920C>T	ENST00000369850.3	-	13	2232	c.1996G>A	c.(1996-1998)Gcg>Acg	p.A666T	FLNA_ENST00000360319.4_Missense_Mutation_p.A666T|FLNA_ENST00000422373.1_Missense_Mutation_p.A666T|FLNA_ENST00000344736.4_Missense_Mutation_p.A666T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	666					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTGGGGCGCGTCACGGATG	0.627																																																	0			X											38.0	43.0	42.0					X																	153592920		2170	4234	6404	153246114	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1996G>A	X.37:g.153592920C>T	ENSP00000358866:p.Ala666Thr		153246114	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335861	0.41398	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91996	-2.1;-2.1;-2.95;-2.95	4.95	4.95	0.65309	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.076257	0.51477	D	0.000086	D	0.93452	0.7911	L	0.54323	1.7	0.80722	D	1	B;D	0.63046	0.069;0.992	B;P	0.54965	0.111;0.765	D	0.93591	0.6921	10	0.49607	T	0.09	.	17.4666	0.87634	0.0:1.0:0.0:0.0	.	666;666	P21333-2;P21333	.;FLNA_HUMAN	T	666;639;666;666;666	ENSP00000353467:A666T;ENSP00000416926:A666T;ENSP00000358866:A666T;ENSP00000358863:A666T	ENSP00000358863:A666T	A	-	1	0	FLNA	153246114	0.996000	0.38824	0.110000	0.21437	0.580000	0.36256	3.082000	0.50128	2.049000	0.60858	0.525000	0.51046	GCG		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
CTAG2	30848	hgsc.bcm.edu	37	X	153881592	153881592	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:153881592G>A	ENST00000247306.4	-	1	261	c.198C>T	c.(196-198)ggC>ggT	p.G66G	CTAG2_ENST00000369585.3_Silent_p.G66G	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	66	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGCGGCACCGCCATGCGGAC	0.721																																																	0			X											20.0	21.0	20.0					X																	153881592		2185	4279	6464	153534786	SO:0001819	synonymous_variant	30848			AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.198C>T	X.37:g.153881592G>A			153534786	O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	CCDS14759.1																																																																																				0.721	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994	
ZNF595	152687	hgsc.bcm.edu	37	4	60044	60044	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr4:60044C>T	ENST00000509152.2	+	3	409	c.224C>T	c.(223-225)cCa>cTa	p.P75L	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.P75L			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GCCAAACCCCCAGGTAGGTGA	0.498																																																	0			4											104.0	111.0	109.0					4																	60044		2174	4296	6470	50044	SO:0001583	missense	255403			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.224C>T	4.37:g.60044C>T	ENSP00000434858:p.Pro75Leu		50044		Missense_Mutation	SNP	ENST00000509152.2	37		.	.	.	.	.	.	.	.	.	.	C	13.64	2.296181	0.40594	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.01034	5.42;5.52	0.681	0.681	0.17986	Krueppel-associated box (2);	.	.	.	.	T	0.04048	0.0113	.	.	.	0.36552	D	0.87191	D;D	0.89917	0.983;1.0	P;D	0.85130	0.656;0.997	T	0.42899	-0.9424	7	0.87932	D	0	.	.	.	.	.	75;75	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	L	75	ENSP00000434858:P75L;ENSP00000437878:P75L	ENSP00000434858:P75L	P	+	2	0	ZNF595	50044	0.011000	0.17503	0.188000	0.23233	0.234000	0.25298	0.061000	0.14366	0.655000	0.30866	0.484000	0.47621	CCA		0.498	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524	
PIGG	54872	hgsc.bcm.edu	37	4	533022	533022	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr4:533022C>A	ENST00000453061.2	+	13	2922	c.2816C>A	c.(2815-2817)aCa>aAa	p.T939K	PIGG_ENST00000310340.5_Missense_Mutation_p.T931K|PIGG_ENST00000383028.4_Missense_Mutation_p.T806K|PIGG_ENST00000504346.1_Missense_Mutation_p.T850K|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	939					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GTTTTGGTGACATCTCTGCGT	0.393																																																	0			4											191.0	168.0	176.0					4																	533022		2203	4300	6503	523022	SO:0001583	missense	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2816C>A	4.37:g.533022C>A	ENSP00000415203:p.Thr939Lys		523022	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875396	0.91664	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.91	5.91	0.95273	.	0.212372	0.48286	D	0.000197	T	0.65544	0.2701	M	0.87547	2.89	0.80722	D	1	D;D;D	0.63880	0.993;0.989;0.993	P;P;P	0.57620	0.79;0.672;0.824	T	0.67169	-0.5738	10	0.41790	T	0.15	-16.5418	17.7902	0.88550	0.0:1.0:0.0:0.0	.	806;939;931	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	K	931;939;850;806;95	ENSP00000311750:T931K;ENSP00000415203:T939K;ENSP00000424800:T850K;ENSP00000372494:T806K	ENSP00000311750:T931K	T	+	2	0	PIGG	523022	1.000000	0.71417	0.959000	0.39883	0.769000	0.43574	6.747000	0.74872	2.813000	0.96785	0.655000	0.94253	ACA		0.393	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733	
PI4K2B	55300	hgsc.bcm.edu	37	4	25262148	25262148	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr4:25262148A>G	ENST00000264864.6	+	6	1102	c.913A>G	c.(913-915)Agg>Ggg	p.R305G	PI4K2B_ENST00000512921.1_Missense_Mutation_p.R209G	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	305	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TTTGAAAGACAGGGGCAATGA	0.299																																																	0			4											116.0	124.0	121.0					4																	25262148		2203	4299	6502	24871246	SO:0001583	missense	55300			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.913A>G	4.37:g.25262148A>G	ENSP00000264864:p.Arg305Gly		24871246	Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656056	0.67586	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	D;D	0.98914	-5.23;-5.23	5.76	5.76	0.90799	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.046975	0.85682	D	0.000000	D	0.99369	0.9778	H	0.97806	4.08	0.80722	D	1	D	0.54207	0.965	P	0.61533	0.89	D	0.98681	1.0692	10	0.87932	D	0	-8.3356	11.7544	0.51868	0.7317:0.2683:0.0:0.0	.	305	Q8TCG2	P4K2B_HUMAN	G	209;305;274	ENSP00000423373:R209G;ENSP00000264864:R305G	ENSP00000264864:R305G	R	+	1	2	PI4K2B	24871246	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.184000	0.42575	2.323000	0.78572	0.528000	0.53228	AGG		0.299	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323	
N4BP2	55728	hgsc.bcm.edu	37	4	40104123	40104123	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr4:40104123G>A	ENST00000261435.6	+	4	1074	c.658G>A	c.(658-660)Gtt>Att	p.V220I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	220					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTCACATTCAGTTTTGAACGA	0.333																																																	0			4											44.0	46.0	45.0					4																	40104123		2187	4297	6484	39780518	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.658G>A	4.37:g.40104123G>A	ENSP00000261435:p.Val220Ile		39780518	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	G	8.367	0.834379	0.16820	.	.	ENSG00000078177	ENST00000261435;ENST00000381804;ENST00000515550	T;T	0.80393	-1.37;-1.37	5.53	2.77	0.32553	.	1.146900	0.06266	N	0.694850	T	0.72104	0.3419	L	0.32530	0.975	0.09310	N	1	B;B	0.25904	0.137;0.085	B;B	0.24269	0.052;0.023	T	0.53272	-0.8462	10	0.20046	T	0.44	-1.538	10.9171	0.47142	0.0:0.2644:0.5982:0.1373	.	220;220	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	I	220;140;140	ENSP00000261435:V220I;ENSP00000422057:V140I	ENSP00000261435:V220I	V	+	1	0	N4BP2	39780518	0.020000	0.18652	0.000000	0.03702	0.002000	0.02628	0.279000	0.18771	0.395000	0.25257	0.650000	0.86243	GTT		0.333	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177	
KIT	3815	hgsc.bcm.edu	37	4	55592092	55592092	+	Silent	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr4:55592092A>G	ENST00000288135.5	+	9	1513	c.1416A>G	c.(1414-1416)ctA>ctG	p.L472L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	472	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L472L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGGAAAGCTAGTGGTTCAGA	0.448		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	1	Substitution - coding silent(1)	genital_tract(1)	4											121.0	109.0	113.0					4																	55592092		2203	4300	6503	55286849	SO:0001819	synonymous_variant	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1416A>G	4.37:g.55592092A>G			55286849	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	CCDS3496.1																																																																																				0.448	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
TACR3	6870	hgsc.bcm.edu	37	4	104640303	104640303	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr4:104640303G>A	ENST00000304883.2	-	1	670	c.530C>T	c.(529-531)aCg>aTg	p.T177M		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	177					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CGCAATGGCCGTCATGGAGTA	0.507																																																	0			4											52.0	50.0	50.0					4																	104640303		2203	4300	6503	104859752	SO:0001583	missense	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.530C>T	4.37:g.104640303G>A	ENSP00000303325:p.Thr177Met		104859752	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058659	0.55325	.	.	ENSG00000169836	ENST00000304883	T	0.74002	-0.8	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.212960	0.48767	D	0.000179	D	0.84009	0.5378	M	0.74258	2.255	0.58432	D	0.999994	D	0.69078	0.997	P	0.62184	0.899	T	0.82481	-0.0436	10	0.29301	T	0.29	.	17.6101	0.88050	0.0:0.0:1.0:0.0	.	177	P29371	NK3R_HUMAN	M	177	ENSP00000303325:T177M	ENSP00000303325:T177M	T	-	2	0	TACR3	104859752	1.000000	0.71417	0.963000	0.40424	0.431000	0.31685	9.319000	0.96338	2.386000	0.81285	0.591000	0.81541	ACG		0.507	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
FAT4	79633	hgsc.bcm.edu	37	4	126411432	126411432	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr4:126411432G>A	ENST00000394329.3	+	17	13468	c.13455G>A	c.(13453-13455)gcG>gcA	p.A4485A	FAT4_ENST00000335110.5_Silent_p.A2726A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4485					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAGTCCTGCGGGGCATGTCT	0.622																																																	0			4											88.0	86.0	86.0					4																	126411432		2203	4300	6503	126630882	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13455G>A	4.37:g.126411432G>A			126630882	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.622	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
