#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_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
NXPH1	30010	hgsc.bcm.edu	37	7	8790960	8790960	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr7:8790960C>T	ENST00000405863.1	+	3	1288	c.377C>T	c.(376-378)tCc>tTc	p.S126F	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.S9F	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	126	III.					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GATTTTCATTCCAACATCAAA	0.428																																																	0			7											83.0	82.0	82.0					7																	8790960		1860	4096	5956	8757485	SO:0001583	missense	30010			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.377C>T	7.37:g.8790960C>T	ENSP00000384551:p.Ser126Phe	Somatic		Capture	Illumina HiSeq	Phase_I	8757485	Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370553	0.61624	.	.	ENSG00000122584	ENST00000405863;ENST00000417186;ENST00000438764;ENST00000429542	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	L	0.55990	1.75	0.80722	D	1	P	0.39022	0.655	B	0.43018	0.405	T	0.61118	-0.7127	9	0.35671	T	0.21	-12.742	20.8794	0.99867	0.0:1.0:0.0:0.0	.	126	P58417	NXPH1_HUMAN	F	126;9;126;126	.	ENSP00000384551:S126F	S	+	2	0	NXPH1	8757485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	TCC		NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745	
EGFR	1956	hgsc.bcm.edu	37	7	55242429	55242429	+	Silent	SNP	A	A	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr7:55242429A>G	ENST00000275493.2	+	19	2376	c.2199A>G	c.(2197-2199)ccA>ccG	p.P733P	EGFR_ENST00000454757.2_Silent_p.P680P|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.P688P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	733	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	TCTGGATCCCAGAAGGTGAGA	0.468		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"""	0			7											91.0	92.0	92.0					7																	55242429		2203	4300	6503	55209923	SO:0001819	synonymous_variant	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.2199A>G	7.37:g.55242429A>G		Somatic		Capture	Illumina HiSeq	Phase_I	55209923	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																				EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
WEE2	494551	hgsc.bcm.edu	37	7	141424833	141424833	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr7:141424833G>A	ENST00000397541.2	+	9	1635	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	410	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AAGGATTACCGGCACCTTCCC	0.468																																																	0			7											90.0	88.0	89.0					7																	141424833		1945	4149	6094	141071302	SO:0001583	missense	494551			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1229G>A	7.37:g.141424833G>A	ENSP00000380675:p.Arg410Gln	Somatic		Capture	Illumina HiSeq	Phase_I	141071302		Missense_Mutation	SNP	ENST00000397541.2	37	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799387	0.31869	.	.	ENSG00000214102	ENST00000397541	T	0.64618	-0.11	5.63	-3.84	0.04256	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.728220	0.12125	N	0.497339	T	0.45637	0.1352	L	0.28649	0.875	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.26710	-1.0095	10	0.15499	T	0.54	.	15.2585	0.73603	0.0842:0.0:0.8258:0.09	.	410	P0C1S8	WEE2_HUMAN	Q	410	ENSP00000380675:R410Q	ENSP00000380675:R410Q	R	+	2	0	WEE2	141071302	0.000000	0.05858	0.013000	0.15412	0.921000	0.55340	-0.114000	0.10757	-1.319000	0.02286	-0.345000	0.07892	CGG		WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558	
WDR86	349136	hgsc.bcm.edu	37	7	151093102	151093102	+	Silent	SNP	G	G	A	rs112396535	byFrequency	TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr7:151093102G>A	ENST00000334493.6	-	3	916	c.486C>T	c.(484-486)gcC>gcT	p.A162A	WDR86_ENST00000469830.2_Silent_p.A162A|WDR86_ENST00000477459.1_Silent_p.A34A|WDR86_ENST00000463000.1_5'Flank	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	162										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGCCCCCCGGCCGCGGCCT	0.721													G|||	10	0.00199681	0.0	0.0	5008	,	,		14750	0.0099		0.0	False		,,,				2504	0.0																0			7																																								150724035	SO:0001819	synonymous_variant	349136			AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.486C>T	7.37:g.151093102G>A		Somatic		Capture	Illumina HiSeq	Phase_I	150724035	B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Silent	SNP	ENST00000334493.6	37	CCDS5925.2																																																																																				WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285	
PHF20	51230	hgsc.bcm.edu	37	20	34457449	34457449	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr20:34457449C>T	ENST00000374012.3	+	7	1027	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	300					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCCATTAAAACGTCCTCGGCT	0.383																																																	0			20											147.0	146.0	146.0					20																	34457449		2203	4300	6503	33920863	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.898C>T	20.37:g.34457449C>T	ENSP00000363124:p.Arg300Cys	Somatic		Capture	Illumina HiSeq	Phase_I	33920863	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070619	0.76301	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.53206	1.26;0.63;0.63	5.5	5.5	0.81552	.	0.348813	0.30781	N	0.008894	T	0.64918	0.2642	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.953;0.996;0.926	T	0.66878	-0.5812	10	0.87932	D	0	.	14.2584	0.66067	0.149:0.851:0.0:0.0	.	300;300;300	Q566Q2;Q9BVI0;Q66K49	.;PHF20_HUMAN;.	C	300	ENSP00000363124:R300C;ENSP00000341900:R300C;ENSP00000363112:R300C	ENSP00000341900:R300C	R	+	1	0	PHF20	33920863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.790000	0.38734	2.587000	0.87381	0.591000	0.81541	CGT		PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436	
PLCG1	5335	hgsc.bcm.edu	37	20	39795345	39795345	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr20:39795345G>A	ENST00000373271.1	+	19	2552	c.2147G>A	c.(2146-2148)cGt>cAt	p.R716H	PLCG1_ENST00000244007.3_Missense_Mutation_p.R716H|PLCG1_ENST00000373272.2_Missense_Mutation_p.R716H	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	716	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AAGCATTGCCGTGTCCAGCAA	0.557																																																	0			20											137.0	124.0	128.0					20																	39795345		2203	4300	6503	39228759	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2147G>A	20.37:g.39795345G>A	ENSP00000362368:p.Arg716His	Somatic		Capture	Illumina HiSeq	Phase_I	39228759	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	35	5.561025	0.96527	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.66280	-0.2;-0.2;-0.2	5.9	5.9	0.94986	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.998;0.997	T	0.82522	-0.0415	10	0.56958	D	0.05	.	20.2748	0.98484	0.0:0.0:1.0:0.0	.	716;292;716;716	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	H	716	ENSP00000244007:R716H;ENSP00000362368:R716H;ENSP00000362369:R716H	ENSP00000244007:R716H	R	+	2	0	PLCG1	39228759	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.869000	0.99810	2.792000	0.96026	0.655000	0.94253	CGT		PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
STAU1	6780	hgsc.bcm.edu	37	20	47752392	47752392	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr20:47752392C>T	ENST00000371856.2	-	6	997	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	STAU1_ENST00000371792.1_Missense_Mutation_p.R115Q|STAU1_ENST00000371828.3_Missense_Mutation_p.R115Q|STAU1_ENST00000347458.5_Missense_Mutation_p.R115Q|STAU1_ENST00000371802.1_Missense_Mutation_p.R115Q|STAU1_ENST00000360426.4_Missense_Mutation_p.R115Q|STAU1_ENST00000340954.7_Missense_Mutation_p.R115Q	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	196	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.R196Q(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGGCAAGTTCCGTTTAAGTGC	0.323																																																	1	Substitution - Missense(1)	ovary(1)	20											102.0	93.0	96.0					20																	47752392		2202	4300	6502	47185799	SO:0001583	missense	6780				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.587G>A	20.37:g.47752392C>T	ENSP00000360922:p.Arg196Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47185799	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678151	0.96764	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	T;T;T;T;T;T;T;T	0.76316	-0.25;-1.01;-1.01;-1.01;-1.01;-0.25;-1.01;-0.25	5.77	5.77	0.91146	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.050019	0.85682	D	0.000000	D	0.87732	0.6251	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.984	D	0.88075	0.2803	10	0.87932	D	0	-12.9136	19.5894	0.95501	0.0:1.0:0.0:0.0	.	196;115	O95793;Q5JW29	STAU1_HUMAN;.	Q	115;115;196;115;115;115;115;115;115	ENSP00000360893:R115Q;ENSP00000345425:R115Q;ENSP00000360922:R196Q;ENSP00000353604:R115Q;ENSP00000323443:R115Q;ENSP00000360867:R115Q;ENSP00000360857:R115Q;ENSP00000416779:R115Q	ENSP00000345425:R115Q	R	-	2	0	STAU1	47185799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.603000	0.74145	2.720000	0.93068	0.557000	0.71058	CGG		STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453	
RBM38	55544	hgsc.bcm.edu	37	20	55982632	55982632	+	Silent	SNP	C	C	T	rs569633738		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr20:55982632C>T	ENST00000356208.5	+	4	625	c.450C>T	c.(448-450)atC>atT	p.I150I	RBM38_ENST00000371219.2_Silent_p.I69I|RBM38_ENST00000440234.2_3'UTR	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	150					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CACCAGCCATCGTGCAGCCCA	0.652																																																	0			20											35.0	46.0	43.0					20																	55982632		2172	4270	6442	55416038	SO:0001819	synonymous_variant	55544			X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.450C>T	20.37:g.55982632C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55416038	A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	CCDS46617.1																																																																																				RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425	
ARHGAP5	394	hgsc.bcm.edu	37	14	32561296	32561296	+	Missense_Mutation	SNP	T	T	C	rs200111638		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr14:32561296T>C	ENST00000345122.3	+	2	1736	c.1421T>C	c.(1420-1422)gTa>gCa	p.V474A	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V474A|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V474A|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V474A|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	474	FF 3.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCAAAGAGGTATATGGTAGG	0.368																																					NSCLC(9;77 350 3443 29227 41353)												0			14											74.0	77.0	76.0					14																	32561296		2203	4297	6500	31631047	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1421T>C	14.37:g.32561296T>C	ENSP00000371897:p.Val474Ala	Somatic		Capture	Illumina HiSeq	Phase_I	31631047	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311365	0.60414	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	6.02	6.02	0.97574	FF domain (1);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	L	0.40543	1.245	0.80722	D	1	P;P	0.49961	0.93;0.885	P;P	0.56042	0.79;0.622	T	0.00254	-1.1874	10	0.56958	D	0.05	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	474;474	Q13017-2;Q13017	.;RHG05_HUMAN	A	474	ENSP00000452222:V474A;ENSP00000441692:V474A;ENSP00000371897:V474A;ENSP00000393307:V474A	ENSP00000371897:V474A	V	+	2	0	ARHGAP5	31631047	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.040000	0.89188	2.299000	0.77371	0.528000	0.53228	GTA		ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
MDGA2	161357	hgsc.bcm.edu	37	14	47530616	47530616	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr14:47530616C>T	ENST00000399232.2	-	7	1518	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	MDGA2_ENST00000439988.3_Missense_Mutation_p.R454Q|MDGA2_ENST00000357362.3_Missense_Mutation_p.R156Q|MDGA2_ENST00000426342.1_Missense_Mutation_p.R156Q	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	385	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R156Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATGACCATCCGCTCAGAACT	0.418																																																	1	Substitution - Missense(1)	ovary(1)	14											158.0	142.0	147.0					14																	47530616		1897	4112	6009	46600366	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1154G>A	14.37:g.47530616C>T	ENSP00000382178:p.Arg385Gln	Somatic		Capture	Illumina HiSeq	Phase_I	46600366	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	C	33	5.282825	0.95489	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	U	0.000235	T	0.70928	0.3280	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73930	-0.3827	10	0.87932	D	0	.	18.2795	0.90094	0.0:1.0:0.0:0.0	.	385	Q7Z553	MDGA2_HUMAN	Q	385;156;454;156	ENSP00000400011:R385Q;ENSP00000405456:R156Q;ENSP00000382178:R454Q;ENSP00000349925:R156Q	ENSP00000349925:R156Q	R	-	2	0	MDGA2	46600366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.658000	0.90341	0.655000	0.94253	CGG		MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
SLC8A3	6547	hgsc.bcm.edu	37	14	70633479	70633479	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr14:70633479C>T	ENST00000381269.2	-	2	2414	c.1661G>A	c.(1660-1662)cGg>cAg	p.R554Q	SLC8A3_ENST00000534137.1_Missense_Mutation_p.R554Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R554Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R554Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R554Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	554	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.R554L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACCTGATGTCCGCAGAACCTT	0.493																																																	1	Substitution - Missense(1)	central_nervous_system(1)	14											94.0	92.0	93.0					14																	70633479		2203	4300	6503	69703232	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1661G>A	14.37:g.70633479C>T	ENSP00000370669:p.Arg554Gln	Somatic		Capture	Illumina HiSeq	Phase_I	69703232	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270682	0.80469	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.69	5.69	0.88448	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	H	0.97465	4.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.83275	0.994;0.996;0.974;0.991	D	0.86178	0.1604	10	0.87932	D	0	.	19.8067	0.96534	0.0:1.0:0.0:0.0	.	554;554;554;554	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	Q	554	ENSP00000349392:R554Q;ENSP00000370669:R554Q;ENSP00000350560:R554Q;ENSP00000436688:R554Q;ENSP00000433531:R554Q	ENSP00000349392:R554Q	R	-	2	0	SLC8A3	69703232	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.672000	0.90937	0.650000	0.86243	CGG		SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		
HSP90AA1	3320	hgsc.bcm.edu	37	14	102551684	102551684	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr14:102551684T>C	ENST00000216281.8	-	4	819	c.614A>G	c.(613-615)gAg>gGg	p.E205G	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E26G|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E327G	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	205					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CTTCACAATCTCCTTTATTCT	0.383																																																	0			14											88.0	72.0	77.0					14																	102551684		2203	4300	6503	101621437	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.614A>G	14.37:g.102551684T>C	ENSP00000216281:p.Glu205Gly	Somatic		Capture	Illumina HiSeq	Phase_I	101621437	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	t	20.2	3.947245	0.73672	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	4.29	4.29	0.51040	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	U	0.000000	T	0.22437	0.0541	M	0.89214	3.015	0.80722	D	1	B;P;P	0.48503	0.379;0.911;0.729	B;B;B	0.38056	0.247;0.264;0.117	T	0.36359	-0.9751	10	0.87932	D	0	-30.5266	13.741	0.62847	0.0:0.0:0.0:1.0	.	26;327;205	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	G	205;327;26;136	ENSP00000216281:E205G;ENSP00000335153:E327G;ENSP00000396189:E26G;ENSP00000450712:E136G	ENSP00000216281:E205G	E	-	2	0	HSP90AA1	101621437	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	6.097000	0.71452	1.723000	0.51488	0.528000	0.53228	GAG		HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348	
TDRD9	122402	hgsc.bcm.edu	37	14	104470578	104470578	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr14:104470578G>A	ENST00000409874.4	+	14	1535	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	TDRD9_ENST00000339063.5_Missense_Mutation_p.R496H	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	496	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTGAAGGCCGTGCTGGACGA	0.403																																																	0			14											114.0	88.0	97.0					14																	104470578		2203	4300	6503	103540331	SO:0001583	missense	122402			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1487G>A	14.37:g.104470578G>A	ENSP00000387303:p.Arg496His	Somatic		Capture	Illumina HiSeq	Phase_I	103540331	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	G	32	5.191206	0.94923	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	D;D	0.99143	-5.48;-5.48	5.87	5.87	0.94306	Helicase, C-terminal (3);	0.092772	0.46758	D	0.000275	D	0.99563	0.9843	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.97110	0.671;1.0	D	0.98256	1.0496	10	0.62326	D	0.03	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	496;496	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	H	496	ENSP00000387303:R496H;ENSP00000343545:R496H	ENSP00000343545:R496H	R	+	2	0	TDRD9	103540331	1.000000	0.71417	0.993000	0.49108	0.916000	0.54674	5.737000	0.68606	2.779000	0.95612	0.655000	0.94253	CGT		TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	
NLGN4Y	22829	hgsc.bcm.edu	37	Y	16734128	16734128	+	Silent	SNP	A	A	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chrY:16734128A>T	ENST00000297967.5	+	1	228	c.129A>T	c.(127-129)gcA>gcT	p.A43A	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	43					learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						ACAGCCAAGCACAGTATCCAG	0.458																																																	0			Y																																								15243522	SO:0001819	synonymous_variant	22829				CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000297967.5:c.129A>T	Y.37:g.16734128A>T		Somatic		Capture	Illumina HiSeq	Phase_I	15243522	F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Silent	SNP	ENST00000297967.5	37	CCDS55553.1	.	.	.	.	.	.	.	.	.	.	.	0.279	-0.987493	0.02180	.	.	ENSG00000165246	ENST00000413217	.	.	.	1.55	0.0438	0.14223	.	.	.	.	.	T	0.19685	0.0473	.	.	.	.	.	.	.	.	.	.	.	.	T	0.13818	-1.0495	2	.	.	.	.	.	.	.	.	.	.	.	L	23	.	.	H	+	2	0	NLGN4Y	15243522	0.992000	0.36948	0.991000	0.47740	0.546000	0.35178	0.090000	0.15025	-0.132000	0.11557	0.155000	0.16302	CAC		NLGN4Y-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014893	
DAPK3	1613	hgsc.bcm.edu	37	19	3964332	3964332	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr19:3964332G>T	ENST00000545797.2	-	4	706	c.463C>A	c.(463-465)Cca>Aca	p.P155T	DAPK3_ENST00000301264.3_Missense_Mutation_p.P155T|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGATTCGTGGGTTGGGCACG	0.617																																																	0			19											223.0	129.0	161.0					19																	3964332		2203	4300	6503	3915332	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.463C>A	19.37:g.3964332G>T	ENSP00000442973:p.Pro155Thr	Somatic		Capture	Illumina HiSeq	Phase_I	3915332	A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536271	0.65085	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	T;T	0.38887	1.11;1.11	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	N	0.13235	0.315	0.80722	D	1	B	0.30741	0.293	B	0.33890	0.172	T	0.08472	-1.0720	10	0.23302	T	0.38	.	18.3495	0.90333	0.0:0.0:1.0:0.0	.	155	O43293	DAPK3_HUMAN	T	155;155;10	ENSP00000301264:P155T;ENSP00000442973:P155T	ENSP00000301264:P155T	P	-	1	0	DAPK3	3915332	1.000000	0.71417	0.404000	0.26397	0.201000	0.24016	9.562000	0.98145	2.581000	0.87130	0.561000	0.74099	CCA		DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348	