PRMT9	90826	hgsc.bcm.edu	37	4	148594895	148594895	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr4:148594895G>T	ENST00000322396.6	-	3	711	c.469C>A	c.(469-471)Ctt>Att	p.L157I	PRMT10_ENST00000541232.1_Missense_Mutation_p.L44I	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		157	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GTGTCATTAAGCATGATAAAG	0.398																																																	0			4											103.0	102.0	102.0					4																	148594895		2203	4300	6503	148814345	SO:0001583	missense	90826																														ENST00000322396.6:c.469C>A	4.37:g.148594895G>T	ENSP00000314396:p.Leu157Ile		148814345	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017865	0.93404	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.26518	1.73;1.73	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.66297	2.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52779	-0.8530	10	0.66056	D	0.02	.	19.2339	0.93850	0.0:0.0:1.0:0.0	.	157	Q6P2P2	ANM10_HUMAN	I	157;44	ENSP00000314396:L157I;ENSP00000439508:L44I	ENSP00000314396:L157I	L	-	1	0	PRMT10	148814345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.461000	0.97646	2.548000	0.85928	0.655000	0.94253	CTT		0.398	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153245446	153245446	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr4:153245446G>A	ENST00000281708.4	-	11	2974	c.1745C>T	c.(1744-1746)tCg>tTg	p.S582L	FBXW7_ENST00000393956.3_Missense_Mutation_p.S406L|FBXW7_ENST00000263981.5_Missense_Mutation_p.S502L|FBXW7_ENST00000296555.5_Missense_Mutation_p.S464L|FBXW7_ENST00000603841.1_Missense_Mutation_p.S582L|FBXW7_ENST00000603548.1_Missense_Mutation_p.S582L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	582			S -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S582L(10)|p.S502L(2)|p.S343L(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTTGTTAACGACTGGTGCCC	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	15	Substitution - Missense(14)|Unknown(1)	large_intestine(14)|haematopoietic_and_lymphoid_tissue(1)	4											150.0	126.0	134.0					4																	153245446		2203	4300	6503	153464896	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1745C>T	4.37:g.153245446G>A	ENSP00000281708:p.Ser582Leu		153464896	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429316	0.62844	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.81179	2.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.99;0.993;0.988;0.988	T	0.66480	-0.5913	10	0.39692	T	0.17	-9.1133	19.838	0.96666	0.0:0.0:1.0:0.0	.	406;582;464;502	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	582;464;502;406	ENSP00000281708:S582L;ENSP00000296555:S464L;ENSP00000263981:S502L;ENSP00000377528:S406L	ENSP00000263981:S502L	S	-	2	0	FBXW7	153464896	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.869000	0.99810	2.692000	0.91855	0.650000	0.86243	TCG		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
DDX1	1653	hgsc.bcm.edu	37	2	15760383	15760383	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr2:15760383G>A	ENST00000381341.2	+	18	1647	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	DDX1_ENST00000233084.3_Missense_Mutation_p.E420K			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	420	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.E420K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GAAACTGTCCGAGAAGATAAT	0.368																																																	1	Substitution - Missense(1)	ovary(1)	2											130.0	126.0	128.0					2																	15760383		2203	4300	6503	15677834	SO:0001583	missense	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1258G>A	2.37:g.15760383G>A	ENSP00000370745:p.Glu420Lys		15677834	B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141873	0.94560	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.04454	3.62;3.62	6.07	6.07	0.98685	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.06735	0.0172	N	0.17872	0.535	0.80722	D	1	D	0.61697	0.99	P	0.46659	0.523	T	0.46992	-0.9151	10	0.33141	T	0.24	-29.4035	20.6525	0.99598	0.0:0.0:1.0:0.0	.	420	Q92499	DDX1_HUMAN	K	420;420;404	ENSP00000370745:E420K;ENSP00000233084:E420K	ENSP00000233084:E420K	E	+	1	0	DDX1	15677834	1.000000	0.71417	0.995000	0.50966	0.436000	0.31835	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	GAG		0.368	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939	
APOB	338	hgsc.bcm.edu	37	2	21232202	21232202	+	Missense_Mutation	SNP	C	C	T	rs554045156		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr2:21232202C>T	ENST00000233242.1	-	26	7665	c.7538G>A	c.(7537-7539)cGa>cAa	p.R2513Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2513					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGGTCTCTCGGAATTTGGC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		21389	0.0		0.0	False		,,,				2504	0.001																0			2											126.0	107.0	113.0					2																	21232202		2203	4300	6503	21085707	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7538G>A	2.37:g.21232202C>T	ENSP00000233242:p.Arg2513Gln		21085707	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	2.948	-0.217300	0.06101	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00651	5.97	5.08	-0.328	0.12690	.	0.718713	0.12483	N	0.464943	T	0.00271	0.0008	N	0.01188	-0.97	0.80722	D	1	B	0.12013	0.005	B	0.01281	0.0	T	0.46884	-0.9159	10	0.16896	T	0.51	.	3.5646	0.07895	0.2792:0.2257:0.0:0.4951	.	2513	P04114	APOB_HUMAN	Q	2513	ENSP00000233242:R2513Q	ENSP00000233242:R2513Q	R	-	2	0	APOB	21085707	0.611000	0.26992	0.997000	0.53966	0.912000	0.54170	0.083000	0.14871	0.251000	0.21505	-0.379000	0.06801	CGA		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
CAD	790	hgsc.bcm.edu	37	2	27459632	27459632	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr2:27459632G>T	ENST00000403525.1	+	26	4285	c.4141G>T	c.(4141-4143)Ggg>Tgg	p.G1381W	CAD_ENST00000264705.4_Missense_Mutation_p.G1444W			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCAGATCGGGCCAGCCCC	0.537																																																	0			2											115.0	111.0	113.0					2																	27459632		2203	4300	6503	27313136	SO:0001583	missense	1677			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4141G>T	2.37:g.27459632G>T	ENSP00000384510:p.Gly1381Trp		27313136	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	G	27.2	4.807082	0.90623	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.87029	-2.2;-2.2	5.58	5.58	0.84498	Methylglyoxal synthase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92163	0.7515	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.917;1.0	D	0.91034	0.4866	10	0.39692	T	0.17	-16.0693	18.128	0.89592	0.0:0.0:1.0:0.0	.	1381;1444	F8VPD4;P27708	.;PYR1_HUMAN	W	1444;1381	ENSP00000264705:G1444W;ENSP00000384510:G1381W	ENSP00000264705:G1444W	G	+	1	0	CAD	27313136	1.000000	0.71417	0.955000	0.39395	0.959000	0.62525	7.199000	0.77831	2.622000	0.88805	0.561000	0.74099	GGG		0.537	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
GCFC2	6936	hgsc.bcm.edu	37	2	75933720	75933720	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr2:75933720T>C	ENST00000321027.3	-	2	456	c.323A>G	c.(322-324)gAa>gGa	p.E108G	GCFC2_ENST00000409857.3_Missense_Mutation_p.E108G|GCFC2_ENST00000541687.1_Missense_Mutation_p.E108G|GCFC2_ENST00000470503.1_Missense_Mutation_p.E108G	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	108					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										ATCCTTACTTTCTGAGGAGTG	0.343																																																	0			2											115.0	110.0	112.0					2																	75933720		2203	4300	6503	75787228	SO:0001583	missense	6936			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.323A>G	2.37:g.75933720T>C	ENSP00000318690:p.Glu108Gly		75787228	A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	T	7.345	0.621783	0.14193	.	.	ENSG00000005436	ENST00000321027;ENST00000541687;ENST00000409857;ENST00000442309	T;T;T;T	0.36520	2.26;1.31;2.32;1.25	4.04	2.81	0.32909	.	0.859599	0.10079	N	0.718680	T	0.28234	0.0697	L	0.35723	1.085	0.27688	N	0.946206	B;B	0.20052	0.041;0.009	B;B	0.20767	0.031;0.005	T	0.24548	-1.0157	10	0.45353	T	0.12	-1.2405	6.9668	0.24627	0.0:0.1137:0.0:0.8863	.	108;108	A4UHQ8;P16383	.;GCF_HUMAN	G	108	ENSP00000318690:E108G;ENSP00000437767:E108G;ENSP00000386552:E108G;ENSP00000415831:E108G	ENSP00000318690:E108G	E	-	2	0	C2orf3	75787228	0.895000	0.30542	0.945000	0.38365	0.072000	0.16883	0.402000	0.20965	0.614000	0.30107	0.528000	0.53228	GAA		0.343	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203	
AMMECR1L	83607	hgsc.bcm.edu	37	2	128627062	128627062	+	Silent	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr2:128627062T>C	ENST00000272647.5	-	6	950	c.690A>G	c.(688-690)acA>acG	p.T230T	AMMECR1L_ENST00000393001.1_Silent_p.T230T	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	230	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AATATGTGGCTGTGCGTTTGA	0.388																																																	0			2											148.0	131.0	137.0					2																	128627062		2203	4300	6503	128343532	SO:0001819	synonymous_variant	83607				CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.690A>G	2.37:g.128627062T>C			128343532	B4E276	Silent	SNP	ENST00000272647.5	37	CCDS2152.1																																																																																				0.388	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445	
ACMSD	130013	hgsc.bcm.edu	37	2	135630172	135630172	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr2:135630172T>A	ENST00000356140.5	+	8	946	c.810T>A	c.(808-810)gaT>gaA	p.D270E	AC016725.4_ENST00000413962.1_RNA|ACMSD_ENST00000283054.4_Missense_Mutation_p.D212E|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.D212E|AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000428857.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	270					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TGGTTCATGATCCTCTGTCCC	0.502																																																	0			2											162.0	140.0	148.0					2																	135630172		2203	4300	6503	135346642	SO:0001583	missense	130013			AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.810T>A	2.37:g.135630172T>A	ENSP00000348459:p.Asp270Glu		135346642	Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	37	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091205	0.76756	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.66	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.87682	2.9	0.58432	D	0.999999	B;P	0.35433	0.198;0.501	B;P	0.45377	0.23;0.478	T	0.69359	-0.5166	9	0.40728	T	0.16	-18.0802	8.4879	0.33082	0.0:0.2795:0.0:0.7205	.	212;270	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	E	270;212;212	.	ENSP00000283054:D212E	D	+	3	2	ACMSD	135346642	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.023000	0.41040	0.991000	0.38814	0.477000	0.44152	GAT		0.502	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1		
PDE11A	50940	hgsc.bcm.edu	37	2	178494183	178494183	+	Silent	SNP	G	G	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr2:178494183G>T	ENST00000286063.6	-	20	3071	c.2754C>A	c.(2752-2754)gcC>gcA	p.A918A	PDE11A_ENST00000449286.2_Silent_p.A560A|PDE11A_ENST00000358450.4_Silent_p.A668A|PDE11A_ENST00000389683.3_Silent_p.A474A|PDE11A_ENST00000450799.2_Silent_p.A109A|PDE11A_ENST00000409504.1_Silent_p.A560A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	918					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GGGAGGATGAGGCAGTTGAGG	0.493									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0			2											262.0	209.0	227.0					2																	178494183		2203	4300	6503	178202429	SO:0001819	synonymous_variant	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2754C>A	2.37:g.178494183G>T			178202429	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	8.294	0.818363	0.16607	.	.	ENSG00000128655	ENST00000436700	.	.	.	5.62	3.76	0.43208	.	.	.	.	.	T	0.54464	0.1860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51325	-0.8720	4	.	.	.	.	5.362	0.16093	0.0782:0.1206:0.6158:0.1854	.	.	.	.	I	121	.	.	L	-	1	0	PDE11A	178202429	0.901000	0.30685	0.921000	0.36526	0.204000	0.24138	1.030000	0.30153	1.320000	0.45209	0.591000	0.81541	CTC		0.493	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