FUT3	2525	hgsc.bcm.edu	37	19	5844673	5844673	+	Missense_Mutation	SNP	G	G	A	rs370374203		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr19:5844673G>A	ENST00000303225.6	-	3	812	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	FUT3_ENST00000589620.1_Missense_Mutation_p.R60C|FUT3_ENST00000593144.1_5'Flank|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589918.1_Missense_Mutation_p.R60C|FUT3_ENST00000458379.2_Missense_Mutation_p.R60C	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	60					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGGGTGGGGCGGGTGGGAGTG	0.632																																					Esophageal Squamous(82;745 1728 24593 44831)												0			19						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4404		0,0,2202	22.0	26.0	25.0		178,178,178,178	-0.2	0.0	19		25	1,8595		0,1,4297	no	missense,missense,missense,missense	FUT3	NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1	180,180,180,180	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	60/362,60/362,60/362,60/362	5844673	1,12999	2202	4298	6500	5795673	SO:0001583	missense	2525				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.178C>T	19.37:g.5844673G>A	ENSP00000305603:p.Arg60Cys	Somatic		Capture	Illumina HiSeq	Phase_I	5795673	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640263	0.47153	0.0	1.16E-4	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.24723	1.84;1.84	2.33	-0.17	0.13335	.	29.287000	0.00496	U	0.000142	T	0.40171	0.1106	M	0.65498	2.005	0.09310	N	1	D;D;D;D	0.67145	0.996;0.996;0.992;0.996	P;P;P;P	0.54270	0.708;0.708;0.747;0.708	T	0.16719	-1.0393	10	0.62326	D	0.03	.	4.8714	0.13635	0.3845:0.0:0.6155:0.0	.	60;60;60;60	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	C	60	ENSP00000305603:R60C;ENSP00000416443:R60C	ENSP00000305603:R60C	R	-	1	0	FUT3	5795673	0.000000	0.05858	0.002000	0.10522	0.368000	0.29767	-0.327000	0.07955	-0.144000	0.11314	0.205000	0.17691	CGC		FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149	
DMRTC2	63946	hgsc.bcm.edu	37	19	42351632	42351632	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr19:42351632C>T	ENST00000269945.3	+	2	187	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	DMRTC2_ENST00000596827.1_Missense_Mutation_p.R46C|DMRTC2_ENST00000602098.1_3'UTR|LYPD4_ENST00000601246.1_5'Flank|LYPD4_ENST00000330743.3_5'Flank	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	46					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CGCCCGCTGCCGCAACCATGG	0.617																																																	0			19											73.0	69.0	70.0					19																	42351632		2203	4300	6503	47043472	SO:0001583	missense	63946			AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.136C>T	19.37:g.42351632C>T	ENSP00000269945:p.Arg46Cys	Somatic		Capture	Illumina HiSeq	Phase_I	47043472	Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403539	0.83230	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.54	4.54	0.55810	DM DNA-binding (6);	0.131100	0.36134	N	0.002777	T	0.81245	0.4782	M	0.88377	2.95	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84774	0.0769	9	0.87932	D	0	-11.9148	13.5035	0.61471	0.0:1.0:0.0:0.0	.	46;46	B4DX56;Q8IXT2	.;DMRTD_HUMAN	C	46	.	ENSP00000269945:R46C	R	+	1	0	DMRTC2	47043472	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.628000	0.54259	2.472000	0.83506	0.561000	0.74099	CGC		DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283	
IRGC	56269	hgsc.bcm.edu	37	19	44223631	44223631	+	Silent	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr19:44223631G>A	ENST00000244314.5	+	2	1120	c.921G>A	c.(919-921)ctG>ctA	p.L307L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	307						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCTTTGGTCTGGACGACGACT	0.672																																					Colon(189;350 2037 11447 13433 38914)												0			19											60.0	59.0	59.0					19																	44223631		2203	4299	6502	48915471	SO:0001819	synonymous_variant	56269			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.921G>A	19.37:g.44223631G>A		Somatic		Capture	Illumina HiSeq	Phase_I	48915471	Q05BR8	Silent	SNP	ENST00000244314.5	37	CCDS12629.1																																																																																				IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	
SLC8A2	6543	hgsc.bcm.edu	37	19	47969266	47969266	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr19:47969266G>A	ENST00000236877.6	-	2	790	c.395C>T	c.(394-396)aCg>aTg	p.T132M	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	132					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GGCCATGAGCGTGAGGTTGGA	0.602																																																	0			19											91.0	58.0	69.0					19																	47969266		2203	4300	6503	52661078	SO:0001583	missense	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.395C>T	19.37:g.47969266G>A	ENSP00000236877:p.Thr132Met	Somatic		Capture	Illumina HiSeq	Phase_I	52661078	B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229838	0.79688	.	.	ENSG00000118160	ENST00000236877	T	0.71698	-0.59	4.25	4.25	0.50352	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94005	0.7279	10	0.87932	D	0	.	15.6004	0.76620	0.0:0.0:1.0:0.0	.	132	Q9UPR5	NAC2_HUMAN	M	132	ENSP00000236877:T132M	ENSP00000236877:T132M	T	-	2	0	SLC8A2	52661078	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.587000	0.98229	2.210000	0.71456	0.462000	0.41574	ACG		SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1		
LMTK3	114783	hgsc.bcm.edu	37	19	49001497	49001497	+	Silent	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr19:49001497C>T	ENST00000600059.1	-	11	3056	c.2829G>A	c.(2827-2829)gcG>gcA	p.A943A	LMTK3_ENST00000270238.3_Silent_p.A972A			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	943	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CATTCTCCGCCGCCTTCTCCT	0.632																																																	0			19											49.0	53.0	52.0					19																	49001497		1899	4109	6008	53693309	SO:0001819	synonymous_variant	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2829G>A	19.37:g.49001497C>T		Somatic		Capture	Illumina HiSeq	Phase_I	53693309	Q4G0U1	Silent	SNP	ENST00000600059.1	37																																																																																					LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895	
ZNF701	55762	hgsc.bcm.edu	37	19	53085918	53085918	+	Silent	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr19:53085918C>T	ENST00000540331.1	+	5	1029	c.804C>T	c.(802-804)ctC>ctT	p.L268L	ZNF701_ENST00000301093.2_Silent_p.L268L|ZNF701_ENST00000391785.3_Silent_p.L202L|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	268					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(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CTTCATTACTCACACAAAAAC	0.368																																					NSCLC(89;451 1475 9611 20673 52284)												0			19											51.0	55.0	54.0					19																	53085918		2203	4300	6503	57777730	SO:0001819	synonymous_variant	55762			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.804C>T	19.37:g.53085918C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57777730	A2RRM8|B9EGF2|F5GZM6|Q66K42	Silent	SNP	ENST00000540331.1	37	CCDS54311.1																																																																																				ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260	
RP1	6101	hgsc.bcm.edu	37	8	55538658	55538658	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr8:55538658A>G	ENST00000220676.1	+	4	2364	c.2216A>G	c.(2215-2217)gAa>gGa	p.E739G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	739					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTGTAATTGAATCAAATACT	0.333																																					Colon(91;1014 1389 7634 14542 40420)												0			8											33.0	33.0	33.0					8																	55538658		2203	4297	6500	55701211	SO:0001583	missense	10982			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2216A>G	8.37:g.55538658A>G	ENSP00000220676:p.Glu739Gly	Somatic		Capture	Illumina HiSeq	Phase_I	55701211		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	6.386	0.439245	0.12104	.	.	ENSG00000104237	ENST00000220676	T	0.23552	1.9	5.93	4.77	0.60923	.	0.865829	0.10058	N	0.721260	T	0.21718	0.0523	L	0.34521	1.04	0.09310	N	1	P	0.50272	0.933	B	0.40901	0.343	T	0.07328	-1.0778	10	0.34782	T	0.22	.	12.2009	0.54323	0.9326:0.0:0.0673:0.0	.	739	P56715	RP1_HUMAN	G	739	ENSP00000220676:E739G	ENSP00000220676:E739G	E	+	2	0	RP1	55701211	0.793000	0.28825	0.979000	0.43373	0.011000	0.07611	3.076000	0.50081	2.270000	0.75569	0.482000	0.46254	GAA		RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
PREX2	80243	hgsc.bcm.edu	37	8	69046378	69046378	+	Missense_Mutation	SNP	C	C	T	rs375506738		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr8:69046378C>T	ENST00000288368.4	+	32	4128	c.3851C>T	c.(3850-3852)gCg>gTg	p.A1284V		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1284					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCTCATGGCGGCCTTGAAC	0.502																																																	0			8						C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	86.0	81.0	83.0		3851	5.4	1.0	8		83	0,8600		0,0,4300	no	missense	PREX2	NM_024870.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1284/1607	69046378	1,13005	2203	4300	6503	69208932	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3851C>T	8.37:g.69046378C>T	ENSP00000288368:p.Ala1284Val	Somatic		Capture	Illumina HiSeq	Phase_I	69208932	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197211	0.58126	2.27E-4	0.0	ENSG00000046889	ENST00000288368	T	0.57907	0.37	5.42	5.42	0.78866	.	0.202234	0.41712	D	0.000831	T	0.47266	0.1436	L	0.45581	1.43	0.50632	D	0.999886	B	0.15473	0.013	B	0.18561	0.022	T	0.42949	-0.9421	10	0.54805	T	0.06	.	12.9783	0.58549	0.0:0.916:0.0:0.084	.	1284	Q70Z35	PREX2_HUMAN	V	1284	ENSP00000288368:A1284V	ENSP00000288368:A1284V	A	+	2	0	PREX2	69208932	1.000000	0.71417	0.957000	0.39632	0.950000	0.60333	4.686000	0.61700	2.559000	0.86315	0.655000	0.94253	GCG		PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
ZNF704	619279	hgsc.bcm.edu	37	8	81571875	81571875	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr8:81571875C>G	ENST00000327835.3	-	7	1208	c.977G>C	c.(976-978)gGc>gCc	p.G326A		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	326							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GAAGCTGCTGCCATTGGGGGT	0.468																																																	0			8											168.0	180.0	176.0					8																	81571875		2203	4300	6503	81734430	SO:0001583	missense	619279			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.977G>C	8.37:g.81571875C>G	ENSP00000331462:p.Gly326Ala	Somatic		Capture	Illumina HiSeq	Phase_I	81734430	B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.588200	0.46110	.	.	ENSG00000164684	ENST00000327835	D	0.82619	-1.63	5.62	5.62	0.85841	.	0.094153	0.64402	D	0.000001	T	0.80019	0.4547	L	0.38838	1.175	0.52501	D	0.999956	B	0.32101	0.356	B	0.35182	0.197	T	0.77070	-0.2724	10	0.41790	T	0.15	-28.6935	20.0114	0.97452	0.0:1.0:0.0:0.0	.	326	Q6ZNC4	ZN704_HUMAN	A	326	ENSP00000331462:G326A	ENSP00000331462:G326A	G	-	2	0	ZNF704	81734430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.823000	0.48081	2.795000	0.96236	0.655000	0.94253	GGC		ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723	
TRAPPC9	83696	hgsc.bcm.edu	37	8	141034145	141034145	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr8:141034145G>C	ENST00000438773.2	-	18	2721	c.2588C>G	c.(2587-2589)tCt>tGt	p.S863C	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.S961C|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S854C	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	863					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CGGGCCTCCAGAGTATTTGAA	0.458																																																	0			8											60.0	64.0	62.0					8																	141034145		2203	4300	6503	141103327	SO:0001583	missense	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2588C>G	8.37:g.141034145G>C	ENSP00000405060:p.Ser863Cys	Somatic		Capture	Illumina HiSeq	Phase_I	141103327	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915460	0.73098	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	M	0.69358	2.11	0.48288	D	0.999627	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.997	T	0.77310	-0.2635	9	0.44086	T	0.13	.	17.6378	0.88128	0.0:0.0:1.0:0.0	.	961;863;854;961	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	C	961;854;863	.	ENSP00000373978:S854C	S	-	2	0	TRAPPC9	141103327	1.000000	0.71417	0.982000	0.44146	0.982000	0.71751	6.856000	0.75450	2.498000	0.84270	0.467000	0.42956	TCT		TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	
DHDDS	79947	hgsc.bcm.edu	37	1	26774084	26774084	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:26774084C>A	ENST00000236342.7	+	6	568	c.475C>A	c.(475-477)Cgt>Agt	p.R159S	DHDDS_ENST00000427245.2_Missense_Mutation_p.R159S|DHDDS_ENST00000374185.3_Missense_Mutation_p.R159S|DHDDS_ENST00000526219.1_Missense_Mutation_p.R120S|DHDDS_ENST00000360009.2_Missense_Mutation_p.R159S|DHDDS_ENST00000525682.2_Intron			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	159					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		ATACACATCCCGTCATGAGAT	0.473																																																	0			1											153.0	138.0	143.0					1																	26774084		2203	4300	6503	26646671	SO:0001583	missense	79947			AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.475C>A	1.37:g.26774084C>A	ENSP00000236342:p.Arg159Ser	Somatic		Capture	Illumina HiSeq	Phase_I	26646671	B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	CCDS282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.506800|4.506800	0.85282|0.85282	.|.	.|.	ENSG00000117682|ENSG00000117682	ENST00000416052|ENST00000374190;ENST00000374192;ENST00000427245;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000436153;ENST00000430232	.|T;T;T;T;T;T;T	.|0.80909	.|-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.93|5.93	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91385|0.91385	0.7282|0.7282	M|M	0.93106|0.93106	3.38|3.38	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.973;0.966	.|D;D;P	.|0.91635	.|0.999;0.942;0.904	D|D	0.92603|0.92603	0.6093|0.6093	5|10	.|0.87932	.|D	.|0	-16.3942|-16.3942	13.3793|13.3793	0.60759|0.60759	0.321:0.679:0.0:0.0|0.321:0.679:0.0:0.0	.|.	.|120;159;159	.|Q86SQ9-3;Q86SQ9;Q86SQ9-2	.|.;DHDDS_HUMAN;.	Q|S	35|127;55;159;159;120;159;159;159;159;120	.|ENSP00000399177:R159S;ENSP00000236342:R159S;ENSP00000434219:R120S;ENSP00000363300:R159S;ENSP00000353104:R159S;ENSP00000436119:R159S;ENSP00000397584:R120S	.|ENSP00000236342:R159S	P|R	+|+	2|1	0|0	DHDDS|DHDDS	26646671|26646671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	4.375000|4.375000	0.59549|0.59549	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CCG|CGT		DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887	
COL16A1	1307	hgsc.bcm.edu	37	1	32119210	32119210	+	Silent	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:32119210G>A	ENST00000373672.3	-	70	5118	c.4602C>T	c.(4600-4602)ccC>ccT	p.P1534P	RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|COL16A1_ENST00000461217.1_5'UTR|COL16A1_ENST00000271069.6_Silent_p.P1534P|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1534	Collagen-like 8.|Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGGGGGCCGGGAAGACCAT	0.453																																					Colon(143;498 1786 21362 25193 36625)												0			1											60.0	61.0	61.0					1																	32119210		1886	4108	5994	31891797	SO:0001819	synonymous_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.4602C>T	1.37:g.32119210G>A		Somatic		Capture	Illumina HiSeq	Phase_I	31891797	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	CCDS41297.1																																																																																				COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
LHX8	431707	hgsc.bcm.edu	37	1	75602913	75602913	+	Silent	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:75602913C>T	ENST00000294638.5	+	4	898	c.234C>T	c.(232-234)tgC>tgT	p.C78C	LHX8_ENST00000356261.3_Silent_p.C68C|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	78	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GCAACAGTTGCGGCCTGGAGA	0.657																																																	0			1											34.0	35.0	35.0					1																	75602913		2203	4300	6503	75375501	SO:0001819	synonymous_variant	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.234C>T	1.37:g.75602913C>T		Somatic		Capture	Illumina HiSeq	Phase_I	75375501	E9PGE3	Silent	SNP	ENST00000294638.5	37	CCDS30756.1																																																																																				LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933	
ST6GALNAC5	81849	hgsc.bcm.edu	37	1	77510110	77510110	+	Silent	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:77510110C>T	ENST00000477717.1	+	3	718	c.483C>T	c.(481-483)aaC>aaT	p.N161N		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	161					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						ACCTGCTCAACGTGAGCCAGG	0.637																																																	0			1											70.0	61.0	64.0					1																	77510110		2203	4300	6503	77282698	SO:0001819	synonymous_variant	81849				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.483C>T	1.37:g.77510110C>T		Somatic		Capture	Illumina HiSeq	Phase_I	77282698	B1AK82	Silent	SNP	ENST00000477717.1	37	CCDS673.1																																																																																				ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965	
SASS6	163786	hgsc.bcm.edu	37	1	100573009	100573009	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:100573009G>C	ENST00000287482.5	-	11	1387	c.1247C>G	c.(1246-1248)gCt>gGt	p.A416G	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.A249G	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	416					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CTCCTTCTCAGCCAAGAGTTT	0.313																																																	0			1											75.0	73.0	74.0					1																	100573009		2201	4292	6493	100345597	SO:0001583	missense	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1247C>G	1.37:g.100573009G>C	ENSP00000287482:p.Ala416Gly	Somatic		Capture	Illumina HiSeq	Phase_I	100345597	D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274833	0.23307	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.29655	1.56;1.56	5.49	5.49	0.81192	.	0.241662	0.43919	D	0.000501	T	0.11836	0.0288	L	0.28740	0.885	0.35069	D	0.762337	B	0.26041	0.14	B	0.25614	0.062	T	0.08106	-1.0738	10	0.21540	T	0.41	-15.521	14.9117	0.70761	0.0:0.1429:0.8571:0.0	.	416	Q6UVJ0	SAS6_HUMAN	G	416;389;249	ENSP00000287482:A416G;ENSP00000440169:A249G	ENSP00000287482:A416G	A	-	2	0	SASS6	100345597	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.281000	0.72632	2.573000	0.86826	0.585000	0.79938	GCT		SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292	
HRNR	388697	hgsc.bcm.edu	37	1	152191578	152191578	+	Nonsense_Mutation	SNP	G	G	A	rs141263661	byFrequency	TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:152191578G>A	ENST00000368801.2	-	3	2602	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	843					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCATGTCGTCCCTGGCTA	0.552													G|||	5	0.000998403	0.0008	0.0	5008	,	,		21457	0.004		0.0	False		,,,				2504	0.0																0			1						G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	137.0	136.0	137.0		2527	-3.4	0.0	1	dbSNP_134	137	0,8600		0,0,4300	yes	stop-gained	HRNR	NM_001009931.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		843/2851	152191578	1,13005	2203	4300	6503	150458202	SO:0001587	stop_gained	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2527C>T	1.37:g.152191578G>A	ENSP00000357791:p.Arg843*	Somatic		Capture	Illumina HiSeq	Phase_I	150458202	Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.384617	0.95967	2.27E-4	0.0	ENSG00000197915	ENST00000368801	.	.	.	3.33	-3.39	0.04868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	1.9825	0.03429	0.1146:0.1579:0.2486:0.479	.	.	.	.	X	843	.	ENSP00000357791:R843X	R	-	1	2	HRNR	150458202	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.228000	0.09114	-0.210000	0.10140	0.456000	0.33151	CGA		HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