TTN	7273	hgsc.bcm.edu	37	2	179560732	179560732	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr2:179560732A>T	ENST00000591111.1	-	112	30340	c.30116T>A	c.(30115-30117)gTt>gAt	p.V10039D	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V10356D|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9112D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ttcctcgtgaacttctttttt	0.413																																																	0			2											181.0	158.0	166.0					2																	179560732		1483	3194	4677	179268977	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30116T>A	2.37:g.179560732A>T	ENSP00000465570:p.Val10039Asp		179268977	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	12.47	1.946360	0.34377	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.68624	-0.34	5.78	4.52	0.55395	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.62441	0.2428	L	0.57536	1.79	0.09310	N	0.999999	B;P	0.36837	0.023;0.571	B;B	0.36464	0.021;0.225	T	0.60826	-0.7186	9	0.87932	D	0	.	9.5697	0.39420	0.8326:0.0:0.0:0.1674	.	10039;10039	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	D	9112;234	ENSP00000343764:V9112D	ENSP00000343764:V9112D	V	-	2	0	TTN	179268977	0.289000	0.24334	0.246000	0.24233	0.785000	0.44390	1.849000	0.39318	2.204000	0.70986	0.528000	0.53228	GTT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ANO7	50636	hgsc.bcm.edu	37	2	242148982	242148982	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr2:242148982G>A	ENST00000274979.8	+	13	1556	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	ANO7_ENST00000402430.3_Missense_Mutation_p.E484K	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	485					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GGGTGAGGACGAGCCCTACTT	0.701																																																	0			2											36.0	39.0	38.0					2																	242148982		2203	4299	6502	241797655	SO:0001583	missense	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1453G>A	2.37:g.242148982G>A	ENSP00000274979:p.Glu485Lys		241797655	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477806	0.84640	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.67523	-0.27;-0.27	3.61	3.61	0.41365	.	0.163928	0.38272	N	0.001741	T	0.77903	0.4200	M	0.77103	2.36	0.44711	D	0.997707	D	0.60160	0.987	P	0.58172	0.834	T	0.82382	-0.0485	10	0.87932	D	0	.	14.1015	0.65059	0.0:0.0:1.0:0.0	.	485	Q6IWH7	ANO7_HUMAN	K	485;484	ENSP00000274979:E485K;ENSP00000385418:E484K	ENSP00000274979:E485K	E	+	1	0	ANO7	241797655	1.000000	0.71417	0.809000	0.32408	0.469000	0.32828	7.964000	0.87933	1.578000	0.49821	0.306000	0.20318	GAG		0.701	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891	
KCNV2	169522	hgsc.bcm.edu	37	9	2718826	2718826	+	Missense_Mutation	SNP	G	G	A	rs566426805		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr9:2718826G>A	ENST00000382082.3	+	1	1325	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	363					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.G363C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CCACCAACGCGGCCAGACGGT	0.677																																																	1	Substitution - Missense(1)	kidney(1)	9											85.0	76.0	79.0					9																	2718826		2203	4299	6502	2708826	SO:0001583	missense	169522			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1087G>A	9.37:g.2718826G>A	ENSP00000371514:p.Gly363Ser		2708826	Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.016|3.016	-0.202931|-0.202931	0.06219|0.06219	.|.	.|.	ENSG00000168263|ENSG00000168263	ENST00000382082|ENST00000423608	D|.	0.96940|.	-4.18|.	5.07|5.07	-1.74|-1.74	0.08056|0.08056	Ion transport (1);|.	0.888331|.	0.09828|.	N|.	0.750577|.	T|T	0.25680|0.25680	0.0625|0.0625	N|N	0.21373|0.21373	0.66|0.66	0.09310|0.09310	N|N	1|1	B|.	0.26081|.	0.141|.	B|.	0.15484|.	0.013|.	T|T	0.34700|0.34700	-0.9818|-0.9818	10|6	0.39692|0.87932	T|D	0.17|0	.|.	7.0073|7.0073	0.24844|0.24844	0.3208:0.1076:0.5716:0.0|0.3208:0.1076:0.5716:0.0	.|.	363|.	Q8TDN2|.	KCNV2_HUMAN|.	S|Q	363|313	ENSP00000371514:G363S|.	ENSP00000371514:G363S|ENSP00000409635:R313Q	G|R	+|+	1|2	0|0	KCNV2|KCNV2	2708826|2708826	0.184000|0.184000	0.23200|0.23200	0.008000|0.008000	0.14137|0.14137	0.190000|0.190000	0.23558|0.23558	0.542000|0.542000	0.23222|0.23222	-0.319000|-0.319000	0.08652|0.08652	0.563000|0.563000	0.77884|0.77884	GGC|CGG		0.677	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497	
FREM1	158326	hgsc.bcm.edu	37	9	14868843	14868843	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr9:14868843C>T	ENST00000380880.3	-	2	916	c.133G>A	c.(133-135)Gat>Aat	p.D45N	FREM1_ENST00000422223.2_Missense_Mutation_p.D45N|FREM1_ENST00000380881.4_Missense_Mutation_p.D45N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	45					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCAGGTCATCTCCTGACAGG	0.557																																																	0			9											49.0	51.0	50.0					9																	14868843		2005	4180	6185	14858843	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.133G>A	9.37:g.14868843C>T	ENSP00000370262:p.Asp45Asn		14858843	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	7.199	0.593042	0.13875	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.09630	2.97;2.96;2.96	5.36	5.36	0.76844	.	0.340632	0.34555	N	0.003878	T	0.08358	0.0208	L	0.31420	0.93	0.28960	N	0.889914	B	0.17268	0.021	B	0.15052	0.012	T	0.19745	-1.0296	10	0.14656	T	0.56	-5.564	12.4376	0.55608	0.0:0.9233:0.0:0.0767	.	45	Q5H8C1	FREM1_HUMAN	N	45	ENSP00000370263:D45N;ENSP00000412940:D45N;ENSP00000370262:D45N	ENSP00000370257:D45N	D	-	1	0	FREM1	14858843	0.753000	0.28349	0.304000	0.25085	0.302000	0.27658	3.661000	0.54503	2.521000	0.84997	0.563000	0.77884	GAT		0.557	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
HAUS6	54801	hgsc.bcm.edu	37	9	19063006	19063006	+	Splice_Site	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr9:19063006C>T	ENST00000380502.3	-	14	2096	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	SCARNA8_ENST00000515924.1_RNA|HAUS6_ENST00000380496.1_Splice_Site_p.E407E	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	543					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTTTCTCACCTCTTCTACCA	0.418																																																	0			9											162.0	147.0	152.0					9																	19063006		2203	4300	6503	19053006	SO:0001630	splice_region_variant	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1629+1G>A	9.37:g.19063006C>T			19053006	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	ENST00000380502.3	37	CCDS6489.1																																																																																				0.418	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	Silent
DNAJB5	25822	hgsc.bcm.edu	37	9	34996273	34996273	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr9:34996273G>A	ENST00000541010.1	+	2	3235	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	DNAJB5_ENST00000453597.3_Missense_Mutation_p.G189S|DNAJB5_ENST00000454002.2_Missense_Mutation_p.G147S|DNAJB5_ENST00000545841.1_Missense_Mutation_p.G75S|DNAJB5_ENST00000335998.3_Missense_Mutation_p.G109S|DNAJB5_ENST00000312316.5_Missense_Mutation_p.G75S			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	75					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCTGAAGACCGGCGGTGGCAC	0.592																																																	0			9											36.0	36.0	36.0					9																	34996273		2203	4299	6502	34986273	SO:0001583	missense	25822			AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.223G>A	9.37:g.34996273G>A	ENSP00000443151:p.Gly75Ser		34986273	B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	ENST00000541010.1	37	CCDS35007.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529786	0.64860	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841;ENST00000539059;ENST00000443266	T;T;T;T;T;T;T;T	0.73363	0.01;0.1;-0.02;-0.02;0.05;-0.02;-0.74;-0.58	5.35	4.45	0.53987	Heat shock protein DnaJ, N-terminal (2);	0.096440	0.64402	D	0.000001	T	0.68531	0.3011	L	0.48174	1.505	0.80722	D	1	D;P	0.57257	0.979;0.724	B;B	0.43536	0.423;0.295	T	0.69339	-0.5171	10	0.36615	T	0.2	.	13.5344	0.61639	0.0744:0.0:0.9256:0.0	.	147;75	B4DSA6;O75953	.;DNJB5_HUMAN	S	189;109;75;75;75;147;75;111;75	ENSP00000404079:G189S;ENSP00000337626:G109S;ENSP00000312517:G75S;ENSP00000443151:G75S;ENSP00000413684:G147S;ENSP00000441999:G75S;ENSP00000445536:G111S;ENSP00000396332:G75S	ENSP00000312517:G75S	G	+	1	0	DNAJB5	34986273	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	7.752000	0.85141	1.636000	0.50526	-0.136000	0.14681	GGC		0.592	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1		
MELK	9833	hgsc.bcm.edu	37	9	36671030	36671030	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr9:36671030A>G	ENST00000298048.2	+	16	1725	c.1541A>G	c.(1540-1542)cAt>cGt	p.H514R	MELK_ENST00000543751.1_Missense_Mutation_p.H482R|MELK_ENST00000541717.1_Missense_Mutation_p.H473R|MELK_ENST00000536860.1_Missense_Mutation_p.H466R|MELK_ENST00000536329.1_Missense_Mutation_p.H443R|MELK_ENST00000538311.1_Missense_Mutation_p.H320R|MELK_ENST00000545008.1_Missense_Mutation_p.H443R|MELK_ENST00000536987.1_Missense_Mutation_p.H383R	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	514	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AACCAAGCACATATGGAGGAG	0.507																																					Ovarian(82;980 1317 7225 14391 18624)												0			9											102.0	100.0	101.0					9																	36671030		2203	4300	6503	36661030	SO:0001583	missense	9833			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1541A>G	9.37:g.36671030A>G	ENSP00000298048:p.His514Arg		36661030	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.726511	0.48833	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.70986	-0.34;0.64;0.43;0.96;0.34;-0.53;-0.35;-0.34	5.95	5.95	0.96441	.	0.203413	0.51477	D	0.000085	T	0.75561	0.3866	M	0.65498	2.005	0.58432	D	0.999998	P;P;B;B;D;B;B	0.53462	0.868;0.835;0.005;0.004;0.96;0.325;0.001	P;P;B;B;P;B;B	0.52514	0.448;0.576;0.015;0.016;0.701;0.272;0.004	T	0.72232	-0.4353	10	0.10377	T	0.69	-10.8298	16.4237	0.83790	1.0:0.0:0.0:0.0	.	434;443;466;473;443;482;514	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	R	514;320;383;443;466;443;473;482	ENSP00000298048:H514R;ENSP00000438226:H320R;ENSP00000439184:H383R;ENSP00000445452:H443R;ENSP00000439792:H466R;ENSP00000443550:H443R;ENSP00000437804:H473R;ENSP00000441596:H482R	ENSP00000298048:H514R	H	+	2	0	MELK	36661030	1.000000	0.71417	0.934000	0.37439	0.981000	0.71138	6.700000	0.74619	2.279000	0.76181	0.533000	0.62120	CAT		0.507	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791	
PTCH1	5727	hgsc.bcm.edu	37	9	98231179	98231179	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr9:98231179G>A	ENST00000331920.6	-	14	2403	c.2104C>T	c.(2104-2106)Cca>Tca	p.P702S	PTCH1_ENST00000430669.2_Missense_Mutation_p.P636S|PTCH1_ENST00000429896.2_Missense_Mutation_p.P551S|PTCH1_ENST00000437951.1_Missense_Mutation_p.P636S|PTCH1_ENST00000421141.1_Missense_Mutation_p.P551S|PTCH1_ENST00000418258.1_Missense_Mutation_p.P551S|PTCH1_ENST00000375274.2_Missense_Mutation_p.P701S	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	702					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTGCTCTCTGGGCTCTGGCAG	0.632																																																	0			9											98.0	99.0	99.0					9																	98231179		2203	4300	6503	97271000	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2104C>T	9.37:g.98231179G>A	ENSP00000332353:p.Pro702Ser		97271000	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350707	0.41599	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	4.8	4.8	0.61643	.	0.109676	0.64402	D	0.000006	D	0.88422	0.6432	N	0.20986	0.625	0.58432	D	0.999993	B;B;B;B	0.31274	0.317;0.08;0.035;0.014	B;B;B;B	0.33454	0.164;0.029;0.029;0.022	D	0.85585	0.1242	10	0.17832	T	0.49	-15.8702	18.1128	0.89541	0.0:0.0:1.0:0.0	.	551;636;701;702	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	S	702;636;551;551;138;636;551;701	ENSP00000332353:P702S;ENSP00000389744:P636S;ENSP00000399981:P551S;ENSP00000396135:P551S;ENSP00000410287:P636S;ENSP00000414823:P551S;ENSP00000364423:P701S	ENSP00000332353:P702S	P	-	1	0	PTCH1	97271000	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	4.813000	0.62620	2.501000	0.84356	0.551000	0.68910	CCA		0.632	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
GPR21	2844	hgsc.bcm.edu	37	9	125797414	125797414	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr9:125797414A>G	ENST00000373642.1	+	1	609	c.569A>G	c.(568-570)tAc>tGc	p.Y190C	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	190					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.Y190C(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ACCGACTCCTACTTCACCCTG	0.507																																																	1	Substitution - Missense(1)	ovary(1)	9											151.0	134.0	140.0					9																	125797414		2203	4300	6503	124837235	SO:0001583	missense	2844			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.569A>G	9.37:g.125797414A>G	ENSP00000362746:p.Tyr190Cys		124837235	B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356498	0.24598	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.74315	-0.83	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.536026	0.17626	U	0.167554	T	0.81786	0.4896	L	0.58354	1.805	0.22479	N	0.999064	D	0.71674	0.998	D	0.63113	0.911	T	0.74532	-0.3634	10	0.66056	D	0.02	-13.2237	12.124	0.53907	0.8569:0.1431:0.0:0.0	.	190	Q99679	GPR21_HUMAN	C	190	ENSP00000362746:Y190C	ENSP00000362746:Y190C	Y	+	2	0	GPR21	124837235	0.964000	0.33143	0.997000	0.53966	0.798000	0.45092	2.294000	0.43567	2.075000	0.62263	0.383000	0.25322	TAC		0.507	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294	
HSPA5	3309	hgsc.bcm.edu	37	9	128001075	128001075	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr9:128001075T>C	ENST00000324460.6	-	6	1231	c.1028A>G	c.(1027-1029)cAg>cGg	p.Q343R	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	343					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CAACACTTTCTGGACGGGCTT	0.388										Prostate(1;0.17)																																							0			9											72.0	71.0	71.0					9																	128001075		2203	4300	6503	127040896	SO:0001583	missense	3309				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1028A>G	9.37:g.128001075T>C	ENSP00000324173:p.Gln343Arg		127040896	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852733	0.71719	.	.	ENSG00000044574	ENST00000324460	T	0.00958	5.5	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.01029	0.0034	N	0.04355	-0.22	0.80722	D	1	P	0.34662	0.462	P	0.44394	0.448	T	0.76011	-0.3115	10	0.87932	D	0	-25.2689	12.5216	0.56062	0.0:0.0:0.0:1.0	.	343	P11021	GRP78_HUMAN	R	343	ENSP00000324173:Q343R	ENSP00000324173:Q343R	Q	-	2	0	HSPA5	127040896	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.036000	0.88901	1.536000	0.49237	0.460000	0.39030	CAG		0.388	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1		
CCDC183	84960	hgsc.bcm.edu	37	9	139694861	139694861	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr9:139694861C>G	ENST00000338005.6	+	5	494	c.459C>G	c.(457-459)aaC>aaG	p.N153K	RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.17_ENST00000456614.2_Missense_Mutation_p.N183K|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		153										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGCTGGAGAACAACATCGAGA	0.607																																																	0			9											40.0	46.0	44.0					9																	139694861		2050	4185	6235	138814682	SO:0001583	missense	84960																														ENST00000338005.6:c.459C>G	9.37:g.139694861C>G	ENSP00000338013:p.Asn153Lys		138814682	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867585	0.72065	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.38722	1.12	4.19	3.29	0.37713	.	0.000000	0.45126	U	0.000388	T	0.55242	0.1908	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49934	-0.8886	10	0.29301	T	0.29	-31.7025	8.2154	0.31507	0.0:0.8856:0.0:0.1144	.	153	Q5T5S1	K1984_HUMAN	K	153	ENSP00000338013:N153K	ENSP00000338013:N153K	N	+	3	2	KIAA1984	138814682	0.999000	0.42202	1.000000	0.80357	0.866000	0.49608	0.342000	0.19926	0.751000	0.32900	-0.704000	0.03662	AAC		0.607	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1		
GPR12	2835	hgsc.bcm.edu	37	13	27333439	27333439	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr13:27333439C>T	ENST00000381436.2	-	1	988	c.526G>A	c.(526-528)Gtc>Atc	p.V176I	GPR12_ENST00000405846.3_Missense_Mutation_p.V176I			P47775	GPR12_HUMAN	G protein-coupled receptor 12	176					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CAGCCCATGACGGGCAGCAGC	0.597																																																	0			13											51.0	47.0	48.0					13																	27333439		2203	4300	6503	26231439	SO:0001583	missense	2835			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.526G>A	13.37:g.27333439C>T	ENSP00000370844:p.Val176Ile		26231439	Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	3.117	-0.181320	0.06380	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.36520	1.25;1.25	5.36	0.721	0.18219	GPCR, rhodopsin-like superfamily (1);	0.236354	0.42964	N	0.000627	T	0.16342	0.0393	N	0.11892	0.195	0.21841	N	0.999511	B	0.19073	0.033	B	0.19946	0.027	T	0.32134	-0.9918	10	0.07813	T	0.8	.	9.6996	0.40178	0.0:0.4994:0.0:0.5006	.	176	P47775	GPR12_HUMAN	I	176	ENSP00000384932:V176I;ENSP00000370844:V176I	ENSP00000370844:V176I	V	-	1	0	GPR12	26231439	0.001000	0.12720	0.292000	0.24919	0.946000	0.59487	0.002000	0.13061	-0.184000	0.10567	-0.224000	0.12420	GTC		0.597	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2		
RB1	5925	hgsc.bcm.edu	37	13	49033926	49033926	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr13:49033926T>C	ENST00000267163.4	+	20	2201	c.2063T>C	c.(2062-2064)cTg>cCg	p.L688P		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	688	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.L688P(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGCACACCCTGCAGAATGAG	0.443		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	27	Whole gene deletion(15)|Unknown(11)|Substitution - Missense(1)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|eye(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	13	GRCh37	CM074471	RB1	M							87.0	82.0	83.0					13																	49033926		2203	4300	6503	47931927	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2063T>C	13.37:g.49033926T>C	ENSP00000267163:p.Leu688Pro		47931927	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379557	0.82682	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.94000	-3.33	5.48	5.48	0.80851	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.64402	D	0.000007	D	0.97328	0.9126	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98283	1.0509	10	0.87932	D	0	-7.9392	15.5642	0.76277	0.0:0.0:0.0:1.0	.	688	P06400	RB_HUMAN	P	667;688	ENSP00000267163:L688P	ENSP00000267163:L688P	L	+	2	0	RB1	47931927	1.000000	0.71417	0.990000	0.47175	0.905000	0.53344	7.698000	0.84413	2.086000	0.62901	0.477000	0.44152	CTG		0.443	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
SLITRK6	84189	hgsc.bcm.edu	37	13	86368486	86368486	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr13:86368486T>C	ENST00000400286.2	-	2	2756	c.2158A>G	c.(2158-2160)Agt>Ggt	p.S720G		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	720					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.S720C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCAAAAGACTTCTTTGGAGA	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)	13											294.0	284.0	287.0					13																	86368486		1871	4112	5983	85266487	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2158A>G	13.37:g.86368486T>C	ENSP00000383143:p.Ser720Gly		85266487	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.231399	0.39399	.	.	ENSG00000184564	ENST00000400286	T	0.58060	0.36	5.84	5.84	0.93424	.	0.000000	0.85682	U	0.000000	T	0.33990	0.0882	N	0.08118	0	0.45403	D	0.998384	B	0.26081	0.141	B	0.25614	0.062	T	0.18429	-1.0337	10	0.27785	T	0.31	-7.7815	15.0542	0.71901	0.0:0.0:0.0:1.0	.	720	Q9H5Y7	SLIK6_HUMAN	G	720	ENSP00000383143:S720G	ENSP00000383143:S720G	S	-	1	0	SLITRK6	85266487	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.763000	0.62257	2.228000	0.72767	0.533000	0.62120	AGT		0.398	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
ERCC5	2073	hgsc.bcm.edu	37	13	103510653	103510653	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr13:103510653T>C	ENST00000355739.4	+	6	1980	c.557T>C	c.(556-558)aTa>aCa	p.I186T	ERCC5_ENST00000535557.1_Missense_Mutation_p.I186T|BIVM-ERCC5_ENST00000602836.1_Silent_p.D611D	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	186					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.I186T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCTCAAGCGATAGATATTGAG	0.363			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	1	Substitution - Missense(1)	ovary(1)	13											94.0	95.0	95.0					13																	103510653		2203	4300	6503	102308654	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.557T>C	13.37:g.103510653T>C	ENSP00000347978:p.Ile186Thr		102308654	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.166924	0.57476	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557;ENST00000375955	T;T	0.17854	2.25;2.25	5.31	5.31	0.75309	.	0.252736	0.41500	D	0.000871	T	0.32164	0.0820	M	0.73962	2.25	0.47737	D	0.999502	P;D;P	0.54964	0.956;0.969;0.829	P;P;B	0.50049	0.629;0.462;0.322	T	0.15206	-1.0445	10	0.72032	D	0.01	-9.7192	15.2802	0.73778	0.0:0.0:0.0:1.0	.	186;186;611	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	T	611;186;186;18	ENSP00000347978:I186T;ENSP00000442117:I186T	ENSP00000347978:I186T	I	+	2	0	ERCC5	102308654	1.000000	0.71417	0.817000	0.32601	0.935000	0.57460	7.384000	0.79751	2.000000	0.58554	0.533000	0.62120	ATA		0.363	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1		
KIAA1462	57608	hgsc.bcm.edu	37	10	30315078	30315078	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr10:30315078C>T	ENST00000375377.1	-	3	4100	c.3999G>A	c.(3997-3999)ccG>ccA	p.P1333P		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1333					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTTGTGCTGCCGGATGCTCCT	0.547																																																	0			10											125.0	122.0	123.0					10																	30315078		2037	4201	6238	30355084	SO:0001819	synonymous_variant	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3999G>A	10.37:g.30315078C>T			30355084	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	CCDS41500.1																																																																																				0.547	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
ARHGAP22	58504	hgsc.bcm.edu	37	10	49658681	49658681	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr10:49658681C>T	ENST00000249601.4	-	9	1787	c.1491G>A	c.(1489-1491)gcG>gcA	p.A497A	ARHGAP22_ENST00000477708.2_Silent_p.A330A|ARHGAP22_ENST00000417912.2_Silent_p.A513A|ARHGAP22_ENST00000417247.2_Silent_p.A407A|ARHGAP22_ENST00000435790.2_Silent_p.A503A|ARHGAP22_ENST00000374170.1_Silent_p.A338A|ARHGAP22_ENST00000374172.1_Silent_p.A388A	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	497	Ser-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGGCCCGGCGCGGGCACAT	0.716																																																	0			10											8.0	10.0	9.0					10																	49658681		2059	4028	6087	49328687	SO:0001819	synonymous_variant	58504			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1491G>A	10.37:g.49658681C>T			49328687	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	CCDS7227.1																																																																																				0.716	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226	
P4HA1	5033	hgsc.bcm.edu	37	10	74804762	74804762	+	Silent	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr10:74804762C>T	ENST00000307116.2	-	9	1241	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	P4HA1_ENST00000412021.2_Silent_p.T375T|P4HA1_ENST00000373008.2_Intron|P4HA1_ENST00000440381.1_Intron|P4HA1_ENST00000263556.3_Intron|P4HA1_ENST00000394890.2_Silent_p.T375T			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	375					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGTAATGTACCGTCTCCAAGT	0.373																																					Colon(147;367 2405 2662 52127)												0			10											144.0	143.0	143.0					10																	74804762		1875	4102	5977	74474768	SO:0001819	synonymous_variant	5033				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1125G>A	10.37:g.74804762C>T			74474768	C9JL12|Q15082|Q15083|Q5VSQ5	Silent	SNP	ENST00000307116.2	37																																																																																					0.373	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917	