SPTA1	6708	hgsc.bcm.edu	37	1	158651358	158651358	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:158651358C>T	ENST00000368147.4	-	4	670	c.490G>A	c.(490-492)Gta>Ata	p.V164I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	164					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.V164L(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)					CACTCCTGTACATACTGCTGG	0.552																																																	1	Substitution - Missense(1)	ovary(1)	1											228.0	230.0	230.0					1																	158651358		2035	4195	6230	156917982	SO:0001583	missense	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.490G>A	1.37:g.158651358C>T	ENSP00000357129:p.Val164Ile	Somatic		Capture	Illumina HiSeq	Phase_I	156917982	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	4.094	0.015492	0.07959	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50277	0.75;0.75	5.15	-1.04	0.10068	.	.	.	.	.	T	0.06690	0.0171	N	0.11131	0.1	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.31806	-0.9930	9	0.22109	T	0.4	.	0.3116	0.00288	0.3859:0.1378:0.2203:0.256	.	164	P02549	SPTA1_HUMAN	I	164	ENSP00000357130:V164I;ENSP00000357129:V164I	ENSP00000357129:V164I	V	-	1	0	SPTA1	156917982	1.000000	0.71417	0.005000	0.12908	0.017000	0.09413	2.307000	0.43682	-0.358000	0.08162	-2.746000	0.00125	GTA		SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
DNM3	26052	hgsc.bcm.edu	37	1	172013550	172013550	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:172013550G>T	ENST00000355305.5	+	9	1311	c.1154G>T	c.(1153-1155)cGa>cTa	p.R385L	DNM3_ENST00000367731.1_Missense_Mutation_p.R385L|DNM3_ENST00000358155.4_Missense_Mutation_p.R385L|DNM3_ENST00000367733.2_Missense_Mutation_p.R385L|DNM3_ENST00000520906.1_Missense_Mutation_p.R385L			Q9UQ16	DYN3_HUMAN	dynamin 3	385					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAAGAATTGCGAAGAGAAATA	0.323																																																	0			1											57.0	54.0	55.0					1																	172013550		1846	4088	5934	170280173	SO:0001583	missense	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1154G>T	1.37:g.172013550G>T	ENSP00000347457:p.Arg385Leu	Somatic		Capture	Illumina HiSeq	Phase_I	170280173	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	G	27.0	4.790746	0.90367	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.24	5.24	0.73138	.	0.062171	0.64402	D	0.000004	D	0.83031	0.5166	M	0.72576	2.205	0.80722	D	1	D;P;P;D	0.89917	1.0;0.883;0.941;0.984	D;B;P;P	0.85130	0.997;0.3;0.815;0.846	T	0.82506	-0.0423	10	0.46703	T	0.11	.	17.7539	0.88444	0.0:0.0:1.0:0.0	.	385;385;385;385	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	L	385;385;385;385;385;385;275	ENSP00000350876:R385L;ENSP00000356707:R385L;ENSP00000347457:R385L;ENSP00000356705:R385L;ENSP00000429701:R385L;ENSP00000429416:R275L	ENSP00000347457:R385L	R	+	2	0	DNM3	170280173	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.809000	0.99208	2.609000	0.88269	0.655000	0.94253	CGA		DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
ASTN1	460	hgsc.bcm.edu	37	1	176845742	176845742	+	Missense_Mutation	SNP	G	G	A	rs373152514		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:176845742G>A	ENST00000367654.3	-	21	3629	c.3418C>T	c.(3418-3420)Cgg>Tgg	p.R1140W	ASTN1_ENST00000424564.2_Missense_Mutation_p.R1132W|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1132W|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1132W	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1140	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R1132W(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGGAGCGCCGTCCTGTGTTG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18580	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	prostate(1)	1						G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	88.0	97.0		3394,3394	4.2	1.0	1		97	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASTN1	NM_004319.1,NM_207108.1	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	1132/1295,1132/1217	176845742	2,13004	2203	4300	6503	175112365	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3418C>T	1.37:g.176845742G>A	ENSP00000356626:p.Arg1140Trp	Somatic		Capture	Illumina HiSeq	Phase_I	175112365	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	G	23.6	4.441505	0.83993	2.27E-4	1.16E-4	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.17213	2.29;2.71;2.71;2.29	5.19	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.04017	-1.0984	10	0.87932	D	0	-17.3769	11.0346	0.47793	0.0:0.0:0.6384:0.3616	.	1132;1132	O14525-2;B1AJS1	.;.	W	1132;1132;1140;1132;1132	ENSP00000356629:R1132W;ENSP00000354536:R1132W;ENSP00000356626:R1140W;ENSP00000395041:R1132W	ENSP00000354536:R1132W	R	-	1	2	ASTN1	175112365	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	5.493000	0.66899	2.400000	0.81607	0.655000	0.94253	CGG		ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
ABL2	27	hgsc.bcm.edu	37	1	179084019	179084019	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:179084019T>C	ENST00000502732.1	-	9	1758	c.1555A>G	c.(1555-1557)Aga>Gga	p.R519G	ABL2_ENST00000512653.1_Missense_Mutation_p.R504G|ABL2_ENST00000367623.4_Missense_Mutation_p.R498G|ABL2_ENST00000504405.1_Missense_Mutation_p.R483G|ABL2_ENST00000507173.1_Missense_Mutation_p.R498G|ABL2_ENST00000511413.1_Missense_Mutation_p.R519G|ABL2_ENST00000392043.3_Missense_Mutation_p.R498G|ABL2_ENST00000408940.3_Missense_Mutation_p.R483G|ABL2_ENST00000344730.3_Missense_Mutation_p.R504G	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> I (somatic mutation in a lung squamous cell carcinoma). {ECO:0000269|PubMed:17344846}.		actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCACATGCTCTCATAAGTTCA	0.378			T	ETV6	AML																																			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0			1											95.0	98.0	97.0					1																	179084019		2203	4300	6503	177350642	SO:0001583	missense	27			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1555A>G	1.37:g.179084019T>C	ENSP00000427562:p.Arg519Gly	Somatic		Capture	Illumina HiSeq	Phase_I	177350642	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.879119	0.72294	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.99	5.99	0.97316	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	D	0.87869	0.6286	L	0.61218	1.895	0.80722	D	1	D;D;D;P;P;D;P;P;P	0.65815	0.995;0.968;0.968;0.946;0.599;0.978;0.887;0.94;0.896	P;P;P;P;B;P;B;P;P	0.57371	0.819;0.621;0.621;0.621;0.21;0.711;0.397;0.584;0.468	D	0.88192	0.2878	10	0.52906	T	0.07	.	15.6531	0.77112	0.0:0.0:0.0:1.0	.	498;498;519;483;498;519;504;483;504	P42684-6;P42684-7;P42684-5;P42684-4;P42684-8;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;ABL2_HUMAN;.;.;.	G	519;483;504;504;483;498;498;519;498	ENSP00000427562:R519G;ENSP00000386152:R483G;ENSP00000339209:R504G;ENSP00000423578:R504G;ENSP00000426831:R483G;ENSP00000356595:R498G;ENSP00000423413:R498G;ENSP00000424697:R519G;ENSP00000375897:R498G	ENSP00000339209:R504G	R	-	1	2	ABL2	177350642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.001000	0.63946	2.292000	0.77174	0.482000	0.46254	AGA		ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
CACNA1E	777	hgsc.bcm.edu	37	1	181726197	181726197	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:181726197A>C	ENST00000367573.2	+	30	4264	c.4264A>C	c.(4264-4266)Atc>Ctc	p.I1422L	CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1373L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1354L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.I1403L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1029L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1422L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1403L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1422					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTGGCTCTCATCATCATCAC	0.483																																																	0			1											150.0	147.0	148.0					1																	181726197		1943	4164	6107	179992820	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4264A>C	1.37:g.181726197A>C	ENSP00000356545:p.Ile1422Leu	Somatic		Capture	Illumina HiSeq	Phase_I	179992820	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.644393	0.87859	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41;-5.41;-5.41;-5.41	5.75	4.6	0.57074	Ion transport (1);	0.048732	0.85682	N	0.000000	D	0.98782	0.9590	M	0.68593	2.085	0.80722	D	1	B;P;B	0.40638	0.282;0.725;0.009	P;P;B	0.54706	0.679;0.759;0.013	D	0.98364	1.0550	10	0.52906	T	0.07	.	12.5852	0.56414	0.8611:0.1389:0.0:0.0	.	1403;1422;1422	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1422;1403;1373;1354;1029;1403;1422	ENSP00000356542:I1422L;ENSP00000434814:I1403L;ENSP00000350183:I1373L;ENSP00000351101:I1354L;ENSP00000356539:I1029L;ENSP00000353222:I1403L;ENSP00000356545:I1422L	ENSP00000350183:I1373L	I	+	1	0	CACNA1E	179992820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.210000	0.95106	0.972000	0.38314	0.533000	0.62120	ATC		CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
RPS6KC1	26750	hgsc.bcm.edu	37	1	213403864	213403864	+	Missense_Mutation	SNP	A	A	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:213403864A>T	ENST00000366960.3	+	9	1219	c.1069A>T	c.(1069-1071)Aca>Tca	p.T357S	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.T60S|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.T345S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.T145S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	357	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GGACACAAGGACAGAACAGAC	0.343																																																	0			1											64.0	67.0	66.0					1																	213403864		2202	4300	6502	211470487	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1069A>T	1.37:g.213403864A>T	ENSP00000355927:p.Thr357Ser	Somatic		Capture	Illumina HiSeq	Phase_I	211470487	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304406	0.81136	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.45	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.73753	2.245	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.971;0.971	T	0.46596	-0.9180	10	0.46703	T	0.11	-13.3486	11.9727	0.53071	0.8699:0.0:0.0:0.1301	.	145;357;345	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	145;357;345;60	ENSP00000442306:T145S;ENSP00000355927:T357S;ENSP00000355926:T345S;ENSP00000439282:T60S	ENSP00000355926:T345S	T	+	1	0	RPS6KC1	211470487	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.960000	0.87893	0.982000	0.38575	0.533000	0.62120	ACA		RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424	
NVL	4931	hgsc.bcm.edu	37	1	224499554	224499554	+	Missense_Mutation	SNP	G	G	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr1:224499554G>C	ENST00000281701.6	-	5	549	c.290C>G	c.(289-291)aCt>aGt	p.T97S	NVL_ENST00000468673.1_5'Flank|NVL_ENST00000391875.2_5'UTR|NVL_ENST00000361463.3_5'UTR|NVL_ENST00000482491.1_Intron|NVL_ENST00000340871.4_Intron|NVL_ENST00000469075.1_Missense_Mutation_p.T97S	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	97						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATAGCTTTCAGTATACCTCAG	0.338																																																	0			1											147.0	146.0	146.0					1																	224499554		2203	4300	6503	222566177	SO:0001583	missense	4931			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.290C>G	1.37:g.224499554G>C	ENSP00000281701:p.Thr97Ser	Somatic		Capture	Illumina HiSeq	Phase_I	222566177	B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.819|1.819	-0.472673|-0.472673	0.04445|0.04445	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000281701;ENST00000469075;ENST00000488718;ENST00000461546|ENST00000469968	D;D;T|.	0.94417|.	-3.42;-3.38;1.6|.	5.67|5.67	3.57|3.57	0.40892|0.40892	.|.	0.306651|.	0.33792|.	N|.	0.004559|.	T|.	0.30262|.	0.0759|.	N|N	0.24115|0.24115	0.695|0.695	0.41498|0.41498	D|D	0.988268|0.988268	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.18335|.	-1.0340|.	10|.	0.08599|0.02654	T|T	0.76|1	-10.6586|-10.6586	4.0892|4.0892	0.09962|0.09962	0.1317:0.0:0.6348:0.2335|0.1317:0.0:0.6348:0.2335	.|.	97;97|.	B4DP98;O15381|.	.;NVL_HUMAN|.	S|X	97;97;97;131|70	ENSP00000281701:T97S;ENSP00000417826:T97S;ENSP00000418085:T131S|.	ENSP00000281701:T97S|ENSP00000419420:Y70X	T|Y	-|-	2|3	0|2	NVL|NVL	222566177|222566177	0.922000|0.922000	0.31269|0.31269	0.905000|0.905000	0.35620|0.35620	0.342000|0.342000	0.28953|0.28953	0.500000|0.500000	0.22562|0.22562	1.398000|1.398000	0.46701|0.46701	0.655000|0.655000	0.94253|0.94253	ACT|TAC		NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533	
IGSF22	283284	hgsc.bcm.edu	37	11	18735960	18735960	+	Silent	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr11:18735960C>T	ENST00000513874.1	-	13	1801	c.1662G>A	c.(1660-1662)acG>acA	p.T554T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	554										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTGGCAAGTCCGTGATCTGGG	0.597																																																	0			11											103.0	110.0	108.0					11																	18735960		2081	4206	6287	18692536	SO:0001819	synonymous_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1662G>A	11.37:g.18735960C>T		Somatic		Capture	Illumina HiSeq	Phase_I	18692536	A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	CCDS41625.2																																																																																				IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	
FSHB	2488	hgsc.bcm.edu	37	11	30255300	30255300	+	Nonsense_Mutation	SNP	C	C	T	rs374623109		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr11:30255300C>T	ENST00000417547.1	+	3	382	c.343C>T	c.(343-345)Cga>Tga	p.R115*	FSHB_ENST00000533718.1_Nonsense_Mutation_p.R115*|FSHB_ENST00000254122.3_Nonsense_Mutation_p.R115*	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	115					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.R115*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						TTGTACTGTGCGAGGCCTGGG	0.517																																																	1	Substitution - Nonsense(1)	large_intestine(1)	11						C	stop/ARG,stop/ARG	0,4404		0,0,2202	80.0	68.0	72.0		343,343	2.7	0.2	11		72	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained	FSHB	NM_000510.2,NM_001018080.1	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	115/130,115/130	30255300	1,13001	2202	4299	6501	30211876	SO:0001587	stop_gained	2488				CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"""Endogenous ligands"""	3964	protein-coding gene	gene with protein product	"""follitropin, beta chain"", ""follicle-stimulating hormone beta subunit"""	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.343C>T	11.37:g.30255300C>T	ENSP00000416606:p.Arg115*	Somatic		Capture	Illumina HiSeq	Phase_I	30211876	A2TF08|A5JVV3|Q14D61	Nonsense_Mutation	SNP	ENST00000417547.1	37	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947427	0.53186	0.0	1.16E-4	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	.	.	.	5.65	2.67	0.31697	.	0.426305	0.22879	N	0.054524	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	15.0102	0.71545	0.693:0.307:0.0:0.0	.	.	.	.	X	115	.	ENSP00000254122:R115X	R	+	1	2	FSHB	30211876	0.012000	0.17670	0.220000	0.23810	0.393000	0.30537	-0.524000	0.06222	0.425000	0.26087	-0.182000	0.12963	CGA		FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510	
KCTD21	283219	hgsc.bcm.edu	37	11	77884837	77884837	+	Missense_Mutation	SNP	C	C	T	rs372134817		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr11:77884837C>T	ENST00000340067.3	-	2	1042	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	255					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			CCGTATTAATCGAATAATCTT	0.488																																																	0			11						C	GLN/ARG	0,4400		0,0,2200	107.0	111.0	110.0		764	5.5	1.0	11		110	1,8583		0,1,4291	no	missense	KCTD21	NM_001029859.1	43	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	255/261	77884837	1,12983	2200	4292	6492	77562485	SO:0001583	missense	283219			AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.764G>A	11.37:g.77884837C>T	ENSP00000339340:p.Arg255Gln	Somatic		Capture	Illumina HiSeq	Phase_I	77562485	B4DTR0	Missense_Mutation	SNP	ENST00000340067.3	37	CCDS31645.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905838	0.92107	0.0	1.16E-4	ENSG00000188997	ENST00000340067	T	0.69306	-0.39	5.5	5.5	0.81552	.	0.000000	0.47852	D	0.000203	T	0.72676	0.3490	N	0.24115	0.695	0.42002	D	0.990899	D	0.89917	1.0	D	0.80764	0.994	T	0.75531	-0.3285	10	0.66056	D	0.02	.	17.7606	0.88463	0.0:1.0:0.0:0.0	.	255	Q4G0X4	KCD21_HUMAN	Q	255	ENSP00000339340:R255Q	ENSP00000339340:R255Q	R	-	2	0	KCTD21	77562485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.890000	0.56220	2.861000	0.98227	0.655000	0.94253	CGA		KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859	
MTNR1B	4544	hgsc.bcm.edu	37	11	92715176	92715176	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr11:92715176T>A	ENST00000257068.2	+	2	793	c.787T>A	c.(787-789)Tgc>Agc	p.C263S		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	263					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CTTTGCCATCTGCTGGGCTCC	0.557																																																	0			11											165.0	139.0	148.0					11																	92715176		2201	4298	6499	92354824	SO:0001583	missense	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.787T>A	11.37:g.92715176T>A	ENSP00000257068:p.Cys263Ser	Somatic		Capture	Illumina HiSeq	Phase_I	92354824		Missense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701564	0.68501	.	.	ENSG00000134640	ENST00000257068	T	0.51817	0.69	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.63479	-0.6628	10	0.34782	T	0.22	-28.7179	13.3859	0.60795	0.0:0.0:0.0:1.0	.	263	P49286	MTR1B_HUMAN	S	263	ENSP00000257068:C263S	ENSP00000257068:C263S	C	+	1	0	MTNR1B	92354824	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.220000	0.78008	1.807000	0.52817	0.402000	0.26972	TGC		MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		
NCAM1	4684	hgsc.bcm.edu	37	11	113105851	113105851	+	Missense_Mutation	SNP	T	T	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr11:113105851T>A	ENST00000533760.1	+	13	2005	c.1406T>A	c.(1405-1407)aTc>aAc	p.I469N	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.I587N|NCAM1_ENST00000401611.2_Missense_Mutation_p.I596N	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	597	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTGGGTGAGATCAGCGCGGCC	0.627																																																	0			11											29.0	33.0	32.0					11																	113105851		2026	4158	6184	112611061	SO:0001583	missense	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1406T>A	11.37:g.113105851T>A	ENSP00000473281:p.Ile469Asn	Somatic		Capture	Illumina HiSeq	Phase_I	112611061	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37		.	.	.	.	.	.	.	.	.	.	T	17.96	3.515188	0.64634	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851;ENST00000433634	T;T	0.54071	1.07;0.59	5.84	5.84	0.93424	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.055536	0.64402	U	0.000002	T	0.42698	0.1214	.	.	.	0.45490	D	0.998453	P;P;P;P	0.40360	0.666;0.666;0.714;0.521	B;B;B;B	0.33521	0.13;0.067;0.11;0.165	T	0.39522	-0.9610	9	0.39692	T	0.17	-47.4708	14.7798	0.69756	0.0:0.0:0.0:1.0	.	597;587;597;587	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	N	469;596;587;31	ENSP00000384055:I596N;ENSP00000318472:I587N	ENSP00000318472:I587N	I	+	2	0	NCAM1	112611061	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.694000	0.54742	2.233000	0.73108	0.482000	0.46254	ATC		NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
OPCML	4978	hgsc.bcm.edu	37	11	132527046	132527046	+	Silent	SNP	C	C	T	rs369569350		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr11:132527046C>T	ENST00000331898.7	-	2	914	c.336G>A	c.(334-336)ccG>ccA	p.P112P	OPCML_ENST00000524381.1_Silent_p.P105P|OPCML_ENST00000374778.4_Silent_p.P71P|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.P112P	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	112	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGCAGGTGTACGGACCTTCGT	0.502																																																	0			11						C	,	0,4402		0,0,2201	252.0	197.0	216.0		315,336	-11.7	0.0	11		216	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	OPCML	NM_001012393.1,NM_002545.3	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	105/339,112/346	132527046	1,12995	2201	4297	6498	132032256	SO:0001819	synonymous_variant	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.336G>A	11.37:g.132527046C>T		Somatic		Capture	Illumina HiSeq	Phase_I	132032256	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	CCDS8492.1																																																																																				OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