PDCD11	22984	hgsc.bcm.edu	37	10	105204330	105204330	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr10:105204330C>T	ENST00000369797.3	+	35	5429	c.5335C>T	c.(5335-5337)Cgg>Tgg	p.R1779W		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1779					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.R1779W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGATGCAGAGCGGGCCAAAGC	0.547																																																	1	Substitution - Missense(1)	central_nervous_system(1)	10											134.0	107.0	116.0					10																	105204330		2203	4300	6503	105194320	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5335C>T	10.37:g.105204330C>T	ENSP00000358812:p.Arg1779Trp		105194320	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210380	0.79240	.	.	ENSG00000148843	ENST00000369797	T	0.56275	0.47	5.57	4.65	0.58169	Tetratricopeptide-like helical (1);Suppressor of forked (1);Tetratricopeptide repeat-containing (1);	0.242285	0.39407	N	0.001369	T	0.77384	0.4122	M	0.89715	3.055	0.52501	D	0.999954	D	0.89917	1.0	D	0.78314	0.991	T	0.83241	-0.0058	10	0.87932	D	0	-20.5552	15.6725	0.77289	0.1383:0.8617:0.0:0.0	.	1779	Q14690	RRP5_HUMAN	W	1779	ENSP00000358812:R1779W	ENSP00000358812:R1779W	R	+	1	2	PDCD11	105194320	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	3.116000	0.50399	1.315000	0.45114	0.561000	0.74099	CGG		0.547	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
WDR11	55717	hgsc.bcm.edu	37	10	122633433	122633433	+	Silent	SNP	C	C	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr10:122633433C>A	ENST00000263461.6	+	11	1800	c.1554C>A	c.(1552-1554)gtC>gtA	p.V518V		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CATGTGAAGTCAAGTAAGTAT	0.368																																																	0			10											159.0	128.0	138.0					10																	122633433		2203	4300	6503	122623423	SO:0001819	synonymous_variant	55717			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1554C>A	10.37:g.122633433C>A			122623423	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	CCDS7619.1																																																																																				0.368	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		
DNAH5	1767	hgsc.bcm.edu	37	5	13717498	13717498	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:13717498C>A	ENST00000265104.4	-	73	12735	c.12631G>T	c.(12631-12633)Gaa>Taa	p.E4211*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4211	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGTTAAATTCGTAGGGGATA	0.542									Kartagener syndrome																																								0			5											71.0	63.0	66.0					5																	13717498		2203	4300	6503	13770498	SO:0001587	stop_gained	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12631G>T	5.37:g.13717498C>A	ENSP00000265104:p.Glu4211*		13770498	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	54	23.268893	0.99954	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.45	4.58	0.56647	.	0.101878	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.8576	0.63537	0.0:0.9268:0.0:0.0732	.	.	.	.	X	4211	.	ENSP00000265104:E4211X	E	-	1	0	DNAH5	13770498	1.000000	0.71417	0.956000	0.39512	0.935000	0.57460	7.798000	0.85924	1.301000	0.44836	0.655000	0.94253	GAA		0.542	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	hgsc.bcm.edu	37	5	13894787	13894787	+	Silent	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:13894787A>G	ENST00000265104.4	-	16	2507	c.2403T>C	c.(2401-2403)gcT>gcC	p.A801A	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	801	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCTAAATAAGCCTCAATAT	0.403									Kartagener syndrome																																								0			5											126.0	119.0	122.0					5																	13894787		2203	4300	6503	13947787	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2403T>C	5.37:g.13894787A>G			13947787	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
CDH18	1016	hgsc.bcm.edu	37	5	19838903	19838903	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:19838903C>T	ENST00000507958.1	-	5	1183	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	CDH18_ENST00000511273.1_Missense_Mutation_p.E65K|CDH18_ENST00000274170.4_Missense_Mutation_p.E65K|CDH18_ENST00000502796.1_Missense_Mutation_p.E65K|CDH18_ENST00000382275.1_Missense_Mutation_p.E65K|CDH18_ENST00000506372.1_Missense_Mutation_p.E65K			Q13634	CAD18_HUMAN	cadherin 18, type 2	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E65*(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCATATGTTCTTCTAAAACA	0.398																																																	1	Substitution - Nonsense(1)	large_intestine(1)	5											141.0	123.0	129.0					5																	19838903		2203	4300	6503	19874660	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.193G>A	5.37:g.19838903C>T	ENSP00000425093:p.Glu65Lys		19874660	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459777	0.96240	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.00565	6.56;6.56;6.56;6.56;6.56;6.56;6.56	5.93	5.93	0.95920	Cadherin (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.04815	0.0130	H	0.96111	3.77	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.78314	0.965;0.991	T	0.01323	-1.1385	9	.	.	.	.	18.9006	0.92440	0.0:1.0:0.0:0.0	.	65;65	B4DHG6;Q13634	.;CAD18_HUMAN	K	65;65;65;65;65;65;11;65	ENSP00000371710:E65K;ENSP00000425093:E65K;ENSP00000274170:E65K;ENSP00000424931:E65K;ENSP00000422138:E65K;ENSP00000427383:E11K;ENSP00000425854:E65K	.	E	-	1	0	CDH18	19874660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.805000	0.96524	0.655000	0.94253	GAA		0.398	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
ENC1	8507	hgsc.bcm.edu	37	5	73931301	73931301	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:73931301G>A	ENST00000302351.4	-	2	2140	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	ENC1_ENST00000510316.1_Missense_Mutation_p.A264V|ENC1_ENST00000537006.1_Missense_Mutation_p.A337V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	337					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GCAGCCAATCGCACATGCACT	0.483																																																	0			5											121.0	131.0	128.0					5																	73931301		2203	4300	6503	73967057	SO:0001583	missense	8507			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1010C>T	5.37:g.73931301G>A	ENSP00000306356:p.Ala337Val		73967057	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515857	0.85495	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.72615	-0.67;-0.67;-0.67	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	N	0.25647	0.755	0.80722	D	1	D	0.56287	0.975	P	0.56127	0.792	T	0.62015	-0.6943	10	0.06625	T	0.88	.	20.2566	0.98424	0.0:0.0:1.0:0.0	.	337	O14682	ENC1_HUMAN	V	337;264;337	ENSP00000306356:A337V;ENSP00000423804:A264V;ENSP00000446289:A337V	ENSP00000306356:A337V	A	-	2	0	ENC1	73967057	1.000000	0.71417	0.964000	0.40570	0.985000	0.73830	9.869000	0.99810	2.793000	0.96121	0.561000	0.74099	GCG		0.483	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633	
PPIP5K2	23262	hgsc.bcm.edu	37	5	102474135	102474135	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:102474135G>A	ENST00000358359.3	+	5	958	c.449G>A	c.(448-450)cGt>cAt	p.R150H	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R150H|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.R150H	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	150					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTACTTCCTCGTTATGCTATT	0.363																																																	0			5											97.0	95.0	96.0					5																	102474135		2202	4299	6501	102502034	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.449G>A	5.37:g.102474135G>A	ENSP00000351126:p.Arg150His		102502034	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	G	34	5.333969	0.95758	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	T;T;T;T	0.16196	2.37;3.05;2.36;2.37	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.47322	0.1439	M	0.91090	3.175	0.80722	D	1	D;D;D	0.67145	0.974;0.996;0.994	P;P;P	0.59595	0.764;0.86;0.803	T	0.61143	-0.7122	10	0.87932	D	0	.	16.5739	0.84632	0.0:0.0:1.0:0.0	.	72;150;150	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	H	150;72;150;150;150;80	ENSP00000313070:R150H;ENSP00000422525:R72H;ENSP00000351126:R150H;ENSP00000416016:R150H	ENSP00000313070:R150H	R	+	2	0	PPIP5K2	102502034	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.199000	0.95003	2.413000	0.81919	0.585000	0.79938	CGT		0.363	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	
APC	324	hgsc.bcm.edu	37	5	112162891	112162891	+	Nonsense_Mutation	SNP	C	C	T	rs137854580		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:112162891C>T	ENST00000457016.1	+	12	1875	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	APC_ENST00000257430.4_Nonsense_Mutation_p.R499*|CTC-554D6.1_ENST00000520401.1_5'Flank|APC_ENST00000508376.2_Nonsense_Mutation_p.R499*			P25054	APC_HUMAN	adenomatous polyposis coli	499	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R499*(5)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TACACTAAGACGATATGCTGG	0.373		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	6	Substitution - Nonsense(5)|Unknown(1)	large_intestine(5)|skin(1)	5	GRCh37	CM930023	APC	M	rs137854580						135.0	123.0	127.0					5																	112162891		2202	4300	6502	112190790	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1495C>T	5.37:g.112162891C>T	ENSP00000413133:p.Arg499*		112190790	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.025077	0.98616	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.85	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3767	14.9298	0.70906	0.2732:0.7267:0.0:0.0	.	.	.	.	X	499;481;499;499;499	.	ENSP00000257430:R499X	R	+	1	2	APC	112190790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.513000	0.35823	1.461000	0.47929	0.655000	0.94253	CGA		0.373	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112173603	112173603	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:112173603A>G	ENST00000457016.1	+	16	2692	c.2312A>G	c.(2311-2313)gAa>gGa	p.E771G	APC_ENST00000257430.4_Missense_Mutation_p.E771G|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E771G			P25054	APC_HUMAN	adenomatous polyposis coli	771	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E771G(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CACTTATCAGAAACTTTTGAC	0.388		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	5											58.0	59.0	59.0					5																	112173603		2202	4300	6502	112201502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2312A>G	5.37:g.112173603A>G	ENSP00000413133:p.Glu771Gly		112201502	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773064	0.69992	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;T;D;D;T	0.92249	-3.0;0.88;-3.0;-3.0;0.88	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	M	0.71581	2.175	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.70016	0.936;0.967	D	0.95788	0.8822	10	0.72032	D	0.01	-23.7975	16.8061	0.85666	1.0:0.0:0.0:0.0	.	773;771	Q4LE70;P25054	.;APC_HUMAN	G	771;753;771;771;771	ENSP00000413133:E771G;ENSP00000423224:E753G;ENSP00000257430:E771G;ENSP00000427089:E771G;ENSP00000423828:E771G	ENSP00000257430:E771G	E	+	2	0	APC	112201502	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	GAA		0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112174743	112174743	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:112174743A>G	ENST00000457016.1	+	16	3832	c.3452A>G	c.(3451-3453)gAa>gGa	p.E1151G	APC_ENST00000257430.4_Missense_Mutation_p.E1151G|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E1151G			P25054	APC_HUMAN	adenomatous polyposis coli	1151	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCTGAAGAAGAACAGCATGAA	0.328		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)	5											61.0	60.0	60.0					5																	112174743		2202	4300	6502	112202642	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3452A>G	5.37:g.112174743A>G	ENSP00000413133:p.Glu1151Gly		112202642	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.909575	0.52439	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.76	4.6	0.57074	.	0.071969	0.56097	N	0.000029	D	0.89615	0.6766	L	0.27053	0.805	0.46521	D	0.999088	B;D	0.76494	0.0;0.999	B;D	0.81914	0.0;0.995	D	0.88663	0.3190	10	0.44086	T	0.13	-11.3568	11.7089	0.51614	0.931:0.0:0.069:0.0	.	1153;1151	Q4LE70;P25054	.;APC_HUMAN	G	1151;1133;1151;1151;1151	ENSP00000413133:E1151G;ENSP00000423224:E1133G;ENSP00000257430:E1151G;ENSP00000427089:E1151G;ENSP00000423828:E1151G	ENSP00000257430:E1151G	E	+	2	0	APC	112202642	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.297000	0.72757	1.021000	0.39600	0.533000	0.62120	GAA		0.328	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175198	112175198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:112175198C>T	ENST00000457016.1	+	16	4287	c.3907C>T	c.(3907-3909)Caa>Taa	p.Q1303*	APC_ENST00000257430.4_Nonsense_Mutation_p.Q1303*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1303*			P25054	APC_HUMAN	adenomatous polyposis coli	1303	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q1303*(15)|p.T1301fs*10(3)|p.L1302fs*11(2)|p.?(1)|p.Q1303fs*12(1)|p.T1293fs*2(1)|p.K1192fs*3(1)|p.I1304fs*14(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAATACCCTGCAAATAGCAGA	0.408		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	25	Substitution - Nonsense(15)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Unknown(1)	large_intestine(23)|soft_tissue(1)|skin(1)	5	GRCh37	CM994441	APC	M							52.0	54.0	53.0					5																	112175198		2202	4300	6502	112203097	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3907C>T	5.37:g.112175198C>T	ENSP00000413133:p.Gln1303*		112203097	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.579943	0.97680	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.73	4.84	0.62591	.	0.317892	0.34986	N	0.003538	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.4727	14.3231	0.66499	0.2698:0.7302:0.0:0.0	.	.	.	.	X	1303	.	.	Q	+	1	0	APC	112203097	1.000000	0.71417	0.993000	0.49108	0.822000	0.46500	4.360000	0.59455	1.515000	0.48885	0.655000	0.94253	CAA		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175678	112175678	+	Missense_Mutation	SNP	A	A	G	rs387906235		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:112175678A>G	ENST00000457016.1	+	16	4767	c.4387A>G	c.(4387-4389)Aga>Gga	p.R1463G	APC_ENST00000257430.4_Missense_Mutation_p.R1463G|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.R1463G			P25054	APC_HUMAN	adenomatous polyposis coli	1463	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1464fs*8(8)|p.S1465fs*3(8)|p.R1463*(1)|p.K1454fs*3(1)|p.K1192fs*3(1)|p.K1462fs*5(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGCTGAAAAGAGAGAGAGTGG	0.453		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	21	Deletion - Frameshift(18)|Substitution - Nonsense(1)|Unknown(1)|Complex - frameshift(1)	large_intestine(17)|thyroid(1)|NS(1)|soft_tissue(1)|skin(1)	5											84.0	79.0	81.0					5																	112175678		2202	4300	6502	112203577	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4387A>G	5.37:g.112175678A>G	ENSP00000413133:p.Arg1463Gly		112203577	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	8.392	0.839860	0.16891	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89617	-2.54;-2.54;-2.54	5.96	3.49	0.39957	.	0.094899	0.64402	D	0.000001	D	0.82852	0.5127	L	0.40543	1.245	0.39935	D	0.974336	B;B	0.23735	0.09;0.09	B;B	0.16722	0.016;0.016	T	0.74968	-0.3483	9	.	.	.	-16.6113	12.9433	0.58359	0.7447:0.2553:0.0:0.0	.	1465;1463	Q4LE70;P25054	.;APC_HUMAN	G	1463	ENSP00000413133:R1463G;ENSP00000257430:R1463G;ENSP00000427089:R1463G	.	R	+	1	2	APC	112203577	1.000000	0.71417	0.995000	0.50966	0.659000	0.38960	3.477000	0.53151	0.457000	0.26962	-0.321000	0.08615	AGA		0.453	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
ADAMTS19	171019	hgsc.bcm.edu	37	5	129070665	129070665	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:129070665T>C	ENST00000274487.4	+	22	3480	c.3335T>C	c.(3334-3336)aTc>aCc	p.I1112T	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1112	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCCCGTGTAATCCAATGCATG	0.383																																																	0			5											102.0	101.0	101.0					5																	129070665		2203	4300	6503	129098564	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3335T>C	5.37:g.129070665T>C	ENSP00000274487:p.Ile1112Thr		129098564		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120656	0.77323	.	.	ENSG00000145808	ENST00000274487	T	0.50548	0.74	4.26	4.26	0.50523	.	0.280714	0.28001	N	0.016983	T	0.52224	0.1721	L	0.37800	1.135	0.50632	D	0.999888	D	0.63046	0.992	P	0.58013	0.831	T	0.48736	-0.9009	9	.	.	.	.	14.4332	0.67264	0.0:0.0:0.0:1.0	.	1112	Q8TE59	ATS19_HUMAN	T	1112	ENSP00000274487:I1112T	.	I	+	2	0	ADAMTS19	129098564	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.279000	0.78599	2.149000	0.67028	0.477000	0.44152	ATC		0.383	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
PCDHA6	56142	hgsc.bcm.edu	37	5	140209752	140209752	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:140209752G>A	ENST00000529310.1	+	1	2190	c.2076G>A	c.(2074-2076)gcG>gcA	p.A692A	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	692					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGGCGGCGCTGGTGGATG	0.672																																																	0			5											46.0	50.0	48.0					5																	140209752		2201	4293	6494	140189936	SO:0001819	synonymous_variant	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2076G>A	5.37:g.140209752G>A			140189936	O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	CCDS47281.1																																																																																				0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHGA6	56109	hgsc.bcm.edu	37	5	140755454	140755454	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:140755454G>A	ENST00000517434.1	+	1	1804	c.1804G>A	c.(1804-1806)Gcc>Acc	p.A602T	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	602	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCAGAACGCCTGGCTGTC	0.697																																																	0			5											32.0	40.0	37.0					5																	140755454		2200	4293	6493	140735638	SO:0001583	missense	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1804G>A	5.37:g.140755454G>A	ENSP00000429601:p.Ala602Thr		140735638	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.997278	0.74818	.	.	ENSG00000253731	ENST00000517434	T	0.60797	0.16	4.75	2.95	0.34219	Cadherin (4);Cadherin-like (1);	0.000000	0.30901	U	0.008642	T	0.78432	0.4282	M	0.92268	3.29	0.29298	N	0.868864	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.983	T	0.74763	-0.3555	10	0.87932	D	0	.	9.6554	0.39923	0.0739:0.0:0.7846:0.1414	.	602;602	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	T	602	ENSP00000429601:A602T	ENSP00000429601:A602T	A	+	1	0	PCDHGA6	140735638	1.000000	0.71417	0.970000	0.41538	0.945000	0.59286	4.686000	0.61700	0.718000	0.32166	0.558000	0.71614	GCC		0.697	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919	
GRPEL2	134266	hgsc.bcm.edu	37	5	148730567	148730567	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:148730567G>T	ENST00000329271.3	+	4	510	c.400G>T	c.(400-402)Gag>Tag	p.E134*	GRPEL2_ENST00000507562.1_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_Silent_p.L106L	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	134					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGGAGCCTGAGGACCAAAA	0.483																																																	0			5											95.0	97.0	96.0					5																	148730567		2203	4300	6503	148710760	SO:0001587	stop_gained	134266			AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.400G>T	5.37:g.148730567G>T	ENSP00000329558:p.Glu134*		148710760	B4DFA6|Q49AJ6	Nonsense_Mutation	SNP	ENST00000329271.3	37	CCDS4295.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269979	0.40095	.	.	ENSG00000164284	ENST00000329271	.	.	.	5.95	4.13	0.48395	.	0.499437	0.20114	N	0.098942	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-16.1984	5.8756	0.18826	0.1501:0.3358:0.5141:0.0	.	.	.	.	X	134	.	ENSP00000329558:E134X	E	+	1	0	GRPEL2	148710760	0.414000	0.25408	0.870000	0.34147	0.014000	0.08584	3.534000	0.53568	0.801000	0.34066	0.655000	0.94253	GAG		0.483	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252327.1	NM_152407	
HMGXB3	22993	hgsc.bcm.edu	37	5	149421418	149421418	+	Silent	SNP	G	G	A			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:149421418G>A	ENST00000502717.1	+	15	3080	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	HMGXB3_ENST00000503427.1_Silent_p.E840E	NM_014983.2	NP_055798	Q12766	HMGX3_HUMAN	HMG box domain containing 3	1118					phosphorylation (GO:0016310)	nucleus (GO:0005634)	DNA binding (GO:0003677)|kinase activity (GO:0016301)			central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2)	9						GGGCCTTTGAGTGCCTCACTG	0.532																																																	0			5											140.0	110.0	119.0					5																	149421418		692	1591	2283	149401611	SO:0001819	synonymous_variant	22993			D83778	CCDS54935.1	5q33.1	2011-07-01		2009-01-05	ENSG00000113716	ENSG00000113716		"""High mobility group / Non-canonical"""	28982	protein-coding gene	gene with protein product				HMGX3		8724849	Standard	NM_014983		Approved	SMF, KIAA0194	uc003lrk.4	Q12766	OTTHUMG00000163493	ENST00000502717.1:c.2616G>A	5.37:g.149421418G>A			149401611	G5E9Y4|Q86UG3|Q9UMF4	Silent	SNP	ENST00000502717.1	37	CCDS54935.1																																																																																				0.532	HMGXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373771.1	XM_001717202	
GRM6	2916	hgsc.bcm.edu	37	5	178413956	178413956	+	Silent	SNP	G	G	A	rs143351800	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:178413956G>A	ENST00000517717.1	-	8	1421	c.1383C>T	c.(1381-1383)aaC>aaT	p.N461N	GRM6_ENST00000231188.5_Silent_p.N461N|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	461					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTCCGTTCTCGTTGAACATCA	0.662													G|||	5	0.000998403	0.0	0.0014	5008	,	,		17812	0.003		0.001	False		,,,				2504	0.0																0			5						G		0,4406		0,0,2203	66.0	57.0	60.0		1383	-7.3	0.9	5	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRM6	NM_000843.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		461/878	178413956	2,13004	2203	4300	6503	178346562	SO:0001819	synonymous_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1383C>T	5.37:g.178413956G>A			178346562		Silent	SNP	ENST00000517717.1	37	CCDS4442.1																																																																																				0.662	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
CRYBB3	1417	hgsc.bcm.edu	37	22	25597342	25597342	+	Splice_Site	SNP	A	A	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr22:25597342A>G	ENST00000215855.2	+	2	60		c.e2-1		CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3						visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						TTTGGTTTGAAGCCAGAGGTG	0.577																																																	0			22											74.0	78.0	77.0					22																	25597342		2203	4300	6503	23927342	SO:0001630	splice_region_variant	1417				CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.-20-1A>G	22.37:g.25597342A>G			23927342	Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Splice_Site	SNP	ENST00000215855.2	37	CCDS13830.1																																																																																				0.577	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076	Intron