SPATA19	219938	hgsc.bcm.edu	37	11	133714516	133714516	+	Missense_Mutation	SNP	C	C	T	rs371989839		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr11:133714516C>T	ENST00000299140.3	-	3	209	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	SPATA19_ENST00000532889.1_Missense_Mutation_p.R52Q	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	52					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CTTTATGCCCCGAGAAGCCTC	0.507																																																	0			11						C	GLN/ARG	0,4402		0,0,2201	104.0	105.0	105.0		155	0.2	0.9	11		105	1,8593	1.2+/-3.3	0,1,4296	no	missense	SPATA19	NM_174927.1	43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	52/168	133714516	1,12995	2201	4297	6498	133219726	SO:0001583	missense	219938			AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.155G>A	11.37:g.133714516C>T	ENSP00000299140:p.Arg52Gln	Somatic		Capture	Illumina HiSeq	Phase_I	133219726	Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	C	3.802	-0.041422	0.07452	0.0	1.16E-4	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.47869	0.83;0.83	5.35	0.216	0.15258	.	0.364091	0.23591	N	0.046546	T	0.16514	0.0397	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.10902	T	0.67	0.4011	3.9247	0.09259	0.1476:0.2588:0.0:0.5937	.	52	Q7Z5L4	SPT19_HUMAN	Q	52	ENSP00000299140:R52Q;ENSP00000435248:R52Q	ENSP00000299140:R52Q	R	-	2	0	SPATA19	133219726	0.006000	0.16342	0.906000	0.35671	0.578000	0.36192	0.162000	0.16501	0.024000	0.15214	-1.286000	0.01371	CGG		SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927	
GMNN	51053	hgsc.bcm.edu	37	6	24784336	24784336	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr6:24784336G>T	ENST00000230056.3	+	5	628	c.296G>T	c.(295-297)tGg>tTg	p.W99L	GMNN_ENST00000356509.3_Missense_Mutation_p.W99L	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	99	Necessary and sufficient for interaction with IDAS and CDT1.				mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						TCTCAGTATTGGAAGGAAGTG	0.284																																																	0			6											44.0	45.0	45.0					6																	24784336		2203	4300	6503	24892315	SO:0001583	missense	51053			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.296G>T	6.37:g.24784336G>T	ENSP00000230056:p.Trp99Leu	Somatic		Capture	Illumina HiSeq	Phase_I	24892315	B3KMM8|Q9H1Z1	Missense_Mutation	SNP	ENST00000230056.3	37	CCDS4560.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943275	0.92593	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000378059	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65438	-0.6168	10	0.72032	D	0.01	-14.9459	20.3472	0.98799	0.0:0.0:1.0:0.0	.	99	O75496	GEMI_HUMAN	L	99	ENSP00000348902:W99L;ENSP00000230056:W99L;ENSP00000367293:W99L;ENSP00000367298:W99L	ENSP00000230056:W99L	W	+	2	0	GMNN	24892315	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.238000	0.89809	2.890000	0.99128	0.650000	0.86243	TGG		GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895	
DAAM2	23500	hgsc.bcm.edu	37	6	39847134	39847134	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr6:39847134G>A	ENST00000398904.2	+	14	1908	c.1726G>A	c.(1726-1728)Ggc>Agc	p.G576S	DAAM2_ENST00000274867.4_Missense_Mutation_p.G576S|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.G576S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	576	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACCTTGCCTCGGCATGGGCCT	0.672																																																	0			6											35.0	36.0	36.0					6																	39847134		1887	4102	5989	39955112	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1726G>A	6.37:g.39847134G>A	ENSP00000381876:p.Gly576Ser	Somatic		Capture	Illumina HiSeq	Phase_I	39955112	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.271339	0.01421	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.82433	-1.61;-1.61;-1.61	4.63	-2.76	0.05896	Actin-binding FH2 (1);	0.955053	0.08667	N	0.911567	T	0.40767	0.1130	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.25916	-1.0118	10	0.27785	T	0.31	.	7.0044	0.24828	0.4344:0.1261:0.4395:0.0	.	576;576	G5EA45;Q86T65	.;DAAM2_HUMAN	S	576	ENSP00000274867:G576S;ENSP00000381876:G576S;ENSP00000437808:G576S	ENSP00000274867:G576S	G	+	1	0	DAAM2	39955112	0.649000	0.27322	0.001000	0.08648	0.001000	0.01503	0.963000	0.29293	-0.458000	0.07023	-0.172000	0.13284	GGC		DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		
TRERF1	55809	hgsc.bcm.edu	37	6	42231140	42231140	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr6:42231140C>A	ENST00000372922.4	-	8	2364	c.1802G>T	c.(1801-1803)gGg>gTg	p.G601V	TRERF1_ENST00000541110.1_Missense_Mutation_p.G601V|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	601	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTGGTGAACCCCTGAGAGCT	0.642																																																	0			6											73.0	75.0	74.0					6																	42231140		2203	4300	6503	42339118	SO:0001583	missense	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1802G>T	6.37:g.42231140C>A	ENSP00000362013:p.Gly601Val	Somatic		Capture	Illumina HiSeq	Phase_I	42339118	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284735	0.40394	.	.	ENSG00000124496	ENST00000541110;ENST00000372922	T;T	0.10192	2.95;2.9	4.45	3.5	0.40072	.	0.385573	0.22047	N	0.065370	T	0.01558	0.0050	N	0.04508	-0.205	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.43766	-0.9371	10	0.21014	T	0.42	-15.6445	6.8425	0.23971	0.1768:0.577:0.2462:0.0	.	601;601	Q05GC8;Q96PN7	.;TREF1_HUMAN	V	601	ENSP00000439689:G601V;ENSP00000362013:G601V	ENSP00000362013:G601V	G	-	2	0	TRERF1	42339118	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.972000	0.49256	2.307000	0.77673	0.561000	0.74099	GGG		TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	
DST	667	hgsc.bcm.edu	37	6	56483631	56483631	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr6:56483631T>C	ENST00000370765.6	-	23	5308	c.5201A>G	c.(5200-5202)cAc>cGc	p.H1734R	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	3810					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATCTTTCTGTGGGTCATCTG	0.383																																																	0			6											143.0	151.0	148.0					6																	56483631		2203	4300	6503	56591590	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5201A>G	6.37:g.56483631T>C	ENSP00000359801:p.His1734Arg	Somatic		Capture	Illumina HiSeq	Phase_I	56591590	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.274069	0.23221	.	.	ENSG00000151914	ENST00000370765	T	0.77229	-1.08	5.34	4.15	0.48705	.	.	.	.	.	T	0.39572	0.1083	.	.	.	0.20307	N	0.999915	B	0.06786	0.001	B	0.08055	0.003	T	0.04635	-1.0937	7	0.10377	T	0.69	.	9.5443	0.39271	0.0:0.1958:0.0:0.8042	.	1734	Q03001-3	.	R	1734	ENSP00000359801:H1734R	ENSP00000359801:H1734R	H	-	2	0	DST	56591590	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.877000	0.28106	0.923000	0.37045	0.528000	0.53228	CAC		DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
BACH2	60468	hgsc.bcm.edu	37	6	90660040	90660040	+	Silent	SNP	C	C	T	rs558363430		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr6:90660040C>T	ENST00000257749.4	-	7	2492	c.1785G>A	c.(1783-1785)tcG>tcA	p.S595S	BACH2_ENST00000343122.3_Silent_p.S595S|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.S595S|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	595						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTCCGAGAACGATCCGGATT	0.527																																																	0			6											126.0	120.0	122.0					6																	90660040		2203	4300	6503	90716761	SO:0001819	synonymous_variant	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1785G>A	6.37:g.90660040C>T		Somatic		Capture	Illumina HiSeq	Phase_I	90716761	E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	CCDS5026.1																																																																																				BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813	
RSPH4A	345895	hgsc.bcm.edu	37	6	116948931	116948931	+	Missense_Mutation	SNP	G	G	A	rs367712020		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr6:116948931G>A	ENST00000229554.5	+	3	1198	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R354H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	354					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAAAGATGCCGCTTCTGGGGA	0.448									Kartagener syndrome																																								0			6						G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	96.0	97.0	96.0		1061,1061	4.6	1.0	6		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RSPH4A	NM_001010892.2,NM_001161664.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	354/717,354/601	116948931	1,13005	2203	4300	6503	117055624	SO:0001583	missense	345895	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1061G>A	6.37:g.116948931G>A	ENSP00000229554:p.Arg354His	Somatic		Capture	Illumina HiSeq	Phase_I	117055624	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011374	0.75046	0.0	1.16E-4	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.34859	1.34;1.34	5.48	4.61	0.57282	.	0.110202	0.64402	N	0.000009	T	0.37156	0.0993	M	0.75264	2.295	0.58432	D	0.999997	D;P	0.65815	0.995;0.798	P;B	0.54815	0.761;0.229	T	0.38067	-0.9678	10	0.54805	T	0.06	-3.2385	8.3999	0.32579	0.1766:0.0:0.8234:0.0	.	354;354	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	H	354;354;149	ENSP00000357570:R354H;ENSP00000229554:R354H	ENSP00000229554:R354H	R	+	2	0	RSPH4A	117055624	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.678000	0.84035	1.294000	0.44707	0.591000	0.81541	CGC		RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892	
TAAR5	9038	hgsc.bcm.edu	37	6	132910614	132910614	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr6:132910614A>G	ENST00000258034.2	-	1	263	c.212T>C	c.(211-213)tTc>tCc	p.F71S		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	71					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GAGCAGCAGGAAGTTGGTGGG	0.567																																																	0			6											177.0	180.0	179.0					6																	132910614		2203	4300	6503	132952307	SO:0001583	missense	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.212T>C	6.37:g.132910614A>G	ENSP00000258034:p.Phe71Ser	Somatic		Capture	Illumina HiSeq	Phase_I	132952307	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.546986	0.45383	.	.	ENSG00000135569	ENST00000258034	T	0.72835	-0.69	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.193775	0.34268	N	0.004109	T	0.73179	0.3554	M	0.79011	2.435	0.39703	D	0.971213	P	0.45531	0.86	P	0.49502	0.613	T	0.79112	-0.1937	10	0.87932	D	0	-10.4169	15.6558	0.77133	1.0:0.0:0.0:0.0	.	71	O14804	TAAR5_HUMAN	S	71	ENSP00000258034:F71S	ENSP00000258034:F71S	F	-	2	0	TAAR5	132952307	0.066000	0.20996	0.927000	0.36925	0.545000	0.35147	2.655000	0.46707	2.280000	0.76307	0.533000	0.62120	TTC		TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967	
GRM1	2911	hgsc.bcm.edu	37	6	146720262	146720262	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr6:146720262G>T	ENST00000282753.1	+	7	2322	c.2087G>T	c.(2086-2088)cGg>cTg	p.R696L	GRM1_ENST00000392299.2_Missense_Mutation_p.R696L|GRM1_ENST00000355289.4_Missense_Mutation_p.R696L|GRM1_ENST00000492807.2_Missense_Mutation_p.R696L|GRM1_ENST00000361719.2_Missense_Mutation_p.R696L|GRM1_ENST00000507907.1_Missense_Mutation_p.R696L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	696			R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ATCTGCACCCGGAAGCCCAGG	0.512																																																	0			6											134.0	132.0	133.0					6																	146720262		2203	4300	6503	146761955	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2087G>T	6.37:g.146720262G>T	ENSP00000282753:p.Arg696Leu	Somatic		Capture	Illumina HiSeq	Phase_I	146761955	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076017	0.76415	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	L	0.54965	1.715	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.994	D;D;D	0.66716	0.935;0.946;0.935	D	0.91406	0.5147	10	0.87932	D	0	.	19.4081	0.94656	0.0:0.0:1.0:0.0	.	696;696;696	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	L	696	ENSP00000354896:R696L;ENSP00000376119:R696L;ENSP00000424095:R696L;ENSP00000282753:R696L;ENSP00000347437:R696L;ENSP00000425599:R696L	ENSP00000282753:R696L	R	+	2	0	GRM1	146761955	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.876000	0.87215	2.604000	0.88044	0.585000	0.79938	CGG		GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
TP53	7157	hgsc.bcm.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	7517846	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	Somatic		Capture	Illumina HiSeq	Phase_I	7517846	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	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
EFCAB13	124989	hgsc.bcm.edu	37	17	45438836	45438836	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr17:45438836C>T	ENST00000331493.2	+	10	1165	c.754C>T	c.(754-756)Cct>Tct	p.P252S	EFCAB13_ENST00000517484.1_Intron	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	252						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.P252S(1)									CATGGGTATCCCTATAAACCG	0.353																																																	1	Substitution - Missense(1)	central_nervous_system(1)	17											187.0	182.0	184.0					17																	45438836		2203	4300	6503	42793835	SO:0001583	missense	124989			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.754C>T	17.37:g.45438836C>T	ENSP00000332111:p.Pro252Ser	Somatic		Capture	Illumina HiSeq	Phase_I	42793835	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	C	0.243	-1.012309	0.02095	.	.	ENSG00000178852	ENST00000331493;ENST00000344176	T	0.32753	1.44	3.78	-4.4	0.03600	EF-hand-like domain (1);	2.388750	0.01940	N	0.041821	T	0.24122	0.0584	L	0.31664	0.95	0.09310	N	1	B;B	0.18013	0.025;0.009	B;B	0.11329	0.005;0.006	T	0.32798	-0.9893	10	0.51188	T	0.08	-14.2263	10.8007	0.46487	0.0:0.171:0.0:0.829	.	204;252	Q8N7U2;Q8IY85	.;CQ057_HUMAN	S	252;204	ENSP00000332111:P252S	ENSP00000332111:P252S	P	+	1	0	C17orf57	42793835	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.880000	0.04183	-1.036000	0.03287	-0.218000	0.12543	CCT		EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
KIF2B	84643	hgsc.bcm.edu	37	17	51901651	51901651	+	Silent	SNP	C	C	T	rs148923659	byFrequency	TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr17:51901651C>T	ENST00000268919.4	+	1	1413	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	419	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CACCTGTCAACGCTCACTCAT	0.507													C|||	13	0.00259585	0.0008	0.0014	5008	,	,		20711	0.0		0.005	False		,,,				2504	0.0061																0			17						C		9,4397	15.5+/-35.6	0,9,2194	100.0	75.0	83.0		1257	-9.0	0.1	17	dbSNP_134	83	61,8539	37.8+/-93.5	0,61,4239	no	coding-synonymous	KIF2B	NM_032559.4		0,70,6433	TT,TC,CC		0.7093,0.2043,0.5382		419/674	51901651	70,12936	2203	4300	6503	49256650	SO:0001819	synonymous_variant	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1257C>T	17.37:g.51901651C>T		Somatic		Capture	Illumina HiSeq	Phase_I	49256650	Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	CCDS32685.1																																																																																				KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
AXIN1	8312	hgsc.bcm.edu	37	16	396965	396965	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr16:396965G>A	ENST00000262320.3	-	2	432	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	AXIN1_ENST00000354866.3_Missense_Mutation_p.P21S|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	21					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGGGGTCGGGGAGCATCTTCG	0.572																																																	0			16											55.0	61.0	59.0					16																	396965		2203	4300	6503	336966	SO:0001583	missense	8312			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.61C>T	16.37:g.396965G>A	ENSP00000262320:p.Pro21Ser	Somatic		Capture	Illumina HiSeq	Phase_I	336966	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743788	0.89663	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.67171	-0.25;-0.22	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85614	0.1260	10	0.87932	D	0	-15.419	19.0272	0.92937	0.0:0.0:1.0:0.0	.	21;21	O15169-2;O15169	.;AXIN1_HUMAN	S	21	ENSP00000262320:P21S;ENSP00000346935:P21S	ENSP00000262320:P21S	P	-	1	0	AXIN1	336966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.647000	0.98478	2.517000	0.84864	0.650000	0.86243	CCC		AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		
KIAA0556	23247	hgsc.bcm.edu	37	16	27720104	27720104	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr16:27720104T>C	ENST00000261588.4	+	13	1487	c.1468T>C	c.(1468-1470)Tcg>Ccg	p.S490P	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000568831.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	490						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTGGGGCAACTCGTGGTGGGT	0.488																																																	0			16											110.0	97.0	102.0					16																	27720104		2197	4300	6497	27627605	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1468T>C	16.37:g.27720104T>C	ENSP00000261588:p.Ser490Pro	Somatic		Capture	Illumina HiSeq	Phase_I	27627605	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	T	8.296	0.818744	0.16607	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.13307	2.6	5.49	-8.74	0.00838	.	1.284590	0.05115	N	0.489669	T	0.04634	0.0126	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.37888	-0.9686	10	0.26408	T	0.33	-3.2659	6.7198	0.23325	0.1897:0.5346:0.1804:0.0953	.	398;490	Q8N803;O60303	.;K0556_HUMAN	P	490;397	ENSP00000261588:S490P	ENSP00000261588:S490P	S	+	1	0	KIAA0556	27627605	0.000000	0.05858	0.000000	0.03702	0.769000	0.43574	-1.331000	0.02672	-2.154000	0.00792	-0.464000	0.05259	TCG		KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
GPT2	84706	hgsc.bcm.edu	37	16	46943598	46943598	+	Silent	SNP	G	G	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr16:46943598G>T	ENST00000340124.4	+	6	691	c.579G>T	c.(577-579)acG>acT	p.T193T	GPT2_ENST00000440783.2_Silent_p.T93T	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	193					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	TGTTGCAGACGATCCTGAAGA	0.552																																																	0			16											46.0	46.0	46.0					16																	46943598		2203	4300	6503	45501099	SO:0001819	synonymous_variant	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.579G>T	16.37:g.46943598G>T		Somatic		Capture	Illumina HiSeq	Phase_I	45501099	Q8N9E2	Silent	SNP	ENST00000340124.4	37	CCDS10725.1																																																																																				GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2		
SALL1	6299	hgsc.bcm.edu	37	16	51172863	51172863	+	Silent	SNP	G	G	A	rs143637930		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr16:51172863G>A	ENST00000251020.4	-	2	3303	c.3270C>T	c.(3268-3270)aaC>aaT	p.N1090N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.N993N|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1090					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|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 (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCACGAAGCCGTTGACCTCTG	0.567																																					GBM(103;1352 1446 1855 4775 8890)												0			16						G	,	0,4396		0,0,2198	114.0	105.0	108.0		2979,3270	2.1	1.0	16	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SALL1	NM_001127892.1,NM_002968.2	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	993/1228,1090/1325	51172863	1,12995	2198	4300	6498	49730364	SO:0001819	synonymous_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3270C>T	16.37:g.51172863G>A		Somatic		Capture	Illumina HiSeq	Phase_I	49730364	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
SLC7A6	9057	hgsc.bcm.edu	37	16	68325537	68325537	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr16:68325537T>C	ENST00000566454.1	+	8	1264	c.995T>C	c.(994-996)cTc>cCc	p.L332P	SLC7A6_ENST00000219343.6_Missense_Mutation_p.L332P	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TTTGGGGGCCTCAATGCATCC	0.498																																																	0			16											305.0	257.0	273.0					16																	68325537		2198	4300	6498	66883038	SO:0001583	missense	9057			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.995T>C	16.37:g.68325537T>C	ENSP00000455064:p.Leu332Pro	Somatic		Capture	Illumina HiSeq	Phase_I	66883038		Missense_Mutation	SNP	ENST00000566454.1	37	CCDS32470.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.543821	0.86022	.	.	ENSG00000103064	ENST00000219343	D	0.91180	-2.8	5.09	5.09	0.68999	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96623	0.8898	H	0.96333	3.805	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.97530	1.0079	10	0.72032	D	0.01	.	13.0972	0.59200	0.0:0.0:0.0:1.0	.	332	Q92536	YLAT2_HUMAN	P	332	ENSP00000219343:L332P	ENSP00000219343:L332P	L	+	2	0	SLC7A6	66883038	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.719000	0.84751	2.036000	0.60181	0.533000	0.62120	CTC		SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983	
CHST6	4166	hgsc.bcm.edu	37	16	75513568	75513568	+	Silent	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr16:75513568C>T	ENST00000332272.4	-	3	338	c.159G>A	c.(157-159)tcG>tcA	p.S53S	CHST6_ENST00000390664.2_Silent_p.S53S|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	53			S -> L (in MCDC1). {ECO:0000269|PubMed:14609920, ECO:0000269|PubMed:14735064}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCACGAAGGACGAGCCCGAGC	0.677																																																	0			16											37.0	31.0	33.0					16																	75513568		2198	4300	6498	74071069	SO:0001819	synonymous_variant	4166			AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.159G>A	16.37:g.75513568C>T		Somatic		Capture	Illumina HiSeq	Phase_I	74071069	D3DUK3	Silent	SNP	ENST00000332272.4	37	CCDS10918.1																																																																																				CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615	
IMPA2	3613	hgsc.bcm.edu	37	18	12030353	12030353	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr18:12030353G>A	ENST00000269159.3	+	8	1005	c.763G>A	c.(763-765)Gac>Aac	p.D255N	RP11-703I16.1_ENST00000587619.1_RNA|IMPA2_ENST00000589238.1_Missense_Mutation_p.D66N|IMPA2_ENST00000588927.1_Missense_Mutation_p.D66N	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	255					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TGGACCCCTCGACCTCATGGC	0.557																																																	0			18											59.0	54.0	56.0					18																	12030353		2203	4300	6503	12020353	SO:0001583	missense	3613			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.763G>A	18.37:g.12030353G>A	ENSP00000269159:p.Asp255Asn	Somatic		Capture	Illumina HiSeq	Phase_I	12020353	B0YJ29|Q9UJT3	Missense_Mutation	SNP	ENST00000269159.3	37	CCDS11855.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012312	0.75046	.	.	ENSG00000141401	ENST00000269159	T	0.54071	0.59	4.55	4.55	0.56014	.	0.056003	0.64402	D	0.000002	T	0.44201	0.1282	N	0.25245	0.725	0.80722	D	1	B;P	0.40302	0.016;0.712	B;B	0.40677	0.022;0.337	T	0.47249	-0.9132	10	0.45353	T	0.12	-38.1128	18.1888	0.89800	0.0:0.0:1.0:0.0	.	228;255	O14732-2;O14732	.;IMPA2_HUMAN	N	255	ENSP00000269159:D255N	ENSP00000269159:D255N	D	+	1	0	IMPA2	12020353	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	6.214000	0.72200	2.471000	0.83476	0.561000	0.74099	GAC		IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1		
EPG5	57724	hgsc.bcm.edu	37	18	43490628	43490628	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr18:43490628G>A	ENST00000282041.5	-	23	4097	c.4063C>T	c.(4063-4065)Cgt>Tgt	p.R1355C	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1355					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCGGTCAAACGTCTCTTCATT	0.488											OREG0024952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			18											86.0	84.0	84.0					18																	43490628		1884	4124	6008	41744626	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4063C>T	18.37:g.43490628G>A	ENSP00000282041:p.Arg1355Cys	Somatic	916	Capture	Illumina HiSeq	Phase_I	41744626	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906187	0.72868	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.13778	2.56	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000023	T	0.38639	0.1048	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.17167	-1.0378	10	0.87932	D	0	-13.5852	18.7803	0.91930	0.0:0.0:1.0:0.0	.	1355;1355	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	C	1355;230	ENSP00000282041:R1355C	ENSP00000282041:R1355C	R	-	1	0	EPG5	41744626	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	4.869000	0.63028	2.443000	0.82685	0.655000	0.94253	CGT		EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
C3orf20	84077	hgsc.bcm.edu	37	3	14745919	14745919	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr3:14745919G>T	ENST00000253697.3	+	7	1406	c.954G>T	c.(952-954)atG>atT	p.M318I	C3orf20_ENST00000435614.1_Missense_Mutation_p.M196I|C3orf20_ENST00000412910.1_Missense_Mutation_p.M196I|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	318						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGGCAAAGATGCCCTCTCATC	0.512																																																	0			3											124.0	131.0	128.0					3																	14745919		2203	4300	6503	14720923	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.954G>T	3.37:g.14745919G>T	ENSP00000253697:p.Met318Ile	Somatic		Capture	Illumina HiSeq	Phase_I	14720923	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	0.772	-0.765465	0.02996	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08193	3.42;3.12;3.12	4.64	-3.56	0.04626	.	1.408720	0.04393	N	0.362683	T	0.03305	0.0096	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40232	-0.9574	10	0.07644	T	0.81	-0.2902	5.3883	0.16229	0.528:0.0:0.3332:0.1388	.	318	Q8ND61	CC020_HUMAN	I	318;196;196	ENSP00000253697:M318I;ENSP00000402933:M196I;ENSP00000396081:M196I	ENSP00000253697:M318I	M	+	3	0	C3orf20	14720923	0.000000	0.05858	0.001000	0.08648	0.191000	0.23601	-1.450000	0.02390	-1.111000	0.02988	-0.237000	0.12165	ATG		C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
ACVR2B	93	hgsc.bcm.edu	37	3	38520643	38520643	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr3:38520643C>T	ENST00000352511.4	+	6	1163	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCAGAGTGAACGGGAGATCTT	0.592																																																	0			3											163.0	157.0	159.0					3																	38520643		2203	4300	6503	38495647	SO:0001583	missense	93			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.691C>T	3.37:g.38520643C>T	ENSP00000340361:p.Arg231Trp	Somatic		Capture	Illumina HiSeq	Phase_I	38495647	Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043424	0.36085	.	.	ENSG00000114739	ENST00000352511	D	0.93547	-3.24	4.61	1.74	0.24563	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.192399	0.42682	N	0.000678	D	0.90518	0.7029	M	0.80422	2.495	0.38355	D	0.944453	B	0.31752	0.338	B	0.18871	0.023	D	0.86130	0.1574	10	0.52906	T	0.07	.	8.2593	0.31775	0.5486:0.3733:0.0:0.0781	.	231	Q13705	AVR2B_HUMAN	W	231	ENSP00000340361:R231W	ENSP00000340361:R231W	R	+	1	2	ACVR2B	38495647	0.586000	0.26782	0.361000	0.25849	0.983000	0.72400	0.485000	0.22324	0.150000	0.19136	0.563000	0.77884	CGG		ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106	
CLSTN2	64084	hgsc.bcm.edu	37	3	140265423	140265423	+	Missense_Mutation	SNP	G	G	A	rs202013971		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr3:140265423G>A	ENST00000458420.3	+	10	1764	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	525					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)			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						CTCACCATCCGCCCTGGCAAA	0.498										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0			3											58.0	56.0	56.0					3																	140265423		2203	4300	6503	141748113	SO:0001583	missense	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.1574G>A	3.37:g.140265423G>A	ENSP00000402460:p.Arg525His	Somatic		Capture	Illumina HiSeq	Phase_I	141748113	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643905	0.87859	.	.	ENSG00000158258	ENST00000458420	T	0.02158	4.42	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.09862	0.0242	L	0.56199	1.76	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.08249	-1.0731	9	.	.	.	-13.5529	16.2435	0.82429	0.0:0.0:1.0:0.0	.	525	Q9H4D0	CSTN2_HUMAN	H	525	ENSP00000402460:R525H	.	R	+	2	0	CLSTN2	141748113	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.476000	0.97823	2.420000	0.82092	0.455000	0.32223	CGC		CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
SLC2A3	6515	hgsc.bcm.edu	37	12	8075422	8075422	+	Missense_Mutation	SNP	C	C	T	rs201737691		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr12:8075422C>T	ENST00000075120.7	-	9	1507	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	423					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.A423S(2)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTTACAGCAGCGGAGGGGAAG	0.547																																					Colon(96;424 1461 14416 20933 23688)												2	Substitution - Missense(2)	lung(2)	12											46.0	47.0	47.0					12																	8075422		2203	4300	6503	7966689	SO:0001583	missense	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1267G>A	12.37:g.8075422C>T	ENSP00000075120:p.Ala423Thr	Somatic		Capture	Illumina HiSeq	Phase_I	7966689	B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503157	0.44558	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.81078	-1.45	4.34	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.119065	0.56097	D	0.000022	D	0.85483	0.5707	L	0.55481	1.735	0.35028	D	0.758461	D	0.57571	0.98	P	0.61477	0.889	D	0.90292	0.4323	10	0.87932	D	0	.	14.7219	0.69314	0.0:1.0:0.0:0.0	.	423	P11169	GTR3_HUMAN	T	423;349	ENSP00000075120:A423T	ENSP00000075120:A423T	A	-	1	0	SLC2A3	7966689	0.944000	0.32072	0.938000	0.37757	0.037000	0.13140	2.007000	0.40883	2.398000	0.81561	0.655000	0.94253	GCT		SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931	
CLEC1A	51267	hgsc.bcm.edu	37	12	10233936	10233936	+	Silent	SNP	G	G	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr12:10233936G>T	ENST00000315330.4	-	3	353	c.291C>A	c.(289-291)tcC>tcA	p.S97S	CLEC1A_ENST00000457018.2_Silent_p.S64S|CLEC1A_ENST00000420265.2_Intron|RN7SKP161_ENST00000411110.1_RNA	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	97					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GCAACTCTTGGGACGTATTTC	0.423																																																	0			12											128.0	127.0	127.0					12																	10233936		2203	4300	6503	10125203	SO:0001819	synonymous_variant	51267			AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.291C>A	12.37:g.10233936G>T		Somatic		Capture	Illumina HiSeq	Phase_I	10125203	Q8IUW7|Q9NZH3	Silent	SNP	ENST00000315330.4	37	CCDS8612.1																																																																																				CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	
LOH12CR1	118426	hgsc.bcm.edu	37	12	12514215	12514215	+	Missense_Mutation	SNP	G	G	A	rs144877374	byFrequency	TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr12:12514215G>A	ENST00000314565.4	+	2	465	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	LOH12CR1_ENST00000542728.1_Missense_Mutation_p.R26Q|LOH12CR1_ENST00000298571.6_Intron	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	45								p.R45Q(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CAGGCCTCACGGAACGTCAGC	0.458																																																	1	Substitution - Missense(1)	ovary(1)	12						G	GLN/ARG	0,4406		0,0,2203	190.0	172.0	178.0		134	6.0	1.0	12	dbSNP_134	178	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOH12CR1	NM_058169.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	45/197	12514215	1,13005	2203	4300	6503	12405482	SO:0001583	missense	118426			AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.134G>A	12.37:g.12514215G>A	ENSP00000321546:p.Arg45Gln	Somatic		Capture	Illumina HiSeq	Phase_I	12405482	Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	g	15.16	2.752380	0.49362	0.0	1.16E-4	ENSG00000165714	ENST00000542728;ENST00000314565	T;T	0.30448	1.53;1.53	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.06770	-1.0808	10	0.12766	T	0.61	-22.113	20.1362	0.98031	0.0:0.0:1.0:0.0	.	45	Q969J3	L12R1_HUMAN	Q	26;45	ENSP00000443023:R26Q;ENSP00000321546:R45Q	ENSP00000321546:R45Q	R	+	2	0	LOH12CR1	12405482	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	9.353000	0.97080	2.861000	0.98227	0.651000	0.88453	CGG		LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1		
PYROXD1	79912	hgsc.bcm.edu	37	12	21590675	21590675	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr12:21590675C>G	ENST00000240651.9	+	1	65	c.11C>G	c.(10-12)gCg>gGg	p.A4G	PYROXD1_ENST00000545178.1_Missense_Mutation_p.A4G|PYROXD1_ENST00000538582.1_5'Flank	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	4							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						ATGGAGGCAGCGCGCCCTCCC	0.687																																																	0			12											17.0	21.0	19.0					12																	21590675		2201	4300	6501	21481942	SO:0001583	missense	79912			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.11C>G	12.37:g.21590675C>G	ENSP00000240651:p.Ala4Gly	Somatic		Capture	Illumina HiSeq	Phase_I	21481942	A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	ENST00000240651.9	37	CCDS31755.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883879	0.72410	.	.	ENSG00000121350	ENST00000545178;ENST00000240651	.	.	.	5.57	3.72	0.42706	.	0.781535	0.11925	N	0.516320	T	0.38799	0.1054	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27706	-1.0066	9	0.44086	T	0.13	.	9.221	0.37377	0.0:0.7752:0.1456:0.0792	.	4	Q8WU10	PYRD1_HUMAN	G	4	.	ENSP00000240651:A4G	A	+	2	0	PYROXD1	21481942	0.000000	0.05858	0.001000	0.08648	0.910000	0.53928	0.777000	0.26718	0.683000	0.31428	0.643000	0.83706	GCG		PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854	
SYT10	341359	hgsc.bcm.edu	37	12	33559864	33559864	+	Missense_Mutation	SNP	T	T	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr12:33559864T>G	ENST00000228567.3	-	3	1233	c.937A>C	c.(937-939)Aaa>Caa	p.K313Q	RP11-438D14.2_ENST00000561632.1_lincRNA|SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_Missense_Mutation_p.K132Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	313	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AAATGTAGTTTTCGGTTGCTT	0.353																																																	0			12											110.0	110.0	110.0					12																	33559864		2203	4300	6503	33451131	SO:0001583	missense	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.937A>C	12.37:g.33559864T>G	ENSP00000228567:p.Lys313Gln	Somatic		Capture	Illumina HiSeq	Phase_I	33451131	Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826698	0.71143	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.07688	3.17;3.17	4.73	4.73	0.59995	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.44097	U	0.000485	T	0.18425	0.0442	L	0.33189	0.99	0.49299	D	0.999779	D	0.67145	0.996	D	0.72625	0.978	T	0.01081	-1.1458	10	0.54805	T	0.06	.	14.1024	0.65065	0.0:0.0:0.0:1.0	.	313	Q6XYQ8	SYT10_HUMAN	Q	313;132	ENSP00000228567:K313Q;ENSP00000438691:K132Q	ENSP00000228567:K313Q	K	-	1	0	SYT10	33451131	1.000000	0.71417	0.990000	0.47175	0.967000	0.64934	5.870000	0.69620	2.056000	0.61249	0.460000	0.39030	AAA		SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992	
ALDH2	217	hgsc.bcm.edu	37	12	112229927	112229927	+	Silent	SNP	G	G	T	rs554937672		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr12:112229927G>T	ENST00000261733.2	+	8	919	c.858G>T	c.(856-858)ctG>ctT	p.L286L	ALDH2_ENST00000416293.3_Silent_p.L239L	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	286					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CCTTGGAGCTGGGGGGGAAGA	0.572			T	HMGA2	leiomyoma																																			Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	2	Insertion - Frameshift(2)	ovary(2)	12																																								110714310	SO:0001819	synonymous_variant	217			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.858G>T	12.37:g.112229927G>T		Somatic		Capture	Illumina HiSeq	Phase_I	110714310	B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Silent	SNP	ENST00000261733.2	37	CCDS9155.1																																																																																				ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690	
RFC5	5985	hgsc.bcm.edu	37	12	118462802	118462802	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr12:118462802G>A	ENST00000454402.2	+	6	686	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	RFC5_ENST00000392542.2_Missense_Mutation_p.V169M|RFC5_ENST00000229043.3_Missense_Mutation_p.V105M	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	190					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAACATGTCGTGGAAGAAGA	0.532																																																	0			12											86.0	85.0	86.0					12																	118462802		2203	4300	6503	116947185	SO:0001583	missense	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.568G>A	12.37:g.118462802G>A	ENSP00000408295:p.Val190Met	Somatic		Capture	Illumina HiSeq	Phase_I	116947185	A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.254159	0.39896	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.45276	1.46;0.9;1.9	5.47	1.09	0.20402	.	0.407102	0.26784	N	0.022512	T	0.31199	0.0789	M	0.68952	2.095	0.19300	N	0.99997	P;P;P	0.40476	0.5;0.5;0.718	B;B;B	0.22880	0.042;0.042;0.042	T	0.25012	-1.0144	10	0.62326	D	0.03	-13.1107	9.5861	0.39517	0.4026:0.0:0.5974:0.0	.	169;204;190	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	M	105;190;169	ENSP00000229043:V105M;ENSP00000408295:V190M;ENSP00000376325:V169M	ENSP00000229043:V105M	V	+	1	0	RFC5	116947185	0.140000	0.22579	0.004000	0.12327	0.955000	0.61496	0.840000	0.27600	0.290000	0.22444	0.563000	0.77884	GTG		RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370	
SUPT20HL1	100130302	hgsc.bcm.edu	37	X	24382405	24382405	+	IGR	SNP	G	G	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chrX:24382405G>C								AC004552.1 (15382 upstream) : PDK3 (100932 downstream)																							tgctgctgctgctgctgctgc	0.602																																																	0			X											2.0	3.0	2.0					X																	24382405		930	2265	3195	24292326	SO:0001628	intergenic_variant	100130302																															X.37:g.24382405G>C		Somatic		Capture	Illumina HiSeq	Phase_I	24292326		Missense_Mutation	SNP		37																																																																																				0								
P2RY10	27334	hgsc.bcm.edu	37	X	78216827	78216828	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chrX:78216827_78216828GG>TT	ENST00000171757.2	+	4	1090_1091	c.810_811GG>TT	c.(808-813)aaGGaa>aaTTaa	p.270_271KE>N*	P2RY10_ENST00000544091.1_Nonsense_Mutation_p.270_271KE>N*	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	270						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						CCATGGTAAAGGAAACCATCAT	0.446																																																	0			X																																								78103483|78103484	SO:0001587	stop_gained	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	Exception_encountered	X.37:g.78216827_78216828delinsTT	ENSP00000171757:p.K270_E271delinsN*	Somatic		Capture	Illumina HiSeq	Phase_I	78103483|78103484	D3DTE5|Q4VBN7|Q86V16	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000171757.2	37	CCDS14442.1																																																																																				P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
POF1B	79983	hgsc.bcm.edu	37	X	84562263	84562263	+	Missense_Mutation	SNP	A	A	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chrX:84562263A>C	ENST00000262753.4	-	11	1215	c.1070T>G	c.(1069-1071)aTg>aGg	p.M357R	POF1B_ENST00000373145.3_Missense_Mutation_p.M357R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	357						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTCAAGTCTCATCTTGTCATT	0.338																																																	0			X											105.0	81.0	90.0					X																	84562263		2201	4296	6497	84448919	SO:0001583	missense	79983			BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1070T>G	X.37:g.84562263A>C	ENSP00000262753:p.Met357Arg	Somatic		Capture	Illumina HiSeq	Phase_I	84448919	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	A	9.204	1.029148	0.19512	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	T;T	0.81247	-1.47;-1.47	5.24	5.24	0.73138	.	0.430476	0.29165	N	0.012958	T	0.53997	0.1831	N	0.03608	-0.345	0.22779	N	0.998747	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38351	-0.9665	10	0.14656	T	0.56	.	4.8721	0.13639	0.7151:0.188:0.0968:0.0	.	357;357	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	R	357	ENSP00000262753:M357R;ENSP00000362238:M357R	ENSP00000262753:M357R	M	-	2	0	POF1B	84448919	0.971000	0.33674	1.000000	0.80357	0.988000	0.76386	2.633000	0.46519	1.728000	0.51552	0.486000	0.48141	ATG		POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921	