SNTG1	54212	hgsc.bcm.edu	37	8	51306773	51306773	+	5'UTR	SNP	C	C	T	rs200545009		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr8:51306773C>T	ENST00000522124.1	+	0	636				SNTG1_ENST00000518864.1_5'UTR|SNTG1_ENST00000517473.1_5'UTR|SNTG1_ENST00000276467.5_5'UTR	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTTTTCAGACGACATCCTTT	0.443																																																	0			8						C		0,4406		0,0,2203	105.0	98.0	100.0			1.3	0.5	8		100	1,8599	1.2+/-3.3	0,1,4299	no	utr-5	SNTG1	NM_018967.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			51306773	1,13005	2203	4300	6503	51469326	SO:0001623	5_prime_UTR_variant	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.-26C>T	8.37:g.51306773C>T			51469326	Q2M3Q0|Q9NY98	Splice_Site	SNP	ENST00000522124.1	37	CCDS6147.1																																																																																				0.443	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		
MEGF6	1953	hgsc.bcm.edu	37	1	3413261	3413262	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:3413261_3413262insG	ENST00000356575.4	-	29	3925_3926	c.3699_3700insC	c.(3697-3702)gcctgcfs	p.C1234fs	MEGF6_ENST00000294599.4_Frame_Shift_Ins_p.C999fs	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1234	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGGCAGCGGCAGGCCCCCGTGG	0.688																																					Ovarian(73;978 3658)												0			1																																								3403122	SO:0001589	frameshift_variant	1953			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3700dupC	1.37:g.3413263_3413263dupG	ENSP00000348982:p.Cys1234fs		3403121	Q4AC86|Q5VV39	Frame_Shift_Ins	INS	ENST00000356575.4	37	CCDS41237.1																																																																																				0.688	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409	
FMN2	56776	hgsc.bcm.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261|rs140531536	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	GGC	GGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)ggcdel	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665														3539	0.706669	0.7821	0.7507	5008	,	,		10143	0.4514		0.7893	False		,,,				2504	0.7515																1	Deletion - In frame(1)	prostate(1)	1																																								238322194	SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.160_162delGGC	1.37:g.240255578_240255580delGGC	ENSP00000318884:p.Gly59del		238322192	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				0.665	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
ZFP36L2	678	hgsc.bcm.edu	37	2	43452439	43452440	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr2:43452439_43452440insC	ENST00000282388.3	-	2	796_797	c.503_504insG	c.(502-504)tgcfs	p.C168fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	168					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGCCGTACTTGCACGTGCCGCT	0.634																																																	0			2																																								43305944	SO:0001589	frameshift_variant	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.504dupG	2.37:g.43452440_43452440dupC	ENSP00000282388:p.Cys168fs		43305943	Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	CCDS1811.1																																																																																				0.634	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887	
KCNH8	131096	hgsc.bcm.edu	37	3	19295236	19295236	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr3:19295236delC	ENST00000328405.2	+	2	433	c.167delC	c.(166-168)gccfs	p.A56fs		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	56	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCTGGATTTGCCCGAACTGAA	0.458																																					NSCLC(124;1625 1765 8018 24930 42026)												0			3											176.0	182.0	180.0					3																	19295236		2203	4300	6503	19270240	SO:0001589	frameshift_variant	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.167delC	3.37:g.19295236delC	ENSP00000328813:p.Ala56fs		19270240	B7Z2I7|Q59GQ6	Frame_Shift_Del	DEL	ENST00000328405.2	37	CCDS2632.1																																																																																				0.458	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
UBA7	7318	hgsc.bcm.edu	37	3	49845298	49845299	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr3:49845298_49845299insC	ENST00000333486.3	-	21	2743_2744	c.2585_2586insG	c.(2584-2586)ggcfs	p.G862fs	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	862					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGCCCAACAGGCCTGCCACAGC	0.569																																																	0			3																																								49820303	SO:0001589	frameshift_variant	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2586dupG	3.37:g.49845300_49845300dupC	ENSP00000333266:p.Gly862fs		49820302	Q9BRB2	Frame_Shift_Ins	INS	ENST00000333486.3	37	CCDS2805.1																																																																																				0.569	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335	
MUC4	4585	hgsc.bcm.edu	37	3	195505908	195505955	+	In_Frame_Del	DEL	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	-	rs573106893|rs374377441|rs201002111|rs558861219|rs574445078|rs577069816|rs201499581|rs55789594|rs543820459|rs200786826|rs377017763|rs199963450	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr3:195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENST00000463781.3	-	2	12955_13002	c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	c.(12496-12543)gcttcctcagtgtccacaggtcacggcacccctcttcctgtcaccagcdel	p.ASSVSTGHGTPLPVTS4166del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.ASSVSTGHGTPLPVTS4166del|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A4166_S4181delASSVSTGHGTPLPVTS(2)|p.V4169V(1)|p.A4166T(1)|p.V4169A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACA	0.585																																																	5	Substitution - Missense(2)|Deletion - In frame(2)|Substitution - coding silent(1)	stomach(4)|upper_aerodigestive_tract(1)	3							,,	336,2928		86,164,1382					,,		0.0			13	856,5568		218,420,2574	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	304,584,3956	A1A1,A1R,RR		13.325,10.2941,12.3039	,,	,,		1192,8496				196990734	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	3.37:g.195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENSP00000417498:p.Ala4166_Ser4181del		196990687	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.585	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
PCDHA11	56138	hgsc.bcm.edu	37	5	140250778	140250778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr5:140250778delT	ENST00000398640.2	+	1	2090	c.2090delT	c.(2089-2091)gtgfs	p.V697fs	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	697					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTCAACGTGTACCTGATC	0.657																																																	0			5											45.0	47.0	46.0					5																	140250778		2203	4299	6502	140230962	SO:0001589	frameshift_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2090delT	5.37:g.140250778delT	ENSP00000381636:p.Val697fs		140230962	B2RN58|O75279	Frame_Shift_Del	DEL	ENST00000398640.2	37	CCDS47284.1																																																																																				0.657	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
HLA-DQA1	3117	hgsc.bcm.edu	37	6	32609239	32609241	+	In_Frame_Del	DEL	GGT	GGT	-	rs12722072|rs41556812|rs12722074|rs534654325	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	GGT	GGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr6:32609239_32609241delGGT	ENST00000343139.5	+	2	337_339	c.235_237delGGT	c.(235-237)ggtdel	p.G79del	HLA-DQA1_ENST00000395363.1_In_Frame_Del_p.G79del|HLA-DQA1_ENST00000374949.2_In_Frame_Del_p.G79del	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAATTTGGAGGTTTTGACCCGC	0.502														1751	0.349641	0.3646	0.4236	5008	,	,		12241	0.2669		0.4046	False		,,,				2504	0.3057																0			6																																								32717219	SO:0001651	inframe_deletion	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.235_237delGGT	6.37:g.32609239_32609241delGGT	ENSP00000339398:p.Gly79del		32717217	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	In_Frame_Del	DEL	ENST00000343139.5	37	CCDS4752.1																																																																																				0.502	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122	
ZNF862	643641	hgsc.bcm.edu	37	7	149559230	149559231	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr7:149559230_149559231insG	ENST00000223210.4	+	7	3226_3227	c.2981_2982insG	c.(2980-2985)ctgggcfs	p.LG994fs	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	994					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GAGGAGTGGCTGGGCCTGAAAA	0.574																																																	0			7																																								149190164	SO:0001589	frameshift_variant	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2984dupG	7.37:g.149559233_149559233dupG	ENSP00000223210:p.Leu994fs		149190163	A0AUL8	Frame_Shift_Ins	INS	ENST00000223210.4	37	CCDS47741.1																																																																																				0.574	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220	
GPRIN2	9721	hgsc.bcm.edu	37	10	46999591	46999592	+	In_Frame_Ins	INS	-	-	ATGAGGGAG	rs112620425	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr10:46999591_46999592insATGAGGGAG	ENST00000374317.1	+	3	984_985	c.711_712insATGAGGGAG	c.(712-714)atg>ATGAGGGAGatg	p.238_238M>MREM	GPRIN2_ENST00000374314.4_In_Frame_Ins_p.238_238M>MREM	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	238								p.G237_M238insMRE(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TACTCTGTGGCATGAGGGAGGT	0.629														2399	0.479034	0.4697	0.4856	5008	,	,		38874	0.4782		0.4761	False		,,,				2504	0.4908																1	Insertion - In frame(1)	breast(1)	10								2080,27,2157		11,3,2055,0,24,39						0.9	0.0		dbSNP_130	49	3974,98,4180		16,7,3935,0,91,77	no	codingComplex	GPRIN2	NM_014696.3		27,10,5990,0,115,116	A1A1,A1A2,A1R,A2A2,A2R,RR		49.3456,49.4137,49.3688				6054,125,6337				46419598	SO:0001652	inframe_insertion	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.712_720dupATGAGGGAG	10.37:g.46999592_46999600dupATGAGGGAG	Exception_encountered		46419597	Q5SVF0	In_Frame_Ins	INS	ENST00000374317.1	37	CCDS31192.1																																																																																				0.629	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
MUC2	4583	hgsc.bcm.edu	37	11	1092802	1092802	+	Frame_Shift_Del	DEL	A	A	-	rs528672869|rs534872608	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:1092802delA	ENST00000441003.2	+	30	4648	c.4621delA	c.(4621-4623)accfs	p.T1545fs	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Frame_Shift_Del_p.T1546fs|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cactcccatcaccaccaccac	0.627													|||unknown(ALL_OTHER_Ns)	1941	0.38758	0.3911	0.3876	5008	,	,		6166	0.3403		0.3777	False		,,,				2504	0.4417																0			11											25.0	50.0	41.0					11																	1092802		1636	2920	4556	1082802	SO:0001589	frameshift_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4621delA	11.37:g.1092802delA	ENSP00000415183:p.Thr1545fs		1082802	Q14878	Frame_Shift_Del	DEL	ENST00000441003.2	37																																																																																					0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
B3GNT6	192134	hgsc.bcm.edu	37	11	76751542	76751542	+	Frame_Shift_Del	DEL	T	T	-	rs11292198		TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr11:76751542delT	ENST00000533140.1	+	2	1085	c.947delT	c.(946-948)cttfs	p.L316fs	B3GNT6_ENST00000354301.5_Splice_Site_p.L316fs|B3GNT6_ENST00000421061.1_Intron			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GGCATGTGTCTTGGAGCGCGC	0.741													T|TT|T|insertion	5008	1.0	1.0	1.0	5008	,	,		12582	1.0		1.0	False		,,,				2504	1.0																0			11											1.0	1.0	1.0					11																	76751542		431	917	1348	76429190	SO:0001589	frameshift_variant	192134			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.947delT	11.37:g.76751542delT	ENSP00000435352:p.Leu316fs		76429190	Q4TTN0	Frame_Shift_Del	DEL	ENST00000533140.1	37	CCDS53681.1																																																																																				0.741	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706	
ZFYVE19	84936	hgsc.bcm.edu	37	15	41099899	41099900	+	Frame_Shift_Ins	INS	-	-	GGGGC	rs371684343|rs200042011|rs142730574|rs369585041	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr15:41099899_41099900insGGGGC	ENST00000355341.4	+	1	613_614	c.112_113insGGGGC	c.(112-114)tggfs	p.-40fs	ZFYVE19_ENST00000299173.10_Frame_Shift_Ins_p.-40fs|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000336455.5_Intron|ZFYVE19_ENST00000570108.1_Intron|DNAJC17_ENST00000220496.4_5'Flank	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19						abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGTGGGCGTGTGgggcggggca	0.718														1685	0.336462	0.3411	0.3112	5008	,	,		13821	0.2252		0.3777	False		,,,				2504	0.4202																0			15								1226,2460		247,732,864						2.0	0.3		dbSNP_130	17	2598,5206		494,1610,1798	no	frameshift	ZFYVE19	NM_001077268.1		741,2342,2662	A1A1,A1R,RR		33.2906,33.261,33.2811				3824,7666				38887192	SO:0001589	frameshift_variant	84936			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.118_122dupGGGGC	15.37:g.41099905_41099909dupGGGGC	ENSP00000347498:p.Gly40fs		38887191	B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Frame_Shift_Ins	INS	ENST00000355341.4	37	CCDS42025.1																																																																																				0.718	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850	
OTOA	146183	hgsc.bcm.edu	37	16	21734241	21734241	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr16:21734241delT	ENST00000286149.4	+	17	1865	c.1864delT	c.(1864-1866)tggfs	p.W622fs	OTOA_ENST00000388957.3_Frame_Shift_Del_p.W284fs|OTOA_ENST00000388958.3_Frame_Shift_Del_p.W608fs|OTOA_ENST00000388956.4_Frame_Shift_Del_p.W529fs			Q7RTW8	OTOAN_HUMAN	otoancorin	622					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTGTTTGGCGTGGAAATACTG	0.448																																																	0			16											116.0	102.0	107.0					16																	21734241		2198	4300	6498	21641742	SO:0001589	frameshift_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1864delT	16.37:g.21734241delT	ENSP00000286149:p.Trp622fs		21641742	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Frame_Shift_Del	DEL	ENST00000286149.4	37																																																																																					0.448	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
TMEM97	27346	hgsc.bcm.edu	37	17	26653807	26653807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr17:26653807delA	ENST00000226230.6	+	3	664	c.519delA	c.(517-519)agafs	p.R173fs	TMEM97_ENST00000336687.6_Frame_Shift_Del_p.R66fs|TMEM97_ENST00000583381.1_Frame_Shift_Del_p.R66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AAGAGAAAAGAAAAAAAAAAT	0.438																																																	1	Deletion - Frameshift(1)	lung(1)	17								25,25,4214		0,0,25,0,25,2082	59.0	56.0	57.0			2.6	1.0	17		58	45,41,8168		0,0,45,0,41,4041	no	codingComplex	TMEM97	NM_014573.2		0,0,70,0,66,6123	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0419,1.1726,1.0864			26653807	70,66,12382	2203	4300	6503	23677934	SO:0001589	frameshift_variant	27346			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.519delA	17.37:g.26653807delA	ENSP00000226230:p.Arg173fs		23677934	B4DS02|Q07823	Frame_Shift_Del	DEL	ENST00000226230.6	37	CCDS11226.2																																																																																				0.438	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573	
PLEKHM1	9842	hgsc.bcm.edu	37	17	43553015	43553016	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr17:43553015_43553016insC	ENST00000430334.3	-	4	506_507	c.373_374insG	c.(373-375)gccfs	p.A125fs	PLEKHM1_ENST00000421073.2_Frame_Shift_Ins_p.A36fs	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	125	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ATCGTTCAGGGCCAGCCGCAGC	0.614																																																	0			17																																								40908799	SO:0001589	frameshift_variant	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.374dupG	17.37:g.43553017_43553017dupC	ENSP00000389913:p.Ala125fs		40908798	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Frame_Shift_Ins	INS	ENST00000430334.3	37	CCDS32671.1																																																																																				0.614	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798	
HOXB1	3211	hgsc.bcm.edu	37	17	46608184	46608185	+	In_Frame_Ins	INS	-	-	GGGCGCTGT	rs534792734|rs145570960	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr17:46608184_46608185insGGGCGCTGT	ENST00000239174.6	-	1	174_175	c.82_83insACAGCGCCC	c.(82-84)cca>cACAGCGCCCca	p.27_28insHSA	HOXB1_ENST00000577092.1_In_Frame_Ins_p.27_28insHSA	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	27			A -> AHSA (in allele HOXB1*B). {ECO:0000269|PubMed:10671062, ECO:0000269|PubMed:11091361}.		anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.A27_P28insHSA(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAAGGAGGTTGGGGCGCTGTGG	0.619														667	0.133187	0.1157	0.1225	5008	,	,		17469	0.0982		0.2008	False		,,,				2504	0.1309																1	Insertion - In frame(1)	lung(1)	17								528,3732		33,462,1635						4.2	1.0		dbSNP_134	66	1685,6565		171,1343,2611	no	coding	HOXB1	NM_002144.3		204,1805,4246	A1A1,A1R,RR		20.4242,12.3944,17.6898				2213,10297				43963184	SO:0001652	inframe_insertion	3211				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.74_82dupACAGCGCCC	17.37:g.46608185_46608193dupGGGCGCTGT	ENSP00000355140:p.His25_Ala27dup		43963183	Q4VB03	In_Frame_Ins	INS	ENST00000239174.6	37	CCDS32675.1																																																																																				0.619	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3		
TUBB4A	10382	hgsc.bcm.edu	37	19	6495678	6495679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr19:6495678_6495679insG	ENST00000264071.2	-	4	1202_1203	c.831_832insC	c.(829-834)ggcagcfs	p.S278fs	TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.S278fs|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	278					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										TACTGCTGGCTGCCCCGGCTGG	0.668																																																	0			19																																								6446679	SO:0001589	frameshift_variant	10382			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.832dupC	19.37:g.6495679_6495679dupG	ENSP00000264071:p.Ser278fs		6446678	B3KQP4|Q969E5	Frame_Shift_Ins	INS	ENST00000264071.2	37	CCDS12168.1																																																																																				0.668	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087	
LTN1	26046	hgsc.bcm.edu	37	21	30339206	30339206	+	Frame_Shift_Del	DEL	T	T	-	rs560176639	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr21:30339206delT	ENST00000361371.5	-	10	1686	c.1607delA	c.(1606-1608)aatfs	p.N536fs	LTN1_ENST00000389195.2_Frame_Shift_Del_p.N582fs|LTN1_ENST00000389194.2_Frame_Shift_Del_p.N582fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	536					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.N536fs*33(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AACCTTACCATTTTTTTTTTT	0.378													|||unknown(HR)	455	0.0908546	0.1248	0.0461	5008	,	,		18798	0.0714		0.0586	False		,,,				2504	0.1299																1	Deletion - Frameshift(1)	ovary(1)	21											50.0	47.0	48.0					21																	30339206		2203	4300	6503	29261077	SO:0001589	frameshift_variant	0			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1607delA	21.37:g.30339206delT	ENSP00000354977:p.Asn536fs		29261077	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Del	DEL	ENST00000361371.5	37																																																																																					0.378	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
CDC42EP1	11135	hgsc.bcm.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859|rs13055845|rs77417880|rs62235033|rs62235034|rs187761157|rs66468174|rs200195385	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)ccagcgcctgctgcaaacccctca>cca	p.APAANPS254del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	254	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665																																																	3	Deletion - In frame(3)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	22								868,3338		98,672,1333						1.5	0.0		dbSNP_130	10	4310,3696		1298,1714,991	no	coding	CDC42EP1	NM_152243.2		1396,2386,2324	A1A1,A1R,RR		46.1654,20.6372,42.4009				5178,7034				36294375	SO:0001651	inframe_deletion	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.758_778delCAGCGCCTGCTGCAAACCCCT	22.37:g.37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENSP00000249014:p.Ala254_Ser260del		36294355	A8K825|Q96GN1	In_Frame_Del	DEL	ENST00000249014.4	37	CCDS13949.1																																																																																				0.665	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243	
BAIAP2L2	80115	hgsc.bcm.edu	37	22	38482353	38482394	+	In_Frame_Del	DEL	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	-	rs371997714|rs66500630|rs113792005|rs376182024|rs541462698|rs369923129|rs553799224	byFrequency	TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENST00000381669.3	-	12	1466_1507	c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	c.(1321-1365)atagcaccctcggagtactgggatggccagtcccgctcccgcacc>acc	p.IAPSEYWDGQSRSR441del	SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	441					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CGGCTTGGGGTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTATGGAGTTGCC	0.674														708	0.141374	0.0272	0.2291	5008	,	,		20774	0.0565		0.1918	False		,,,				2504	0.2689																0			22								138,3818		23,92,1863						2.2	0.8		dbSNP_130	20	1131,6525		291,549,2988	no	coding	BAIAP2L2	NM_025045.4		314,641,4851	A1A1,A1R,RR		14.7727,3.4884,10.9283				1269,10343				36812340	SO:0001651	inframe_deletion	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	22.37:g.38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENSP00000371085:p.Ile441_Arg454del		36812299	B0QYE2|Q96BG7	In_Frame_Del	DEL	ENST00000381669.3	37	CCDS43018.1																																																																																				0.674	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045	
MAOA	4128	hgsc.bcm.edu	37	X	43601226	43601227	+	In_Frame_Ins	INS	-	-	GAG			TCGA-AG-3742-01A-11D-1657-10	TCGA-AG-3742-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	48f3fa65-c79b-4f86-8d30-a692d0d5521b	17d4fb78-6e64-4aaf-b136-e270b18076b3	g.chrX:43601226_43601227insGAG	ENST00000338702.3	+	12	1317_1318	c.1194_1195insGAG	c.(1195-1197)gag>GAGgag	p.399_399E>EE	MAOA_ENST00000542639.1_In_Frame_Ins_p.266_266E>EE	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	399					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	AGAACTGGTGTGAGGAGCAGTA	0.455																																																	0			X																																								43486171	SO:0001652	inframe_insertion	4128				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.1198_1200dupGAG	X.37:g.43601230_43601232dupGAG	ENSP00000340684:p.Glu400dup		43486170	B4DF46|Q16426	In_Frame_Ins	INS	ENST00000338702.3	37	CCDS14260.1																																																																																				0.455	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240	