BEX1	55859	hgsc.bcm.edu	37	X	102318190	102318190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chrX:102318190C>A	ENST00000372728.3	-	3	252	c.13G>T	c.(13-15)Gag>Tag	p.E5*		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	5					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						GCTCGTTTCTCTTTGGACTCC	0.478																																																	0			X											155.0	159.0	157.0					X																	102318190		2201	4291	6492	102204846	SO:0001587	stop_gained	84707				CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.13G>T	X.37:g.102318190C>A	ENSP00000361813:p.Glu5*	Somatic		Capture	Illumina HiSeq	Phase_I	102204846	A0AVN1|A8K4J3|Q9NZ33	Nonsense_Mutation	SNP	ENST00000372728.3	37	CCDS35354.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066383	0.55539	.	.	ENSG00000133169	ENST00000372728	.	.	.	3.1	1.99	0.26369	.	0.593314	0.14179	N	0.336194	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	4.2062	0.10490	0.0:0.7239:0.0:0.2761	.	.	.	.	X	5	.	ENSP00000361813:E5X	E	-	1	0	BEX1	102204846	0.546000	0.26457	0.245000	0.24217	0.204000	0.24138	0.016000	0.13377	0.465000	0.27167	0.600000	0.82982	GAG		BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476	
SMARCA1	6594	hgsc.bcm.edu	37	X	128649686	128649686	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chrX:128649686T>C	ENST00000371122.4	-	5	737	c.608A>G	c.(607-609)aAt>aGt	p.N203S	SMARCA1_ENST00000371123.1_Missense_Mutation_p.N203S|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Missense_Mutation_p.N203S	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	203	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CAAAATGCCATTGACTCCATT	0.368																																																	0			X											86.0	84.0	85.0					X																	128649686		2203	4300	6503	128477367	SO:0001583	missense	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.608A>G	X.37:g.128649686T>C	ENSP00000360163:p.Asn203Ser	Somatic		Capture	Illumina HiSeq	Phase_I	128477367	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476628	0.44044	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	5.78	5.78	0.91487	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.90410	0.6998	L	0.46670	1.46	0.80722	D	1	P;P;B;P	0.40578	0.476;0.722;0.421;0.476	P;P;B;P	0.46275	0.51;0.51;0.376;0.51	D	0.87801	0.2625	10	0.09084	T	0.74	-21.8427	15.0274	0.71680	0.0:0.0:0.0:1.0	.	182;203;203;203	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	S	203;203;203;182	ENSP00000360162:N203S;ENSP00000360164:N203S;ENSP00000360163:N203S;ENSP00000404275:N182S	ENSP00000360162:N203S	N	-	2	0	SMARCA1	128477367	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	1.931000	0.55961	0.486000	0.48141	AAT		SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
HCFC1	3054	hgsc.bcm.edu	37	X	153218216	153218216	+	Missense_Mutation	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chrX:153218216G>A	ENST00000310441.7	-	19	5657	c.4691C>T	c.(4690-4692)tCt>tTt	p.S1564F	HCFC1_ENST00000354233.3_Missense_Mutation_p.S1495F|HCFC1_ENST00000369984.4_Missense_Mutation_p.S1608F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1564					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCACCGCAGAGCCGGCAGA	0.657											OREG0003630	type=REGULATORY REGION|Gene=BC010606|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0			X											22.0	27.0	26.0					X																	153218216		2060	4179	6239	152871410	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.4691C>T	X.37:g.153218216G>A	ENSP00000309555:p.Ser1564Phe	Somatic	1753	Capture	Illumina HiSeq	Phase_I	152871410	Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604003	0.46423	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03413	4.03;3.94;4.03	5.79	5.79	0.91817	.	0.417595	0.26542	N	0.023787	T	0.03053	0.0090	N	0.08118	0	0.32016	N	0.601403	P	0.47350	0.894	B	0.41813	0.367	T	0.27331	-1.0077	10	0.66056	D	0.02	.	14.2609	0.66085	0.0:0.0:1.0:0.0	.	1564	P51610	HCFC1_HUMAN	F	1564;1608;1495	ENSP00000309555:S1564F;ENSP00000359001:S1608F;ENSP00000346174:S1495F	ENSP00000309555:S1564F	S	-	2	0	HCFC1	152871410	0.990000	0.36364	0.898000	0.35279	0.565000	0.35776	2.399000	0.44495	2.443000	0.82685	0.513000	0.50165	TCT		HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
PLXNA3	55558	hgsc.bcm.edu	37	X	153699912	153699912	+	Silent	SNP	C	C	T	rs374284684		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chrX:153699912C>T	ENST00000369682.3	+	32	5626	c.5451C>T	c.(5449-5451)caC>caT	p.H1817H		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1817					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					CCCGCCTCCACGCCAGCGACT	0.552													C|||	2	0.000529801	0.0	0.0	3775	,	,		15818	0.002		0.0	False		,,,				2504	0.0																0			X											91.0	71.0	78.0					X																	153699912		2203	4300	6503	153353106	SO:0001819	synonymous_variant	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5451C>T	X.37:g.153699912C>T		Somatic		Capture	Illumina HiSeq	Phase_I	153353106	Q5HY36	Silent	SNP	ENST00000369682.3	37	CCDS14752.1																																																																																				PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	
EVC	2121	hgsc.bcm.edu	37	4	5798894	5798894	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr4:5798894C>T	ENST00000264956.6	+	14	2216	c.2032C>T	c.(2032-2034)Cgt>Tgt	p.R678C	EVC_ENST00000382674.2_Missense_Mutation_p.R678C|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	678					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCGGGAACAGCGTGCACTGGA	0.672																																																	0			4											37.0	36.0	36.0					4																	5798894		2203	4300	6503	5849795	SO:0001583	missense	2121			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2032C>T	4.37:g.5798894C>T	ENSP00000264956:p.Arg678Cys	Somatic		Capture	Illumina HiSeq	Phase_I	5849795		Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287739	0.23478	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.54071	0.59;0.59	5.04	2.95	0.34219	.	0.838124	0.10519	N	0.665193	T	0.35098	0.0920	N	0.14661	0.345	0.09310	N	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.20739	-1.0266	10	0.38643	T	0.18	.	10.0359	0.42129	0.0:0.7999:0.0:0.2001	.	678	P57679	EVC_HUMAN	C	678	ENSP00000264956:R678C;ENSP00000372120:R678C	ENSP00000264956:R678C	R	+	1	0	EVC	5849795	0.147000	0.22687	0.497000	0.27552	0.763000	0.43281	1.739000	0.38217	1.135000	0.42183	-0.229000	0.12294	CGT		EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		
DRD5	1816	hgsc.bcm.edu	37	4	9783971	9783971	+	Silent	SNP	C	C	T	rs113695344		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr4:9783971C>T	ENST00000304374.2	+	1	714	c.318C>T	c.(316-318)taC>taT	p.Y106Y		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	106					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGGCCGGTTACTGGCCCTTTG	0.602																																																	0			4											50.0	48.0	49.0					4																	9783971		2203	4300	6503	9393069	SO:0001819	synonymous_variant	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.318C>T	4.37:g.9783971C>T		Somatic		Capture	Illumina HiSeq	Phase_I	9393069	B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	CCDS3405.1																																																																																				DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
HSD17B11	51170	hgsc.bcm.edu	37	4	88278432	88278432	+	Splice_Site	SNP	T	T	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr4:88278432T>C	ENST00000358290.4	-	5	1009	c.694A>G	c.(694-696)Agt>Ggt	p.S232G	HSD17B11_ENST00000507286.1_Splice_Site_p.S188G|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	232					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TCAACTTACCTTGTACTTGGA	0.378																																																	0			4											130.0	107.0	115.0					4																	88278432		2202	4300	6502	88497456	SO:0001630	splice_region_variant	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.695+1A>G	4.37:g.88278432T>C		Somatic		Capture	Illumina HiSeq	Phase_I	88497456	Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.937985	0.34189	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.89485	-2.52;0.74	5.66	4.47	0.54385	NAD(P)-binding domain (1);	0.405503	0.27362	N	0.019716	T	0.80171	0.4574	N	0.20483	0.58	0.30689	N	0.751498	B	0.24426	0.103	B	0.21360	0.034	T	0.75010	-0.3468	10	0.40728	T	0.16	.	10.7948	0.46453	0.0:0.0755:0.0:0.9245	.	232	Q8NBQ5	DHB11_HUMAN	G	232;188	ENSP00000351035:S232G;ENSP00000423775:S188G	ENSP00000351035:S232G	S	-	1	0	HSD17B11	88497456	1.000000	0.71417	0.725000	0.30721	0.653000	0.38743	3.252000	0.51461	0.961000	0.38030	0.459000	0.35465	AGT		HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245	Missense_Mutation
SGMS2	166929	hgsc.bcm.edu	37	4	108831580	108831580	+	Silent	SNP	A	A	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr4:108831580A>G	ENST00000394684.4	+	7	1526	c.969A>G	c.(967-969)aaA>aaG	p.K323K	SGMS2_ENST00000394686.3_Silent_p.K323K|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Silent_p.K323K	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	323					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.K323N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		TTTTTGAGAAAAATGTACAAG	0.398																																																	1	Substitution - Missense(1)	lung(1)	4											73.0	77.0	76.0					4																	108831580		2203	4300	6503	109051029	SO:0001819	synonymous_variant	166929			BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.969A>G	4.37:g.108831580A>G		Somatic		Capture	Illumina HiSeq	Phase_I	109051029	A8K2S9|B2RA61	Silent	SNP	ENST00000394684.4	37	CCDS3677.1																																																																																				SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621	
PAPOLG	64895	hgsc.bcm.edu	37	2	61018964	61018964	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:61018964A>G	ENST00000238714.3	+	16	1714	c.1465A>G	c.(1465-1467)Aaa>Gaa	p.K489E		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	489					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TCATGTAAAGAAAAAACAACT	0.323																																					GBM(183;1497 2932 21839 46797)												0			2											99.0	98.0	98.0					2																	61018964		2203	4300	6503	60872468	SO:0001583	missense	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1465A>G	2.37:g.61018964A>G	ENSP00000238714:p.Lys489Glu	Somatic		Capture	Illumina HiSeq	Phase_I	60872468	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.513805	0.85389	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	6.02	6.02	0.97574	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.089217	0.85682	D	0.000000	T	0.60077	0.2241	L	0.48642	1.525	0.49915	D	0.999837	P;D;P	0.55385	0.939;0.971;0.755	P;P;P	0.50934	0.589;0.654;0.61	T	0.64305	-0.6439	9	0.87932	D	0	-5.3497	12.1182	0.53878	0.8569:0.1431:0.0:0.0	.	178;23;489	E9PEP5;Q53T81;Q9BWT3	.;.;PAPOG_HUMAN	E	489;178;157	.	ENSP00000238714:K489E	K	+	1	0	PAPOLG	60872468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.062000	0.76706	2.311000	0.77944	0.533000	0.62120	AAA		PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894	
CLEC4F	165530	hgsc.bcm.edu	37	2	71043808	71043808	+	Silent	SNP	C	C	T	rs370818847		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:71043808C>T	ENST00000272367.2	-	4	781	c.705G>A	c.(703-705)acG>acA	p.T235T	CLEC4F_ENST00000426626.1_Silent_p.T235T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	235					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GGGTATTTGCCGTTTCCAAAC	0.418																																					Colon(107;10 2157 6841 26035)												0			2						C		0,4406		0,0,2203	75.0	73.0	74.0		705	1.4	0.0	2		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLEC4F	NM_173535.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		235/590	71043808	1,13005	2203	4300	6503	70897316	SO:0001819	synonymous_variant	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.705G>A	2.37:g.71043808C>T		Somatic		Capture	Illumina HiSeq	Phase_I	70897316	A4QPA5	Silent	SNP	ENST00000272367.2	37	CCDS1910.1																																																																																				CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535	
EVA1A	84141	hgsc.bcm.edu	37	2	75720624	75720624	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:75720624C>T	ENST00000233712.1	-	4	634	c.197G>A	c.(196-198)cGt>cAt	p.R66H	EVA1A_ENST00000393913.3_Missense_Mutation_p.R66H|EVA1A_ENST00000410113.1_Missense_Mutation_p.R66H|EVA1A_ENST00000410071.1_Missense_Mutation_p.R66H|EVA1A_ENST00000410010.1_Missense_Mutation_p.R54H|EVA1A_ENST00000490746.1_Intron	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	66					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											CTTCCCGGGACGCCGCCTGCA	0.607																																																	0			2											53.0	48.0	50.0					2																	75720624		2203	4300	6503	75574132	SO:0001583	missense	84141			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.197G>A	2.37:g.75720624C>T	ENSP00000233712:p.Arg66His	Somatic		Capture	Illumina HiSeq	Phase_I	75574132	D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270728	0.23221	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.9	1.8	0.24995	.	0.703036	0.14788	N	0.298393	T	0.30070	0.0753	L	0.42245	1.32	0.26934	N	0.966398	B	0.11235	0.004	B	0.06405	0.002	T	0.18903	-1.0322	10	0.44086	T	0.13	-2.3466	4.5148	0.11930	0.0:0.4849:0.2972:0.218	.	66	Q9H8M9	F176A_HUMAN	H	66;66;66;54;66;66;66	ENSP00000377490:R66H;ENSP00000233712:R66H;ENSP00000386435:R66H;ENSP00000386835:R54H;ENSP00000386930:R66H;ENSP00000398249:R66H;ENSP00000388105:R66H	ENSP00000233712:R66H	R	-	2	0	FAM176A	75574132	0.000000	0.05858	0.026000	0.17262	0.339000	0.28857	0.314000	0.19432	0.686000	0.31488	0.650000	0.86243	CGT		EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181	
RIF1	55183	hgsc.bcm.edu	37	2	152293857	152293857	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:152293857A>G	ENST00000243326.5	+	12	1958	c.1475A>G	c.(1474-1476)gAt>gGt	p.D492G	RIF1_ENST00000428287.2_Missense_Mutation_p.D492G|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Missense_Mutation_p.D492G|RIF1_ENST00000430328.2_Missense_Mutation_p.D492G|RIF1_ENST00000453091.2_Missense_Mutation_p.D492G			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GTTGGAAAAGATGCCCCCGGT	0.393																																																	0			2											90.0	87.0	88.0					2																	152293857		2203	4300	6503	152002103	SO:0001583	missense	55791			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1475A>G	2.37:g.152293857A>G	ENSP00000243326:p.Asp492Gly	Somatic		Capture	Illumina HiSeq	Phase_I	152002103	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602908	0.46423	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.45	4.28	0.50868	.	0.095236	0.64402	D	0.000001	T	0.69468	0.3114	L	0.60455	1.87	0.80722	D	1	D;D	0.58620	0.983;0.979	P;P	0.57548	0.697;0.823	T	0.68800	-0.5313	10	0.44086	T	0.13	-14.2986	11.7057	0.51595	0.8672:0.0:0.0:0.1328	.	492;492	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	G	492	ENSP00000390181:D492G;ENSP00000414615:D492G;ENSP00000415691:D492G;ENSP00000243326:D492G;ENSP00000416123:D492G	ENSP00000243326:D492G	D	+	2	0	RIF1	152002103	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	8.663000	0.91134	0.991000	0.38814	-0.710000	0.03640	GAT		RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
GRB14	2888	hgsc.bcm.edu	37	2	165476321	165476321	+	Missense_Mutation	SNP	T	T	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:165476321T>C	ENST00000263915.3	-	2	738	c.200A>G	c.(199-201)aAg>aGg	p.K67R		NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	67					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K67M(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGATCTTTCTTTTTTCTCCT	0.368																																																	1	Substitution - Missense(1)	ovary(1)	2											134.0	138.0	137.0					2																	165476321		2203	4300	6503	165184567	SO:0001583	missense	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.200A>G	2.37:g.165476321T>C	ENSP00000263915:p.Lys67Arg	Somatic		Capture	Illumina HiSeq	Phase_I	165184567	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147364	0.37923	.	.	ENSG00000115290	ENST00000263915;ENST00000446413;ENST00000424693	T;T;T	0.44482	1.92;1.51;0.92	5.31	2.87	0.33458	.	0.301451	0.28515	N	0.015075	T	0.26919	0.0659	N	0.22421	0.69	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.05683	-1.0870	10	0.66056	D	0.02	-0.5728	7.1349	0.25523	0.1457:0.0:0.1527:0.7016	.	67	Q14449	GRB14_HUMAN	R	67;22;9	ENSP00000263915:K67R;ENSP00000416786:K22R;ENSP00000401702:K9R	ENSP00000263915:K67R	K	-	2	0	GRB14	165184567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.359000	0.44142	0.305000	0.22832	0.533000	0.62120	AAG		GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		
COBLL1	22837	hgsc.bcm.edu	37	2	165552243	165552243	+	Silent	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:165552243G>A	ENST00000392717.2	-	13	1891	c.1887C>T	c.(1885-1887)aaC>aaT	p.N629N	COBLL1_ENST00000409184.3_Silent_p.N591N|COBLL1_ENST00000194871.6_Silent_p.N658N|COBLL1_ENST00000342193.4_Silent_p.N591N|COBLL1_ENST00000375458.2_Silent_p.N553N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	629						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TATCAATGTTGTTATTTTTGG	0.348																																																	0			2											205.0	195.0	198.0					2																	165552243		2203	4300	6503	165260489	SO:0001819	synonymous_variant	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1887C>T	2.37:g.165552243G>A		Somatic		Capture	Illumina HiSeq	Phase_I	165260489	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	ENST00000392717.2	37																																																																																					COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
XIRP2	129446	hgsc.bcm.edu	37	2	168101375	168101375	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:168101375A>G	ENST00000409195.1	+	9	3562	c.3473A>G	c.(3472-3474)cAa>cGa	p.Q1158R	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q936R|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1158R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	983					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Q1158L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGGAGATCCAAGGTGGGGAT	0.393																																																	1	Substitution - Missense(1)	ovary(1)	2											86.0	77.0	80.0					2																	168101375		1860	4104	5964	167809621	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3473A>G	2.37:g.168101375A>G	ENSP00000386840:p.Gln1158Arg	Somatic		Capture	Illumina HiSeq	Phase_I	167809621	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.892388	0.33442	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03152	4.03;4.03;4.03	5.91	4.73	0.59995	.	0.055308	0.64402	D	0.000001	T	0.06917	0.0176	M	0.70275	2.135	0.46185	D	0.99891	B;B;B	0.25809	0.083;0.135;0.135	B;B;B	0.23852	0.022;0.049;0.049	T	0.05971	-1.0853	10	0.54805	T	0.06	-5.0963	12.2267	0.54463	0.8574:0.1426:0.0:0.0	.	983;983;936	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	1158;1158;936	ENSP00000386840:Q1158R;ENSP00000295237:Q1158R;ENSP00000387255:Q936R	ENSP00000295237:Q1158R	Q	+	2	0	XIRP2	167809621	0.956000	0.32656	0.997000	0.53966	0.987000	0.75469	4.083000	0.57643	1.034000	0.39945	0.533000	0.62120	CAA		XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
TTN	7273	hgsc.bcm.edu	37	2	179471822	179471822	+	Missense_Mutation	SNP	C	C	T	rs373526624	byFrequency	TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:179471822C>T	ENST00000591111.1	-	228	48808	c.48584G>A	c.(48583-48585)cGt>cAt	p.R16195H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8771H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15268H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8896H|TTN_ENST00000589042.1_Missense_Mutation_p.R17836H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8963H			Q8WZ42	TITIN_HUMAN	titin	16195	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.R8771H(1)		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)			GGCAATAACACGGAACTTATA	0.413													C|||	7	0.00139776	0.0015	0.0	5008	,	,		19631	0.0		0.0	False		,,,				2504	0.0051																1	Substitution - Missense(1)	stomach(1)	2						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3797		0,1,1898	195.0	190.0	192.0		26312,45803,26687,26888	5.3	1.0	2		192	0,8240		0,0,4120	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,6018	TT,TC,CC		0.0,0.0263,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8771/26927,15268/33424,8896/27052,8963/27119	179471822	1,12037	1899	4120	6019	179180067	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.48584G>A	2.37:g.179471822C>T	ENSP00000465570:p.Arg16195His	Somatic		Capture	Illumina HiSeq	Phase_I	179180067	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		.	.	.	.	.	.	.	.	.	.	C	14.37	2.514206	0.44763	2.63E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.35	5.35	0.76521	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84929	0.5581	H	0.97131	3.945	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90071	0.4163	9	0.87932	D	0	.	19.0709	0.93136	0.0:1.0:0.0:0.0	.	8771;8896;8963;16195	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15268;8771;8963;8896;8771	ENSP00000343764:R15268H;ENSP00000434586:R8771H;ENSP00000340554:R8963H;ENSP00000352154:R8896H	ENSP00000340554:R8963H	R	-	2	0	TTN	179180067	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.045000	0.71020	2.515000	0.84797	0.561000	0.74099	CGT		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179582394	179582394	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:179582394C>A	ENST00000591111.1	-	85	24480	c.24256G>T	c.(24256-24258)Gat>Tat	p.D8086Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D7159Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.D8403Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12275	Ig-like 63.				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)	p.D7159H(1)		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)			AAATTAGCATCATCTTTCAAA	0.413																																																	1	Substitution - Missense(1)	ovary(1)	2											62.0	61.0	61.0					2																	179582394		1879	4100	5979	179290639	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.24256G>T	2.37:g.179582394C>A	ENSP00000465570:p.Asp8086Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	179290639	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		.	.	.	.	.	.	.	.	.	.	C	10.85	1.468303	0.26335	.	.	ENSG00000155657	ENST00000342992	T	0.33654	1.4	5.73	5.73	0.89815	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56848	0.2013	M	0.81179	2.53	0.80722	D	1	D	0.61697	0.99	P	0.57244	0.816	T	0.61202	-0.7110	9	0.87932	D	0	.	13.9294	0.63986	0.0:0.9215:0.0:0.0785	.	8086	Q8WZ42	TITIN_HUMAN	Y	7159	ENSP00000343764:D7159Y	ENSP00000343764:D7159Y	D	-	1	0	TTN	179290639	0.867000	0.29959	0.986000	0.45419	0.995000	0.86356	3.236000	0.51336	2.854000	0.98071	0.655000	0.94253	GAT		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PMS1	5378	hgsc.bcm.edu	37	2	190728639	190728639	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:190728639C>A	ENST00000441310.2	+	10	2260	c.2027C>A	c.(2026-2028)cCa>cAa	p.P676Q	PMS1_ENST00000432292.3_Missense_Mutation_p.P500Q|PMS1_ENST00000418224.3_Missense_Mutation_p.P500Q|PMS1_ENST00000409823.3_Missense_Mutation_p.P637Q|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	676					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.P676L(1)|p.P676R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCTAATCAACCAAAACTTGAT	0.333			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																															yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	2	Substitution - Missense(2)	ovary(1)|lung(1)	2											82.0	88.0	86.0					2																	190728639		2203	4300	6503	190436884	SO:0001583	missense	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2027C>A	2.37:g.190728639C>A	ENSP00000406490:p.Pro676Gln	Somatic		Capture	Illumina HiSeq	Phase_I	190436884	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	8.287	0.816966	0.16607	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000432292;ENST00000424307;ENST00000452382	T;T;T;T;D;T	0.86030	1.9;1.9;1.9;1.9;-2.06;2.06	5.45	5.45	0.79879	.	0.156057	0.64402	D	0.000020	T	0.74512	0.3726	L	0.39397	1.21	0.36480	D	0.867774	B;B;B;B	0.32245	0.341;0.07;0.361;0.341	B;B;B;B	0.25884	0.064;0.026;0.057;0.064	T	0.72151	-0.4377	10	0.02654	T	1	-14.5228	13.6008	0.62018	0.247:0.753:0.0:0.0	.	676;637;637;676	Q4VAL4;Q5FBZ9;Q5FBZ3;P54277	.;.;.;PMS1_HUMAN	Q	500;676;500;637;500;615;64	ENSP00000406490:P676Q;ENSP00000404492:P500Q;ENSP00000387125:P637Q;ENSP00000398378:P500Q;ENSP00000389938:P615Q;ENSP00000396232:P64Q	ENSP00000376149:P500Q	P	+	2	0	PMS1	190436884	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.343000	0.59348	2.852000	0.98041	0.644000	0.83932	CCA		PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2		
CRYGC	1420	hgsc.bcm.edu	37	2	208994333	208994333	+	Silent	SNP	C	C	T	rs142890808	byFrequency	TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:208994333C>T	ENST00000282141.3	-	2	121	c.84G>A	c.(82-84)ccG>ccA	p.P28P		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	28	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGCTGAAATACGGCTGCAGGT	0.572													C|||	2	0.000399361	0.0	0.0	5008	,	,		6949	0.001		0.001	False		,,,				2504	0.0																0			2						C		0,4406		0,0,2203	94.0	103.0	100.0		84	3.1	1.0	2	dbSNP_134	100	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CRYGC	NM_020989.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		28/175	208994333	4,13002	2203	4300	6503	208702578	SO:0001819	synonymous_variant	1420				CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.84G>A	2.37:g.208994333C>T		Somatic		Capture	Illumina HiSeq	Phase_I	208702578	Q53R50	Silent	SNP	ENST00000282141.3	37	CCDS2379.1																																																																																				CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989	
PLCD4	84812	hgsc.bcm.edu	37	2	219494262	219494262	+	Missense_Mutation	SNP	G	G	A	rs561847468		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:219494262G>A	ENST00000450993.2	+	8	1334	c.995G>A	c.(994-996)cGc>cAc	p.R332H	PLCD4_ENST00000432688.1_Missense_Mutation_p.R332H|PLCD4_ENST00000417849.1_Missense_Mutation_p.R332H	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	332	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGGGGGTGCCGCTGCGTGGAG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17563	0.0		0.0	False		,,,				2504	0.001																0			2											60.0	66.0	64.0					2																	219494262		2039	4181	6220	219202506	SO:0001583	missense	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.995G>A	2.37:g.219494262G>A	ENSP00000388631:p.Arg332His	Somatic		Capture	Illumina HiSeq	Phase_I	219202506	Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631575	0.96682	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.81415	-1.49;-1.49;-1.49	5.19	5.19	0.71726	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.95316	0.8480	H	0.99890	4.9	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97682	1.0173	10	0.87932	D	0	.	18.5059	0.90897	0.0:0.0:1.0:0.0	.	332	Q9BRC7	PLCD4_HUMAN	H	332	ENSP00000388631:R332H;ENSP00000396942:R332H;ENSP00000396185:R332H	ENSP00000251959:R332H	R	+	2	0	PLCD4	219202506	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.405000	0.97313	2.704000	0.92352	0.561000	0.74099	CGC		PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1		
RHBDD1	84236	hgsc.bcm.edu	37	2	227778996	227778996	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:227778996A>G	ENST00000341329.3	+	6	1027	c.785A>G	c.(784-786)gAc>gGc	p.D262G	RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000392062.2_Missense_Mutation_p.D262G|RHBDD1_ENST00000409053.1_Missense_Mutation_p.D96G	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	262					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.D262G(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		AGGAACTATGACACGTACACA	0.488																																																	1	Substitution - Missense(1)	ovary(1)	2											123.0	119.0	121.0					2																	227778996		2203	4300	6503	227487240	SO:0001583	missense	84236			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.785A>G	2.37:g.227778996A>G	ENSP00000344779:p.Asp262Gly	Somatic		Capture	Illumina HiSeq	Phase_I	227487240	Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.662232	0.29515	.	.	ENSG00000144468	ENST00000341329;ENST00000392062;ENST00000409053	T;T	0.45668	0.89;0.89	6.06	4.9	0.64082	.	0.326994	0.34676	N	0.003766	T	0.43366	0.1244	L	0.56769	1.78	0.23314	N	0.997922	P;B	0.51351	0.944;0.009	P;B	0.47075	0.536;0.005	T	0.31251	-0.9950	10	0.27082	T	0.32	-11.713	10.4493	0.44513	0.8366:0.1634:0.0:0.0	.	53;262	Q8TEB9-2;Q8TEB9	.;RHBD1_HUMAN	G	262;262;96	ENSP00000344779:D262G;ENSP00000375914:D262G	ENSP00000344779:D262G	D	+	2	0	RHBDD1	227487240	0.761000	0.28439	0.194000	0.23346	0.426000	0.31534	2.084000	0.41625	1.087000	0.41251	0.528000	0.53228	GAC		RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2		
C2orf82	389084	hgsc.bcm.edu	37	2	233740678	233740678	+	Silent	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:233740678G>A	ENST00000409230.1	+	3	349	c.102G>A	c.(100-102)acG>acA	p.T34T	C2orf82_ENST00000331342.2_Silent_p.T34T|C2orf82_ENST00000409533.1_Silent_p.T34T			Q6UX34	CB082_HUMAN	chromosome 2 open reading frame 82	34						cell periphery (GO:0071944)|integral component of membrane (GO:0016021)											CCGTGCCCACGCTGTGGAACG	0.726																																																	0			2											4.0	4.0	4.0					2																	233740678		1974	3895	5869	233448922	SO:0001819	synonymous_variant	389084			AY358535, BC035093	CCDS2499.1	2q37.1	2013-10-11			ENSG00000182600	ENSG00000182600			33763	protein-coding gene	gene with protein product						12975309	Standard	NM_206895		Approved	UNQ830, ASCL830	uc002vtr.1	Q6UX34	OTTHUMG00000133273	ENST00000409230.1:c.102G>A	2.37:g.233740678G>A		Somatic		Capture	Illumina HiSeq	Phase_I	233448922		Silent	SNP	ENST00000409230.1	37	CCDS2499.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517219	0.27123	.	.	ENSG00000182600	ENST00000449331	.	.	.	3.89	-3.36	0.04913	.	.	.	.	.	T	0.52191	0.1719	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50625	-0.8806	4	.	.	.	-6.0072	9.0573	0.36414	0.2437:0.2481:0.5082:0.0	.	.	.	.	T	53	.	.	A	+	1	0	C2orf82	233448922	0.412000	0.25392	0.993000	0.49108	0.932000	0.56968	-0.836000	0.04382	-0.454000	0.07066	0.313000	0.20887	GCT		C2orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257052.2	NM_206895	
COL6A3	1293	hgsc.bcm.edu	37	2	238249186	238249186	+	Silent	SNP	G	G	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:238249186G>A	ENST00000295550.4	-	38	8825	c.8373C>T	c.(8371-8373)aaC>aaT	p.N2791N	COL6A3_ENST00000472056.1_Silent_p.N2184N|COL6A3_ENST00000353578.4_Silent_p.N2585N|COL6A3_ENST00000346358.4_Silent_p.N2591N|COL6A3_ENST00000347401.3_Silent_p.N2590N|COL6A3_ENST00000409809.1_Silent_p.N2585N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2791	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGAAGACGTCGTTTGGCTCAC	0.532																																																	0			2											114.0	100.0	105.0					2																	238249186		2203	4300	6503	237913925	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8373C>T	2.37:g.238249186G>A		Somatic		Capture	Illumina HiSeq	Phase_I	237913925	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
HAUS6	54801	hgsc.bcm.edu	37	9	19063006	19063006	+	Splice_Site	SNP	C	C	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr9:19063006C>A	ENST00000380502.3	-	14	2096	c.1629G>T	c.(1627-1629)gaG>gaT	p.E543D	SCARNA8_ENST00000515924.1_RNA|HAUS6_ENST00000380496.1_Splice_Site_p.E407D	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>T	9.37:g.19063006C>A		Somatic		Capture	Illumina HiSeq	Phase_I	19053006	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603336	0.66445	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.53423	1.64;1.63;0.62	5.54	4.64	0.57946	.	0.101103	0.64402	D	0.000002	T	0.64560	0.2609	M	0.72479	2.2	0.33816	D	0.628422	D;D;D;D	0.76494	0.971;0.971;0.999;0.971	P;P;D;P	0.83275	0.654;0.475;0.996;0.654	T	0.73206	-0.4056	9	.	.	.	-7.6635	10.8035	0.46502	0.0:0.912:0.0:0.088	.	508;543;407;543	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	D	543;407;59	ENSP00000369871:E543D;ENSP00000369865:E407D;ENSP00000409615:E59D	.	E	-	3	2	HAUS6	19053006	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.012000	0.49575	2.606000	0.88127	0.563000	0.77884	GAG		HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	Missense_Mutation
FRMPD1	22844	hgsc.bcm.edu	37	9	37745571	37745571	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr9:37745571C>G	ENST00000539465.1	+	16	4135	c.3542C>G	c.(3541-3543)cCt>cGt	p.P1181R	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P1181R			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1181						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTAGAGACCCTCAAGGACAG	0.488																																																	0			9											56.0	59.0	58.0					9																	37745571		2203	4300	6503	37735571	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3542C>G	9.37:g.37745571C>G	ENSP00000444411:p.Pro1181Arg	Somatic		Capture	Illumina HiSeq	Phase_I	37735571	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	8.638	0.895230	0.17613	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06371	3.31;3.31	5.01	2.03	0.26663	.	0.777035	0.11651	N	0.542782	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43798	-0.9369	10	0.34782	T	0.22	-7.7492	7.6939	0.28583	0.0:0.5924:0.3168:0.0908	.	1181	Q5SYB0	FRPD1_HUMAN	R	1181	ENSP00000366995:P1181R;ENSP00000444411:P1181R	ENSP00000366995:P1181R	P	+	2	0	FRMPD1	37735571	0.001000	0.12720	0.002000	0.10522	0.091000	0.18340	0.310000	0.19356	0.602000	0.29896	0.561000	0.74099	CCT		FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
CRAT	1384	hgsc.bcm.edu	37	9	131860875	131860875	+	Missense_Mutation	SNP	C	C	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr9:131860875C>A	ENST00000318080.2	-	9	1434	c.1140G>T	c.(1138-1140)aaG>aaT	p.K380N	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	380					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TGAACCGCAGCTTCTTGGGCA	0.607																																																	0			9											167.0	145.0	152.0					9																	131860875		2203	4300	6503	130900696	SO:0001583	missense	1384			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1140G>T	9.37:g.131860875C>A	ENSP00000315013:p.Lys380Asn	Somatic		Capture	Illumina HiSeq	Phase_I	130900696	Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795540	0.70452	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	T	0.50813	0.73	5.13	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	H	0.94306	3.52	0.80722	D	1	D	0.57899	0.981	P	0.54238	0.746	T	0.70702	-0.4799	10	0.59425	D	0.04	-40.1931	8.1409	0.31082	0.0:0.6817:0.0:0.3183	.	380	P43155	CACP_HUMAN	N	299;380	ENSP00000315013:K380N	ENSP00000315013:K380N	K	-	3	2	CRAT	130900696	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.086000	0.30853	0.745000	0.32763	0.561000	0.74099	AAG		CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1		
SACS	26278	hgsc.bcm.edu	37	13	23913600	23913600	+	Missense_Mutation	SNP	G	G	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr13:23913600G>T	ENST00000382292.3	-	9	4688	c.4415C>A	c.(4414-4416)cCt>cAt	p.P1472H	SACS_ENST00000382298.3_Missense_Mutation_p.P1472H|SACS_ENST00000402364.1_Missense_Mutation_p.P722H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1472					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGACACTGAAGGGTATTCTTC	0.343																																																	0			13											83.0	83.0	83.0					13																	23913600		2203	4299	6502	22811600	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4415C>A	13.37:g.23913600G>T	ENSP00000371729:p.Pro1472His	Somatic		Capture	Illumina HiSeq	Phase_I	22811600	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895385	0.72639	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.93859	-3.3;-3.3;-3.3	5.79	5.79	0.91817	ATPase-like, ATP-binding domain (2);	0.054015	0.85682	D	0.000000	D	0.95608	0.8572	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.95676	0.8728	10	0.87932	D	0	.	20.0413	0.97592	0.0:0.0:1.0:0.0	.	1472	Q9NZJ4	SACS_HUMAN	H	1472;722;1472	ENSP00000371729:P1472H;ENSP00000385844:P722H;ENSP00000371735:P1472H	ENSP00000371729:P1472H	P	-	2	0	SACS	22811600	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.476000	0.97823	2.751000	0.94390	0.650000	0.86243	CCT		SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
RB1	5925	hgsc.bcm.edu	37	13	48923113	48923113	+	Silent	SNP	T	T	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr13:48923113T>C	ENST00000267163.4	+	6	699	c.561T>C	c.(559-561)tcT>tcC	p.S187S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	187					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.?(6)		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)"""	AAATAAATTCTGCATTGGTGC	0.249		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"""	21	Whole gene deletion(15)|Unknown(6)	bone(11)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	13											62.0	67.0	65.0					13																	48923113		2198	4278	6476	47821114	SO:0001819	synonymous_variant	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.561T>C	13.37:g.48923113T>C		Somatic		Capture	Illumina HiSeq	Phase_I	47821114	A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	CCDS31973.1																																																																																				RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
RB1	5925	hgsc.bcm.edu	37	13	49037878	49037878	+	Silent	SNP	T	T	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr13:49037878T>C	ENST00000267163.4	+	21	2256	c.2118T>C	c.(2116-2118)tgT>tgC	p.C706C		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	706	Domain B.|Pocket; binds T and E1A.		C -> Y (in RB).		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.?(10)|p.I703_E737del(2)|p.M705_S707delMCS(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)"""	TTATGATGTGTTCCATGTATG	0.303		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"""	28	Whole gene deletion(15)|Unknown(10)|Deletion - In frame(3)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|ovary(1)|prostate(1)|liver(1)	13											95.0	101.0	99.0					13																	49037878		2203	4296	6499	47935879	SO:0001819	synonymous_variant	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.2118T>C	13.37:g.49037878T>C		Somatic		Capture	Illumina HiSeq	Phase_I	47935879	A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	CCDS31973.1																																																																																				RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
UTP14C	9724	hgsc.bcm.edu	37	13	52604326	52604326	+	Silent	SNP	T	T	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr13:52604326T>C	ENST00000521776.2	+	2	2119	c.1386T>C	c.(1384-1386)tcT>tcC	p.S462S		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	462					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGGCACTATCTCAGAAATTGA	0.498																																																	0			13											92.0	97.0	96.0					13																	52604326		2203	4300	6503	51502327	SO:0001819	synonymous_variant	440138			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1386T>C	13.37:g.52604326T>C		Somatic		Capture	Illumina HiSeq	Phase_I	51502327	Q5FWG3|Q92555	Silent	SNP	ENST00000521776.2	37	CCDS31978.1																																																																																				UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645	
FAM208B	54906	hgsc.bcm.edu	37	10	5791443	5791443	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr10:5791443C>T	ENST00000328090.5	+	15	6684	c.6059C>T	c.(6058-6060)tCg>tTg	p.S2020L		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2020																	GCTTTCCCTTCGACAAAAATC	0.512																																																	0			10											112.0	116.0	115.0					10																	5791443		1917	4141	6058	5831449	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6059C>T	10.37:g.5791443C>T	ENSP00000328426:p.Ser2020Leu	Somatic		Capture	Illumina HiSeq	Phase_I	5831449	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.928810	0.00493	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.03553	3.89	5.92	0.307	0.15811	.	0.744018	0.12076	N	0.501774	T	0.01387	0.0045	N	0.02391	-0.57	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49153	-0.8969	10	0.11182	T	0.66	.	5.2963	0.15754	0.0:0.2808:0.1402:0.579	.	2020	Q5VWN6	F208B_HUMAN	L	2020;1215	ENSP00000328426:S2020L	ENSP00000328426:S2020L	S	+	2	0	C10orf18	5831449	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.038000	0.13862	-0.162000	0.10964	-0.351000	0.07748	TCG		FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
SFMBT2	57713	hgsc.bcm.edu	37	10	7262397	7262397	+	Missense_Mutation	SNP	G	G	A	rs201914057	byFrequency	TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr10:7262397G>A	ENST00000361972.4	-	11	1396	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R436W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	436					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CACATTAGCCGCCCCTTCACA	0.522													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19606	0.0		0.001	False		,,,				2504	0.0																0			10											237.0	224.0	228.0					10																	7262397		2203	4300	6503	7302403	SO:0001583	missense	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1306C>T	10.37:g.7262397G>A	ENSP00000355109:p.Arg436Trp	Somatic		Capture	Illumina HiSeq	Phase_I	7302403	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.10	2.733773	0.48939	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.46451	0.87;0.87	5.4	-1.48	0.08745	.	0.090804	0.64402	D	0.000001	T	0.64227	0.2579	M	0.86028	2.79	0.49687	D	0.999815	D	0.76494	0.999	D	0.65140	0.932	T	0.70766	-0.4783	10	0.51188	T	0.08	.	18.2371	0.89952	0.0:0.0:0.6077:0.3923	.	436	Q5VUG0	SMBT2_HUMAN	W	436	ENSP00000355109:R436W;ENSP00000380353:R436W	ENSP00000355109:R436W	R	-	1	2	SFMBT2	7302403	0.004000	0.15560	0.071000	0.20095	0.544000	0.35116	0.351000	0.20096	-0.561000	0.06094	-0.309000	0.09137	CGG		SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
WAPAL	23063	hgsc.bcm.edu	37	10	88206045	88206045	+	Missense_Mutation	SNP	C	C	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr10:88206045C>G	ENST00000298767.5	-	16	3748	c.3276G>C	c.(3274-3276)gaG>gaC	p.E1092D	WAPAL_ENST00000263070.7_Missense_Mutation_p.E304D|WAPAL_ENST00000372075.1_Missense_Mutation_p.E304D|WAPAL_ENST00000484070.1_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1092	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TCTTATGTTTCTCTTCTGTAC	0.383																																																	0			10											185.0	184.0	184.0					10																	88206045		2203	4300	6503	88196025	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3276G>C	10.37:g.88206045C>G	ENSP00000298767:p.Glu1092Asp	Somatic		Capture	Illumina HiSeq	Phase_I	88196025	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541097	0.45280	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T;T;T	0.37058	1.22;1.22;1.22	5.51	4.42	0.53409	Armadillo-type fold (1);	0.279454	0.39544	N	0.001324	T	0.31263	0.0791	N	0.17594	0.5	0.40890	D	0.984064	P;B;P;D	0.53151	0.826;0.015;0.826;0.958	B;B;B;P	0.54889	0.259;0.006;0.259;0.763	T	0.02053	-1.1222	10	0.19590	T	0.45	.	10.0257	0.42070	0.0:0.7919:0.0:0.2081	.	1086;1130;1092;1129	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	D	1177;1092;1177;304;304	ENSP00000298767:E1092D;ENSP00000361145:E304D;ENSP00000263070:E304D	ENSP00000263070:E304D	E	-	3	2	WAPAL	88196025	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.342000	0.19926	2.581000	0.87130	0.655000	0.94253	GAG		WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045	
AFAP1L2	84632	hgsc.bcm.edu	37	10	116075427	116075427	+	Silent	SNP	G	G	A	rs185015833		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr10:116075427G>A	ENST00000304129.4	-	6	533	c.504C>T	c.(502-504)gcC>gcT	p.A168A	AFAP1L2_ENST00000545353.1_Silent_p.A221A|AFAP1L2_ENST00000369271.3_Silent_p.A168A			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	168					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GCTCGATGCCGGCCTCCGGCG	0.632																																																	0			10											49.0	38.0	42.0					10																	116075427		2203	4300	6503	116065417	SO:0001819	synonymous_variant	84632			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.504C>T	10.37:g.116075427G>A		Somatic		Capture	Illumina HiSeq	Phase_I	116065417	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	ENST00000304129.4	37	CCDS31286.1																																																																																				AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550	
DOCK1	1793	hgsc.bcm.edu	37	10	129055679	129055679	+	Silent	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr10:129055679C>T	ENST00000280333.6	+	29	3076	c.2967C>T	c.(2965-2967)aaC>aaT	p.N989N	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	989					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGATCATGAACATGGTGCAAA	0.423																																																	0			10											84.0	80.0	81.0					10																	129055679		1933	4143	6076	128945669	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2967C>T	10.37:g.129055679C>T		Somatic		Capture	Illumina HiSeq	Phase_I	128945669	A9Z1Z5	Silent	SNP	ENST00000280333.6	37																																																																																					DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
DNAH5	1767	hgsc.bcm.edu	37	5	13792144	13792144	+	Missense_Mutation	SNP	C	C	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr5:13792144C>T	ENST00000265104.4	-	50	8511	c.8407G>A	c.(8407-8409)Gga>Aga	p.G2803R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2803	AAA 3. {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)					TTCAGCATTCCCTGCCAGACC	0.388									Kartagener syndrome																																								0			5											79.0	75.0	77.0					5																	13792144		2203	4300	6503	13845144	SO:0001583	missense	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.8407G>A	5.37:g.13792144C>T	ENSP00000265104:p.Gly2803Arg	Somatic		Capture	Illumina HiSeq	Phase_I	13845144	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138101	0.94560	.	.	ENSG00000039139	ENST00000265104	T	0.56103	0.48	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.87026	0.6075	H	0.99906	4.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93183	0.6576	10	0.87932	D	0	.	19.5581	0.95361	0.0:1.0:0.0:0.0	.	2803	Q8TE73	DYH5_HUMAN	R	2803	ENSP00000265104:G2803R	ENSP00000265104:G2803R	G	-	1	0	DNAH5	13845144	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.687000	0.84139	2.702000	0.92279	0.591000	0.81541	GGA		DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
APC	324	hgsc.bcm.edu	37	5	112175348	112175348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr5:112175348G>T	ENST00000457016.1	+	16	4437	c.4057G>T	c.(4057-4059)Gaa>Taa	p.E1353*	APC_ENST00000257430.4_Nonsense_Mutation_p.E1353*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.E1353*			P25054	APC_HUMAN	adenomatous polyposis coli	1353	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.E1353*(12)|p.E1353fs*19(1)|p.K1192fs*3(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)		CAAAGCTGTTGAATTTTCTTC	0.483		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"""	15	Substitution - Nonsense(12)|Deletion - Frameshift(2)|Unknown(1)	large_intestine(13)|soft_tissue(1)|skin(1)	5	GRCh37	CD972008	APC	D							62.0	65.0	64.0					5																	112175348		2202	4300	6502	112203247	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.4057G>T	5.37:g.112175348G>T	ENSP00000413133:p.Glu1353*	Somatic		Capture	Illumina HiSeq	Phase_I	112203247	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	40	8.431314	0.98808	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.03	6.03	0.97812	.	0.111916	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.8759	20.1672	0.98154	0.0:0.0:1.0:0.0	.	.	.	.	X	1353	.	.	E	+	1	0	APC	112203247	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	5.308000	0.65768	2.861000	0.98227	0.655000	0.94253	GAA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHA11	56138	hgsc.bcm.edu	37	5	140250689	140250689	+	Silent	SNP	G	G	A	rs377444052		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr5:140250689G>A	ENST00000398640.2	+	1	2001	c.2001G>A	c.(1999-2001)tcG>tcA	p.S667S	PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	667	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			TGCTGGTGTCGTTGGTGGAGA	0.667													.|||	1	0.000199681	0.0	0.0	5008	,	,		15278	0.0		0.001	False		,,,				2504	0.0																0			5						G	,,,,,,,,,,,,,,	0,4398		0,0,2199	31.0	37.0	35.0		,,2001,,,,,,,,,,,,2001	-1.5	0.9	5		35	6,8582		0,6,4288	no	intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031861.1	,,,,,,,,,,,,,,	0,6,6487	AA,AG,GG		0.0699,0.0,0.0462	,,,,,,,,,,,,,,	,,667/950,,,,,,,,,,,,667/811	140250689	6,12980	2199	4294	6493	140230873	SO:0001819	synonymous_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.2001G>A	5.37:g.140250689G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140230873	B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																				PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
FAF2	23197	hgsc.bcm.edu	37	5	175921228	175921228	+	Missense_Mutation	SNP	A	A	G			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr5:175921228A>G	ENST00000261942.6	+	7	666	c.613A>G	c.(613-615)Agg>Ggg	p.R205G		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	205					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AATAAACACTAGGATGCTCTT	0.403																																																	0			5											152.0	142.0	146.0					5																	175921228		2203	4300	6503	175853834	SO:0001583	missense	23197			BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.613A>G	5.37:g.175921228A>G	ENSP00000261942:p.Arg205Gly	Somatic		Capture	Illumina HiSeq	Phase_I	175853834	O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	CCDS34296.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.12|12.12	1.843860|1.843860	0.32606|0.32606	.|.	.|.	ENSG00000113194|ENSG00000113194	ENST00000261942|ENST00000540174	T|.	0.43294|.	0.95|.	5.36|5.36	1.34|1.34	0.21922|0.21922	UAS (1);|.	0.087322|.	0.85682|.	D|.	0.000000|.	T|T	0.59851|0.59851	0.2224|0.2224	M|M	0.62723|0.62723	1.935|1.935	0.44579|0.44579	D|D	0.997547|0.997547	B|.	0.26002|.	0.139|.	B|.	0.27076|.	0.076|.	T|T	0.52983|0.52983	-0.8502|-0.8502	10|5	0.41790|.	T|.	0.15|.	-7.9639|-7.9639	8.5753|8.5753	0.33595|0.33595	0.6278:0.2518:0.0:0.1204|0.6278:0.2518:0.0:0.1204	.|.	205|.	Q96CS3|.	FAF2_HUMAN|.	G|G	205|205	ENSP00000261942:R205G|.	ENSP00000261942:R205G|.	R|S	+|+	1|1	2|0	FAF2|FAF2	175853834|175853834	0.997000|0.997000	0.39634|0.39634	0.174000|0.174000	0.22961|0.22961	0.623000|0.623000	0.37688|0.37688	3.599000|3.599000	0.54045|0.54045	0.041000|0.041000	0.15688|0.15688	-0.321000|-0.321000	0.08615|0.08615	AGG|AGT		FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613	
IBTK	25998	hgsc.bcm.edu	37	6	82922423	82922423	+	Splice_Site	SNP	C	C	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr6:82922423C>A	ENST00000306270.7	-	13	2841		c.e13+1		IBTK_ENST00000503631.1_Splice_Site|RNU6-130P_ENST00000411112.1_RNA|IBTK_ENST00000510291.1_Splice_Site	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase						negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCCTTACTTACCATTTTTTCT	0.333																																																	0			6											178.0	158.0	165.0					6																	82922423		2203	4299	6502	82979142	SO:0001630	splice_region_variant	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2291+1G>T	6.37:g.82922423C>A		Somatic		Capture	Illumina HiSeq	Phase_I	82979142	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Splice_Site	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060397	0.76074	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6923	0.96007	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IBTK	82979142	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	6.385000	0.73182	2.830000	0.97506	0.585000	0.79938	.		IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	Intron
CDHR4	389118	hgsc.bcm.edu	37	3	49837196	49837196	+	Splice_Site	SNP	C	C	A			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr3:49837196C>A	ENST00000412678.2	-	1	58		c.e1+1		CDHR4_ENST00000343366.4_Splice_Site|CDHR4_ENST00000487256.1_Splice_Site	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CACCTCCTCACCAGAGACCAC	0.562																																																	0			3											76.0	85.0	82.0					3																	49837196		2076	4229	6305	49812200	SO:0001630	splice_region_variant	0				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.49+1G>T	3.37:g.49837196C>A		Somatic		Capture	Illumina HiSeq	Phase_I	49812200	Q6UXT0	Splice_Site	SNP	ENST00000412678.2	37	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812016	0.70797	.	.	ENSG00000187492	ENST00000412678;ENST00000343366;ENST00000487256	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9804	0.64301	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDHR4	49812200	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.122000	0.41987	2.424000	0.82194	0.655000	0.94253	.		CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350387.1	NM_001007540	Intron
POSTN	10631	hgsc.bcm.edu	37	13	38153364	38153364	+	Splice_Site	SNP	A	A	C			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr13:38153364A>C	ENST00000379747.4	-	13	1909		c.e13+1		POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TAGACAACTTACTTCTTTCAG	0.318																																																	0			13											82.0	75.0	78.0					13																	38153364		2203	4299	6502	37051364	SO:0001630	splice_region_variant	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1791+1T>G	13.37:g.38153364A>C		Somatic		Capture	Illumina HiSeq	Phase_I	37051364	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089904	0.76756	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2774	0.82651	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37051364	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.201000	0.72124	2.247000	0.74100	0.482000	0.46254	.		POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Intron
MSH6	2956	hgsc.bcm.edu	37	2	48030737	48030738	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:48030737_48030738insGA	ENST00000234420.5	+	5	3503_3504	c.3351_3352insGA	c.(3352-3354)gagfs	p.E1118fs	MSH6_ENST00000540021.1_Frame_Shift_Ins_p.E988fs|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Frame_Shift_Ins_p.E816fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1118	Poly-Glu.				ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAATAGGCTGTGAGGAAGAGGA	0.426			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	2																																								47884242	SO:0001589	frameshift_variant	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3352_3353dupGA	2.37:g.48030738_48030739dupGA	ENSP00000234420:p.Glu1118fs	Somatic		Capture	Illumina HiSeq	Phase_I	47884241	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Frame_Shift_Ins	INS	ENST00000234420.5	37	CCDS1836.1																																																																																				MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
COL3A1	1281	hgsc.bcm.edu	37	2	189872848	189872849	+	Frame_Shift_Del	DEL	AG	AG	-	rs546664098		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	AG	AG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr2:189872848_189872849delAG	ENST00000304636.3	+	47	3675_3676	c.3505_3506delAG	c.(3505-3507)agafs	p.R1169fs	COL3A1_ENST00000317840.5_Frame_Shift_Del_p.R866fs	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1169	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TCGAGGTAACAGAGGTGAAAGA	0.446																																																	0			2																																								189581094	SO:0001589	frameshift_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3505_3506delAG	2.37:g.189872850_189872851delAG	ENSP00000304408:p.Arg1169fs	Somatic		Capture	Illumina HiSeq	Phase_I	189581093	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Frame_Shift_Del	DEL	ENST00000304636.3	37	CCDS2297.1																																																																																				COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
MUC4	4585	hgsc.bcm.edu	37	3	195508202	195508249	+	In_Frame_Del	DEL	CTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA	CTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA	-	rs558318316|rs199592227|rs566665732|rs144373027|rs138141889|rs542067128|rs144420167|rs576510701|rs533775458|rs200984123|rs537584428|rs201826718|rs536470139|rs574664481|rs201846606	byFrequency	TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	CTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA	CTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr3:195508202_195508249delCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA	ENST00000463781.3	-	2	10661_10708	c.10202_10249delTATCCACAGGTGACACCATGCCTCTTCCTGTCACTAGCCCTTCCTCAG	c.(10201-10251)gtatccacaggtgacaccatgcctcttcctgtcactagcccttcctcagca>gca	p.VSTGDTMPLPVTSPSS3401del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGDTMPLPVTSPSS3401del	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.V3401A(3)|p.P3408R(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)		CCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATACTGAGGAAGT	0.585																																																	4	Substitution - Missense(4)	stomach(2)|kidney(1)|endometrium(1)	3							,,	191,3561		48,95,1733					,,	-0.4	0.0			12	700,6748		140,420,3164	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	188,515,4897	A1A1,A1R,RR		9.3985,5.0906,7.9554	,,	,,		891,10309				196993028	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.10202_10249delTATCCACAGGTGACACCATGCCTCTTCCTGTCACTAGCCCTTCCTCAG	3.37:g.195508202_195508249delCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA	ENSP00000417498:p.Val3401_Ser3416del	Somatic		Capture	Illumina HiSeq	Phase_I	196992981	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																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
RNF145	153830	hgsc.bcm.edu	37	5	158630642	158630642	+	5'UTR	DEL	T	T	-	rs74770414|rs202186112		TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr5:158630642delT	ENST00000424310.2	-	0	343				RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000274542.2_Frame_Shift_Del_p.K26fs	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tttttttttcttttttttttt	0.363																																																	0			5											31.0	34.0	33.0					5																	158630642		2202	4300	6502	158563220	SO:0001623	5_prime_UTR_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-17A>-	5.37:g.158630642delT		Somatic		Capture	Illumina HiSeq	Phase_I	158563220	B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Del	DEL	ENST00000424310.2	37	CCDS56390.1																																																																																				RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	
KRTAP5-1	387264	hgsc.bcm.edu	37	11	1606121	1606150	+	In_Frame_Del	DEL	CCACAGCCACCCTTGGATCCCCCACAAGAG	CCACAGCCACCCTTGGATCCCCCACAAGAG	-	rs138363822|rs199501537|rs80025267|rs76191756	byFrequency	TCGA-CI-6621-01A-11D-1826-10	TCGA-CI-6621-10A-01D-1826-10	CCACAGCCACCCTTGGATCCCCCACAAGAG	CCACAGCCACCCTTGGATCCCCCACAAGAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4785efc-e4b4-4bd0-b465-e4bd6321f1a2	d37343fb-f505-4303-a2ea-d3f8767c86c9	g.chr11:1606121_1606150delCCACAGCCACCCTTGGATCCCCCACAAGAG	ENST00000382171.2	-	1	363_392	c.330_359delCTCTTGTGGGGGATCCAAGGGTGGCTGTGG	c.(328-360)ggctcttgtgggggatccaagggtggctgtggt>ggt	p.110_120GSCGGSKGGCG>G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	110	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGCCGGAACCACAGCCACCCTTGGATCCCCCACAAGAGCCACAGCCCC	0.661																																																	0			11								2171,2035		609,953,541						-5.2	0.0			71	4129,4059		1127,1875,1092	no	coding	KRTAP5-1	NM_001005922.1		1736,2828,1633	A1A1,A1R,RR		49.5725,48.3833,49.169				6300,6094				1562726	SO:0001651	inframe_deletion	387264			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.330_359delCTCTTGTGGGGGATCCAAGGGTGGCTGTGG	11.37:g.1606121_1606150delCCACAGCCACCCTTGGATCCCCCACAAGAG	ENSP00000371606:p.Gly110_Cys119del	Somatic		Capture	Illumina HiSeq	Phase_I	1562697		In_Frame_Del	DEL	ENST00000382171.2	37	CCDS31330.1																																																																																				KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922	
